Incidental Mutation 'R0164:Dlc1'
| ID |
24341 |
| 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 |
038440-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0164 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
37034905-37420297 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 37066594 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 464
(E464V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132812
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033923]
[ENSMUST00000098826]
[ENSMUST00000163663]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033923
AA Change: Q13L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000033923
Gene: ENSMUSG00000031523
AA Change: Q13L
| 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 |
possibly damaging
Transcript: ENSMUST00000098826
AA Change: E47V
PolyPhen 2
Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000096425
Gene: ENSMUSG00000031523
AA Change: E47V
| 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 |
noncoding transcript
Transcript: ENSMUST00000145245
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163663
AA Change: E464V
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000132812
Gene: ENSMUSG00000031523
AA Change: E464V
| 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 |
0.4455 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| Validation Efficiency |
69% (18/26) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
T |
C |
9: 124,057,789 (GRCm39) |
|
probably benign |
Het |
| 4930522L14Rik |
T |
C |
5: 109,884,713 (GRCm39) |
K382E |
probably damaging |
Het |
| Adck1 |
A |
G |
12: 88,422,280 (GRCm39) |
E297G |
probably damaging |
Het |
| Aldh3a2 |
C |
T |
11: 61,139,714 (GRCm39) |
V473I |
probably benign |
Het |
| Arfgef3 |
A |
T |
10: 18,523,663 (GRCm39) |
I369K |
possibly damaging |
Het |
| Atp1b3 |
T |
C |
9: 96,220,762 (GRCm39) |
I178V |
possibly damaging |
Het |
| Axdnd1 |
T |
C |
1: 156,205,956 (GRCm39) |
E520G |
possibly damaging |
Het |
| BB019430 |
A |
T |
10: 58,540,093 (GRCm39) |
|
noncoding transcript |
Het |
| Btbd1 |
T |
A |
7: 81,450,751 (GRCm39) |
Q343L |
probably benign |
Het |
| Catsper1 |
A |
G |
19: 5,389,503 (GRCm39) |
T473A |
possibly damaging |
Het |
| Ccn4 |
T |
C |
15: 66,791,059 (GRCm39) |
L287P |
probably damaging |
Het |
| Chmp6 |
G |
A |
11: 119,806,349 (GRCm39) |
|
probably null |
Het |
| Cstdc7 |
T |
A |
18: 42,306,608 (GRCm39) |
D58E |
probably damaging |
Het |
| D130040H23Rik |
T |
C |
8: 69,755,195 (GRCm39) |
V200A |
possibly damaging |
Het |
| D830013O20Rik |
C |
T |
12: 73,411,105 (GRCm39) |
|
noncoding transcript |
Het |
| Dcaf1 |
T |
A |
9: 106,721,344 (GRCm39) |
S379T |
possibly damaging |
Het |
| Dhx58 |
T |
C |
11: 100,586,150 (GRCm39) |
I624V |
probably benign |
Het |
| Disp3 |
T |
C |
4: 148,338,708 (GRCm39) |
E821G |
probably damaging |
Het |
| Dnah10 |
G |
A |
5: 124,860,898 (GRCm39) |
V2151I |
probably damaging |
Het |
| Dnah8 |
G |
A |
17: 30,967,639 (GRCm39) |
G2617D |
probably benign |
Het |
| Dnah9 |
C |
A |
11: 65,809,630 (GRCm39) |
E872* |
probably null |
Het |
| Dock9 |
T |
C |
14: 121,835,077 (GRCm39) |
Y99C |
probably damaging |
Het |
| Dpy19l3 |
T |
A |
7: 35,416,071 (GRCm39) |
I310F |
probably damaging |
Het |
| Fggy |
A |
T |
4: 95,725,891 (GRCm39) |
I137F |
probably damaging |
Het |
| Gm14012 |
C |
T |
2: 128,079,936 (GRCm39) |
|
noncoding transcript |
Het |
| Gm14421 |
A |
T |
2: 176,748,515 (GRCm39) |
|
noncoding transcript |
Het |
| Grin2a |
A |
G |
16: 9,812,685 (GRCm39) |
|
probably null |
Het |
| Incenp |
A |
G |
19: 9,872,243 (GRCm39) |
S72P |
probably benign |
Het |
| Klc3 |
T |
A |
7: 19,128,851 (GRCm39) |
N469Y |
possibly damaging |
Het |
| Lrrc42 |
A |
G |
4: 107,104,702 (GRCm39) |
S88P |
probably benign |
Het |
| Lrrc49 |
G |
A |
9: 60,587,883 (GRCm39) |
T93I |
probably benign |
Het |
| Mlycd |
A |
T |
8: 120,134,380 (GRCm39) |
Q294L |
probably damaging |
Het |
| Mrpl22 |
T |
A |
11: 58,062,647 (GRCm39) |
I19N |
probably benign |
Het |
| Msh3 |
T |
A |
13: 92,485,717 (GRCm39) |
K202N |
probably damaging |
Het |
| Mucl2 |
C |
T |
15: 103,929,445 (GRCm39) |
|
probably null |
Het |
| Ncam1 |
C |
T |
9: 49,479,709 (GRCm39) |
D90N |
probably damaging |
Het |
| Nckap5 |
A |
T |
1: 125,952,144 (GRCm39) |
D1405E |
possibly damaging |
Het |
| Ncoa2 |
A |
G |
1: 13,256,955 (GRCm39) |
|
probably null |
Het |
| Nlrp1b |
A |
T |
11: 71,054,925 (GRCm39) |
W844R |
probably damaging |
Het |
| Nmnat1 |
G |
T |
4: 149,553,607 (GRCm39) |
N168K |
possibly damaging |
Het |
| Or5b96 |
A |
G |
19: 12,867,809 (GRCm39) |
L44P |
probably damaging |
Het |
| Ost4 |
T |
C |
5: 31,064,803 (GRCm39) |
H26R |
probably damaging |
Het |
| Otog |
G |
A |
7: 45,953,655 (GRCm39) |
V2638M |
probably damaging |
Het |
| Otogl |
A |
T |
10: 107,710,391 (GRCm39) |
I566N |
probably damaging |
Het |
| Pcyt1a |
T |
C |
16: 32,289,004 (GRCm39) |
S282P |
probably damaging |
Het |
| Prkcg |
G |
A |
7: 3,377,635 (GRCm39) |
E581K |
probably damaging |
Het |
| Ralgps2 |
A |
G |
1: 156,714,659 (GRCm39) |
|
probably null |
Het |
| Scmh1 |
T |
C |
4: 120,387,062 (GRCm39) |
|
probably benign |
Het |
| Sgo2b |
T |
C |
8: 64,391,417 (GRCm39) |
H150R |
possibly damaging |
Het |
| Sh2b3 |
T |
G |
5: 121,967,100 (GRCm39) |
T5P |
probably damaging |
Het |
| Tdp2 |
A |
G |
13: 25,022,222 (GRCm39) |
M214V |
probably damaging |
Het |
| Tmem204 |
A |
G |
17: 25,277,324 (GRCm39) |
I187T |
probably damaging |
Het |
| Tmem208 |
T |
G |
8: 106,061,326 (GRCm39) |
D117E |
probably benign |
Het |
| Tnks1bp1 |
C |
T |
2: 84,889,565 (GRCm39) |
P631S |
possibly damaging |
Het |
| Tomm70a |
T |
C |
16: 56,968,184 (GRCm39) |
V517A |
probably damaging |
Het |
| Ttc7 |
T |
C |
17: 87,687,323 (GRCm39) |
V801A |
probably damaging |
Het |
| Txndc5 |
A |
T |
13: 38,691,929 (GRCm39) |
C146S |
probably damaging |
Het |
| Ube4b |
G |
T |
4: 149,444,781 (GRCm39) |
T493K |
probably damaging |
Het |
| Ufl1 |
A |
T |
4: 25,256,008 (GRCm39) |
Y504N |
probably benign |
Het |
| Ulk3 |
T |
A |
9: 57,497,969 (GRCm39) |
I90N |
probably damaging |
Het |
| Unc13c |
T |
C |
9: 73,602,174 (GRCm39) |
I1357M |
probably benign |
Het |
| Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
probably benign |
Het |
| Vmn2r91 |
A |
C |
17: 18,326,399 (GRCm39) |
N228T |
probably benign |
Het |
| Zbtb6 |
G |
T |
2: 37,319,600 (GRCm39) |
Y109* |
probably null |
Het |
| Zfp640 |
G |
T |
13: 66,819,062 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp640 |
C |
A |
13: 66,819,038 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp980 |
A |
G |
4: 145,428,567 (GRCm39) |
D432G |
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 |
|
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 |
|
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 |
|
| Posted On |
2013-04-16 |
Incidental Mutation