Incidental Mutation 'R6029:Dlg1'
| ID |
480291 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dlg1
|
| Ensembl Gene |
ENSMUSG00000022770 |
| Gene Name |
discs large MAGUK scaffold protein 1 |
| Synonyms |
B130052P05Rik, SAP97, Dlgh1 |
| MMRRC Submission |
044201-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6029 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
31482261-31692174 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 31612388 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 317
(V317E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138782
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023454]
[ENSMUST00000064477]
[ENSMUST00000100001]
[ENSMUST00000115196]
[ENSMUST00000115201]
[ENSMUST00000115205]
[ENSMUST00000132176]
|
| AlphaFold |
Q811D0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023454
AA Change: V317E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023454
Gene: ENSMUSG00000022770
AA Change: V317E
| Domain | Start | End | E-Value | Type |
|---|
|
L27
|
7 |
67 |
7.33e-12 |
SMART |
|
MAGUK_N_PEST
|
106 |
190 |
4.33e-44 |
SMART |
|
PDZ
|
199 |
278 |
5.98e-22 |
SMART |
|
PDZ
|
294 |
373 |
1.94e-21 |
SMART |
|
PDZ
|
441 |
514 |
1.84e-22 |
SMART |
|
low complexity region
|
534 |
542 |
N/A |
INTRINSIC |
|
SH3
|
551 |
617 |
1.27e-9 |
SMART |
|
GuKc
|
681 |
860 |
1.54e-75 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064477
AA Change: V350E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000064280
Gene: ENSMUSG00000022770
AA Change: V350E
| Domain | Start | End | E-Value | Type |
|---|
|
L27
|
7 |
67 |
7.33e-12 |
SMART |
|
MAGUK_N_PEST
|
106 |
223 |
6.07e-57 |
SMART |
|
PDZ
|
232 |
311 |
5.98e-22 |
SMART |
|
PDZ
|
327 |
406 |
1.94e-21 |
SMART |
|
PDZ
|
474 |
547 |
1.84e-22 |
SMART |
|
low complexity region
|
567 |
575 |
N/A |
INTRINSIC |
|
SH3
|
584 |
650 |
1.27e-9 |
SMART |
|
GuKc
|
736 |
915 |
1.54e-75 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100001
AA Change: V350E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097581
Gene: ENSMUSG00000022770
AA Change: V350E
| Domain | Start | End | E-Value | Type |
|---|
|
L27
|
7 |
67 |
7.33e-12 |
SMART |
|
MAGUK_N_PEST
|
106 |
223 |
6.07e-57 |
SMART |
|
PDZ
|
232 |
311 |
5.98e-22 |
SMART |
|
PDZ
|
327 |
406 |
1.94e-21 |
SMART |
|
PDZ
|
474 |
547 |
1.84e-22 |
SMART |
|
low complexity region
|
567 |
575 |
N/A |
INTRINSIC |
|
SH3
|
584 |
650 |
1.27e-9 |
SMART |
|
GuKc
|
714 |
893 |
1.54e-75 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115196
AA Change: V267E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110850
Gene: ENSMUSG00000022770
AA Change: V267E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
27 |
N/A |
INTRINSIC |
|
MAGUK_N_PEST
|
30 |
140 |
1.81e-14 |
SMART |
|
PDZ
|
149 |
228 |
5.98e-22 |
SMART |
|
PDZ
|
244 |
323 |
1.94e-21 |
SMART |
|
PDZ
|
391 |
464 |
1.84e-22 |
SMART |
|
low complexity region
|
484 |
492 |
N/A |
INTRINSIC |
|
SH3
|
501 |
567 |
1.27e-9 |
SMART |
|
GuKc
|
643 |
822 |
1.54e-75 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115201
AA Change: V350E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110855
Gene: ENSMUSG00000022770
AA Change: V350E
| Domain | Start | End | E-Value | Type |
|---|
|
L27
|
7 |
67 |
7.33e-12 |
SMART |
|
MAGUK_N_PEST
|
106 |
223 |
6.07e-57 |
SMART |
|
PDZ
|
232 |
311 |
5.98e-22 |
SMART |
|
PDZ
|
327 |
406 |
1.94e-21 |
SMART |
|
PDZ
|
474 |
547 |
1.84e-22 |
SMART |
|
low complexity region
|
567 |
575 |
N/A |
INTRINSIC |
|
SH3
|
584 |
650 |
1.27e-9 |
SMART |
|
GuKc
|
721 |
900 |
1.54e-75 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115205
AA Change: V350E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110859
Gene: ENSMUSG00000022770
AA Change: V350E
| Domain | Start | End | E-Value | Type |
|---|
|
L27
|
7 |
67 |
7.33e-12 |
SMART |
|
MAGUK_N_PEST
|
106 |
223 |
6.07e-57 |
SMART |
|
PDZ
|
232 |
311 |
5.98e-22 |
SMART |
|
PDZ
|
327 |
406 |
1.94e-21 |
SMART |
|
PDZ
|
474 |
547 |
1.84e-22 |
SMART |
|
low complexity region
|
567 |
575 |
N/A |
INTRINSIC |
|
SH3
|
584 |
650 |
1.27e-9 |
SMART |
|
GuKc
|
714 |
893 |
1.54e-75 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000131136
AA Change: V60E
|
| SMART Domains |
Protein: ENSMUSP00000115954
Gene: ENSMUSG00000022770
AA Change: V60E
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
38 |
117 |
1.94e-21 |
SMART |
|
PDZ
|
170 |
243 |
1.84e-22 |
SMART |
|
low complexity region
|
263 |
271 |
N/A |
INTRINSIC |
|
SH3
|
280 |
346 |
1.27e-9 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000132176
AA Change: V317E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138782
Gene: ENSMUSG00000022770
AA Change: V317E
| Domain | Start | End | E-Value | Type |
|---|
|
L27
|
7 |
67 |
7.33e-12 |
SMART |
|
MAGUK_N_PEST
|
106 |
190 |
4.33e-44 |
SMART |
|
PDZ
|
199 |
278 |
5.98e-22 |
SMART |
|
PDZ
|
294 |
373 |
1.94e-21 |
SMART |
|
PDZ
|
426 |
499 |
1.84e-22 |
SMART |
|
low complexity region
|
519 |
527 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9595 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.7%
|
| Validation Efficiency |
97% (87/90) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multi-domain scaffolding protein that is required for normal development. This protein may have a role in septate junction formation, signal transduction, cell proliferation, synaptogenesis and lymphocyte activation. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene, but the full-length nature of some of the variants is not known. [provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit neonatal lethality, craniofacial defects, and abnormal eye morphology. Mice homozygous for knock-out alleles exhibit neonatal lethality, kidney defects, reproductive organ morphology, and cleft palate. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 90 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
G |
A |
2: 68,524,370 (GRCm39) |
|
probably null |
Het |
| Adi1 |
G |
A |
12: 28,729,318 (GRCm39) |
|
probably benign |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,066,243 (GRCm39) |
E4371G |
probably damaging |
Het |
| Ash1l |
T |
C |
3: 88,892,326 (GRCm39) |
Y1402H |
probably damaging |
Het |
| Aspm |
T |
G |
1: 139,408,728 (GRCm39) |
C2538W |
possibly damaging |
Het |
| Brd10 |
A |
G |
19: 29,732,367 (GRCm39) |
|
probably benign |
Het |
| Btbd16 |
T |
C |
7: 130,420,802 (GRCm39) |
V353A |
probably benign |
Het |
| Cad |
C |
T |
5: 31,212,327 (GRCm39) |
S10L |
possibly damaging |
Het |
| Cdc42bpa |
T |
C |
1: 179,939,352 (GRCm39) |
S877P |
probably damaging |
Het |
| Cep152 |
A |
T |
2: 125,405,552 (GRCm39) |
V1660D |
probably benign |
Het |
| Clrn2 |
G |
T |
5: 45,617,528 (GRCm39) |
G133V |
probably damaging |
Het |
| Clstn2 |
T |
C |
9: 97,338,634 (GRCm39) |
I842V |
probably benign |
Het |
| Cpt1c |
C |
T |
7: 44,614,548 (GRCm39) |
A434T |
probably benign |
Het |
| D130052B06Rik |
G |
T |
11: 33,573,477 (GRCm39) |
V70L |
possibly damaging |
Het |
| Dock10 |
T |
C |
1: 80,514,663 (GRCm39) |
E1084G |
possibly damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,157,646 (GRCm39) |
V827A |
probably benign |
Het |
| E030030I06Rik |
A |
G |
10: 22,024,832 (GRCm39) |
L27P |
unknown |
Het |
| Ero1b |
T |
A |
13: 12,589,714 (GRCm39) |
L39Q |
probably damaging |
Het |
| Erp27 |
T |
C |
6: 136,888,609 (GRCm39) |
D123G |
probably damaging |
Het |
| Fasn |
G |
T |
11: 120,711,735 (GRCm39) |
F148L |
probably damaging |
Het |
| Fbxl5 |
T |
C |
5: 43,922,746 (GRCm39) |
E218G |
probably damaging |
Het |
| Fbxw28 |
A |
T |
9: 109,158,493 (GRCm39) |
D210E |
probably damaging |
Het |
| Gm10653 |
T |
A |
9: 62,748,796 (GRCm39) |
|
probably benign |
Het |
| Gm17067 |
A |
G |
7: 42,357,554 (GRCm39) |
L316S |
probably benign |
Het |
| Gm29106 |
T |
C |
1: 118,127,990 (GRCm39) |
S561P |
probably damaging |
Het |
| Hmcn1 |
C |
A |
1: 150,508,188 (GRCm39) |
K3699N |
probably benign |
Het |
| Itch |
T |
A |
2: 155,021,009 (GRCm39) |
|
probably null |
Het |
| Itpr3 |
C |
T |
17: 27,317,145 (GRCm39) |
A800V |
probably damaging |
Het |
| Kdm2b |
A |
T |
5: 123,017,650 (GRCm39) |
M1052K |
probably damaging |
Het |
| Kdm4b |
T |
C |
17: 56,703,576 (GRCm39) |
M712T |
probably damaging |
Het |
| Kmt5b |
A |
G |
19: 3,852,104 (GRCm39) |
E137G |
probably damaging |
Het |
| Krt33a |
G |
A |
11: 99,903,289 (GRCm39) |
T251I |
probably benign |
Het |
| Lrrc4b |
G |
T |
7: 44,111,754 (GRCm39) |
R542L |
probably benign |
Het |
| Macf1 |
C |
A |
4: 123,401,126 (GRCm39) |
S653I |
probably damaging |
Het |
| Macrod2 |
G |
A |
2: 142,160,367 (GRCm39) |
V408M |
probably damaging |
Het |
| Macroh2a2 |
T |
C |
10: 61,583,541 (GRCm39) |
T200A |
possibly damaging |
Het |
| Mapkapk3 |
G |
T |
9: 107,166,425 (GRCm39) |
A40E |
possibly damaging |
Het |
| Mmp20 |
G |
A |
9: 7,639,302 (GRCm39) |
V157I |
probably benign |
Het |
| Mrps28 |
T |
C |
3: 8,988,805 (GRCm39) |
R18G |
possibly damaging |
Het |
| Msrb2 |
T |
A |
2: 19,399,122 (GRCm39) |
C162S |
probably damaging |
Het |
| Naa80 |
A |
G |
9: 107,460,753 (GRCm39) |
Y216C |
probably damaging |
Het |
| Nckap5 |
T |
G |
1: 125,953,523 (GRCm39) |
T1078P |
possibly damaging |
Het |
| Nectin3 |
T |
C |
16: 46,256,763 (GRCm39) |
Y91C |
probably benign |
Het |
| Nf2 |
G |
T |
11: 4,734,566 (GRCm39) |
|
probably null |
Het |
| Or10d1b |
G |
A |
9: 39,613,696 (GRCm39) |
A123V |
probably damaging |
Het |
| Or13a23-ps1 |
A |
T |
7: 140,118,789 (GRCm39) |
M120L |
unknown |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or2y10 |
A |
T |
11: 49,455,428 (GRCm39) |
I227F |
possibly damaging |
Het |
| Or4c29 |
T |
C |
2: 88,740,380 (GRCm39) |
D119G |
probably damaging |
Het |
| Or4g7 |
T |
A |
2: 111,309,310 (GRCm39) |
Y60* |
probably null |
Het |
| Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
| Oxr1 |
T |
G |
15: 41,689,297 (GRCm39) |
L507W |
probably damaging |
Het |
| Plxna2 |
A |
T |
1: 194,481,883 (GRCm39) |
K1451M |
probably damaging |
Het |
| Plxna2 |
A |
G |
1: 194,476,735 (GRCm39) |
M1184V |
probably benign |
Het |
| Pofut1 |
G |
A |
2: 153,101,713 (GRCm39) |
|
probably null |
Het |
| Ppp1r16b |
T |
C |
2: 158,597,137 (GRCm39) |
V257A |
possibly damaging |
Het |
| Prss56 |
G |
A |
1: 87,115,279 (GRCm39) |
W498* |
probably null |
Het |
| Ptpru |
A |
G |
4: 131,498,604 (GRCm39) |
F1329S |
probably damaging |
Het |
| Pusl1 |
A |
G |
4: 155,973,920 (GRCm39) |
F278S |
probably damaging |
Het |
| Qars1 |
A |
T |
9: 108,390,889 (GRCm39) |
L470F |
probably damaging |
Het |
| Rbm8a2 |
T |
C |
1: 175,806,312 (GRCm39) |
D55G |
probably benign |
Het |
| Rora |
T |
A |
9: 69,271,734 (GRCm39) |
N181K |
probably benign |
Het |
| Rufy3 |
A |
G |
5: 88,775,114 (GRCm39) |
D262G |
probably damaging |
Het |
| Sh3gl2 |
G |
A |
4: 85,299,651 (GRCm39) |
V212M |
probably damaging |
Het |
| Sis |
G |
A |
3: 72,835,641 (GRCm39) |
T907I |
probably benign |
Het |
| Slc38a3 |
A |
T |
9: 107,529,374 (GRCm39) |
I456N |
probably damaging |
Het |
| Slc4a8 |
T |
A |
15: 100,705,220 (GRCm39) |
C809S |
probably benign |
Het |
| Snap91 |
A |
T |
9: 86,707,133 (GRCm39) |
|
probably null |
Het |
| Spaca6 |
A |
G |
17: 18,051,458 (GRCm39) |
T45A |
probably benign |
Het |
| Speer1m |
A |
T |
5: 11,970,680 (GRCm39) |
L84F |
probably damaging |
Het |
| Spry1 |
T |
C |
3: 37,696,997 (GRCm39) |
I80T |
possibly damaging |
Het |
| St8sia2 |
A |
G |
7: 73,610,458 (GRCm39) |
L275P |
possibly damaging |
Het |
| Supt7l |
C |
A |
5: 31,684,331 (GRCm39) |
|
probably null |
Het |
| Tdo2 |
T |
A |
3: 81,868,747 (GRCm39) |
K304N |
probably damaging |
Het |
| Tdrd12 |
A |
T |
7: 35,184,655 (GRCm39) |
Y753N |
probably damaging |
Het |
| Topbp1 |
A |
T |
9: 103,222,152 (GRCm39) |
Q1341L |
probably benign |
Het |
| Trim14 |
G |
T |
4: 46,506,998 (GRCm39) |
A406E |
probably benign |
Het |
| Trp63 |
C |
T |
16: 25,686,964 (GRCm39) |
R393W |
probably damaging |
Het |
| Trrap |
T |
C |
5: 144,754,489 (GRCm39) |
V1932A |
possibly damaging |
Het |
| Trrap |
T |
C |
5: 144,762,724 (GRCm39) |
M2399T |
possibly damaging |
Het |
| Unc45b |
A |
G |
11: 82,804,153 (GRCm39) |
N110S |
probably damaging |
Het |
| Usp32 |
G |
T |
11: 84,916,408 (GRCm39) |
H845Q |
probably damaging |
Het |
| Usp44 |
G |
A |
10: 93,682,494 (GRCm39) |
D268N |
probably damaging |
Het |
| Vmn1r18 |
T |
G |
6: 57,367,451 (GRCm39) |
R34S |
possibly damaging |
Het |
| Vmn2r103 |
T |
A |
17: 20,014,478 (GRCm39) |
Y423* |
probably null |
Het |
| Wapl |
A |
T |
14: 34,461,204 (GRCm39) |
E1054V |
possibly damaging |
Het |
| Zbtb8b |
A |
G |
4: 129,322,286 (GRCm39) |
Y392H |
probably damaging |
Het |
| Zdhhc2 |
A |
T |
8: 40,925,968 (GRCm39) |
Q321L |
probably null |
Het |
| Zfp983 |
A |
G |
17: 21,881,401 (GRCm39) |
D443G |
probably benign |
Het |
|
| Other mutations in Dlg1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01604:Dlg1
|
APN |
16 |
31,675,256 (GRCm39) |
splice site |
probably benign |
|
|
IGL02277:Dlg1
|
APN |
16 |
31,609,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02897:Dlg1
|
APN |
16 |
31,590,674 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03025:Dlg1
|
APN |
16 |
31,624,545 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03271:Dlg1
|
APN |
16 |
31,676,710 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
PIT4812001:Dlg1
|
UTSW |
16 |
31,665,703 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0068:Dlg1
|
UTSW |
16 |
31,655,018 (GRCm39) |
unclassified |
probably benign |
|
|
R0115:Dlg1
|
UTSW |
16 |
31,624,508 (GRCm39) |
nonsense |
probably null |
|
|
R0128:Dlg1
|
UTSW |
16 |
31,676,883 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0257:Dlg1
|
UTSW |
16 |
31,661,671 (GRCm39) |
splice site |
probably benign |
|
|
R0268:Dlg1
|
UTSW |
16 |
31,503,011 (GRCm39) |
missense |
probably benign |
|
|
R0312:Dlg1
|
UTSW |
16 |
31,609,085 (GRCm39) |
missense |
probably benign |
|
|
R0321:Dlg1
|
UTSW |
16 |
31,676,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0355:Dlg1
|
UTSW |
16 |
31,502,992 (GRCm39) |
nonsense |
probably null |
|
|
R0538:Dlg1
|
UTSW |
16 |
31,615,682 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0540:Dlg1
|
UTSW |
16 |
31,656,992 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0607:Dlg1
|
UTSW |
16 |
31,656,992 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0607:Dlg1
|
UTSW |
16 |
31,484,398 (GRCm39) |
missense |
probably benign |
0.37 |
|
R0894:Dlg1
|
UTSW |
16 |
31,561,965 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1107:Dlg1
|
UTSW |
16 |
31,665,734 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1349:Dlg1
|
UTSW |
16 |
31,631,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1372:Dlg1
|
UTSW |
16 |
31,631,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1468:Dlg1
|
UTSW |
16 |
31,661,640 (GRCm39) |
splice site |
probably null |
|
|
R1468:Dlg1
|
UTSW |
16 |
31,661,640 (GRCm39) |
splice site |
probably null |
|
|
R1696:Dlg1
|
UTSW |
16 |
31,600,616 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1772:Dlg1
|
UTSW |
16 |
31,484,485 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1795:Dlg1
|
UTSW |
16 |
31,561,965 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2106:Dlg1
|
UTSW |
16 |
31,631,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2206:Dlg1
|
UTSW |
16 |
31,672,664 (GRCm39) |
missense |
probably benign |
0.18 |
|
R2207:Dlg1
|
UTSW |
16 |
31,672,664 (GRCm39) |
missense |
probably benign |
0.18 |
|
R2846:Dlg1
|
UTSW |
16 |
31,682,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3954:Dlg1
|
UTSW |
16 |
31,676,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4714:Dlg1
|
UTSW |
16 |
31,609,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4758:Dlg1
|
UTSW |
16 |
31,610,570 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4898:Dlg1
|
UTSW |
16 |
31,676,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4964:Dlg1
|
UTSW |
16 |
31,573,626 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4966:Dlg1
|
UTSW |
16 |
31,573,626 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4985:Dlg1
|
UTSW |
16 |
31,606,953 (GRCm39) |
splice site |
probably null |
|
|
R5068:Dlg1
|
UTSW |
16 |
31,503,113 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5069:Dlg1
|
UTSW |
16 |
31,503,113 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5078:Dlg1
|
UTSW |
16 |
31,675,287 (GRCm39) |
nonsense |
probably null |
|
|
R5090:Dlg1
|
UTSW |
16 |
31,656,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5225:Dlg1
|
UTSW |
16 |
31,655,085 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5888:Dlg1
|
UTSW |
16 |
31,610,704 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5950:Dlg1
|
UTSW |
16 |
31,484,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6132:Dlg1
|
UTSW |
16 |
31,655,059 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6246:Dlg1
|
UTSW |
16 |
31,484,468 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6294:Dlg1
|
UTSW |
16 |
31,656,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6322:Dlg1
|
UTSW |
16 |
31,675,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7147:Dlg1
|
UTSW |
16 |
31,610,672 (GRCm39) |
missense |
probably benign |
|
|
R7216:Dlg1
|
UTSW |
16 |
31,615,736 (GRCm39) |
frame shift |
probably null |
|
|
R7963:Dlg1
|
UTSW |
16 |
31,609,119 (GRCm39) |
missense |
probably null |
0.92 |
|
R7985:Dlg1
|
UTSW |
16 |
31,606,923 (GRCm39) |
nonsense |
probably null |
|
|
R8041:Dlg1
|
UTSW |
16 |
31,656,885 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8111:Dlg1
|
UTSW |
16 |
31,661,620 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8751:Dlg1
|
UTSW |
16 |
31,600,648 (GRCm39) |
missense |
probably benign |
|
|
R9052:Dlg1
|
UTSW |
16 |
31,656,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9674:Dlg1
|
UTSW |
16 |
31,610,580 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9725:Dlg1
|
UTSW |
16 |
31,665,683 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9741:Dlg1
|
UTSW |
16 |
31,676,735 (GRCm39) |
nonsense |
probably null |
|
|
X0021:Dlg1
|
UTSW |
16 |
31,484,526 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TAGTAAGACGCATAGTTAGGTACG -3'
(R):5'- AGTAACACCACGGATTCCTG -3'
Sequencing Primer
(F):5'- TGTCTGTACCACATGAGTACCAGG -3'
(R):5'- ACGGATTCCTGCATCTGACAG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation