Incidental Mutation 'R5057:Dlg5'
| ID |
390976 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dlg5
|
| Ensembl Gene |
ENSMUSG00000021782 |
| Gene Name |
discs large MAGUK scaffold protein 5 |
| Synonyms |
4933429D20Rik |
| MMRRC Submission |
042647-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5057 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
24184021-24295988 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24186690 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 1847
(E1847G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073367
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042009]
[ENSMUST00000073687]
[ENSMUST00000090398]
|
| AlphaFold |
E9Q9R9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042009
AA Change: E1521G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044852
Gene: ENSMUSG00000021782
AA Change: E1521G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
20 |
247 |
N/A |
INTRINSIC |
|
low complexity region
|
261 |
274 |
N/A |
INTRINSIC |
|
PDZ
|
279 |
356 |
2.02e-10 |
SMART |
|
PDZ
|
364 |
447 |
9.5e-16 |
SMART |
|
low complexity region
|
510 |
517 |
N/A |
INTRINSIC |
|
low complexity region
|
692 |
711 |
N/A |
INTRINSIC |
|
low complexity region
|
903 |
918 |
N/A |
INTRINSIC |
|
PDZ
|
1009 |
1080 |
2.1e-17 |
SMART |
|
PDZ
|
1164 |
1236 |
2.97e-8 |
SMART |
|
SH3
|
1250 |
1314 |
3.73e-7 |
SMART |
|
low complexity region
|
1338 |
1358 |
N/A |
INTRINSIC |
|
GuKc
|
1375 |
1561 |
5.43e-53 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073687
AA Change: E1847G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073367
Gene: ENSMUSG00000021782
AA Change: E1847G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
22 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
44 |
66 |
N/A |
INTRINSIC |
|
Pfam:Takusan
|
104 |
191 |
1.4e-27 |
PFAM |
|
coiled coil region
|
308 |
578 |
N/A |
INTRINSIC |
|
low complexity region
|
592 |
605 |
N/A |
INTRINSIC |
|
PDZ
|
610 |
687 |
2.02e-10 |
SMART |
|
PDZ
|
695 |
773 |
1.25e-15 |
SMART |
|
low complexity region
|
836 |
843 |
N/A |
INTRINSIC |
|
low complexity region
|
1018 |
1037 |
N/A |
INTRINSIC |
|
low complexity region
|
1229 |
1244 |
N/A |
INTRINSIC |
|
PDZ
|
1335 |
1406 |
2.1e-17 |
SMART |
|
PDZ
|
1490 |
1562 |
2.97e-8 |
SMART |
|
SH3
|
1576 |
1640 |
3.73e-7 |
SMART |
|
low complexity region
|
1664 |
1684 |
N/A |
INTRINSIC |
|
GuKc
|
1701 |
1887 |
5.43e-53 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090398
AA Change: E1870G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000087879
Gene: ENSMUSG00000021782
AA Change: E1870G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
22 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
44 |
66 |
N/A |
INTRINSIC |
|
low complexity region
|
109 |
123 |
N/A |
INTRINSIC |
|
Pfam:Takusan
|
128 |
213 |
6e-33 |
PFAM |
|
coiled coil region
|
331 |
601 |
N/A |
INTRINSIC |
|
low complexity region
|
615 |
628 |
N/A |
INTRINSIC |
|
PDZ
|
633 |
710 |
2.02e-10 |
SMART |
|
PDZ
|
718 |
796 |
1.25e-15 |
SMART |
|
low complexity region
|
859 |
866 |
N/A |
INTRINSIC |
|
low complexity region
|
1041 |
1060 |
N/A |
INTRINSIC |
|
low complexity region
|
1252 |
1267 |
N/A |
INTRINSIC |
|
PDZ
|
1358 |
1429 |
2.1e-17 |
SMART |
|
PDZ
|
1513 |
1585 |
2.97e-8 |
SMART |
|
SH3
|
1599 |
1663 |
3.73e-7 |
SMART |
|
low complexity region
|
1687 |
1707 |
N/A |
INTRINSIC |
|
GuKc
|
1724 |
1910 |
5.43e-53 |
SMART |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000166007
|
| SMART Domains |
Protein: ENSMUSP00000127054
Gene: ENSMUSG00000021782
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
41 |
61 |
N/A |
INTRINSIC |
|
GuKc
|
78 |
224 |
6.17e-3 |
SMART |
|
| Meta Mutation Damage Score |
0.2638 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.0%
|
| Validation Efficiency |
97% (118/122) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the family of discs large (DLG) homologs, a subset of the membrane-associated guanylate kinase (MAGUK) superfamily. The MAGUK proteins are composed of a catalytically inactive guanylate kinase domain, in addition to PDZ and SH3 domains, and are thought to function as scaffolding molecules at sites of cell-cell contact. The protein encoded by this gene localizes to the plasma membrane and cytoplasm, and interacts with components of adherens junctions and the cytoskeleton. It is proposed to function in the transmission of extracellular signals to the cytoskeleton and in the maintenance of epithelial cell structure. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit growth retardation, hydroencephaly, abnormal brain morphology, abnormal neurogenesis, kidney cysts, ureter defects, and abnormal kidney morphology. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(19) : Targeted, other(1) Gene trapped(18) |
| Other mutations in this stock |
Total: 120 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
A |
T |
11: 72,057,581 (GRCm39) |
H739Q |
probably benign |
Het |
| Acad12 |
T |
A |
5: 121,748,152 (GRCm39) |
T89S |
probably benign |
Het |
| Adgb |
A |
G |
10: 10,233,722 (GRCm39) |
C1252R |
probably benign |
Het |
| Ankef1 |
A |
G |
2: 136,392,280 (GRCm39) |
|
probably null |
Het |
| Ankfy1 |
T |
C |
11: 72,650,745 (GRCm39) |
L976P |
probably damaging |
Het |
| Ankib1 |
T |
A |
5: 3,784,011 (GRCm39) |
I322F |
possibly damaging |
Het |
| Ankrd61 |
T |
A |
5: 143,831,613 (GRCm39) |
T64S |
probably benign |
Het |
| Anxa6 |
T |
G |
11: 54,892,062 (GRCm39) |
E298A |
possibly damaging |
Het |
| Apc2 |
A |
G |
10: 80,144,903 (GRCm39) |
S605G |
probably damaging |
Het |
| Arih1 |
T |
C |
9: 59,393,515 (GRCm39) |
N39S |
unknown |
Het |
| Bicc1 |
A |
G |
10: 70,783,713 (GRCm39) |
S393P |
possibly damaging |
Het |
| Bptf |
A |
T |
11: 106,973,354 (GRCm39) |
F693L |
probably damaging |
Het |
| Cacng4 |
A |
G |
11: 107,685,197 (GRCm39) |
Y32H |
probably damaging |
Het |
| Ccdc50 |
T |
A |
16: 27,257,092 (GRCm39) |
D252E |
probably benign |
Het |
| Ccdc92b |
C |
A |
11: 74,528,976 (GRCm39) |
T160K |
probably damaging |
Het |
| Cd163 |
C |
T |
6: 124,302,247 (GRCm39) |
T937I |
probably damaging |
Het |
| Cdh22 |
C |
A |
2: 164,958,063 (GRCm39) |
V635F |
probably damaging |
Het |
| Cenpe |
G |
T |
3: 134,926,074 (GRCm39) |
A243S |
probably benign |
Het |
| Cep295 |
A |
T |
9: 15,233,979 (GRCm39) |
H2272Q |
probably benign |
Het |
| Cgnl1 |
A |
T |
9: 71,632,076 (GRCm39) |
V425D |
probably damaging |
Het |
| Clec4b2 |
A |
T |
6: 123,177,915 (GRCm39) |
S77C |
probably null |
Het |
| Cntnap5a |
C |
T |
1: 115,612,943 (GRCm39) |
T26I |
probably benign |
Het |
| Col6a3 |
T |
C |
1: 90,743,852 (GRCm39) |
K165R |
possibly damaging |
Het |
| Copb1 |
A |
T |
7: 113,825,997 (GRCm39) |
N662K |
probably benign |
Het |
| Crybg1 |
T |
A |
10: 43,865,104 (GRCm39) |
R1458* |
probably null |
Het |
| Cspp1 |
T |
A |
1: 10,145,186 (GRCm39) |
|
probably benign |
Het |
| Dhtkd1 |
A |
G |
2: 5,924,324 (GRCm39) |
C430R |
probably damaging |
Het |
| Dync2i1 |
A |
T |
12: 116,177,033 (GRCm39) |
N856K |
probably benign |
Het |
| Eif1ad16 |
A |
T |
12: 87,985,481 (GRCm39) |
S21T |
unknown |
Het |
| Ephb3 |
A |
G |
16: 21,039,197 (GRCm39) |
D351G |
probably damaging |
Het |
| Exd2 |
T |
A |
12: 80,543,564 (GRCm39) |
N582K |
probably damaging |
Het |
| Fam161a |
T |
A |
11: 22,970,397 (GRCm39) |
C192S |
probably damaging |
Het |
| Fbn1 |
A |
G |
2: 125,308,615 (GRCm39) |
V149A |
probably benign |
Het |
| Fbxw16 |
A |
G |
9: 109,270,232 (GRCm39) |
S170P |
probably damaging |
Het |
| Fndc1 |
T |
A |
17: 7,990,802 (GRCm39) |
R965* |
probably null |
Het |
| Frem2 |
T |
C |
3: 53,442,617 (GRCm39) |
D2640G |
probably benign |
Het |
| Gfm1 |
T |
C |
3: 67,380,877 (GRCm39) |
V664A |
probably damaging |
Het |
| Gm10803 |
A |
C |
2: 93,394,517 (GRCm39) |
L96F |
probably damaging |
Het |
| Gm14569 |
T |
C |
X: 35,694,470 (GRCm39) |
D1413G |
probably benign |
Het |
| Gm44501 |
A |
G |
17: 40,889,563 (GRCm39) |
T26A |
probably benign |
Het |
| Gpc4 |
G |
A |
X: 51,163,440 (GRCm39) |
R148C |
probably damaging |
Het |
| Gpsm1 |
G |
A |
2: 26,215,369 (GRCm39) |
R277Q |
probably damaging |
Het |
| Inmt |
T |
A |
6: 55,151,883 (GRCm39) |
H29L |
probably benign |
Het |
| Insrr |
T |
A |
3: 87,722,572 (GRCm39) |
C1265S |
probably benign |
Het |
| Kctd12 |
A |
G |
14: 103,219,045 (GRCm39) |
F278L |
possibly damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lag3 |
T |
A |
6: 124,882,318 (GRCm39) |
I393F |
possibly damaging |
Het |
| Lama2 |
C |
T |
10: 27,040,982 (GRCm39) |
C1447Y |
probably damaging |
Het |
| Lama3 |
G |
A |
18: 12,665,005 (GRCm39) |
G2275S |
probably null |
Het |
| Lrrc17 |
A |
T |
5: 21,780,307 (GRCm39) |
H427L |
probably benign |
Het |
| Med13l |
T |
A |
5: 118,856,558 (GRCm39) |
S164T |
probably damaging |
Het |
| Milr1 |
A |
G |
11: 106,657,791 (GRCm39) |
D131G |
possibly damaging |
Het |
| Myo5c |
A |
T |
9: 75,208,155 (GRCm39) |
T1630S |
probably damaging |
Het |
| Nbeal2 |
A |
T |
9: 110,460,073 (GRCm39) |
N1848K |
probably damaging |
Het |
| Ncor2 |
A |
T |
5: 125,125,130 (GRCm39) |
V307E |
possibly damaging |
Het |
| Ndufs3 |
C |
A |
2: 90,729,004 (GRCm39) |
A161S |
probably benign |
Het |
| Neo1 |
T |
C |
9: 58,897,554 (GRCm39) |
D134G |
probably damaging |
Het |
| Nexmif |
A |
T |
X: 103,130,956 (GRCm39) |
N320K |
probably damaging |
Het |
| Nipal3 |
T |
A |
4: 135,194,167 (GRCm39) |
I289F |
probably damaging |
Het |
| Nrg4 |
A |
G |
9: 55,189,880 (GRCm39) |
|
probably benign |
Het |
| Nrxn3 |
A |
T |
12: 89,221,804 (GRCm39) |
I528F |
probably damaging |
Het |
| Or11h23 |
A |
C |
14: 50,948,669 (GRCm39) |
N294T |
probably damaging |
Het |
| Or3a10 |
T |
A |
11: 73,935,881 (GRCm39) |
D73V |
probably damaging |
Het |
| Pate2 |
T |
C |
9: 35,597,407 (GRCm39) |
|
probably benign |
Het |
| Pcnx2 |
T |
C |
8: 126,581,930 (GRCm39) |
I935M |
possibly damaging |
Het |
| Pik3c2a |
G |
T |
7: 115,975,518 (GRCm39) |
T683K |
possibly damaging |
Het |
| Pip5k1c |
G |
A |
10: 81,146,723 (GRCm39) |
|
probably null |
Het |
| Pkd1l2 |
G |
A |
8: 117,781,747 (GRCm39) |
T766I |
probably benign |
Het |
| Polr3c |
C |
A |
3: 96,619,373 (GRCm39) |
L508F |
probably damaging |
Het |
| Por |
A |
G |
5: 135,759,756 (GRCm39) |
D189G |
probably damaging |
Het |
| Potefam1 |
A |
T |
2: 111,055,766 (GRCm39) |
F207I |
probably benign |
Het |
| Prim2 |
A |
T |
1: 33,669,441 (GRCm39) |
L178* |
probably null |
Het |
| Prima1 |
C |
A |
12: 103,168,864 (GRCm39) |
|
probably null |
Het |
| Ptpn21 |
G |
A |
12: 98,645,666 (GRCm39) |
R1091C |
probably damaging |
Het |
| Ptpn23 |
G |
A |
9: 110,217,624 (GRCm39) |
T744I |
probably benign |
Het |
| Rad21 |
A |
T |
15: 51,830,102 (GRCm39) |
I503K |
probably benign |
Het |
| Rbm12 |
A |
T |
2: 155,938,806 (GRCm39) |
C489S |
probably benign |
Het |
| Rpl10a |
A |
T |
17: 28,549,607 (GRCm39) |
H140L |
probably benign |
Het |
| Rpl7-ps8 |
A |
T |
15: 59,083,004 (GRCm39) |
|
noncoding transcript |
Het |
| Rtbdn |
T |
C |
8: 85,681,638 (GRCm39) |
F143S |
probably damaging |
Het |
| Scamp3 |
T |
A |
3: 89,089,600 (GRCm39) |
|
probably benign |
Het |
| Setd5 |
A |
G |
6: 113,114,922 (GRCm39) |
S848G |
probably damaging |
Het |
| Sez6 |
T |
C |
11: 77,863,979 (GRCm39) |
V487A |
probably damaging |
Het |
| Shc2 |
G |
A |
10: 79,459,706 (GRCm39) |
P413S |
probably benign |
Het |
| Sipa1l3 |
T |
C |
7: 29,070,618 (GRCm39) |
N966S |
probably damaging |
Het |
| Slc39a8 |
A |
G |
3: 135,554,790 (GRCm39) |
E78G |
probably benign |
Het |
| Slc8a3 |
A |
G |
12: 81,246,332 (GRCm39) |
V900A |
probably damaging |
Het |
| Slitrk3 |
T |
C |
3: 72,957,981 (GRCm39) |
T264A |
probably benign |
Het |
| Spire2 |
G |
A |
8: 124,084,940 (GRCm39) |
R260H |
probably damaging |
Het |
| Stk39 |
T |
A |
2: 68,051,292 (GRCm39) |
I518F |
probably damaging |
Het |
| Tardbp |
T |
A |
4: 148,703,813 (GRCm39) |
|
probably null |
Het |
| Tep1 |
A |
G |
14: 51,066,456 (GRCm39) |
Y2335H |
probably benign |
Het |
| Tesl1 |
G |
A |
X: 23,773,480 (GRCm39) |
G327E |
probably damaging |
Het |
| Tll2 |
A |
G |
19: 41,105,705 (GRCm39) |
V358A |
probably benign |
Het |
| Tmem268 |
C |
G |
4: 63,486,777 (GRCm39) |
S100C |
probably damaging |
Het |
| Tnfsf9 |
A |
G |
17: 57,412,444 (GRCm39) |
T5A |
probably benign |
Het |
| Trappc10 |
G |
T |
10: 78,052,994 (GRCm39) |
F260L |
possibly damaging |
Het |
| Trim5 |
A |
G |
7: 103,914,630 (GRCm39) |
Y480H |
probably damaging |
Het |
| Trmt112 |
T |
C |
19: 6,888,121 (GRCm39) |
V91A |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,577,379 (GRCm39) |
K22759* |
probably null |
Het |
| Ttn |
C |
A |
2: 76,748,988 (GRCm39) |
L4020F |
probably benign |
Het |
| Ubash3b |
A |
G |
9: 40,948,755 (GRCm39) |
C187R |
possibly damaging |
Het |
| Ube3b |
T |
C |
5: 114,544,318 (GRCm39) |
F572L |
probably benign |
Het |
| Ubr5 |
A |
G |
15: 38,004,353 (GRCm39) |
V1332A |
probably damaging |
Het |
| Ubtd2 |
C |
A |
11: 32,466,320 (GRCm39) |
R180S |
probably damaging |
Het |
| Ubtf |
A |
G |
11: 102,197,913 (GRCm39) |
S673P |
probably damaging |
Het |
| Ubtfl1 |
A |
T |
9: 18,320,487 (GRCm39) |
D5V |
possibly damaging |
Het |
| Usp17la |
G |
A |
7: 104,510,330 (GRCm39) |
V312I |
possibly damaging |
Het |
| Usp17ld |
G |
T |
7: 102,899,655 (GRCm39) |
H426N |
probably benign |
Het |
| Usp34 |
A |
G |
11: 23,408,086 (GRCm39) |
|
probably benign |
Het |
| Vmn1r199 |
A |
T |
13: 22,567,575 (GRCm39) |
T290S |
possibly damaging |
Het |
| Vmn1r33 |
T |
C |
6: 66,589,089 (GRCm39) |
N155S |
probably benign |
Het |
| Vmn2r28 |
T |
A |
7: 5,489,463 (GRCm39) |
I459L |
probably benign |
Het |
| Vmn2r6 |
T |
A |
3: 64,445,207 (GRCm39) |
K839N |
probably damaging |
Het |
| Vmn2r65 |
A |
G |
7: 84,589,819 (GRCm39) |
I699T |
probably damaging |
Het |
| Vps16 |
A |
G |
2: 130,281,372 (GRCm39) |
S235G |
probably benign |
Het |
| Vwde |
T |
C |
6: 13,192,641 (GRCm39) |
I421V |
possibly damaging |
Het |
| Xiap |
T |
C |
X: 41,183,342 (GRCm39) |
F23L |
probably benign |
Het |
| Xkr7 |
A |
G |
2: 152,896,300 (GRCm39) |
T385A |
probably benign |
Het |
| Znfx1 |
T |
C |
2: 166,881,746 (GRCm39) |
Y217C |
probably damaging |
Het |
|
| Other mutations in Dlg5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00160:Dlg5
|
APN |
14 |
24,241,229 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00164:Dlg5
|
APN |
14 |
24,208,532 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL00767:Dlg5
|
APN |
14 |
24,215,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01284:Dlg5
|
APN |
14 |
24,196,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01328:Dlg5
|
APN |
14 |
24,252,419 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01532:Dlg5
|
APN |
14 |
24,208,660 (GRCm39) |
missense |
probably benign |
|
|
IGL01621:Dlg5
|
APN |
14 |
24,198,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01649:Dlg5
|
APN |
14 |
24,188,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01733:Dlg5
|
APN |
14 |
24,220,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02048:Dlg5
|
APN |
14 |
24,222,271 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02103:Dlg5
|
APN |
14 |
24,194,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02138:Dlg5
|
APN |
14 |
24,208,419 (GRCm39) |
missense |
probably benign |
|
|
IGL02146:Dlg5
|
APN |
14 |
24,252,429 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02392:Dlg5
|
APN |
14 |
24,200,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02427:Dlg5
|
APN |
14 |
24,216,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02643:Dlg5
|
APN |
14 |
24,241,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02649:Dlg5
|
APN |
14 |
24,196,319 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02933:Dlg5
|
APN |
14 |
24,208,567 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02965:Dlg5
|
APN |
14 |
24,222,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02988:Dlg5
|
APN |
14 |
24,216,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03351:Dlg5
|
APN |
14 |
24,220,522 (GRCm39) |
missense |
probably benign |
0.03 |
|
legerdemain
|
UTSW |
14 |
24,214,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0123:Dlg5
|
UTSW |
14 |
24,197,274 (GRCm39) |
missense |
probably benign |
|
|
R0131:Dlg5
|
UTSW |
14 |
24,188,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0709:Dlg5
|
UTSW |
14 |
24,196,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0920:Dlg5
|
UTSW |
14 |
24,226,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0924:Dlg5
|
UTSW |
14 |
24,185,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0930:Dlg5
|
UTSW |
14 |
24,185,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0981:Dlg5
|
UTSW |
14 |
24,204,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1402:Dlg5
|
UTSW |
14 |
24,226,676 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1402:Dlg5
|
UTSW |
14 |
24,226,676 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1438:Dlg5
|
UTSW |
14 |
24,204,673 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1449:Dlg5
|
UTSW |
14 |
24,185,711 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1465:Dlg5
|
UTSW |
14 |
24,204,764 (GRCm39) |
splice site |
probably null |
|
|
R1465:Dlg5
|
UTSW |
14 |
24,204,764 (GRCm39) |
splice site |
probably null |
|
|
R1543:Dlg5
|
UTSW |
14 |
24,194,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1824:Dlg5
|
UTSW |
14 |
24,199,512 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1899:Dlg5
|
UTSW |
14 |
24,198,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1920:Dlg5
|
UTSW |
14 |
24,226,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1921:Dlg5
|
UTSW |
14 |
24,226,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1951:Dlg5
|
UTSW |
14 |
24,206,537 (GRCm39) |
splice site |
probably benign |
|
|
R1968:Dlg5
|
UTSW |
14 |
24,214,187 (GRCm39) |
nonsense |
probably null |
|
|
R2049:Dlg5
|
UTSW |
14 |
24,204,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2070:Dlg5
|
UTSW |
14 |
24,186,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2117:Dlg5
|
UTSW |
14 |
24,227,826 (GRCm39) |
nonsense |
probably null |
|
|
R2139:Dlg5
|
UTSW |
14 |
24,220,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2153:Dlg5
|
UTSW |
14 |
24,187,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2283:Dlg5
|
UTSW |
14 |
24,208,731 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2293:Dlg5
|
UTSW |
14 |
24,208,180 (GRCm39) |
missense |
probably benign |
|
|
R2356:Dlg5
|
UTSW |
14 |
24,220,496 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2362:Dlg5
|
UTSW |
14 |
24,208,755 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2513:Dlg5
|
UTSW |
14 |
24,214,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3084:Dlg5
|
UTSW |
14 |
24,216,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3086:Dlg5
|
UTSW |
14 |
24,216,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3750:Dlg5
|
UTSW |
14 |
24,215,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3780:Dlg5
|
UTSW |
14 |
24,240,378 (GRCm39) |
unclassified |
probably benign |
|
|
R3782:Dlg5
|
UTSW |
14 |
24,240,378 (GRCm39) |
unclassified |
probably benign |
|
|
R3828:Dlg5
|
UTSW |
14 |
24,196,226 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4079:Dlg5
|
UTSW |
14 |
24,198,328 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4393:Dlg5
|
UTSW |
14 |
24,228,057 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4615:Dlg5
|
UTSW |
14 |
24,208,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4664:Dlg5
|
UTSW |
14 |
24,187,249 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4712:Dlg5
|
UTSW |
14 |
24,228,051 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4796:Dlg5
|
UTSW |
14 |
24,194,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4801:Dlg5
|
UTSW |
14 |
24,204,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4802:Dlg5
|
UTSW |
14 |
24,204,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4946:Dlg5
|
UTSW |
14 |
24,204,429 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5022:Dlg5
|
UTSW |
14 |
24,186,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5023:Dlg5
|
UTSW |
14 |
24,186,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5234:Dlg5
|
UTSW |
14 |
24,242,930 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5561:Dlg5
|
UTSW |
14 |
24,227,860 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5567:Dlg5
|
UTSW |
14 |
24,242,981 (GRCm39) |
nonsense |
probably null |
|
|
R5570:Dlg5
|
UTSW |
14 |
24,242,981 (GRCm39) |
nonsense |
probably null |
|
|
R5640:Dlg5
|
UTSW |
14 |
24,220,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5646:Dlg5
|
UTSW |
14 |
24,208,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5711:Dlg5
|
UTSW |
14 |
24,200,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5810:Dlg5
|
UTSW |
14 |
24,196,322 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5900:Dlg5
|
UTSW |
14 |
24,199,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5964:Dlg5
|
UTSW |
14 |
24,214,157 (GRCm39) |
missense |
probably benign |
|
|
R6190:Dlg5
|
UTSW |
14 |
24,240,506 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6240:Dlg5
|
UTSW |
14 |
24,199,596 (GRCm39) |
splice site |
probably null |
|
|
R6276:Dlg5
|
UTSW |
14 |
24,214,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6339:Dlg5
|
UTSW |
14 |
24,208,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6508:Dlg5
|
UTSW |
14 |
24,188,774 (GRCm39) |
missense |
probably benign |
0.45 |
|
R6527:Dlg5
|
UTSW |
14 |
24,240,516 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6593:Dlg5
|
UTSW |
14 |
24,200,720 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6687:Dlg5
|
UTSW |
14 |
24,240,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6965:Dlg5
|
UTSW |
14 |
24,199,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7051:Dlg5
|
UTSW |
14 |
24,196,263 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7075:Dlg5
|
UTSW |
14 |
24,227,865 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R7149:Dlg5
|
UTSW |
14 |
24,240,492 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7182:Dlg5
|
UTSW |
14 |
24,294,924 (GRCm39) |
missense |
|
|
|
R7203:Dlg5
|
UTSW |
14 |
24,188,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7216:Dlg5
|
UTSW |
14 |
24,186,706 (GRCm39) |
nonsense |
probably null |
|
|
R7359:Dlg5
|
UTSW |
14 |
24,214,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7466:Dlg5
|
UTSW |
14 |
24,295,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7485:Dlg5
|
UTSW |
14 |
24,227,907 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7485:Dlg5
|
UTSW |
14 |
24,198,390 (GRCm39) |
missense |
probably benign |
|
|
R7629:Dlg5
|
UTSW |
14 |
24,295,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7666:Dlg5
|
UTSW |
14 |
24,207,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7804:Dlg5
|
UTSW |
14 |
24,215,388 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7861:Dlg5
|
UTSW |
14 |
24,295,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7862:Dlg5
|
UTSW |
14 |
24,295,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7864:Dlg5
|
UTSW |
14 |
24,295,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7874:Dlg5
|
UTSW |
14 |
24,185,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7913:Dlg5
|
UTSW |
14 |
24,187,192 (GRCm39) |
splice site |
probably null |
|
|
R7981:Dlg5
|
UTSW |
14 |
24,208,213 (GRCm39) |
missense |
probably benign |
|
|
R8147:Dlg5
|
UTSW |
14 |
24,208,395 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8204:Dlg5
|
UTSW |
14 |
24,210,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8206:Dlg5
|
UTSW |
14 |
24,210,336 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R8287:Dlg5
|
UTSW |
14 |
24,214,453 (GRCm39) |
missense |
probably benign |
0.40 |
|
R8296:Dlg5
|
UTSW |
14 |
24,198,328 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8317:Dlg5
|
UTSW |
14 |
24,241,298 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8327:Dlg5
|
UTSW |
14 |
24,196,388 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8352:Dlg5
|
UTSW |
14 |
24,241,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8353:Dlg5
|
UTSW |
14 |
24,208,213 (GRCm39) |
missense |
probably benign |
|
|
R8409:Dlg5
|
UTSW |
14 |
24,226,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8452:Dlg5
|
UTSW |
14 |
24,241,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8453:Dlg5
|
UTSW |
14 |
24,208,213 (GRCm39) |
missense |
probably benign |
|
|
R8540:Dlg5
|
UTSW |
14 |
24,208,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8701:Dlg5
|
UTSW |
14 |
24,226,768 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8925:Dlg5
|
UTSW |
14 |
24,206,547 (GRCm39) |
missense |
|
|
|
R8927:Dlg5
|
UTSW |
14 |
24,206,547 (GRCm39) |
missense |
|
|
|
R9025:Dlg5
|
UTSW |
14 |
24,199,546 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9102:Dlg5
|
UTSW |
14 |
24,199,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9138:Dlg5
|
UTSW |
14 |
24,295,376 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9165:Dlg5
|
UTSW |
14 |
24,196,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9250:Dlg5
|
UTSW |
14 |
24,240,543 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9267:Dlg5
|
UTSW |
14 |
24,204,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9269:Dlg5
|
UTSW |
14 |
24,242,881 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9291:Dlg5
|
UTSW |
14 |
24,241,229 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9387:Dlg5
|
UTSW |
14 |
24,197,168 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9729:Dlg5
|
UTSW |
14 |
24,204,681 (GRCm39) |
missense |
probably benign |
0.00 |
|
RF005:Dlg5
|
UTSW |
14 |
24,208,561 (GRCm39) |
nonsense |
probably null |
|
|
YA93:Dlg5
|
UTSW |
14 |
24,205,201 (GRCm39) |
unclassified |
probably benign |
|
|
Z1088:Dlg5
|
UTSW |
14 |
24,208,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGCCGAATGTCTATGTAATGAAG -3'
(R):5'- GGCTGTTCATTTAGGGGAAAGC -3'
Sequencing Primer
(F):5'- CGAATGTCTATGTAATGAAGGGTATG -3'
(R):5'- GGAAAGCTCCCTAGATCCCCTG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation