Incidental Mutation 'R6322:Dlg1'
ID |
510175 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dlg1
|
Ensembl Gene |
ENSMUSG00000022770 |
Gene Name |
discs large MAGUK scaffold protein 1 |
Synonyms |
B130052P05Rik, SAP97, Dlgh1 |
MMRRC Submission |
044476-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6322 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
31482261-31692174 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 31675297 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 730
(N730D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000064280
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023454]
[ENSMUST00000064477]
[ENSMUST00000100001]
[ENSMUST00000115196]
[ENSMUST00000115201]
[ENSMUST00000115205]
[ENSMUST00000132176]
|
AlphaFold |
Q811D0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023454
AA Change: N675D
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000023454 Gene: ENSMUSG00000022770 AA Change: N675D
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: N730D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000064280 Gene: ENSMUSG00000022770 AA Change: N730D
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 benign
Transcript: ENSMUST00000100001
AA Change: N708D
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000097581 Gene: ENSMUSG00000022770 AA Change: N708D
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: ENSMUST00000115196
AA Change: N637D
PolyPhen 2
Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000110850 Gene: ENSMUSG00000022770 AA Change: N637D
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 benign
Transcript: ENSMUST00000115201
AA Change: N715D
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000110855 Gene: ENSMUSG00000022770 AA Change: N715D
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 benign
Transcript: ENSMUST00000115205
AA Change: N708D
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000110859 Gene: ENSMUSG00000022770 AA Change: N708D
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: ENSMUST00000155847
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138213
|
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147382
|
Meta Mutation Damage Score |
0.0601 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.7%
|
Validation Efficiency |
98% (51/52) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932414N04Rik |
T |
C |
2: 68,559,843 (GRCm39) |
V211A |
probably benign |
Het |
Adora3 |
G |
A |
3: 105,814,760 (GRCm39) |
R170H |
probably benign |
Het |
Aldh1l1 |
T |
C |
6: 90,539,680 (GRCm39) |
I203T |
probably benign |
Het |
Alox12b |
T |
C |
11: 69,049,199 (GRCm39) |
Y83H |
possibly damaging |
Het |
Atcay |
A |
T |
10: 81,049,125 (GRCm39) |
I159K |
probably damaging |
Het |
Blvra |
A |
G |
2: 126,922,459 (GRCm39) |
|
probably benign |
Het |
Catspere2 |
T |
A |
1: 177,845,296 (GRCm39) |
Y105* |
probably null |
Het |
Celsr2 |
A |
G |
3: 108,319,890 (GRCm39) |
F974S |
probably damaging |
Het |
Cfap44 |
C |
T |
16: 44,254,029 (GRCm39) |
R918* |
probably null |
Het |
Cpa6 |
T |
A |
1: 10,547,346 (GRCm39) |
R181S |
possibly damaging |
Het |
Eif2ak1 |
A |
G |
5: 143,835,913 (GRCm39) |
T535A |
probably benign |
Het |
Fam13c |
A |
T |
10: 70,334,721 (GRCm39) |
D149V |
probably damaging |
Het |
Fam171a1 |
G |
A |
2: 3,227,392 (GRCm39) |
V717I |
probably benign |
Het |
Fchsd1 |
A |
G |
18: 38,098,753 (GRCm39) |
V290A |
probably benign |
Het |
Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
Gm15446 |
A |
T |
5: 110,091,383 (GRCm39) |
H545L |
probably damaging |
Het |
Heatr9 |
T |
G |
11: 83,407,538 (GRCm39) |
K215T |
possibly damaging |
Het |
Hfe |
T |
A |
13: 23,889,879 (GRCm39) |
H210L |
probably damaging |
Het |
Lama2 |
T |
C |
10: 27,066,543 (GRCm39) |
T1113A |
probably damaging |
Het |
Lipe |
A |
T |
7: 25,079,961 (GRCm39) |
V686E |
probably damaging |
Het |
Map3k20 |
T |
G |
2: 72,263,814 (GRCm39) |
L488V |
possibly damaging |
Het |
Moxd1 |
C |
T |
10: 24,160,709 (GRCm39) |
T454I |
probably damaging |
Het |
Mrpl58 |
C |
T |
11: 115,301,492 (GRCm39) |
R189* |
probably null |
Het |
Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
Nkx1-1 |
T |
C |
5: 33,588,389 (GRCm39) |
N300D |
probably damaging |
Het |
Nrm |
A |
T |
17: 36,175,605 (GRCm39) |
Q237L |
possibly damaging |
Het |
Numa1 |
T |
C |
7: 101,650,127 (GRCm39) |
L1286P |
probably damaging |
Het |
Or4f4-ps1 |
T |
C |
2: 111,329,729 (GRCm39) |
F44S |
possibly damaging |
Het |
Pappa |
C |
A |
4: 65,232,896 (GRCm39) |
A1345D |
probably damaging |
Het |
Pds5a |
T |
C |
5: 65,854,177 (GRCm39) |
I22V |
probably benign |
Het |
Phf21b |
C |
A |
15: 84,671,580 (GRCm39) |
R438L |
possibly damaging |
Het |
Pik3r5 |
T |
C |
11: 68,383,567 (GRCm39) |
L462P |
probably benign |
Het |
Plagl2 |
T |
C |
2: 153,073,806 (GRCm39) |
E365G |
probably benign |
Het |
Plxna2 |
A |
G |
1: 194,436,675 (GRCm39) |
Y677C |
possibly damaging |
Het |
Pramel13 |
A |
G |
4: 144,119,475 (GRCm39) |
M364T |
probably benign |
Het |
Prkcd |
C |
A |
14: 30,321,620 (GRCm39) |
G410W |
probably damaging |
Het |
Rgl1 |
T |
C |
1: 152,428,186 (GRCm39) |
I348V |
probably damaging |
Het |
Rnmt |
C |
T |
18: 68,452,285 (GRCm39) |
P386S |
probably damaging |
Het |
Rtn3 |
G |
A |
19: 7,435,503 (GRCm39) |
P163L |
possibly damaging |
Het |
Sfxn1 |
T |
C |
13: 54,258,869 (GRCm39) |
C275R |
possibly damaging |
Het |
Sh2b2 |
A |
G |
5: 136,253,042 (GRCm39) |
S377P |
probably damaging |
Het |
Sh3bp1 |
C |
T |
15: 78,795,715 (GRCm39) |
P615S |
probably damaging |
Het |
Simc1 |
T |
C |
13: 54,698,382 (GRCm39) |
L1334S |
probably damaging |
Het |
Slc9a2 |
C |
A |
1: 40,781,813 (GRCm39) |
Y347* |
probably null |
Het |
Snapc5 |
T |
A |
9: 64,089,455 (GRCm39) |
I71K |
probably damaging |
Het |
Tmem161a |
T |
C |
8: 70,634,764 (GRCm39) |
F447S |
probably damaging |
Het |
Tns3 |
A |
G |
11: 8,442,147 (GRCm39) |
C739R |
probably benign |
Het |
Trappc11 |
A |
T |
8: 47,983,808 (GRCm39) |
V28D |
possibly damaging |
Het |
Ubr3 |
C |
T |
2: 69,786,429 (GRCm39) |
Q848* |
probably null |
Het |
Zbtb17 |
G |
A |
4: 141,190,694 (GRCm39) |
G171S |
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 |
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 |
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'- TGCCTTGGATATTCATGCCATAAGTAC -3'
(R):5'- CAGCCAACATAAAATGACTTGATTC -3'
Sequencing Primer
(F):5'- TGCCATAAGTACCTTTTTGTACATC -3'
(R):5'- GCGAGCACTCTTATTCACAGAG -3'
|
Posted On |
2018-04-02 |