Incidental Mutation 'R3954:Dlg1'
| ID |
308126 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dlg1
|
| Ensembl Gene |
ENSMUSG00000022770 |
| Gene Name |
discs large MAGUK scaffold protein 1 |
| Synonyms |
B130052P05Rik, SAP97, Dlgh1 |
| MMRRC Submission |
040831-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3954 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
31482261-31692174 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 31676826 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 792
(Y792H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110855
(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: Y752H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023454
Gene: ENSMUSG00000022770
AA Change: Y752H
| 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: Y807H
PolyPhen 2
Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000064280
Gene: ENSMUSG00000022770
AA Change: Y807H
| 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: Y785H
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000097581
Gene: ENSMUSG00000022770
AA Change: Y785H
| 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: Y714H
PolyPhen 2
Score 0.739 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000110850
Gene: ENSMUSG00000022770
AA Change: Y714H
| 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: Y792H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110855
Gene: ENSMUSG00000022770
AA Change: Y792H
| 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: Y785H
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000110859
Gene: ENSMUSG00000022770
AA Change: Y785H
| 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 |
|
| Meta Mutation Damage Score |
0.4706 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
98% (42/43) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
A |
G |
10: 29,100,805 (GRCm39) |
K393E |
possibly damaging |
Het |
| Aagab |
A |
G |
9: 63,526,442 (GRCm39) |
E155G |
probably damaging |
Het |
| Acad11 |
A |
G |
9: 103,963,351 (GRCm39) |
|
probably benign |
Het |
| Adam2 |
G |
A |
14: 66,295,059 (GRCm39) |
S262L |
probably damaging |
Het |
| Ankle2 |
A |
G |
5: 110,399,541 (GRCm39) |
T633A |
probably benign |
Het |
| Arhgef19 |
A |
G |
4: 140,983,645 (GRCm39) |
Y726C |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| B3galnt2 |
A |
G |
13: 14,141,039 (GRCm39) |
Q87R |
probably benign |
Het |
| Carmil1 |
A |
G |
13: 24,197,390 (GRCm39) |
S1349P |
probably benign |
Het |
| Cfap52 |
C |
A |
11: 67,821,691 (GRCm39) |
V446L |
probably benign |
Het |
| Cgnl1 |
T |
C |
9: 71,631,945 (GRCm39) |
N469D |
probably benign |
Het |
| Clspn |
ACGGCGGCGGC |
A |
4: 126,460,230 (GRCm39) |
|
probably null |
Het |
| Cpsf3 |
A |
G |
12: 21,363,806 (GRCm39) |
D632G |
probably benign |
Het |
| Cyp3a57 |
A |
T |
5: 145,286,135 (GRCm39) |
|
probably null |
Het |
| Dennd5a |
A |
G |
7: 109,504,906 (GRCm39) |
M868T |
probably benign |
Het |
| Dusp13b |
T |
A |
14: 21,790,175 (GRCm39) |
D57V |
probably damaging |
Het |
| Galnt6 |
A |
G |
15: 100,595,049 (GRCm39) |
V484A |
possibly damaging |
Het |
| Hbq1a |
T |
C |
11: 32,250,214 (GRCm39) |
|
probably null |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Igkv4-79 |
A |
G |
6: 69,020,229 (GRCm39) |
S29P |
possibly damaging |
Het |
| Lamp5 |
G |
A |
2: 135,902,928 (GRCm39) |
D216N |
probably damaging |
Het |
| Me2 |
A |
G |
18: 73,914,203 (GRCm39) |
F443L |
probably damaging |
Het |
| Ncam2 |
G |
A |
16: 81,386,612 (GRCm39) |
V664M |
probably damaging |
Het |
| Ndst4 |
T |
C |
3: 125,231,554 (GRCm39) |
M41T |
probably benign |
Het |
| Nkx6-3 |
G |
T |
8: 23,643,742 (GRCm39) |
A48S |
possibly damaging |
Het |
| Ntng2 |
A |
G |
2: 29,097,547 (GRCm39) |
C305R |
probably damaging |
Het |
| Nup210l |
A |
T |
3: 90,100,361 (GRCm39) |
R1462S |
possibly damaging |
Het |
| Odad1 |
A |
G |
7: 45,591,100 (GRCm39) |
K192E |
probably damaging |
Het |
| Omd |
A |
T |
13: 49,743,213 (GRCm39) |
I88F |
probably benign |
Het |
| Or51f1 |
A |
G |
7: 102,505,824 (GRCm39) |
C222R |
probably damaging |
Het |
| Pi4k2a |
G |
A |
19: 42,104,338 (GRCm39) |
A367T |
probably damaging |
Het |
| Pramel30 |
A |
C |
4: 144,058,238 (GRCm39) |
M282L |
probably benign |
Het |
| Prph2 |
T |
C |
17: 47,221,644 (GRCm39) |
F8L |
probably benign |
Het |
| Qng1 |
A |
G |
13: 58,532,203 (GRCm39) |
S118P |
probably damaging |
Het |
| Rasgrf2 |
A |
G |
13: 92,130,974 (GRCm39) |
S696P |
probably damaging |
Het |
| Slc26a1 |
T |
C |
5: 108,821,448 (GRCm39) |
D147G |
possibly damaging |
Het |
| Tec |
T |
C |
5: 72,939,520 (GRCm39) |
|
probably null |
Het |
| Tmem131l |
C |
A |
3: 83,817,726 (GRCm39) |
C1257F |
probably damaging |
Het |
| Trim30d |
C |
T |
7: 104,121,728 (GRCm39) |
G339D |
probably damaging |
Het |
| Ttc6 |
T |
C |
12: 57,744,238 (GRCm39) |
V1290A |
probably benign |
Het |
| Vmn1r124 |
A |
G |
7: 20,994,448 (GRCm39) |
V32A |
possibly damaging |
Het |
| Zc3h13 |
T |
A |
14: 75,567,178 (GRCm39) |
S921T |
possibly damaging |
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 |
|
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'- TGTGTCCCTCGTGAGTAACC -3'
(R):5'- CAGACTTGACAACCTGTTCTTAG -3'
Sequencing Primer
(F):5'- GTGAGTAACCCACATTAAAACCTATG -3'
(R):5'- CTTGACAACCTGTTCTTAGATGAAC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation