Incidental Mutation 'R9325:Dlc1'
| ID |
706466 |
| 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 # |
R9325 (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 T
at 37038518 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 1020
(V1020E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033923
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033923]
[ENSMUST00000098826]
[ENSMUST00000163663]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000033923
AA Change: V1020E
PolyPhen 2
Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000033923
Gene: ENSMUSG00000031523
AA Change: V1020E
| 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: V1054E
PolyPhen 2
Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000096425
Gene: ENSMUSG00000031523
AA Change: V1054E
| 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 |
possibly damaging
Transcript: ENSMUST00000163663
AA Change: V1471E
PolyPhen 2
Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000132812
Gene: ENSMUSG00000031523
AA Change: V1471E
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (59/60) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,646,578 (GRCm39) |
D1076G |
possibly damaging |
Het |
| Aadacl2fm1 |
T |
A |
3: 59,843,862 (GRCm39) |
N185K |
probably benign |
Het |
| Adamts9 |
T |
C |
6: 92,849,279 (GRCm39) |
D1060G |
probably benign |
Het |
| Ahnak |
T |
A |
19: 8,991,257 (GRCm39) |
D4180E |
probably benign |
Het |
| Ank2 |
A |
C |
3: 126,775,504 (GRCm39) |
F42V |
probably damaging |
Het |
| Ankib1 |
A |
G |
5: 3,822,523 (GRCm39) |
I61T |
possibly damaging |
Het |
| Arhgap9 |
T |
C |
10: 127,161,722 (GRCm39) |
S238P |
probably damaging |
Het |
| Bpifa3 |
A |
T |
2: 153,975,600 (GRCm39) |
I57F |
probably damaging |
Het |
| Cdh17 |
A |
G |
4: 11,810,319 (GRCm39) |
Y670C |
probably damaging |
Het |
| Ceacam20 |
C |
A |
7: 19,720,607 (GRCm39) |
R515S |
probably benign |
Het |
| Cers5 |
A |
T |
15: 99,637,338 (GRCm39) |
V274E |
probably damaging |
Het |
| Clip1 |
T |
C |
5: 123,751,186 (GRCm39) |
D865G |
|
Het |
| Cnih3 |
G |
A |
1: 181,181,072 (GRCm39) |
|
probably null |
Het |
| Coro2b |
G |
T |
9: 62,396,609 (GRCm39) |
H44N |
probably benign |
Het |
| Cuta |
A |
G |
17: 27,158,289 (GRCm39) |
|
probably null |
Het |
| Dchs1 |
T |
C |
7: 105,415,402 (GRCm39) |
I625V |
possibly damaging |
Het |
| Ddx4 |
A |
T |
13: 112,736,441 (GRCm39) |
F643Y |
probably damaging |
Het |
| Dnah1 |
G |
T |
14: 30,998,160 (GRCm39) |
T2559K |
possibly damaging |
Het |
| Eng |
C |
T |
2: 32,561,445 (GRCm39) |
A152V |
probably damaging |
Het |
| F7 |
G |
T |
8: 13,083,430 (GRCm39) |
R190L |
probably benign |
Het |
| Fcgr4 |
T |
C |
1: 170,847,711 (GRCm39) |
V103A |
probably damaging |
Het |
| Fer1l4 |
C |
T |
2: 155,877,934 (GRCm39) |
V1005I |
probably damaging |
Het |
| Fmod |
A |
T |
1: 133,968,371 (GRCm39) |
H137L |
probably damaging |
Het |
| Fndc7 |
T |
C |
3: 108,790,834 (GRCm39) |
D64G |
possibly damaging |
Het |
| Gucy2c |
A |
T |
6: 136,743,992 (GRCm39) |
C202* |
probably null |
Het |
| Hspg2 |
C |
T |
4: 137,265,552 (GRCm39) |
R1783W |
probably damaging |
Het |
| Hyal6 |
T |
A |
6: 24,743,455 (GRCm39) |
S384T |
probably damaging |
Het |
| Igsf21 |
T |
A |
4: 139,794,466 (GRCm39) |
I136F |
probably damaging |
Het |
| Isl1 |
A |
G |
13: 116,436,105 (GRCm39) |
S321P |
probably damaging |
Het |
| Kif5c |
A |
G |
2: 49,639,378 (GRCm39) |
K813R |
probably benign |
Het |
| Klk7 |
A |
G |
7: 43,461,437 (GRCm39) |
E18G |
possibly damaging |
Het |
| Lox |
T |
C |
18: 52,661,400 (GRCm39) |
M225V |
probably benign |
Het |
| Lrrfip2 |
T |
A |
9: 110,990,429 (GRCm39) |
M50K |
possibly damaging |
Het |
| Lrrn2 |
A |
T |
1: 132,865,241 (GRCm39) |
Q102L |
probably damaging |
Het |
| Mcm3 |
T |
C |
1: 20,875,562 (GRCm39) |
R692G |
probably benign |
Het |
| Mmp14 |
T |
C |
14: 54,676,248 (GRCm39) |
V326A |
probably damaging |
Het |
| Muc2 |
G |
A |
7: 141,298,559 (GRCm39) |
M70I |
|
Het |
| Nefl |
T |
C |
14: 68,322,460 (GRCm39) |
|
probably null |
Het |
| Nlrp4e |
C |
G |
7: 23,020,755 (GRCm39) |
A414G |
probably benign |
Het |
| Nup188 |
T |
A |
2: 30,212,271 (GRCm39) |
L586Q |
probably damaging |
Het |
| Or10ag58 |
G |
A |
2: 87,265,290 (GRCm39) |
G153D |
possibly damaging |
Het |
| Or8c13 |
T |
C |
9: 38,091,327 (GRCm39) |
D264G |
probably benign |
Het |
| Pik3c2a |
A |
T |
7: 115,990,558 (GRCm39) |
D467E |
probably damaging |
Het |
| Polr2g |
T |
A |
19: 8,774,669 (GRCm39) |
K71N |
probably benign |
Het |
| Pramel31 |
A |
G |
4: 144,089,093 (GRCm39) |
H137R |
probably benign |
Het |
| Prkci |
A |
G |
3: 31,085,333 (GRCm39) |
K184R |
probably damaging |
Het |
| Prr15 |
G |
A |
6: 54,306,137 (GRCm39) |
|
probably benign |
Het |
| Rin2 |
T |
A |
2: 145,727,819 (GRCm39) |
N896K |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,479,640 (GRCm39) |
E4414G |
probably damaging |
Het |
| Slc4a4 |
T |
A |
5: 89,376,756 (GRCm39) |
D994E |
probably damaging |
Het |
| Slc6a4 |
C |
A |
11: 76,909,999 (GRCm39) |
P418Q |
probably benign |
Het |
| Smarcc2 |
T |
A |
10: 128,324,076 (GRCm39) |
M1138K |
unknown |
Het |
| Snph |
C |
T |
2: 151,436,208 (GRCm39) |
R240Q |
probably damaging |
Het |
| Stox2 |
T |
A |
8: 47,647,095 (GRCm39) |
T122S |
probably benign |
Het |
| Tmem131l |
T |
C |
3: 83,817,768 (GRCm39) |
D1244G |
probably benign |
Het |
| Tmem168 |
T |
C |
6: 13,583,253 (GRCm39) |
I543V |
probably benign |
Het |
| Tyw1 |
T |
C |
5: 130,291,762 (GRCm39) |
S77P |
probably damaging |
Het |
| Usp36 |
T |
G |
11: 118,160,031 (GRCm39) |
D471A |
possibly damaging |
Het |
| Vmn2r102 |
A |
G |
17: 19,897,558 (GRCm39) |
Y191C |
probably damaging |
Het |
| Vmn2r104 |
T |
C |
17: 20,268,433 (GRCm39) |
Q12R |
possibly damaging |
Het |
| Zfp820 |
A |
T |
17: 22,038,380 (GRCm39) |
I316N |
probably damaging |
Het |
| Zscan4-ps3 |
T |
C |
7: 11,344,227 (GRCm39) |
F62L |
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 |
|
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 |
|
Z1176:Dlc1
|
UTSW |
8 |
37,051,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTAGGTCTCCAAAACACAGTGACAG -3'
(R):5'- AGGTTGTCCACACAGAGTCC -3'
Sequencing Primer
(F):5'- ACAGTGACAGGCTCATGTC -3'
(R):5'- TGTCCACACAGAGTCCATGCG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation