Incidental Mutation 'IGL03025:Dlg1'
ID |
408136 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Dlg1
|
Ensembl Gene |
ENSMUSG00000022770 |
Gene Name |
discs large MAGUK scaffold protein 1 |
Synonyms |
B130052P05Rik, SAP97, Dlgh1 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL03025
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
31482261-31692174 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 31624545 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 412
(I412V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138782
(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: I427V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000023454 Gene: ENSMUSG00000022770 AA Change: I427V
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 benign
Transcript: ENSMUST00000064477
AA Change: I460V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000064280 Gene: ENSMUSG00000022770 AA Change: I460V
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: I460V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000097581 Gene: ENSMUSG00000022770 AA Change: I460V
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: I377V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000110850 Gene: ENSMUSG00000022770 AA Change: I377V
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: I460V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000110855 Gene: ENSMUSG00000022770 AA Change: I460V
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: I460V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000110859 Gene: ENSMUSG00000022770 AA Change: I460V
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 |
unknown
Transcript: ENSMUST00000131136
AA Change: I155V
|
SMART Domains |
Protein: ENSMUSP00000115954 Gene: ENSMUSG00000022770 AA Change: I155V
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 benign
Transcript: ENSMUST00000132176
AA Change: I412V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000138782 Gene: ENSMUSG00000022770 AA Change: I412V
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 |
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921509C19Rik |
T |
C |
2: 151,315,405 (GRCm39) |
N91S |
possibly damaging |
Het |
Adora1 |
T |
C |
1: 134,130,807 (GRCm39) |
Y288C |
probably damaging |
Het |
Avil |
A |
T |
10: 126,849,446 (GRCm39) |
T581S |
probably benign |
Het |
Cacna1h |
C |
T |
17: 25,651,868 (GRCm39) |
W92* |
probably null |
Het |
Calr3 |
A |
C |
8: 73,188,735 (GRCm39) |
|
probably benign |
Het |
Cdan1 |
T |
C |
2: 120,561,222 (GRCm39) |
E181G |
probably damaging |
Het |
Clca4a |
T |
C |
3: 144,663,079 (GRCm39) |
N590S |
probably benign |
Het |
Cnga1 |
T |
A |
5: 72,762,756 (GRCm39) |
I253F |
probably benign |
Het |
Cngb3 |
T |
G |
4: 19,283,498 (GRCm39) |
|
probably benign |
Het |
Cstf3 |
T |
A |
2: 104,439,276 (GRCm39) |
Y30N |
possibly damaging |
Het |
Cyp2a12 |
T |
A |
7: 26,730,631 (GRCm39) |
S199T |
probably benign |
Het |
Fasn |
C |
T |
11: 120,708,974 (GRCm39) |
V570M |
probably benign |
Het |
Fhit |
A |
G |
14: 10,421,534 (GRCm38) |
S85P |
probably damaging |
Het |
Frmd5 |
T |
A |
2: 121,383,825 (GRCm39) |
M369L |
probably benign |
Het |
Ftdc2 |
A |
C |
16: 58,458,076 (GRCm39) |
I75S |
probably damaging |
Het |
Gatb |
T |
C |
3: 85,483,181 (GRCm39) |
W63R |
probably damaging |
Het |
Gga1 |
G |
T |
15: 78,772,382 (GRCm39) |
L227F |
probably damaging |
Het |
Itgb1 |
A |
G |
8: 129,449,065 (GRCm39) |
N557S |
possibly damaging |
Het |
Ltf |
T |
C |
9: 110,854,169 (GRCm39) |
V328A |
possibly damaging |
Het |
Nefh |
T |
C |
11: 4,895,289 (GRCm39) |
E300G |
probably damaging |
Het |
Nrip1 |
A |
G |
16: 76,091,353 (GRCm39) |
V68A |
probably benign |
Het |
Or1m1 |
T |
C |
9: 18,666,665 (GRCm39) |
N89D |
probably benign |
Het |
Pcdhb13 |
T |
G |
18: 37,575,817 (GRCm39) |
V65G |
probably damaging |
Het |
Pcdhb4 |
A |
T |
18: 37,443,030 (GRCm39) |
Y780F |
possibly damaging |
Het |
Plcd3 |
C |
T |
11: 102,965,724 (GRCm39) |
E503K |
probably benign |
Het |
Rbm6 |
T |
A |
9: 107,651,918 (GRCm39) |
D903V |
possibly damaging |
Het |
Rnf133 |
A |
G |
6: 23,649,134 (GRCm39) |
M265T |
probably benign |
Het |
Sbf1 |
T |
C |
15: 89,173,848 (GRCm39) |
T1775A |
probably damaging |
Het |
Serpina1f |
T |
A |
12: 103,659,805 (GRCm39) |
D159V |
probably damaging |
Het |
Skap1 |
C |
A |
11: 96,593,508 (GRCm39) |
S118R |
probably damaging |
Het |
Slc17a9 |
C |
A |
2: 180,381,609 (GRCm39) |
|
probably null |
Het |
Slc30a5 |
A |
G |
13: 100,950,395 (GRCm39) |
S231P |
probably damaging |
Het |
Stac2 |
A |
G |
11: 97,934,548 (GRCm39) |
F52S |
probably damaging |
Het |
Them7 |
T |
C |
2: 105,128,150 (GRCm39) |
S44P |
probably benign |
Het |
Tnmd |
A |
G |
X: 132,766,162 (GRCm39) |
|
probably benign |
Het |
Trdmt1 |
A |
T |
2: 13,528,246 (GRCm39) |
I105N |
probably damaging |
Het |
Trpc1 |
C |
T |
9: 95,592,313 (GRCm39) |
G554E |
probably damaging |
Het |
Vmn1r37 |
A |
G |
6: 66,708,740 (GRCm39) |
Y85C |
probably benign |
Het |
Zim1 |
T |
C |
7: 6,685,058 (GRCm39) |
T131A |
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 |
|
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 |
|
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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Posted On |
2016-08-02 |