Incidental Mutation 'R4631:Dlc1'
| ID |
349195 |
| 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 |
041896-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4631 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
37034905-37420297 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to C
at 37404712 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132812
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000163663]
[ENSMUST00000163663]
[ENSMUST00000179501]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000036104
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000163663
|
| SMART Domains |
Protein: ENSMUSP00000132812
Gene: ENSMUSG00000031523
| 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: ENSMUST00000163663
|
| SMART Domains |
Protein: ENSMUSP00000132812
Gene: ENSMUSG00000031523
| 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 |
noncoding transcript
Transcript: ENSMUST00000178717
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179501
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000179652
|
| Meta Mutation Damage Score |
0.9568 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
100% (84/84) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
A |
T |
9: 57,165,270 (GRCm39) |
L368Q |
probably damaging |
Het |
| Abcc2 |
C |
T |
19: 43,803,146 (GRCm39) |
P661S |
possibly damaging |
Het |
| Adgre4 |
T |
G |
17: 56,121,305 (GRCm39) |
M457R |
probably null |
Het |
| Ank |
C |
A |
15: 27,467,176 (GRCm39) |
F29L |
probably benign |
Het |
| Arhgap20 |
T |
C |
9: 51,751,653 (GRCm39) |
|
probably benign |
Het |
| Atf6 |
T |
C |
1: 170,574,766 (GRCm39) |
|
probably null |
Het |
| Bhmt1b |
G |
A |
18: 87,774,525 (GRCm39) |
R16H |
probably damaging |
Het |
| Bod1l |
A |
G |
5: 41,975,078 (GRCm39) |
F2079L |
probably damaging |
Het |
| Cd163 |
T |
C |
6: 124,306,045 (GRCm39) |
*1122Q |
probably null |
Het |
| Ces2g |
T |
C |
8: 105,694,094 (GRCm39) |
|
probably null |
Het |
| Cntnap3 |
A |
G |
13: 64,926,697 (GRCm39) |
Y558H |
probably benign |
Het |
| Ctsm |
T |
A |
13: 61,685,510 (GRCm39) |
S301C |
probably null |
Het |
| Dlg2 |
A |
T |
7: 91,737,822 (GRCm39) |
I435F |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,402,099 (GRCm39) |
V3420A |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,420,140 (GRCm39) |
Y3813N |
probably damaging |
Het |
| Dnajc13 |
A |
G |
9: 104,067,616 (GRCm39) |
M1181T |
probably damaging |
Het |
| Drc3 |
C |
A |
11: 60,255,734 (GRCm39) |
T107N |
probably benign |
Het |
| Dydc2 |
T |
C |
14: 40,771,286 (GRCm39) |
E131G |
probably benign |
Het |
| Eif5b |
T |
C |
1: 38,080,828 (GRCm39) |
V723A |
probably damaging |
Het |
| Fndc9 |
C |
A |
11: 46,128,675 (GRCm39) |
H65N |
possibly damaging |
Het |
| Fzd1 |
A |
T |
5: 4,805,865 (GRCm39) |
Y572* |
probably null |
Het |
| Gps1 |
T |
A |
11: 120,679,065 (GRCm39) |
|
probably null |
Het |
| Gvin3 |
A |
G |
7: 106,198,730 (GRCm39) |
|
noncoding transcript |
Het |
| Kazn |
G |
A |
4: 141,845,471 (GRCm39) |
|
probably benign |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Kcnip1 |
T |
A |
11: 33,942,821 (GRCm39) |
|
noncoding transcript |
Het |
| Kif19a |
A |
G |
11: 114,675,673 (GRCm39) |
I382V |
possibly damaging |
Het |
| Krt1 |
C |
T |
15: 101,754,622 (GRCm39) |
G543S |
unknown |
Het |
| Malsu1 |
A |
T |
6: 49,061,467 (GRCm39) |
E177V |
probably damaging |
Het |
| Man2a2 |
A |
G |
7: 80,012,211 (GRCm39) |
F649L |
probably benign |
Het |
| Map3k11 |
A |
G |
19: 5,740,941 (GRCm39) |
I223V |
probably benign |
Het |
| Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
| Myh9 |
T |
G |
15: 77,681,228 (GRCm39) |
D164A |
probably damaging |
Het |
| Myo16 |
T |
C |
8: 10,556,984 (GRCm39) |
I1040T |
probably damaging |
Het |
| Myo18b |
C |
T |
5: 112,994,266 (GRCm39) |
A896T |
probably damaging |
Het |
| Myocd |
G |
T |
11: 65,069,685 (GRCm39) |
N798K |
probably benign |
Het |
| Or13c7b |
T |
C |
4: 43,820,563 (GRCm39) |
D266G |
probably benign |
Het |
| Or1n1b |
T |
G |
2: 36,780,630 (GRCm39) |
T77P |
probably benign |
Het |
| Or2l13b |
G |
A |
16: 19,348,891 (GRCm39) |
R260* |
probably null |
Het |
| Or4c11 |
C |
T |
2: 88,695,174 (GRCm39) |
T75I |
probably benign |
Het |
| Or4g7 |
T |
A |
2: 111,309,908 (GRCm39) |
W260R |
probably damaging |
Het |
| Or52a5 |
A |
T |
7: 103,426,682 (GRCm39) |
L290Q |
probably damaging |
Het |
| Or5b105 |
T |
A |
19: 13,080,636 (GRCm39) |
I11F |
probably benign |
Het |
| Pcdh18 |
T |
A |
3: 49,710,890 (GRCm39) |
I142F |
probably damaging |
Het |
| Pcyox1 |
T |
C |
6: 86,366,212 (GRCm39) |
E334G |
possibly damaging |
Het |
| Pcyox1 |
T |
C |
6: 86,366,125 (GRCm39) |
D363G |
probably benign |
Het |
| Pgm2 |
A |
G |
5: 64,263,290 (GRCm39) |
|
probably null |
Het |
| Plagl1 |
T |
G |
10: 13,003,743 (GRCm39) |
|
probably benign |
Het |
| Ppp1r9a |
A |
G |
6: 4,906,537 (GRCm39) |
D364G |
possibly damaging |
Het |
| Rab2b |
T |
A |
14: 52,503,699 (GRCm39) |
H141L |
possibly damaging |
Het |
| Rev3l |
A |
G |
10: 39,704,412 (GRCm39) |
K279E |
probably benign |
Het |
| Rnf111 |
G |
T |
9: 70,357,678 (GRCm39) |
T607N |
probably benign |
Het |
| Scn8a |
C |
A |
15: 100,914,384 (GRCm39) |
S1130* |
probably null |
Het |
| Selenbp1 |
A |
G |
3: 94,851,879 (GRCm39) |
*473W |
probably null |
Het |
| Sh3bp4 |
A |
C |
1: 89,071,995 (GRCm39) |
D281A |
probably damaging |
Het |
| Skint5 |
T |
A |
4: 113,486,314 (GRCm39) |
|
probably null |
Het |
| Slc1a4 |
A |
G |
11: 20,258,452 (GRCm39) |
L249P |
probably damaging |
Het |
| Slc45a2 |
T |
A |
15: 11,012,662 (GRCm39) |
S222T |
probably benign |
Het |
| Slc7a4 |
A |
G |
16: 17,392,255 (GRCm39) |
F393S |
probably damaging |
Het |
| Slc9a2 |
A |
T |
1: 40,801,078 (GRCm39) |
D536V |
possibly damaging |
Het |
| Stra6 |
T |
A |
9: 58,048,115 (GRCm39) |
|
probably benign |
Het |
| Tmem145 |
A |
G |
7: 25,007,250 (GRCm39) |
D156G |
probably benign |
Het |
| Tns3 |
A |
C |
11: 8,401,119 (GRCm39) |
F1060V |
probably benign |
Het |
| Trak1 |
G |
A |
9: 121,283,491 (GRCm39) |
R419Q |
probably benign |
Het |
| Trappc8 |
A |
G |
18: 21,000,865 (GRCm39) |
S273P |
probably benign |
Het |
| Trmt11 |
A |
G |
10: 30,435,200 (GRCm39) |
S320P |
probably benign |
Het |
| Ugt1a6a |
A |
T |
1: 88,066,980 (GRCm39) |
Y262F |
probably benign |
Het |
| Vmn1r73 |
G |
A |
7: 11,490,758 (GRCm39) |
C192Y |
probably benign |
Het |
| Vmn2r103 |
T |
C |
17: 20,013,958 (GRCm39) |
I250T |
probably benign |
Het |
| Vmn2r25 |
T |
A |
6: 123,829,962 (GRCm39) |
D63V |
possibly damaging |
Het |
| Vps13b |
C |
T |
15: 35,646,278 (GRCm39) |
H1461Y |
possibly damaging |
Het |
| Ythdc2 |
A |
T |
18: 45,020,698 (GRCm39) |
E1427D |
probably benign |
Het |
| Zbed6 |
A |
T |
1: 133,586,482 (GRCm39) |
V285E |
probably damaging |
Het |
| Zbtb26 |
A |
G |
2: 37,326,968 (GRCm39) |
F23L |
probably benign |
Het |
| Zfp62 |
T |
A |
11: 49,108,632 (GRCm39) |
*908R |
probably null |
Het |
| Zfp975 |
A |
T |
7: 42,312,369 (GRCm39) |
N81K |
probably benign |
Het |
| Zkscan16 |
G |
A |
4: 58,951,918 (GRCm39) |
V198M |
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 |
|
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'- TCATGGTTTTATCAAGTGAGCG -3'
(R):5'- CTTATGTAGACAGAGGGCTGCC -3'
Sequencing Primer
(F):5'- GTGAGCGTTTTTCAATTTTACTAGC -3'
(R):5'- GGGCTGCCATTATTAAAAGCAGATTG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation