Incidental Mutation 'R1606:Dlc1'
| ID |
176484 |
| 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 |
039643-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1606 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
37034905-37420297 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37317406 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 423
(V423A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132812
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000163663]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000036104
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163663
AA Change: V423A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000132812
Gene: ENSMUSG00000031523
AA Change: V423A
| 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 |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 91.1%
|
| Validation Efficiency |
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
A |
G |
19: 43,825,091 (GRCm39) |
D1459G |
probably damaging |
Het |
| Adhfe1 |
G |
A |
1: 9,623,698 (GRCm39) |
|
probably null |
Het |
| Adsl |
C |
T |
15: 80,836,425 (GRCm39) |
Q61* |
probably null |
Het |
| Arhgap26 |
T |
A |
18: 39,429,925 (GRCm39) |
C214S |
probably damaging |
Het |
| Armc8 |
A |
T |
9: 99,419,782 (GRCm39) |
N9K |
probably damaging |
Het |
| Asxl1 |
A |
G |
2: 153,242,375 (GRCm39) |
D975G |
probably damaging |
Het |
| Atp8b3 |
T |
C |
10: 80,368,412 (GRCm39) |
E187G |
probably damaging |
Het |
| Bltp1 |
G |
A |
3: 36,996,548 (GRCm39) |
D1087N |
probably damaging |
Het |
| Cdcp2 |
T |
C |
4: 106,959,710 (GRCm39) |
S42P |
probably damaging |
Het |
| Chek1 |
A |
G |
9: 36,630,820 (GRCm39) |
L198P |
probably damaging |
Het |
| Dpy19l2 |
A |
G |
9: 24,492,511 (GRCm39) |
S696P |
probably benign |
Het |
| Echdc3 |
A |
T |
2: 6,200,438 (GRCm39) |
C183S |
possibly damaging |
Het |
| Exph5 |
A |
C |
9: 53,285,595 (GRCm39) |
D892A |
probably benign |
Het |
| Fam120b |
T |
A |
17: 15,622,073 (GRCm39) |
I17K |
possibly damaging |
Het |
| Fbln5 |
C |
T |
12: 101,731,457 (GRCm39) |
D246N |
probably benign |
Het |
| Fbxo15 |
A |
C |
18: 84,980,745 (GRCm39) |
K195T |
possibly damaging |
Het |
| Fzd1 |
C |
A |
5: 4,807,514 (GRCm39) |
E23* |
probably null |
Het |
| Gas2l1 |
C |
A |
11: 5,014,434 (GRCm39) |
A9S |
probably damaging |
Het |
| Gcc2 |
C |
T |
10: 58,105,270 (GRCm39) |
L69F |
probably damaging |
Het |
| Ggt6 |
C |
T |
11: 72,328,559 (GRCm39) |
A353V |
possibly damaging |
Het |
| Gphn |
T |
A |
12: 78,730,657 (GRCm39) |
V764E |
probably damaging |
Het |
| Grid1 |
A |
T |
14: 35,167,922 (GRCm39) |
Y482F |
probably damaging |
Het |
| Hlx |
G |
T |
1: 184,464,184 (GRCm39) |
A52D |
probably damaging |
Het |
| Ifit1bl1 |
C |
T |
19: 34,571,444 (GRCm39) |
V338M |
probably benign |
Het |
| Klhl14 |
T |
A |
18: 21,698,589 (GRCm39) |
Q408L |
possibly damaging |
Het |
| Lacc1 |
T |
A |
14: 77,267,081 (GRCm39) |
Q394L |
probably benign |
Het |
| Lcor |
T |
G |
19: 41,573,513 (GRCm39) |
M756R |
probably benign |
Het |
| Lipe |
A |
G |
7: 25,087,569 (GRCm39) |
F477L |
probably damaging |
Het |
| Lrig2 |
A |
G |
3: 104,387,423 (GRCm39) |
|
probably null |
Het |
| Megf8 |
T |
A |
7: 25,058,120 (GRCm39) |
H2131Q |
probably damaging |
Het |
| Nek1 |
A |
G |
8: 61,577,310 (GRCm39) |
D1097G |
possibly damaging |
Het |
| Nhlrc3 |
A |
T |
3: 53,366,078 (GRCm39) |
Y138* |
probably null |
Het |
| Nudcd2 |
T |
A |
11: 40,626,834 (GRCm39) |
|
probably null |
Het |
| Numb |
T |
C |
12: 83,847,784 (GRCm39) |
|
probably null |
Het |
| Or7h8 |
T |
G |
9: 20,124,242 (GRCm39) |
L199R |
probably benign |
Het |
| Pacrg |
G |
A |
17: 11,058,725 (GRCm39) |
Q11* |
probably null |
Het |
| Ppp1r37 |
A |
T |
7: 19,268,924 (GRCm39) |
M192K |
probably damaging |
Het |
| Prmt8 |
T |
A |
6: 127,666,799 (GRCm39) |
K392* |
probably null |
Het |
| Rab28 |
A |
T |
5: 41,855,795 (GRCm39) |
W67R |
probably damaging |
Het |
| Rad21l |
C |
T |
2: 151,496,606 (GRCm39) |
C365Y |
probably damaging |
Het |
| Rbm17 |
A |
T |
2: 11,600,208 (GRCm39) |
F147I |
probably benign |
Het |
| Rbm46 |
A |
C |
3: 82,771,848 (GRCm39) |
F256V |
probably damaging |
Het |
| Rcc1 |
A |
T |
4: 132,062,087 (GRCm39) |
|
probably null |
Het |
| Rnf217 |
G |
T |
10: 31,410,807 (GRCm39) |
T296N |
possibly damaging |
Het |
| Rnmt |
A |
G |
18: 68,444,724 (GRCm39) |
D231G |
possibly damaging |
Het |
| Rph3al |
C |
T |
11: 75,797,367 (GRCm39) |
V110I |
probably damaging |
Het |
| Rxfp2 |
T |
C |
5: 149,983,362 (GRCm39) |
M289T |
probably benign |
Het |
| Sash1 |
T |
C |
10: 8,605,721 (GRCm39) |
R890G |
probably benign |
Het |
| Sf3b2 |
A |
T |
19: 5,338,026 (GRCm39) |
D245E |
probably benign |
Het |
| Skint9 |
A |
T |
4: 112,246,398 (GRCm39) |
V238E |
probably benign |
Het |
| Slc26a8 |
T |
A |
17: 28,857,455 (GRCm39) |
D896V |
possibly damaging |
Het |
| Slc35b4 |
T |
A |
6: 34,135,323 (GRCm39) |
K330* |
probably null |
Het |
| Slco1a4 |
G |
T |
6: 141,785,337 (GRCm39) |
H84Q |
probably damaging |
Het |
| Sptbn2 |
G |
T |
19: 4,800,270 (GRCm39) |
|
probably null |
Het |
| St6galnac3 |
A |
T |
3: 152,912,305 (GRCm39) |
D227E |
probably benign |
Het |
| Tek |
G |
A |
4: 94,738,004 (GRCm39) |
D685N |
probably damaging |
Het |
| Trf |
G |
T |
9: 103,102,335 (GRCm39) |
|
probably null |
Het |
| Trpm5 |
T |
A |
7: 142,638,908 (GRCm39) |
K288* |
probably null |
Het |
| Ttn |
C |
T |
2: 76,567,356 (GRCm39) |
V27846I |
probably damaging |
Het |
| Tyr |
A |
T |
7: 87,087,179 (GRCm39) |
D444E |
probably benign |
Het |
| Ucp1 |
C |
A |
8: 84,021,933 (GRCm39) |
A255E |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,491,963 (GRCm39) |
D3084G |
probably benign |
Het |
| Yeats4 |
T |
C |
10: 117,053,344 (GRCm39) |
Y139C |
probably damaging |
Het |
| Zbtb6 |
A |
G |
2: 37,319,130 (GRCm39) |
V266A |
probably benign |
Het |
| Zfp784 |
A |
T |
7: 5,038,774 (GRCm39) |
N261K |
possibly 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 |
|
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 |
|
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'- GGGCAACAAGGACAGTAACTTACACTC -3'
(R):5'- AGGAAGTCCAGAAGGCATTTTGTTACC -3'
Sequencing Primer
(F):5'- GCAGCATACACTTTTAGGGTGAC -3'
(R):5'- ACCTATGTGATACTGAGTTCCTG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation