Incidental Mutation 'R7271:Dlc1'
| ID |
565295 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dlc1
|
| Ensembl Gene |
ENSMUSG00000031523 |
| Gene Name |
deleted in liver cancer 1 |
| Synonyms |
p122-RhoGAP, Arhgap7, A730069N07Rik, STARD12 |
| MMRRC Submission |
045356-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7271 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
37034905-37420297 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37049954 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 587
(Q587R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033923
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033923]
[ENSMUST00000098826]
[ENSMUST00000163663]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033923
AA Change: Q587R
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000033923
Gene: ENSMUSG00000031523
AA Change: Q587R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SAM_2
|
15 |
76 |
2.2e-7 |
PFAM |
|
low complexity region
|
154 |
174 |
N/A |
INTRINSIC |
|
low complexity region
|
238 |
250 |
N/A |
INTRINSIC |
|
low complexity region
|
298 |
325 |
N/A |
INTRINSIC |
|
low complexity region
|
427 |
441 |
N/A |
INTRINSIC |
|
RhoGAP
|
653 |
845 |
8.82e-59 |
SMART |
|
START
|
887 |
1088 |
3.93e-59 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098826
AA Change: Q621R
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000096425
Gene: ENSMUSG00000031523
AA Change: Q621R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SAM_2
|
49 |
110 |
5.9e-8 |
PFAM |
|
low complexity region
|
188 |
208 |
N/A |
INTRINSIC |
|
low complexity region
|
272 |
284 |
N/A |
INTRINSIC |
|
low complexity region
|
332 |
359 |
N/A |
INTRINSIC |
|
low complexity region
|
461 |
475 |
N/A |
INTRINSIC |
|
RhoGAP
|
687 |
879 |
8.82e-59 |
SMART |
|
START
|
921 |
1122 |
3.93e-59 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163663
AA Change: Q1038R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000132812
Gene: ENSMUSG00000031523
AA Change: Q1038R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
353 |
369 |
N/A |
INTRINSIC |
|
low complexity region
|
388 |
403 |
N/A |
INTRINSIC |
|
Pfam:SAM_2
|
466 |
527 |
1.2e-7 |
PFAM |
|
low complexity region
|
605 |
625 |
N/A |
INTRINSIC |
|
low complexity region
|
689 |
701 |
N/A |
INTRINSIC |
|
low complexity region
|
749 |
776 |
N/A |
INTRINSIC |
|
low complexity region
|
878 |
892 |
N/A |
INTRINSIC |
|
RhoGAP
|
1104 |
1296 |
8.82e-59 |
SMART |
|
START
|
1338 |
1539 |
3.93e-59 |
SMART |
|
| Meta Mutation Damage Score |
0.2559 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (58/58) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a GTPase-activating protein (GAP) that is a member of the rhoGAP family of proteins which play a role in the regulation of small GTP-binding proteins. GAP family proteins participate in signaling pathways that regulate cell processes involved in cytoskeletal changes. This gene functions as a tumor suppressor gene in a number of common cancers, including prostate, lung, colorectal, and breast cancers. Multiple transcript variants due to alternative promoters and alternative splicing have been found for this gene.[provided by RefSeq, Apr 2010]
PHENOTYPE: Homozygous mutants die by E10.5 with variable defects in the neural tube, heart, brain and placenta. Mouse embryonic fibroblasts homozygous for an activated conditional allele exhibti increased sensitivity to Ras-induced transformation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg1l |
C |
T |
10: 42,291,544 (GRCm39) |
|
probably null |
Het |
| Ahnak2 |
A |
T |
12: 112,780,802 (GRCm38) |
V70E |
|
Het |
| Alpk3 |
A |
G |
7: 80,728,202 (GRCm39) |
E444G |
possibly damaging |
Het |
| Amer2 |
T |
A |
14: 60,617,123 (GRCm39) |
D439E |
possibly damaging |
Het |
| Ano6 |
A |
G |
15: 95,811,781 (GRCm39) |
Y222C |
probably damaging |
Het |
| Atp4a |
A |
C |
7: 30,421,944 (GRCm39) |
K827Q |
probably benign |
Het |
| Atp9a |
G |
A |
2: 168,576,047 (GRCm39) |
|
|
Het |
| Casp7 |
T |
A |
19: 56,424,793 (GRCm39) |
C171S |
probably damaging |
Het |
| Ccdc9b |
T |
A |
2: 118,591,164 (GRCm39) |
|
probably null |
Het |
| Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
| Cdkl1 |
A |
G |
12: 69,795,585 (GRCm39) |
L315S |
probably benign |
Het |
| Cfap91 |
A |
G |
16: 38,148,708 (GRCm39) |
I240T |
probably damaging |
Het |
| Crybg1 |
G |
T |
10: 43,873,619 (GRCm39) |
S1163* |
probably null |
Het |
| Csmd1 |
A |
T |
8: 17,077,295 (GRCm39) |
W121R |
probably damaging |
Het |
| Cyyr1 |
A |
T |
16: 85,262,493 (GRCm39) |
M88K |
possibly damaging |
Het |
| Dock2 |
T |
C |
11: 34,223,750 (GRCm39) |
E1128G |
possibly damaging |
Het |
| Dynap |
T |
A |
18: 70,374,320 (GRCm39) |
T69S |
possibly damaging |
Het |
| Esr1 |
T |
C |
10: 4,733,874 (GRCm39) |
C225R |
probably damaging |
Het |
| Fbxo31 |
C |
T |
8: 122,305,503 (GRCm39) |
|
probably benign |
Het |
| Fndc11 |
G |
A |
2: 180,863,893 (GRCm39) |
V233I |
possibly damaging |
Het |
| Fto |
T |
C |
8: 92,211,818 (GRCm39) |
F381S |
probably damaging |
Het |
| Gtf2ird1 |
A |
G |
5: 134,433,758 (GRCm39) |
L223P |
probably benign |
Het |
| Ifi214 |
A |
T |
1: 173,357,042 (GRCm39) |
H20Q |
probably damaging |
Het |
| Impa2 |
T |
A |
18: 67,439,806 (GRCm39) |
I101N |
probably damaging |
Het |
| Kidins220 |
A |
T |
12: 25,061,570 (GRCm39) |
T854S |
probably benign |
Het |
| Lamb1 |
T |
A |
12: 31,337,423 (GRCm39) |
C385S |
probably damaging |
Het |
| Lrrc8c |
A |
G |
5: 105,755,853 (GRCm39) |
S543G |
probably benign |
Het |
| Manba |
A |
T |
3: 135,248,137 (GRCm39) |
Y342F |
probably damaging |
Het |
| Map3k1 |
T |
C |
13: 111,893,231 (GRCm39) |
D758G |
probably benign |
Het |
| Mtor |
G |
T |
4: 148,630,942 (GRCm39) |
A2300S |
possibly damaging |
Het |
| Musk |
T |
A |
4: 58,373,409 (GRCm39) |
M793K |
probably damaging |
Het |
| Nup133 |
A |
C |
8: 124,649,153 (GRCm39) |
I563S |
probably benign |
Het |
| Or10ab4 |
G |
A |
7: 107,654,423 (GRCm39) |
R78Q |
probably damaging |
Het |
| Or10ag55-ps1 |
T |
A |
2: 87,114,725 (GRCm39) |
N30K |
probably benign |
Het |
| Or4k77 |
A |
G |
2: 111,199,693 (GRCm39) |
T239A |
probably damaging |
Het |
| Or8g21 |
A |
T |
9: 38,905,953 (GRCm39) |
Y259* |
probably null |
Het |
| Pcdh12 |
C |
A |
18: 38,416,100 (GRCm39) |
V342F |
probably damaging |
Het |
| Pcdhb4 |
T |
A |
18: 37,441,222 (GRCm39) |
H177Q |
possibly damaging |
Het |
| Pcnx2 |
G |
A |
8: 126,613,690 (GRCm39) |
A587V |
probably benign |
Het |
| Phkb |
C |
T |
8: 86,770,418 (GRCm39) |
P896S |
probably damaging |
Het |
| Prss36 |
A |
G |
7: 127,543,877 (GRCm39) |
S165P |
probably benign |
Het |
| Prss43 |
A |
G |
9: 110,657,671 (GRCm39) |
D190G |
probably damaging |
Het |
| Psmd14 |
T |
C |
2: 61,591,356 (GRCm39) |
V53A |
probably damaging |
Het |
| Sel1l3 |
T |
G |
5: 53,273,704 (GRCm39) |
H1054P |
probably damaging |
Het |
| Selenoh |
T |
C |
2: 84,500,631 (GRCm39) |
R70G |
probably damaging |
Het |
| Serpinb9d |
A |
G |
13: 33,378,617 (GRCm39) |
Q21R |
probably benign |
Het |
| Slc29a1 |
T |
C |
17: 45,899,288 (GRCm39) |
E262G |
probably benign |
Het |
| Slc7a14 |
A |
G |
3: 31,278,384 (GRCm39) |
L407P |
probably damaging |
Het |
| Smyd4 |
T |
C |
11: 75,281,325 (GRCm39) |
V266A |
possibly damaging |
Het |
| Spata31d1a |
T |
A |
13: 59,849,913 (GRCm39) |
R738S |
probably benign |
Het |
| Speer4a2 |
G |
A |
5: 26,292,993 (GRCm39) |
T67I |
probably benign |
Het |
| Srcin1 |
C |
T |
11: 97,442,715 (GRCm39) |
G38S |
probably damaging |
Het |
| Stab2 |
A |
T |
10: 86,838,972 (GRCm39) |
|
probably null |
Het |
| Syde2 |
A |
G |
3: 145,726,031 (GRCm39) |
N1308D |
possibly damaging |
Het |
| Trip11 |
A |
T |
12: 101,850,611 (GRCm39) |
M1151K |
probably damaging |
Het |
| Ttll4 |
A |
T |
1: 74,727,820 (GRCm39) |
I861F |
possibly damaging |
Het |
| Zfp319 |
G |
A |
8: 96,058,471 (GRCm39) |
|
probably benign |
Het |
| Zfp518b |
T |
C |
5: 38,831,907 (GRCm39) |
N33D |
probably benign |
Het |
| Zfp874a |
T |
A |
13: 67,591,415 (GRCm39) |
I90F |
probably benign |
Het |
| Zmiz2 |
G |
T |
11: 6,349,593 (GRCm39) |
V412L |
probably damaging |
Het |
|
| Other mutations in Dlc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00493:Dlc1
|
APN |
8 |
37,037,436 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL00807:Dlc1
|
APN |
8 |
37,040,002 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00924:Dlc1
|
APN |
8 |
37,405,368 (GRCm39) |
missense |
probably benign |
|
|
IGL01349:Dlc1
|
APN |
8 |
37,050,978 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01419:Dlc1
|
APN |
8 |
37,317,371 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01871:Dlc1
|
APN |
8 |
37,317,334 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01937:Dlc1
|
APN |
8 |
37,317,345 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02525:Dlc1
|
APN |
8 |
37,046,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02696:Dlc1
|
APN |
8 |
37,041,326 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL02826:Dlc1
|
APN |
8 |
37,037,429 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL03029:Dlc1
|
APN |
8 |
37,038,416 (GRCm39) |
splice site |
probably null |
|
|
BB001:Dlc1
|
UTSW |
8 |
37,038,570 (GRCm39) |
missense |
probably benign |
0.03 |
|
BB011:Dlc1
|
UTSW |
8 |
37,038,570 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02835:Dlc1
|
UTSW |
8 |
37,051,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0068:Dlc1
|
UTSW |
8 |
37,404,875 (GRCm39) |
missense |
probably benign |
|
|
R0068:Dlc1
|
UTSW |
8 |
37,404,875 (GRCm39) |
missense |
probably benign |
|
|
R0164:Dlc1
|
UTSW |
8 |
37,066,594 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0164:Dlc1
|
UTSW |
8 |
37,066,594 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0218:Dlc1
|
UTSW |
8 |
37,317,383 (GRCm39) |
missense |
probably benign |
|
|
R0419:Dlc1
|
UTSW |
8 |
37,050,740 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0513:Dlc1
|
UTSW |
8 |
37,051,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0645:Dlc1
|
UTSW |
8 |
37,041,203 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R0646:Dlc1
|
UTSW |
8 |
37,325,205 (GRCm39) |
missense |
probably benign |
|
|
R0727:Dlc1
|
UTSW |
8 |
37,039,828 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0792:Dlc1
|
UTSW |
8 |
37,405,702 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1061:Dlc1
|
UTSW |
8 |
37,325,205 (GRCm39) |
missense |
probably benign |
|
|
R1221:Dlc1
|
UTSW |
8 |
37,051,985 (GRCm39) |
missense |
probably benign |
|
|
R1440:Dlc1
|
UTSW |
8 |
37,060,617 (GRCm39) |
splice site |
probably benign |
|
|
R1501:Dlc1
|
UTSW |
8 |
37,405,302 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1606:Dlc1
|
UTSW |
8 |
37,317,406 (GRCm39) |
missense |
probably benign |
|
|
R1707:Dlc1
|
UTSW |
8 |
37,404,763 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1750:Dlc1
|
UTSW |
8 |
37,325,244 (GRCm39) |
splice site |
probably null |
|
|
R1762:Dlc1
|
UTSW |
8 |
37,404,739 (GRCm39) |
missense |
probably benign |
0.25 |
|
R2041:Dlc1
|
UTSW |
8 |
37,049,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2055:Dlc1
|
UTSW |
8 |
37,060,535 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2091:Dlc1
|
UTSW |
8 |
37,404,763 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2987:Dlc1
|
UTSW |
8 |
37,041,306 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4285:Dlc1
|
UTSW |
8 |
37,041,282 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R4294:Dlc1
|
UTSW |
8 |
37,051,907 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4631:Dlc1
|
UTSW |
8 |
37,404,712 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4828:Dlc1
|
UTSW |
8 |
37,317,400 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4867:Dlc1
|
UTSW |
8 |
37,051,799 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4902:Dlc1
|
UTSW |
8 |
37,044,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5067:Dlc1
|
UTSW |
8 |
37,051,647 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5068:Dlc1
|
UTSW |
8 |
37,405,184 (GRCm39) |
missense |
probably benign |
|
|
R5198:Dlc1
|
UTSW |
8 |
37,405,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5471:Dlc1
|
UTSW |
8 |
37,051,879 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5668:Dlc1
|
UTSW |
8 |
37,404,655 (GRCm39) |
unclassified |
probably benign |
|
|
R5915:Dlc1
|
UTSW |
8 |
37,405,829 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R6323:Dlc1
|
UTSW |
8 |
37,405,537 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6655:Dlc1
|
UTSW |
8 |
37,039,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6908:Dlc1
|
UTSW |
8 |
37,404,841 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6914:Dlc1
|
UTSW |
8 |
37,405,364 (GRCm39) |
missense |
probably benign |
|
|
R6942:Dlc1
|
UTSW |
8 |
37,405,364 (GRCm39) |
missense |
probably benign |
|
|
R7269:Dlc1
|
UTSW |
8 |
37,046,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7462:Dlc1
|
UTSW |
8 |
37,405,118 (GRCm39) |
missense |
unknown |
|
|
R7548:Dlc1
|
UTSW |
8 |
37,051,809 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7649:Dlc1
|
UTSW |
8 |
37,049,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7924:Dlc1
|
UTSW |
8 |
37,038,570 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7960:Dlc1
|
UTSW |
8 |
37,404,989 (GRCm39) |
missense |
probably benign |
|
|
R7984:Dlc1
|
UTSW |
8 |
37,405,472 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8227:Dlc1
|
UTSW |
8 |
37,039,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8491:Dlc1
|
UTSW |
8 |
37,052,000 (GRCm39) |
missense |
probably benign |
|
|
R8526:Dlc1
|
UTSW |
8 |
37,404,968 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8715:Dlc1
|
UTSW |
8 |
37,405,795 (GRCm39) |
start gained |
probably benign |
|
|
R8887:Dlc1
|
UTSW |
8 |
37,051,481 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8972:Dlc1
|
UTSW |
8 |
37,405,394 (GRCm39) |
nonsense |
probably null |
|
|
R8988:Dlc1
|
UTSW |
8 |
37,039,997 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9031:Dlc1
|
UTSW |
8 |
37,405,055 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9080:Dlc1
|
UTSW |
8 |
37,052,006 (GRCm39) |
missense |
probably benign |
|
|
R9092:Dlc1
|
UTSW |
8 |
37,199,860 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9096:Dlc1
|
UTSW |
8 |
37,080,721 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9097:Dlc1
|
UTSW |
8 |
37,080,721 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9166:Dlc1
|
UTSW |
8 |
37,066,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9187:Dlc1
|
UTSW |
8 |
37,405,786 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R9240:Dlc1
|
UTSW |
8 |
37,052,005 (GRCm39) |
missense |
probably benign |
|
|
R9276:Dlc1
|
UTSW |
8 |
37,046,558 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9325:Dlc1
|
UTSW |
8 |
37,038,518 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
Z1176:Dlc1
|
UTSW |
8 |
37,051,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACAGAACGGTCCTATGCTG -3'
(R):5'- TTCAGGGGTTACAAAGACAGTG -3'
Sequencing Primer
(F):5'- AGAACGGTCCTATGCTGAGTGC -3'
(R):5'- TTACAAAGACAGTGGGGGTG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation