Incidental Mutation 'R9031:Dlc1'
| ID |
687061 |
| 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 |
068860-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9031 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
37034905-37420297 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37405055 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 245
(S245P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132812
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000163663]
[ENSMUST00000179501]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163663
AA Change: S245P
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000132812
Gene: ENSMUSG00000031523
AA Change: S245P
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179501
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (81/81) |
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
G |
A |
19: 43,810,466 (GRCm39) |
R921H |
probably benign |
Het |
| Adcy5 |
A |
G |
16: 35,119,859 (GRCm39) |
I1123V |
probably damaging |
Het |
| Agr2 |
G |
C |
12: 36,045,565 (GRCm39) |
G17A |
probably benign |
Het |
| Akap6 |
A |
T |
12: 53,188,831 (GRCm39) |
T2082S |
probably benign |
Het |
| Asxl3 |
G |
T |
18: 22,657,401 (GRCm39) |
V1804F |
probably damaging |
Het |
| Atat1 |
A |
G |
17: 36,220,381 (GRCm39) |
V37A |
probably benign |
Het |
| Atp1a3 |
A |
T |
7: 24,689,212 (GRCm39) |
|
probably null |
Het |
| Bpifb1 |
A |
G |
2: 154,051,848 (GRCm39) |
T218A |
probably benign |
Het |
| C030006K11Rik |
T |
A |
15: 76,607,961 (GRCm39) |
Q19L |
probably benign |
Het |
| Ccdc138 |
T |
C |
10: 58,380,893 (GRCm39) |
F508S |
probably damaging |
Het |
| Ccdc81 |
T |
A |
7: 89,542,358 (GRCm39) |
M173L |
probably benign |
Het |
| Cdhr1 |
T |
C |
14: 36,815,976 (GRCm39) |
I141V |
probably benign |
Het |
| Chia1 |
T |
C |
3: 106,035,777 (GRCm39) |
F206L |
probably benign |
Het |
| Clca3a2 |
C |
T |
3: 144,511,475 (GRCm39) |
G640E |
probably damaging |
Het |
| Clcn7 |
T |
C |
17: 25,376,497 (GRCm39) |
V609A |
probably damaging |
Het |
| Cmklr2 |
T |
C |
1: 63,223,145 (GRCm39) |
E30G |
probably benign |
Het |
| Col22a1 |
C |
A |
15: 71,753,523 (GRCm39) |
G126* |
probably null |
Het |
| Cpne7 |
C |
T |
8: 123,856,951 (GRCm39) |
P402L |
probably damaging |
Het |
| Ctcfl |
A |
T |
2: 172,959,044 (GRCm39) |
D227E |
probably benign |
Het |
| Cwf19l2 |
A |
G |
9: 3,417,942 (GRCm39) |
D134G |
probably benign |
Het |
| Cyp2c65 |
C |
A |
19: 39,061,663 (GRCm39) |
C216* |
probably null |
Het |
| Cyp2d12 |
T |
A |
15: 82,443,423 (GRCm39) |
C462S |
probably null |
Het |
| Cyp4a12a |
A |
C |
4: 115,189,199 (GRCm39) |
*509Y |
probably null |
Het |
| Cyp4a12b |
A |
G |
4: 115,290,865 (GRCm39) |
M298V |
probably benign |
Het |
| Dennd4b |
T |
C |
3: 90,178,188 (GRCm39) |
V471A |
probably benign |
Het |
| Dnah1 |
C |
T |
14: 31,001,128 (GRCm39) |
G2406S |
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,956,401 (GRCm39) |
K2127R |
probably damaging |
Het |
| Dusp13b |
G |
A |
14: 21,790,233 (GRCm39) |
R38C |
probably benign |
Het |
| Ebf2 |
T |
A |
14: 67,472,594 (GRCm39) |
I4N |
probably benign |
Het |
| Eef1ece2 |
C |
T |
16: 20,459,375 (GRCm39) |
P570L |
probably damaging |
Het |
| Fcgbp |
A |
G |
7: 27,790,908 (GRCm39) |
N723S |
possibly damaging |
Het |
| Galnt15 |
T |
A |
14: 31,770,027 (GRCm39) |
V368E |
probably damaging |
Het |
| Garem2 |
A |
G |
5: 30,313,262 (GRCm39) |
E42G |
possibly damaging |
Het |
| Gcc1 |
C |
T |
6: 28,418,182 (GRCm39) |
S717N |
probably damaging |
Het |
| Gfm2 |
T |
C |
13: 97,309,201 (GRCm39) |
|
probably null |
Het |
| Helb |
T |
C |
10: 119,920,790 (GRCm39) |
D1051G |
possibly damaging |
Het |
| Helz2 |
T |
A |
2: 180,874,261 (GRCm39) |
I2078F |
possibly damaging |
Het |
| Hsph1 |
A |
T |
5: 149,553,270 (GRCm39) |
V297D |
probably damaging |
Het |
| Ifnar1 |
A |
G |
16: 91,302,079 (GRCm39) |
Y518C |
probably benign |
Het |
| Kcnip2 |
T |
A |
19: 45,783,210 (GRCm39) |
D153V |
probably damaging |
Het |
| Kif15 |
A |
T |
9: 122,846,492 (GRCm39) |
|
probably benign |
Het |
| Kif21b |
T |
C |
1: 136,073,042 (GRCm39) |
F147L |
probably damaging |
Het |
| Klhl29 |
T |
C |
12: 5,140,537 (GRCm39) |
R702G |
probably damaging |
Het |
| Lemd3 |
C |
T |
10: 120,767,878 (GRCm39) |
E667K |
possibly damaging |
Het |
| Loxl3 |
T |
C |
6: 83,012,503 (GRCm39) |
L14P |
probably damaging |
Het |
| Lrrd1 |
A |
T |
5: 3,900,963 (GRCm39) |
K423* |
probably null |
Het |
| Mia2 |
A |
G |
12: 59,155,586 (GRCm39) |
D433G |
probably damaging |
Het |
| Mpp2 |
G |
T |
11: 101,954,099 (GRCm39) |
A216E |
probably benign |
Het |
| Mro |
T |
C |
18: 74,009,911 (GRCm39) |
|
probably null |
Het |
| Mybpc1 |
T |
G |
10: 88,358,906 (GRCm39) |
Y1081S |
probably damaging |
Het |
| Myh8 |
T |
G |
11: 67,190,141 (GRCm39) |
S1260R |
possibly damaging |
Het |
| Myo3b |
T |
C |
2: 70,082,094 (GRCm39) |
V618A |
probably damaging |
Het |
| Naip2 |
T |
G |
13: 100,314,776 (GRCm39) |
D334A |
possibly damaging |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| Nlrp4c |
T |
C |
7: 6,107,608 (GRCm39) |
*983Q |
probably null |
Het |
| Nlrp9a |
T |
G |
7: 26,257,698 (GRCm39) |
F439V |
probably damaging |
Het |
| Nploc4 |
A |
T |
11: 120,319,368 (GRCm39) |
L64H |
probably damaging |
Het |
| Ola1 |
T |
C |
2: 72,924,060 (GRCm39) |
E246G |
probably benign |
Het |
| Otof |
G |
A |
5: 30,537,532 (GRCm39) |
S1259F |
probably benign |
Het |
| Pde4dip |
T |
C |
3: 97,599,675 (GRCm39) |
T2438A |
probably damaging |
Het |
| Pex1 |
A |
G |
5: 3,686,844 (GRCm39) |
T1242A |
probably damaging |
Het |
| Pink1 |
A |
T |
4: 138,043,056 (GRCm39) |
|
probably benign |
Het |
| Prkcq |
A |
G |
2: 11,251,819 (GRCm39) |
T219A |
probably damaging |
Het |
| Ptcd3 |
A |
T |
6: 71,880,458 (GRCm39) |
Y88* |
probably null |
Het |
| Ptpru |
A |
G |
4: 131,515,691 (GRCm39) |
Y888H |
probably damaging |
Het |
| Rapgef6 |
A |
G |
11: 54,578,667 (GRCm39) |
N1063S |
probably benign |
Het |
| Slc1a4 |
G |
A |
11: 20,282,532 (GRCm39) |
|
probably benign |
Het |
| Slc4a4 |
T |
C |
5: 89,205,568 (GRCm39) |
|
probably benign |
Het |
| Slc6a18 |
A |
T |
13: 73,819,822 (GRCm39) |
N249K |
possibly damaging |
Het |
| Slco2b1 |
T |
G |
7: 99,338,214 (GRCm39) |
I104L |
probably damaging |
Het |
| Syne3 |
A |
T |
12: 104,905,871 (GRCm39) |
S897R |
probably benign |
Het |
| Tlcd5 |
C |
T |
9: 43,022,664 (GRCm39) |
R230Q |
probably benign |
Het |
| Tnni3k |
A |
G |
3: 154,744,146 (GRCm39) |
S69P |
probably damaging |
Het |
| Tnpo2 |
A |
G |
8: 85,780,163 (GRCm39) |
K700E |
probably benign |
Het |
| Top3a |
T |
C |
11: 60,636,695 (GRCm39) |
K657E |
probably damaging |
Het |
| Trgv4 |
C |
T |
13: 19,369,169 (GRCm39) |
Q7* |
probably null |
Het |
| Trim6 |
T |
C |
7: 103,875,159 (GRCm39) |
L132P |
probably damaging |
Het |
| Tshz1 |
T |
C |
18: 84,032,987 (GRCm39) |
T474A |
probably benign |
Het |
| Unc13d |
AATGCCTCCCATGCC |
AATGCCTCCCATGCCTCCCATGCC |
11: 115,958,998 (GRCm39) |
|
probably benign |
Het |
| Vmn1r179 |
A |
T |
7: 23,628,234 (GRCm39) |
I142L |
probably benign |
Het |
| Zbtb2 |
A |
T |
10: 4,319,183 (GRCm39) |
F281Y |
probably damaging |
Het |
| Zfp318 |
T |
C |
17: 46,723,433 (GRCm39) |
V1812A |
probably benign |
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 |
|
R7271:Dlc1
|
UTSW |
8 |
37,049,954 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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'- TTCTGCTGACATCCCACCAG -3'
(R):5'- TCTCCAGCAGAAGGAAGTGG -3'
Sequencing Primer
(F):5'- CCACCAGGGCAGGAAGG -3'
(R):5'- TGTTGAGGCTATAAATAAAAGCCTGG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation