Incidental Mutation 'R9187:Dlc1'
ID |
697447 |
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 |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9187 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
37034905-37420297 bp(-) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
A to T
at 37405786 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137498
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000163663]
[ENSMUST00000179501]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000163663
AA Change: M1K
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000132812 Gene: ENSMUSG00000031523 AA Change: M1K
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 null
Transcript: ENSMUST00000179501
AA Change: M1K
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
Validation Efficiency |
97% (70/72) |
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca5 |
A |
G |
11: 110,200,961 (GRCm39) |
|
probably null |
Het |
Abcb1a |
T |
A |
5: 8,765,016 (GRCm39) |
C669S |
probably benign |
Het |
Abcc3 |
A |
G |
11: 94,255,913 (GRCm39) |
L524P |
probably damaging |
Het |
Akap5 |
A |
T |
12: 76,376,745 (GRCm39) |
K726* |
probably null |
Het |
Aldh16a1 |
T |
C |
7: 44,791,441 (GRCm39) |
E778G |
probably damaging |
Het |
Ankle2 |
G |
A |
5: 110,400,610 (GRCm39) |
V649M |
possibly damaging |
Het |
Apon |
A |
G |
10: 128,090,832 (GRCm39) |
N170S |
probably benign |
Het |
Baiap2l1 |
T |
C |
5: 144,217,764 (GRCm39) |
Y274C |
probably benign |
Het |
Bub1 |
A |
T |
2: 127,656,856 (GRCm39) |
N425K |
possibly damaging |
Het |
Camsap1 |
A |
G |
2: 25,820,028 (GRCm39) |
C1487R |
probably damaging |
Het |
Cd4 |
A |
C |
6: 124,844,651 (GRCm39) |
V378G |
probably damaging |
Het |
Cenpa |
C |
A |
5: 30,824,380 (GRCm39) |
P3Q |
unknown |
Het |
Cfap44 |
T |
C |
16: 44,225,144 (GRCm39) |
|
probably benign |
Het |
Cfap65 |
T |
A |
1: 74,956,517 (GRCm39) |
M1021L |
probably benign |
Het |
Ddx39a |
G |
T |
8: 84,449,113 (GRCm39) |
M300I |
probably benign |
Het |
Dgkh |
T |
C |
14: 78,832,601 (GRCm39) |
R819G |
probably damaging |
Het |
Dnah9 |
A |
G |
11: 65,895,972 (GRCm39) |
W2468R |
probably benign |
Het |
Ebag9 |
A |
T |
15: 44,503,706 (GRCm39) |
K177I |
probably damaging |
Het |
Ehbp1 |
T |
C |
11: 22,101,184 (GRCm39) |
I249V |
probably damaging |
Het |
Fam171b |
T |
C |
2: 83,710,365 (GRCm39) |
V679A |
probably damaging |
Het |
Gabbr2 |
G |
A |
4: 46,674,533 (GRCm39) |
T818I |
probably damaging |
Het |
Gcn1 |
T |
C |
5: 115,752,177 (GRCm39) |
S2098P |
probably damaging |
Het |
Glb1 |
T |
C |
9: 114,302,991 (GRCm39) |
I609T |
probably damaging |
Het |
Gm5916 |
T |
G |
9: 36,032,020 (GRCm39) |
H88P |
probably benign |
Het |
Gon4l |
T |
C |
3: 88,786,618 (GRCm39) |
S586P |
probably benign |
Het |
Gzmg |
T |
A |
14: 56,394,714 (GRCm39) |
T185S |
probably benign |
Het |
Hipk3 |
T |
A |
2: 104,276,936 (GRCm39) |
D381V |
probably damaging |
Het |
Hnrnpul2 |
C |
A |
19: 8,808,319 (GRCm39) |
N681K |
probably benign |
Het |
Hpdl |
C |
A |
4: 116,678,372 (GRCm39) |
G30C |
probably damaging |
Het |
Iws1 |
G |
A |
18: 32,213,213 (GRCm39) |
E214K |
possibly damaging |
Het |
Krt82 |
C |
A |
15: 101,450,260 (GRCm39) |
V479L |
probably benign |
Het |
Lama4 |
G |
A |
10: 38,924,124 (GRCm39) |
|
probably null |
Het |
Lamc1 |
C |
A |
1: 153,097,434 (GRCm39) |
E1537* |
probably null |
Het |
Mab21l3 |
G |
A |
3: 101,730,594 (GRCm39) |
T215M |
probably benign |
Het |
Magi3 |
C |
A |
3: 103,923,073 (GRCm39) |
V1215F |
possibly damaging |
Het |
Mical2 |
T |
A |
7: 111,902,797 (GRCm39) |
C89* |
probably null |
Het |
Mitf |
T |
A |
6: 97,994,835 (GRCm39) |
V427D |
probably benign |
Het |
Muc4 |
T |
C |
16: 32,589,102 (GRCm39) |
V753A |
|
Het |
Myo16 |
G |
A |
8: 10,492,233 (GRCm39) |
R725H |
unknown |
Het |
Ncapg2 |
T |
A |
12: 116,402,287 (GRCm39) |
D706E |
probably damaging |
Het |
Ndst1 |
T |
C |
18: 60,824,268 (GRCm39) |
D803G |
probably benign |
Het |
Neb |
A |
T |
2: 52,096,115 (GRCm39) |
V5065D |
probably damaging |
Het |
Npm3 |
G |
A |
19: 45,737,941 (GRCm39) |
R19* |
probably null |
Het |
Ntrk3 |
A |
C |
7: 77,896,966 (GRCm39) |
N690K |
possibly damaging |
Het |
Or7g32 |
T |
C |
9: 19,389,166 (GRCm39) |
I127V |
probably benign |
Het |
Or7g35 |
T |
C |
9: 19,495,950 (GRCm39) |
I39T |
probably benign |
Het |
Or8d4 |
C |
A |
9: 40,038,886 (GRCm39) |
V124L |
possibly damaging |
Het |
P3h2 |
G |
A |
16: 25,924,186 (GRCm39) |
A83V |
probably benign |
Het |
Pdia2 |
A |
G |
17: 26,415,910 (GRCm39) |
S362P |
probably damaging |
Het |
Pmp22 |
C |
T |
11: 63,025,268 (GRCm39) |
H34Y |
probably benign |
Het |
Pmp22 |
T |
C |
11: 63,025,317 (GRCm39) |
V50A |
probably benign |
Het |
Ppfia4 |
T |
C |
1: 134,255,006 (GRCm39) |
D283G |
probably damaging |
Het |
Pramel58 |
T |
C |
5: 94,831,755 (GRCm39) |
V254A |
probably benign |
Het |
Prss55 |
T |
A |
14: 64,314,531 (GRCm39) |
Q213L |
probably null |
Het |
Rgsl1 |
C |
T |
1: 153,669,613 (GRCm39) |
E258K |
possibly damaging |
Het |
Ripor2 |
T |
C |
13: 24,897,632 (GRCm39) |
F777L |
probably benign |
Het |
Rsf1 |
GGC |
GGCGGCGGCCGC |
7: 97,229,140 (GRCm39) |
|
probably benign |
Het |
Sgce |
G |
A |
6: 4,711,362 (GRCm39) |
R173C |
probably benign |
Het |
Sncaip |
T |
G |
18: 53,040,011 (GRCm39) |
M735R |
probably benign |
Het |
Snrpd2 |
T |
A |
7: 18,886,505 (GRCm39) |
I96N |
probably damaging |
Het |
Spryd3 |
T |
G |
15: 102,039,110 (GRCm39) |
D121A |
probably damaging |
Het |
Srsf3-ps |
A |
G |
11: 98,516,187 (GRCm39) |
V62A |
possibly damaging |
Het |
Sspo |
T |
C |
6: 48,472,223 (GRCm39) |
C149R |
probably damaging |
Het |
Tbc1d10b |
A |
T |
7: 126,807,105 (GRCm39) |
M144K |
probably benign |
Het |
Tbc1d31 |
T |
A |
15: 57,779,485 (GRCm39) |
I66N |
probably damaging |
Het |
Tssk1 |
A |
G |
16: 17,712,457 (GRCm39) |
T81A |
possibly damaging |
Het |
Ttc28 |
A |
G |
5: 111,249,902 (GRCm39) |
Y284C |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,573,755 (GRCm39) |
T25713A |
probably benign |
Het |
Vmn2r125 |
T |
C |
4: 156,703,554 (GRCm39) |
W311R |
probably damaging |
Het |
Vmn2r80 |
A |
T |
10: 79,030,438 (GRCm39) |
T755S |
probably benign |
Het |
Vmn2r98 |
T |
C |
17: 19,301,481 (GRCm39) |
C828R |
probably damaging |
Het |
Wwox |
T |
C |
8: 115,438,978 (GRCm39) |
F348S |
probably damaging |
Het |
Zeb2 |
T |
A |
2: 45,000,040 (GRCm39) |
R65W |
possibly damaging |
Het |
Zfp712 |
T |
A |
13: 67,188,637 (GRCm39) |
H630L |
probably damaging |
Het |
Zfp764 |
G |
T |
7: 127,004,608 (GRCm39) |
H174Q |
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 |
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 |
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 |
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'- TTGTCTCTGACCCACAACAGC -3'
(R):5'- AGCACAGATTAGATCCTTTGCC -3'
Sequencing Primer
(F):5'- GGTAGAGAGGCACACTTCTC -3'
(R):5'- CATGGCAGATCACACTCT -3'
|
Posted On |
2022-02-07 |