Incidental Mutation 'R2987:Dlc1'
| ID |
257823 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dlc1
|
| Ensembl Gene |
ENSMUSG00000031523 |
| Gene Name |
deleted in liver cancer 1 |
| Synonyms |
Arhgap7, A730069N07Rik, STARD12, p122-RhoGAP |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2987 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
36567751-36953143 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 36574152 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 1308
(C1308S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132812
(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: C857S
PolyPhen 2
Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000033923
Gene: ENSMUSG00000031523
AA Change: C857S
| 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: C891S
PolyPhen 2
Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000096425
Gene: ENSMUSG00000031523
AA Change: C891S
| 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: ENSMUST00000156312
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163663
AA Change: C1308S
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000132812
Gene: ENSMUSG00000031523
AA Change: C1308S
| 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: 99.4%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 94.5%
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf3 |
T |
C |
5: 30,197,360 |
I557V |
probably damaging |
Het |
| Bag6 |
T |
A |
17: 35,145,685 |
L983* |
probably null |
Het |
| Clcn1 |
A |
G |
6: 42,298,850 |
Y302C |
probably damaging |
Het |
| Ebna1bp2 |
A |
G |
4: 118,620,936 |
D2G |
probably damaging |
Het |
| Exoc6b |
T |
A |
6: 84,851,947 |
K485I |
probably damaging |
Het |
| Galnt3 |
C |
T |
2: 66,084,241 |
E611K |
probably benign |
Het |
| Gm5901 |
A |
G |
7: 105,377,300 |
I92V |
probably benign |
Het |
| Kcnh8 |
A |
T |
17: 52,956,735 |
L753F |
probably benign |
Het |
| L3mbtl4 |
T |
C |
17: 68,359,518 |
S14P |
possibly damaging |
Het |
| Map4k4 |
A |
G |
1: 39,986,765 |
H305R |
probably damaging |
Het |
| Nid1 |
A |
T |
13: 13,499,673 |
Y879F |
probably benign |
Het |
| Nsf |
A |
T |
11: 103,859,043 |
|
probably null |
Het |
| Olfml2a |
G |
A |
2: 38,947,294 |
V150M |
probably damaging |
Het |
| Olfr645 |
A |
G |
7: 104,084,870 |
V70A |
probably benign |
Het |
| Pkhd1 |
A |
T |
1: 20,104,599 |
D3744E |
possibly damaging |
Het |
| Pla1a |
A |
T |
16: 38,407,742 |
C258S |
probably damaging |
Het |
| Plk2 |
A |
T |
13: 110,397,709 |
R274S |
probably benign |
Het |
| Sumf2 |
T |
C |
5: 129,847,084 |
L30P |
possibly damaging |
Het |
| Synpo2 |
T |
C |
3: 123,116,973 |
H341R |
probably damaging |
Het |
| Trbv12-1 |
G |
A |
6: 41,113,906 |
E71K |
probably benign |
Het |
| Usp17lc |
T |
C |
7: 103,418,302 |
V268A |
probably damaging |
Het |
| Vmn1r36 |
A |
T |
6: 66,716,716 |
H21Q |
probably benign |
Het |
|
| Other mutations in Dlc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00493:Dlc1
|
APN |
8 |
36570282 |
utr 3 prime |
probably benign |
|
|
IGL00807:Dlc1
|
APN |
8 |
36572848 |
missense |
probably benign |
0.01 |
|
IGL00924:Dlc1
|
APN |
8 |
36938214 |
missense |
probably benign |
|
|
IGL01349:Dlc1
|
APN |
8 |
36583824 |
missense |
probably damaging |
0.96 |
|
IGL01419:Dlc1
|
APN |
8 |
36850217 |
missense |
probably benign |
0.02 |
|
IGL01871:Dlc1
|
APN |
8 |
36850180 |
missense |
probably damaging |
0.99 |
|
IGL01937:Dlc1
|
APN |
8 |
36850191 |
missense |
probably benign |
0.25 |
|
IGL02525:Dlc1
|
APN |
8 |
36579646 |
missense |
probably damaging |
1.00 |
|
IGL02696:Dlc1
|
APN |
8 |
36574172 |
missense |
possibly damaging |
0.65 |
|
IGL02826:Dlc1
|
APN |
8 |
36570275 |
utr 3 prime |
probably benign |
|
|
IGL03029:Dlc1
|
APN |
8 |
36571262 |
splice site |
probably null |
|
|
BB001:Dlc1
|
UTSW |
8 |
36571416 |
missense |
probably benign |
0.03 |
|
BB011:Dlc1
|
UTSW |
8 |
36571416 |
missense |
probably benign |
0.03 |
|
IGL02835:Dlc1
|
UTSW |
8 |
36583901 |
missense |
probably damaging |
1.00 |
|
R0068:Dlc1
|
UTSW |
8 |
36937721 |
missense |
probably benign |
|
|
R0068:Dlc1
|
UTSW |
8 |
36937721 |
missense |
probably benign |
|
|
R0164:Dlc1
|
UTSW |
8 |
36599440 |
missense |
probably damaging |
0.96 |
|
R0164:Dlc1
|
UTSW |
8 |
36599440 |
missense |
probably damaging |
0.96 |
|
R0218:Dlc1
|
UTSW |
8 |
36850229 |
missense |
probably benign |
|
|
R0419:Dlc1
|
UTSW |
8 |
36583586 |
missense |
possibly damaging |
0.69 |
|
R0513:Dlc1
|
UTSW |
8 |
36584010 |
missense |
probably damaging |
1.00 |
|
R0645:Dlc1
|
UTSW |
8 |
36574049 |
missense |
possibly damaging |
0.60 |
|
R0646:Dlc1
|
UTSW |
8 |
36858051 |
missense |
probably benign |
|
|
R0727:Dlc1
|
UTSW |
8 |
36572674 |
missense |
probably damaging |
0.99 |
|
R0792:Dlc1
|
UTSW |
8 |
36938548 |
missense |
probably benign |
0.00 |
|
R1061:Dlc1
|
UTSW |
8 |
36858051 |
missense |
probably benign |
|
|
R1221:Dlc1
|
UTSW |
8 |
36584831 |
missense |
probably benign |
|
|
R1440:Dlc1
|
UTSW |
8 |
36593463 |
splice site |
probably benign |
|
|
R1501:Dlc1
|
UTSW |
8 |
36938148 |
missense |
probably benign |
0.06 |
|
R1606:Dlc1
|
UTSW |
8 |
36850252 |
missense |
probably benign |
|
|
R1707:Dlc1
|
UTSW |
8 |
36937609 |
missense |
probably benign |
0.03 |
|
R1750:Dlc1
|
UTSW |
8 |
36858090 |
splice site |
probably null |
|
|
R1762:Dlc1
|
UTSW |
8 |
36937585 |
missense |
probably benign |
0.25 |
|
R2041:Dlc1
|
UTSW |
8 |
36582768 |
missense |
probably damaging |
1.00 |
|
R2055:Dlc1
|
UTSW |
8 |
36593381 |
missense |
probably damaging |
0.98 |
|
R2091:Dlc1
|
UTSW |
8 |
36937609 |
missense |
probably benign |
0.00 |
|
R4285:Dlc1
|
UTSW |
8 |
36574128 |
missense |
possibly damaging |
0.49 |
|
R4294:Dlc1
|
UTSW |
8 |
36584753 |
missense |
possibly damaging |
0.47 |
|
R4631:Dlc1
|
UTSW |
8 |
36937558 |
critical splice donor site |
probably null |
|
|
R4828:Dlc1
|
UTSW |
8 |
36850246 |
missense |
possibly damaging |
0.69 |
|
R4867:Dlc1
|
UTSW |
8 |
36584645 |
missense |
probably benign |
0.01 |
|
R4902:Dlc1
|
UTSW |
8 |
36577131 |
missense |
probably damaging |
1.00 |
|
R5067:Dlc1
|
UTSW |
8 |
36584493 |
missense |
probably benign |
0.04 |
|
R5068:Dlc1
|
UTSW |
8 |
36938030 |
missense |
probably benign |
|
|
R5198:Dlc1
|
UTSW |
8 |
36938398 |
missense |
probably damaging |
1.00 |
|
R5471:Dlc1
|
UTSW |
8 |
36584725 |
missense |
probably benign |
0.26 |
|
R5668:Dlc1
|
UTSW |
8 |
36937501 |
unclassified |
probably benign |
|
|
R5915:Dlc1
|
UTSW |
8 |
36938675 |
utr 5 prime |
probably benign |
|
|
R6323:Dlc1
|
UTSW |
8 |
36938383 |
missense |
possibly damaging |
0.62 |
|
R6655:Dlc1
|
UTSW |
8 |
36572716 |
missense |
probably damaging |
1.00 |
|
R6908:Dlc1
|
UTSW |
8 |
36937687 |
missense |
probably benign |
0.02 |
|
R6914:Dlc1
|
UTSW |
8 |
36938210 |
missense |
probably benign |
|
|
R6942:Dlc1
|
UTSW |
8 |
36938210 |
missense |
probably benign |
|
|
R7269:Dlc1
|
UTSW |
8 |
36579253 |
missense |
probably damaging |
1.00 |
|
R7271:Dlc1
|
UTSW |
8 |
36582800 |
missense |
probably damaging |
0.99 |
|
R7462:Dlc1
|
UTSW |
8 |
36937964 |
missense |
unknown |
|
|
R7548:Dlc1
|
UTSW |
8 |
36584655 |
missense |
probably benign |
0.00 |
|
R7649:Dlc1
|
UTSW |
8 |
36582740 |
missense |
probably damaging |
1.00 |
|
R7924:Dlc1
|
UTSW |
8 |
36571416 |
missense |
probably benign |
0.03 |
|
R7960:Dlc1
|
UTSW |
8 |
36937835 |
missense |
probably benign |
|
|
R7984:Dlc1
|
UTSW |
8 |
36938318 |
missense |
possibly damaging |
0.85 |
|
R8227:Dlc1
|
UTSW |
8 |
36572671 |
missense |
probably damaging |
1.00 |
|
R8491:Dlc1
|
UTSW |
8 |
36584846 |
missense |
probably benign |
|
|
R8526:Dlc1
|
UTSW |
8 |
36937814 |
missense |
probably benign |
0.00 |
|
R8715:Dlc1
|
UTSW |
8 |
36938641 |
start gained |
probably benign |
|
|
R8887:Dlc1
|
UTSW |
8 |
36584327 |
missense |
probably benign |
0.34 |
|
R8972:Dlc1
|
UTSW |
8 |
36938240 |
nonsense |
probably null |
|
|
R8988:Dlc1
|
UTSW |
8 |
36572843 |
missense |
probably damaging |
0.96 |
|
R9031:Dlc1
|
UTSW |
8 |
36937901 |
missense |
possibly damaging |
0.95 |
|
R9080:Dlc1
|
UTSW |
8 |
36584852 |
missense |
probably benign |
|
|
R9092:Dlc1
|
UTSW |
8 |
36732706 |
missense |
probably benign |
0.03 |
|
R9096:Dlc1
|
UTSW |
8 |
36613567 |
missense |
probably benign |
0.00 |
|
R9097:Dlc1
|
UTSW |
8 |
36613567 |
missense |
probably benign |
0.00 |
|
R9166:Dlc1
|
UTSW |
8 |
36599435 |
missense |
probably damaging |
1.00 |
|
R9187:Dlc1
|
UTSW |
8 |
36938632 |
start codon destroyed |
probably null |
1.00 |
|
R9240:Dlc1
|
UTSW |
8 |
36584851 |
missense |
probably benign |
|
|
R9276:Dlc1
|
UTSW |
8 |
36579404 |
missense |
possibly damaging |
0.83 |
|
R9325:Dlc1
|
UTSW |
8 |
36571364 |
missense |
possibly damaging |
0.83 |
|
Z1176:Dlc1
|
UTSW |
8 |
36584211 |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCATAGCCACAGGAACGGAC -3'
(R):5'- CTGAGAACCCTGCTTTGCTC -3'
Sequencing Primer
(F):5'- TATAGGACAGCTCAGCCTGTTCG -3'
(R):5'- CCATGTCAGCCCTGTTGTGAATAC -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation