Incidental Mutation 'R5090:Dlg1'
ID |
387720 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dlg1
|
Ensembl Gene |
ENSMUSG00000022770 |
Gene Name |
discs large MAGUK scaffold protein 1 |
Synonyms |
B130052P05Rik, SAP97, Dlgh1 |
MMRRC Submission |
042679-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5090 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
31482261-31692174 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 31656902 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Tryptophan
at position 599
(G599W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110859
(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: G566W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000023454 Gene: ENSMUSG00000022770 AA Change: G566W
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: G599W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000064280 Gene: ENSMUSG00000022770 AA Change: G599W
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: G599W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000097581 Gene: ENSMUSG00000022770 AA Change: G599W
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: G516W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000110850 Gene: ENSMUSG00000022770 AA Change: G516W
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: G599W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000110855 Gene: ENSMUSG00000022770 AA Change: G599W
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: G599W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000110859 Gene: ENSMUSG00000022770 AA Change: G599W
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 |
silent
Transcript: ENSMUST00000130920
|
Predicted Effect |
unknown
Transcript: ENSMUST00000131136
AA Change: G294W
|
SMART Domains |
Protein: ENSMUSP00000115954 Gene: ENSMUSG00000022770 AA Change: G294W
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 |
silent
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137322
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147382
|
Meta Mutation Damage Score |
0.6610 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.2%
|
Validation Efficiency |
99% (66/67) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca15 |
A |
G |
7: 119,984,422 (GRCm39) |
S1168G |
probably damaging |
Het |
Acsf2 |
A |
T |
11: 94,462,095 (GRCm39) |
|
probably null |
Het |
Ankk1 |
G |
T |
9: 49,333,063 (GRCm39) |
S140R |
probably damaging |
Het |
Ash1l |
G |
T |
3: 88,960,184 (GRCm39) |
K2305N |
probably damaging |
Het |
Asnsd1 |
C |
T |
1: 53,391,563 (GRCm39) |
|
probably benign |
Het |
Atxn7l1 |
T |
C |
12: 33,376,077 (GRCm39) |
S51P |
probably damaging |
Het |
Ccdc88c |
A |
G |
12: 100,920,439 (GRCm39) |
L394P |
probably damaging |
Het |
Cd200r1 |
T |
A |
16: 44,609,924 (GRCm39) |
S48T |
possibly damaging |
Het |
Cemip |
T |
C |
7: 83,591,343 (GRCm39) |
E1243G |
probably damaging |
Het |
Cep192 |
T |
A |
18: 67,993,617 (GRCm39) |
H1977Q |
possibly damaging |
Het |
Cep250 |
T |
C |
2: 155,818,324 (GRCm39) |
L833P |
probably damaging |
Het |
Chd9 |
C |
A |
8: 91,753,462 (GRCm39) |
Y1818* |
probably null |
Het |
Clca3a1 |
C |
A |
3: 144,443,633 (GRCm39) |
V706L |
probably benign |
Het |
Cntln |
T |
C |
4: 84,865,830 (GRCm39) |
V162A |
probably damaging |
Het |
Col5a1 |
G |
A |
2: 27,908,614 (GRCm39) |
W67* |
probably null |
Het |
Cux1 |
T |
A |
5: 136,342,054 (GRCm39) |
N446I |
possibly damaging |
Het |
Dock7 |
C |
T |
4: 98,879,648 (GRCm39) |
V969I |
probably benign |
Het |
Ephb3 |
T |
C |
16: 21,033,237 (GRCm39) |
C74R |
probably damaging |
Het |
Fads6 |
T |
A |
11: 115,187,480 (GRCm39) |
T72S |
probably benign |
Het |
Fra10ac1 |
C |
T |
19: 38,202,873 (GRCm39) |
R110Q |
probably damaging |
Het |
Gdf3 |
T |
A |
6: 122,586,713 (GRCm39) |
L71F |
probably benign |
Het |
Gm6685 |
A |
G |
11: 28,289,253 (GRCm39) |
Y188H |
probably benign |
Het |
Gm6981 |
A |
C |
9: 51,914,142 (GRCm39) |
|
noncoding transcript |
Het |
Gnpda1 |
T |
C |
18: 38,465,146 (GRCm39) |
T157A |
probably damaging |
Het |
Grap2 |
A |
C |
15: 80,522,683 (GRCm39) |
N70H |
possibly damaging |
Het |
Gvin3 |
T |
A |
7: 106,200,109 (GRCm39) |
|
noncoding transcript |
Het |
Hdac5 |
G |
A |
11: 102,088,539 (GRCm39) |
R887C |
probably damaging |
Het |
Hectd3 |
T |
A |
4: 116,857,435 (GRCm39) |
|
probably benign |
Het |
Hmgcr |
T |
C |
13: 96,787,098 (GRCm39) |
K162E |
probably benign |
Het |
Inpp5e |
A |
T |
2: 26,289,383 (GRCm39) |
|
probably null |
Het |
Kifap3 |
A |
G |
1: 163,683,645 (GRCm39) |
D442G |
possibly damaging |
Het |
Lama3 |
A |
G |
18: 12,675,459 (GRCm39) |
T1015A |
possibly damaging |
Het |
Lcp2 |
T |
A |
11: 34,039,725 (GRCm39) |
Y508* |
probably null |
Het |
Map1b |
G |
T |
13: 99,566,534 (GRCm39) |
Y2062* |
probably null |
Het |
Mipep |
A |
G |
14: 61,039,748 (GRCm39) |
D259G |
possibly damaging |
Het |
Mmp2 |
T |
C |
8: 93,579,202 (GRCm39) |
F97S |
probably damaging |
Het |
Mrpl18 |
A |
C |
17: 13,132,697 (GRCm39) |
M144R |
probably damaging |
Het |
Nek9 |
A |
G |
12: 85,376,616 (GRCm39) |
|
probably null |
Het |
Nmral1 |
A |
T |
16: 4,532,395 (GRCm39) |
Y139N |
probably damaging |
Het |
Notch4 |
T |
C |
17: 34,799,894 (GRCm39) |
C952R |
probably damaging |
Het |
Nsf |
T |
C |
11: 103,801,404 (GRCm39) |
N204D |
probably benign |
Het |
P2rx4 |
A |
T |
5: 122,863,118 (GRCm39) |
D197V |
probably damaging |
Het |
Pak5 |
A |
T |
2: 135,929,338 (GRCm39) |
I615N |
probably damaging |
Het |
Parp10 |
T |
C |
15: 76,125,925 (GRCm39) |
D421G |
probably damaging |
Het |
Pcdha6 |
A |
T |
18: 37,101,770 (GRCm39) |
D321V |
probably benign |
Het |
Pkhd1 |
T |
A |
1: 20,270,981 (GRCm39) |
I3191F |
probably damaging |
Het |
Psmd4 |
T |
C |
3: 94,942,559 (GRCm39) |
N7S |
possibly damaging |
Het |
Ptprq |
A |
G |
10: 107,361,950 (GRCm39) |
V2084A |
probably damaging |
Het |
Rab3gap1 |
A |
G |
1: 127,843,415 (GRCm39) |
E263G |
probably benign |
Het |
Rbm5 |
A |
G |
9: 107,637,511 (GRCm39) |
|
probably benign |
Het |
Sacs |
T |
C |
14: 61,442,702 (GRCm39) |
F1583L |
probably damaging |
Het |
Sel1l3 |
G |
T |
5: 53,357,388 (GRCm39) |
H201Q |
probably benign |
Het |
Shoc1 |
T |
C |
4: 59,111,108 (GRCm39) |
T55A |
unknown |
Het |
Tdpoz3 |
T |
A |
3: 93,733,870 (GRCm39) |
W182R |
possibly damaging |
Het |
Trim55 |
A |
G |
3: 19,725,771 (GRCm39) |
N313S |
probably benign |
Het |
Usp17lb |
A |
T |
7: 104,490,290 (GRCm39) |
D212E |
probably benign |
Het |
Xirp2 |
A |
G |
2: 67,355,814 (GRCm39) |
E3525G |
possibly damaging |
Het |
Zfp236 |
T |
C |
18: 82,637,006 (GRCm39) |
T1379A |
probably benign |
Het |
Zfp553 |
A |
T |
7: 126,834,659 (GRCm39) |
E71D |
probably damaging |
Het |
Znrf1 |
T |
G |
8: 112,265,035 (GRCm39) |
F21V |
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 |
|
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'- GCATGCAGTCTATCCTAAAACACTG -3'
(R):5'- TGTACACAGCACAGTAAAAGAAATGTC -3'
Sequencing Primer
(F):5'- CTTAGACTGTTTCCATTACAGAGTG -3'
(R):5'- GAATCACTCCGACTTCGT -3'
|
Posted On |
2016-06-06 |