Incidental Mutation 'R0540:Dlg1'
| ID |
49866 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dlg1
|
| Ensembl Gene |
ENSMUSG00000022770 |
| Gene Name |
discs large MAGUK scaffold protein 1 |
| Synonyms |
B130052P05Rik, SAP97, Dlgh1 |
| MMRRC Submission |
038732-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0540 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
31482261-31692174 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 31656992 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 596
(V596I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023454
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023454]
[ENSMUST00000064477]
[ENSMUST00000100001]
[ENSMUST00000115196]
[ENSMUST00000115201]
[ENSMUST00000115205]
[ENSMUST00000132176]
|
| AlphaFold |
Q811D0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023454
AA Change: V596I
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000023454
Gene: ENSMUSG00000022770
AA Change: V596I
| 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 |
possibly damaging
Transcript: ENSMUST00000064477
AA Change: V629I
PolyPhen 2
Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000064280
Gene: ENSMUSG00000022770
AA Change: V629I
| 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 |
possibly damaging
Transcript: ENSMUST00000100001
AA Change: V629I
PolyPhen 2
Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000097581
Gene: ENSMUSG00000022770
AA Change: V629I
| 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 |
possibly damaging
Transcript: ENSMUST00000115196
AA Change: V546I
PolyPhen 2
Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000110850
Gene: ENSMUSG00000022770
AA Change: V546I
| 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 |
possibly damaging
Transcript: ENSMUST00000115201
AA Change: V629I
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000110855
Gene: ENSMUSG00000022770
AA Change: V629I
| 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 |
possibly damaging
Transcript: ENSMUST00000115205
AA Change: V629I
PolyPhen 2
Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000110859
Gene: ENSMUSG00000022770
AA Change: V629I
| 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 benign
Transcript: ENSMUST00000130920
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147382
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000131136
AA Change: V324I
|
| SMART Domains |
Protein: ENSMUSP00000115954
Gene: ENSMUSG00000022770
AA Change: V324I
| 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 |
noncoding transcript
Transcript: ENSMUST00000137322
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132176
|
| SMART Domains |
Protein: ENSMUSP00000138782
Gene: ENSMUSG00000022770
| 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 |
|
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 96.8%
- 20x: 93.7%
|
| Validation Efficiency |
|
| 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: 101 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2 |
A |
G |
3: 59,926,627 (GRCm39) |
T199A |
possibly damaging |
Het |
| Als2cl |
C |
A |
9: 110,724,852 (GRCm39) |
Y775* |
probably null |
Het |
| Ankhd1 |
G |
T |
18: 36,773,333 (GRCm39) |
V59F |
probably damaging |
Het |
| Ano4 |
T |
A |
10: 88,859,806 (GRCm39) |
I395F |
probably benign |
Het |
| Apcdd1 |
A |
G |
18: 63,084,967 (GRCm39) |
N388S |
possibly damaging |
Het |
| Arl9 |
A |
G |
5: 77,155,118 (GRCm39) |
Y83C |
possibly damaging |
Het |
| Armc2 |
T |
A |
10: 41,798,691 (GRCm39) |
H706L |
probably benign |
Het |
| Arrb1 |
T |
C |
7: 99,237,403 (GRCm39) |
|
probably null |
Het |
| Atxn1 |
G |
A |
13: 45,711,006 (GRCm39) |
S642L |
probably damaging |
Het |
| Bmp8a |
A |
G |
4: 123,209,723 (GRCm39) |
Y322H |
probably damaging |
Het |
| Btbd3 |
C |
T |
2: 138,125,736 (GRCm39) |
R307W |
possibly damaging |
Het |
| C1galt1 |
T |
C |
6: 7,871,193 (GRCm39) |
I343T |
probably benign |
Het |
| Capn2 |
A |
T |
1: 182,319,749 (GRCm39) |
Y146* |
probably null |
Het |
| Ccdc42 |
C |
T |
11: 68,488,536 (GRCm39) |
Q312* |
probably null |
Het |
| Cd209e |
T |
C |
8: 3,901,265 (GRCm39) |
K130E |
probably benign |
Het |
| Chd3 |
T |
C |
11: 69,235,184 (GRCm39) |
D2054G |
probably damaging |
Het |
| Chrna1 |
T |
C |
2: 73,401,815 (GRCm39) |
N161S |
probably damaging |
Het |
| Clp1 |
C |
T |
2: 84,555,935 (GRCm39) |
A182T |
possibly damaging |
Het |
| Cpsf7 |
G |
T |
19: 10,510,682 (GRCm39) |
E135* |
probably null |
Het |
| Csf2rb2 |
T |
C |
15: 78,172,108 (GRCm39) |
Y325C |
probably benign |
Het |
| Cspg5 |
T |
C |
9: 110,076,460 (GRCm39) |
|
probably null |
Het |
| Ctnna2 |
T |
C |
6: 76,879,413 (GRCm39) |
T824A |
probably benign |
Het |
| Cyp2b13 |
G |
A |
7: 25,781,136 (GRCm39) |
V183I |
probably benign |
Het |
| D430041D05Rik |
C |
T |
2: 104,063,790 (GRCm39) |
R1354H |
probably damaging |
Het |
| Ddx24 |
A |
G |
12: 103,385,326 (GRCm39) |
Y426H |
possibly damaging |
Het |
| Dexi |
G |
T |
16: 10,360,426 (GRCm39) |
Y43* |
probably null |
Het |
| Dnah11 |
A |
C |
12: 118,046,246 (GRCm39) |
W1731G |
probably damaging |
Het |
| Dnhd1 |
T |
A |
7: 105,369,995 (GRCm39) |
N4473K |
probably benign |
Het |
| Dync2h1 |
A |
C |
9: 7,051,480 (GRCm39) |
S3152A |
probably benign |
Het |
| Edn3 |
C |
A |
2: 174,602,767 (GRCm39) |
P3Q |
probably damaging |
Het |
| Eif2a |
G |
A |
3: 58,463,073 (GRCm39) |
|
probably null |
Het |
| Emb |
G |
A |
13: 117,369,286 (GRCm39) |
V56I |
possibly damaging |
Het |
| Enpp4 |
A |
T |
17: 44,410,386 (GRCm39) |
C397S |
probably damaging |
Het |
| Exo5 |
A |
G |
4: 120,779,178 (GRCm39) |
V229A |
probably damaging |
Het |
| Fga |
G |
A |
3: 82,935,869 (GRCm39) |
G32E |
probably damaging |
Het |
| Fkbpl |
T |
C |
17: 34,864,333 (GRCm39) |
F34L |
probably benign |
Het |
| Fsd2 |
T |
A |
7: 81,194,765 (GRCm39) |
D466V |
probably damaging |
Het |
| Gcn1 |
T |
C |
5: 115,727,015 (GRCm39) |
V624A |
probably benign |
Het |
| Git2 |
A |
G |
5: 114,886,335 (GRCm39) |
F336L |
probably damaging |
Het |
| Greb1 |
T |
A |
12: 16,732,194 (GRCm39) |
Y1589F |
probably damaging |
Het |
| H2-K2 |
G |
T |
17: 34,218,474 (GRCm39) |
D127E |
probably damaging |
Het |
| Ints8 |
A |
G |
4: 11,252,926 (GRCm39) |
V52A |
possibly damaging |
Het |
| Kifc1 |
G |
A |
17: 34,105,621 (GRCm39) |
T62I |
probably damaging |
Het |
| Klhl6 |
C |
A |
16: 19,775,764 (GRCm39) |
D265Y |
possibly damaging |
Het |
| Kmt5a |
T |
A |
5: 124,589,373 (GRCm39) |
N190K |
probably damaging |
Het |
| Lce6a |
A |
T |
3: 92,527,635 (GRCm39) |
H57Q |
probably benign |
Het |
| Lipo3 |
A |
T |
19: 33,536,967 (GRCm39) |
I251K |
possibly damaging |
Het |
| Lnpep |
A |
T |
17: 17,758,816 (GRCm39) |
F843I |
probably damaging |
Het |
| Lrrc45 |
C |
T |
11: 120,605,988 (GRCm39) |
R99* |
probably null |
Het |
| Lrrtm1 |
C |
A |
6: 77,221,611 (GRCm39) |
A356E |
probably damaging |
Het |
| Map3k1 |
A |
C |
13: 111,900,044 (GRCm39) |
H493Q |
probably benign |
Het |
| Mcm4 |
A |
T |
16: 15,449,979 (GRCm39) |
|
probably null |
Het |
| Mllt3 |
G |
A |
4: 87,759,281 (GRCm39) |
P256S |
possibly damaging |
Het |
| Mrtfb |
A |
G |
16: 13,199,465 (GRCm39) |
E106G |
probably damaging |
Het |
| Myo7a |
T |
A |
7: 97,721,153 (GRCm39) |
T1271S |
probably damaging |
Het |
| Ncan |
C |
A |
8: 70,567,809 (GRCm39) |
R101L |
possibly damaging |
Het |
| Ndufaf7 |
A |
G |
17: 79,253,885 (GRCm39) |
D361G |
probably benign |
Het |
| Neurod6 |
C |
T |
6: 55,656,572 (GRCm39) |
A22T |
probably benign |
Het |
| Nexn |
T |
A |
3: 151,953,879 (GRCm39) |
K192* |
probably null |
Het |
| Nipsnap2 |
A |
T |
5: 129,831,909 (GRCm39) |
Y234F |
probably damaging |
Het |
| Nlrp10 |
T |
C |
7: 108,523,492 (GRCm39) |
K663E |
probably benign |
Het |
| Nprl2 |
A |
T |
9: 107,422,497 (GRCm39) |
Y329F |
possibly damaging |
Het |
| Nr2f2 |
C |
A |
7: 70,004,460 (GRCm39) |
R264L |
probably damaging |
Het |
| Nsun7 |
A |
T |
5: 66,440,977 (GRCm39) |
K366I |
probably damaging |
Het |
| Nup35 |
T |
A |
2: 80,472,984 (GRCm39) |
M19K |
probably benign |
Het |
| Or10a4 |
T |
A |
7: 106,696,933 (GRCm39) |
I87K |
probably benign |
Het |
| Or11i1 |
A |
T |
3: 106,729,829 (GRCm39) |
F15L |
probably damaging |
Het |
| Or1ad6 |
C |
A |
11: 50,860,670 (GRCm39) |
A275D |
possibly damaging |
Het |
| Or2v1 |
C |
G |
11: 49,025,549 (GRCm39) |
H177D |
probably damaging |
Het |
| Or2w2 |
T |
A |
13: 21,757,948 (GRCm39) |
Y226F |
probably benign |
Het |
| Or5af1 |
T |
A |
11: 58,722,798 (GRCm39) |
S273T |
probably damaging |
Het |
| Or5p51 |
A |
G |
7: 107,444,776 (GRCm39) |
S55P |
probably damaging |
Het |
| Patl2 |
T |
C |
2: 121,957,150 (GRCm39) |
Y128C |
probably benign |
Het |
| Pcdhac2 |
A |
G |
18: 37,278,942 (GRCm39) |
I641V |
probably benign |
Het |
| Peli3 |
T |
C |
19: 4,991,939 (GRCm39) |
M1V |
probably null |
Het |
| Pex16 |
T |
A |
2: 92,205,982 (GRCm39) |
L25* |
probably null |
Het |
| Plekhn1 |
C |
A |
4: 156,307,204 (GRCm39) |
A449S |
possibly damaging |
Het |
| Pot1b |
A |
T |
17: 55,972,765 (GRCm39) |
I469N |
probably damaging |
Het |
| Prdx6 |
A |
C |
1: 161,078,673 (GRCm39) |
L5W |
probably damaging |
Het |
| Prrc1 |
G |
A |
18: 57,507,622 (GRCm39) |
V259I |
possibly damaging |
Het |
| Prss38 |
T |
C |
11: 59,266,369 (GRCm39) |
S30G |
possibly damaging |
Het |
| Rgs6 |
C |
A |
12: 83,106,578 (GRCm39) |
Y151* |
probably null |
Het |
| Ripk4 |
A |
C |
16: 97,545,375 (GRCm39) |
L361R |
probably damaging |
Het |
| Serpinb3d |
C |
T |
1: 107,006,962 (GRCm39) |
D249N |
probably benign |
Het |
| Skint10 |
A |
T |
4: 112,630,224 (GRCm39) |
|
probably null |
Het |
| Smg7 |
A |
T |
1: 152,731,713 (GRCm39) |
N349K |
probably benign |
Het |
| Sohlh2 |
C |
A |
3: 55,115,104 (GRCm39) |
S363Y |
probably damaging |
Het |
| Srsf10 |
A |
G |
4: 135,591,179 (GRCm39) |
T210A |
possibly damaging |
Het |
| Synpo2l |
A |
T |
14: 20,710,748 (GRCm39) |
M624K |
probably damaging |
Het |
| Thsd7a |
T |
A |
6: 12,331,541 (GRCm39) |
|
probably null |
Het |
| Tnc |
A |
T |
4: 63,938,692 (GRCm39) |
V49E |
probably damaging |
Het |
| Tnik |
A |
C |
3: 28,704,308 (GRCm39) |
K989T |
probably damaging |
Het |
| Tnxb |
T |
A |
17: 34,890,892 (GRCm39) |
Y412N |
probably damaging |
Het |
| Trmt44 |
A |
G |
5: 35,726,103 (GRCm39) |
|
probably null |
Het |
| Tsc2 |
A |
T |
17: 24,840,686 (GRCm39) |
V391E |
probably damaging |
Het |
| Ttll5 |
T |
C |
12: 85,980,450 (GRCm39) |
|
probably null |
Het |
| Usp28 |
A |
G |
9: 48,935,360 (GRCm39) |
I104V |
probably benign |
Het |
| Vmn1r64 |
A |
G |
7: 5,887,096 (GRCm39) |
L149S |
probably damaging |
Het |
| Yme1l1 |
T |
A |
2: 23,082,527 (GRCm39) |
M506K |
possibly damaging |
Het |
| Zfp280d |
T |
A |
9: 72,215,247 (GRCm39) |
F98I |
probably damaging |
Het |
| Zfp62 |
C |
A |
11: 49,106,227 (GRCm39) |
T106K |
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 |
|
|
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 |
|
R6029:Dlg1
|
UTSW |
16 |
31,612,388 (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'- ATTCAACACAGCAATTCCCAGTCTCA -3'
(R):5'- cacacacacacccacCCATAGTTT -3'
Sequencing Primer
(F):5'- CTTAGACTGTTTCCATTACAGAGTG -3'
(R):5'- ccaacatctccccattcctc -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation