Incidental Mutation 'R1107:Dlg1'
| ID |
98531 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dlg1
|
| Ensembl Gene |
ENSMUSG00000022770 |
| Gene Name |
discs large MAGUK scaffold protein 1 |
| Synonyms |
B130052P05Rik, SAP97, Dlgh1 |
| MMRRC Submission |
039180-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1107 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
31482261-31692174 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 31665734 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 697
(E697G)
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000023454
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
|
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: E697G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000064280
Gene: ENSMUSG00000022770
AA Change: E697G
| 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
|
| SMART Domains |
Protein: ENSMUSP00000097581
Gene: ENSMUSG00000022770
| 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
|
| SMART Domains |
Protein: ENSMUSP00000110850
Gene: ENSMUSG00000022770
| 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
|
| SMART Domains |
Protein: ENSMUSP00000110855
Gene: ENSMUSG00000022770
| 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
|
| SMART Domains |
Protein: ENSMUSP00000110859
Gene: ENSMUSG00000022770
| 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: ENSMUST00000147382
|
| 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 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 92.0%
|
| 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: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck2 |
T |
C |
6: 39,562,719 (GRCm39) |
V530A |
possibly damaging |
Het |
| Apba2 |
G |
A |
7: 64,395,467 (GRCm39) |
V636I |
possibly damaging |
Het |
| Cacna1b |
G |
A |
2: 24,587,615 (GRCm39) |
A625V |
probably damaging |
Het |
| Ccdc134 |
C |
A |
15: 82,018,892 (GRCm39) |
R141S |
possibly damaging |
Het |
| Ccdc134 |
T |
A |
15: 82,018,895 (GRCm39) |
W142R |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Fezf2 |
A |
T |
14: 12,342,624 (GRCm38) |
C414S |
probably damaging |
Het |
| Kif26b |
A |
C |
1: 178,745,238 (GRCm39) |
N1778T |
probably benign |
Het |
| Lrp1 |
T |
C |
10: 127,393,304 (GRCm39) |
Y2683C |
probably damaging |
Het |
| Mroh7 |
T |
C |
4: 106,564,791 (GRCm39) |
|
probably null |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Pclo |
T |
A |
5: 14,727,883 (GRCm39) |
|
probably benign |
Het |
| Rnf220 |
C |
A |
4: 117,142,587 (GRCm39) |
G114V |
probably damaging |
Het |
| Tasor |
C |
T |
14: 27,201,680 (GRCm39) |
Q49* |
probably null |
Het |
| Zik1 |
G |
A |
7: 10,224,312 (GRCm39) |
R262C |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTCCCAGGAGTCAGCTTCCATA -3'
(R):5'- CAGTGTACAAAGCACGCCTGTAGAT -3'
Sequencing Primer
(F):5'- GTCAGCTTCCATAGCTGCTAGG -3'
(R):5'- CTAGTATCAGAAACTGGCAATGC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation