Incidental Mutation 'R5078:Dlg1'
ID |
386984 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dlg1
|
Ensembl Gene |
ENSMUSG00000022770 |
Gene Name |
discs large MAGUK scaffold protein 1 |
Synonyms |
B130052P05Rik, SAP97, Dlgh1 |
MMRRC Submission |
042667-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5078 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
31482261-31692174 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 31675287 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 704
(Y704*)
|
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 null
Transcript: ENSMUST00000023454
AA Change: Y671*
|
SMART Domains |
Protein: ENSMUSP00000023454 Gene: ENSMUSG00000022770 AA Change: Y671*
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: Y726*
|
SMART Domains |
Protein: ENSMUSP00000064280 Gene: ENSMUSG00000022770 AA Change: Y726*
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: Y704*
|
SMART Domains |
Protein: ENSMUSP00000097581 Gene: ENSMUSG00000022770 AA Change: Y704*
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: Y633*
|
SMART Domains |
Protein: ENSMUSP00000110850 Gene: ENSMUSG00000022770 AA Change: Y633*
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: Y711*
|
SMART Domains |
Protein: ENSMUSP00000110855 Gene: ENSMUSG00000022770 AA Change: Y711*
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: Y704*
|
SMART Domains |
Protein: ENSMUSP00000110859 Gene: ENSMUSG00000022770 AA Change: Y704*
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 |
noncoding transcript
Transcript: ENSMUST00000138213
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155847
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147382
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130920
|
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 |
0.9755 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
100% (53/53) |
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 |
Adcy9 |
T |
C |
16: 4,141,771 (GRCm39) |
S345G |
probably benign |
Het |
Adgrf2 |
A |
T |
17: 43,021,877 (GRCm39) |
F316I |
probably damaging |
Het |
Ank2 |
A |
G |
3: 126,736,002 (GRCm39) |
|
probably benign |
Het |
Auts2 |
T |
C |
5: 132,287,786 (GRCm39) |
K66E |
possibly damaging |
Het |
Bicra |
T |
C |
7: 15,709,382 (GRCm39) |
D1144G |
probably damaging |
Het |
Cabin1 |
A |
G |
10: 75,557,312 (GRCm39) |
S1109P |
probably damaging |
Het |
Camkv |
T |
C |
9: 107,822,572 (GRCm39) |
V29A |
probably damaging |
Het |
Ccdc178 |
A |
T |
18: 22,200,685 (GRCm39) |
|
probably null |
Het |
Ccser1 |
G |
A |
6: 61,288,350 (GRCm39) |
R171H |
probably damaging |
Het |
Cdk19 |
A |
G |
10: 40,312,150 (GRCm39) |
Y133C |
probably damaging |
Het |
Cerkl |
T |
A |
2: 79,223,352 (GRCm39) |
D123V |
probably benign |
Het |
Chd1 |
T |
C |
17: 15,946,616 (GRCm39) |
S121P |
possibly damaging |
Het |
Col4a2 |
T |
C |
8: 11,493,936 (GRCm39) |
V1459A |
probably benign |
Het |
Dsg2 |
T |
C |
18: 20,729,140 (GRCm39) |
|
probably null |
Het |
Egln3 |
T |
C |
12: 54,228,453 (GRCm39) |
R218G |
probably damaging |
Het |
Gm11568 |
T |
C |
11: 99,749,181 (GRCm39) |
C129R |
unknown |
Het |
Gm13991 |
T |
C |
2: 116,358,355 (GRCm39) |
|
noncoding transcript |
Het |
Gmnc |
C |
A |
16: 26,784,332 (GRCm39) |
V58L |
probably benign |
Het |
Gpx5 |
A |
G |
13: 21,472,881 (GRCm39) |
F151S |
probably damaging |
Het |
Helz |
G |
A |
11: 107,546,922 (GRCm39) |
G1079R |
probably damaging |
Het |
Ice1 |
T |
C |
13: 70,752,969 (GRCm39) |
E1039G |
probably benign |
Het |
Kif18a |
T |
C |
2: 109,125,487 (GRCm39) |
|
probably benign |
Het |
Klhl29 |
T |
C |
12: 5,143,530 (GRCm39) |
T500A |
possibly damaging |
Het |
Lrfn5 |
A |
C |
12: 61,890,660 (GRCm39) |
K650Q |
possibly damaging |
Het |
Lrp2 |
T |
C |
2: 69,331,874 (GRCm39) |
D1627G |
possibly damaging |
Het |
Nxn |
T |
C |
11: 76,152,433 (GRCm39) |
K354E |
probably damaging |
Het |
Or5d20-ps1 |
T |
A |
2: 87,931,879 (GRCm39) |
I151L |
probably benign |
Het |
Pcnx2 |
T |
C |
8: 126,478,895 (GRCm39) |
T2118A |
probably benign |
Het |
Phldb2 |
A |
G |
16: 45,598,105 (GRCm39) |
F861L |
possibly damaging |
Het |
Piezo2 |
A |
G |
18: 63,157,607 (GRCm39) |
Y2368H |
probably damaging |
Het |
Pnp |
T |
A |
14: 51,188,963 (GRCm39) |
L252* |
probably null |
Het |
Prom2 |
T |
C |
2: 127,373,757 (GRCm39) |
Q641R |
probably benign |
Het |
Prpf31 |
T |
C |
7: 3,637,702 (GRCm39) |
S180P |
possibly damaging |
Het |
Prss27 |
C |
A |
17: 24,263,414 (GRCm39) |
Y142* |
probably null |
Het |
Ripk1 |
T |
G |
13: 34,201,082 (GRCm39) |
M265R |
probably damaging |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Ropn1 |
T |
A |
16: 34,487,161 (GRCm39) |
D32E |
probably damaging |
Het |
Rps23 |
T |
C |
13: 91,071,822 (GRCm39) |
F41L |
probably benign |
Het |
Sec24d |
A |
G |
3: 123,084,201 (GRCm39) |
I127V |
probably benign |
Het |
Selenot |
C |
T |
3: 58,492,692 (GRCm39) |
R60W |
probably damaging |
Het |
Tll1 |
T |
C |
8: 64,546,921 (GRCm39) |
K342E |
probably damaging |
Het |
Tlx1 |
A |
T |
19: 45,144,460 (GRCm39) |
N61Y |
probably damaging |
Het |
Vmn2r117 |
T |
A |
17: 23,679,122 (GRCm39) |
I701F |
probably damaging |
Het |
Zmynd12 |
A |
G |
4: 119,302,047 (GRCm39) |
K229E |
probably 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 |
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 |
|
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 |
|
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Predicted Primers |
PCR Primer
(F):5'- GCCTTGGATATTCATGCCATAAG -3'
(R):5'- CAGCCAACATAAAATGACTTGATTC -3'
Sequencing Primer
(F):5'- TGCCATAAGTACCTTTTTGTACATC -3'
(R):5'- AGGGCATTGGATCCCATTAC -3'
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Posted On |
2016-06-06 |