Incidental Mutation 'R7963:Dlg1'
| ID |
650241 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dlg1
|
| Ensembl Gene |
ENSMUSG00000022770 |
| Gene Name |
discs large MAGUK scaffold protein 1 |
| Synonyms |
B130052P05Rik, SAP97, Dlgh1 |
| MMRRC Submission |
046006-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7963 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
31482261-31692174 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 31609119 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 271
(R271Q)
|
| 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 null
Transcript: ENSMUST00000023454
AA Change: R238Q
PolyPhen 2
Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000023454
Gene: ENSMUSG00000022770
AA Change: R238Q
| 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 null
Transcript: ENSMUST00000064477
AA Change: R271Q
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000064280
Gene: ENSMUSG00000022770
AA Change: R271Q
| 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 null
Transcript: ENSMUST00000100001
AA Change: R271Q
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000097581
Gene: ENSMUSG00000022770
AA Change: R271Q
| 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 null
Transcript: ENSMUST00000115196
AA Change: R188Q
PolyPhen 2
Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000110850
Gene: ENSMUSG00000022770
AA Change: R188Q
| 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 null
Transcript: ENSMUST00000115201
AA Change: R271Q
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000110855
Gene: ENSMUSG00000022770
AA Change: R271Q
| 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 null
Transcript: ENSMUST00000115205
AA Change: R271Q
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000110859
Gene: ENSMUSG00000022770
AA Change: R271Q
| 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: ENSMUST00000131136
|
| SMART Domains |
Protein: ENSMUSP00000115954
Gene: ENSMUSG00000022770
| 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: R238Q
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000138782
Gene: ENSMUSG00000022770
AA Change: R238Q
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
A |
G |
13: 77,340,673 (GRCm39) |
K101E |
probably benign |
Het |
| 4930407I10Rik |
A |
G |
15: 81,948,137 (GRCm39) |
K678R |
possibly damaging |
Het |
| Akr1b10 |
G |
C |
6: 34,364,643 (GRCm39) |
A35P |
possibly damaging |
Het |
| Arhgef10l |
T |
C |
4: 140,306,736 (GRCm39) |
E106G |
probably damaging |
Het |
| Atp9a |
T |
C |
2: 168,516,732 (GRCm39) |
Y445C |
probably damaging |
Het |
| Btbd18 |
T |
C |
2: 84,498,239 (GRCm39) |
S626P |
probably benign |
Het |
| Cdh23 |
A |
T |
10: 60,171,967 (GRCm39) |
N1738K |
probably damaging |
Het |
| Cdv3 |
T |
C |
9: 103,241,210 (GRCm39) |
D119G |
probably damaging |
Het |
| Cep295 |
A |
G |
9: 15,244,737 (GRCm39) |
F1240L |
possibly damaging |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
| Ctsr |
C |
A |
13: 61,310,276 (GRCm39) |
V127L |
probably damaging |
Het |
| Dnaaf11 |
A |
T |
15: 66,252,366 (GRCm39) |
D433E |
probably damaging |
Het |
| Dnajc1 |
G |
A |
2: 18,227,535 (GRCm39) |
T377I |
possibly damaging |
Het |
| F2rl3 |
T |
C |
8: 73,489,333 (GRCm39) |
Y187H |
probably damaging |
Het |
| Fgf1 |
A |
T |
18: 38,980,167 (GRCm39) |
V69E |
probably damaging |
Het |
| Garem1 |
T |
C |
18: 21,281,844 (GRCm39) |
K171E |
probably damaging |
Het |
| H3c13 |
C |
A |
3: 96,176,309 (GRCm39) |
Y100* |
probably null |
Het |
| Il2ra |
G |
A |
2: 11,679,235 (GRCm39) |
R65H |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 40,817,947 (GRCm39) |
I2428V |
|
Het |
| Lrp3 |
G |
A |
7: 34,902,404 (GRCm39) |
Q579* |
probably null |
Het |
| Ncoa6 |
G |
A |
2: 155,247,916 (GRCm39) |
T1796I |
probably benign |
Het |
| Ncor1 |
T |
C |
11: 62,225,359 (GRCm39) |
I747V |
probably benign |
Het |
| Nfkb2 |
C |
T |
19: 46,298,358 (GRCm39) |
T554M |
possibly damaging |
Het |
| Nrde2 |
T |
C |
12: 100,116,127 (GRCm39) |
D119G |
probably damaging |
Het |
| Odf2 |
C |
A |
2: 29,816,112 (GRCm39) |
Q720K |
probably benign |
Het |
| Or4c52 |
T |
C |
2: 89,846,003 (GRCm39) |
V243A |
possibly damaging |
Het |
| Or4k41 |
T |
A |
2: 111,279,971 (GRCm39) |
L162Q |
possibly damaging |
Het |
| Or5w1b |
C |
T |
2: 87,475,769 (GRCm39) |
E233K |
probably benign |
Het |
| Or8k33 |
T |
C |
2: 86,383,639 (GRCm39) |
I276M |
possibly damaging |
Het |
| Pcx |
T |
C |
19: 4,652,034 (GRCm39) |
V94A |
probably damaging |
Het |
| Pdxdc1 |
A |
T |
16: 13,694,030 (GRCm39) |
Y131N |
possibly damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Plod2 |
A |
G |
9: 92,487,499 (GRCm39) |
H606R |
probably benign |
Het |
| Ptp4a2 |
A |
G |
4: 129,733,237 (GRCm39) |
|
probably benign |
Het |
| Rsl1 |
A |
G |
13: 67,330,173 (GRCm39) |
E207G |
probably damaging |
Het |
| Slc28a3 |
A |
G |
13: 58,724,580 (GRCm39) |
Y225H |
probably damaging |
Het |
| Spag17 |
T |
A |
3: 99,929,954 (GRCm39) |
M551K |
probably benign |
Het |
| Ssh2 |
C |
A |
11: 77,312,182 (GRCm39) |
A231D |
possibly damaging |
Het |
| Stab2 |
A |
G |
10: 86,683,887 (GRCm39) |
|
probably null |
Het |
| Stac2 |
T |
C |
11: 97,932,403 (GRCm39) |
T197A |
probably benign |
Het |
| Syne2 |
T |
A |
12: 76,067,174 (GRCm39) |
L4291Q |
probably benign |
Het |
| Vmn2r38 |
A |
T |
7: 9,095,854 (GRCm39) |
D179E |
probably benign |
Het |
| Zfp597 |
T |
C |
16: 3,689,022 (GRCm39) |
D51G |
probably benign |
Het |
| Zfp64 |
A |
T |
2: 168,793,538 (GRCm39) |
F69L |
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 |
|
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 |
|
|
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'- GACGTCTTTCCTTACGAAGAGC -3'
(R):5'- CTAAAGGGCCACATAAAGTACTAAG -3'
Sequencing Primer
(F):5'- TCCTTACGAAGAGCATGTATATTTG -3'
(R):5'- GCTTTGCGACTTTATTTGTAAACACC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation