Incidental Mutation 'R8227:Dlc1'
| ID |
637025 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dlc1
|
| Ensembl Gene |
ENSMUSG00000031523 |
| Gene Name |
deleted in liver cancer 1 |
| Synonyms |
Arhgap7, A730069N07Rik, STARD12, p122-RhoGAP |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8227 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
36567751-36953143 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36572671 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 994
(L994S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033923
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033923]
[ENSMUST00000098826]
[ENSMUST00000163663]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033923
AA Change: L994S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000033923
Gene: ENSMUSG00000031523
AA Change: L994S
| 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 |
probably damaging
Transcript: ENSMUST00000098826
AA Change: L1028S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096425
Gene: ENSMUSG00000031523
AA Change: L1028S
| 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 |
probably damaging
Transcript: ENSMUST00000163663
AA Change: L1445S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132812
Gene: ENSMUSG00000031523
AA Change: L1445S
| 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: 99.9%
- 3x: 99.8%
- 10x: 99.3%
- 20x: 97.8%
|
| 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 |
|---|
| Acp7 |
C |
A |
7: 28,616,648 |
S171I |
probably damaging |
Het |
| Arhgap24 |
A |
G |
5: 102,875,781 |
E227G |
probably benign |
Het |
| Atp13a4 |
A |
G |
16: 29,403,845 |
V1087A |
|
Het |
| Csnk1g2 |
G |
A |
10: 80,638,629 |
|
probably null |
Het |
| Dusp13 |
A |
G |
14: 21,742,801 |
S19P |
probably benign |
Het |
| Foxr1 |
T |
C |
9: 44,436,007 |
S78G |
probably benign |
Het |
| Gm1968 |
T |
A |
16: 29,958,562 |
K93N |
noncoding transcript |
Het |
| Gm4781 |
G |
A |
10: 100,396,562 |
P171S |
noncoding transcript |
Het |
| Gm7276 |
T |
A |
18: 77,185,462 |
Q192L |
unknown |
Het |
| Greb1l |
T |
A |
18: 10,515,371 |
L721H |
probably damaging |
Het |
| Grm3 |
T |
C |
5: 9,570,242 |
D334G |
possibly damaging |
Het |
| Lama3 |
C |
T |
18: 12,407,551 |
A304V |
probably benign |
Het |
| Lamc1 |
G |
A |
1: 153,223,754 |
S1491L |
probably benign |
Het |
| Lepr |
T |
C |
4: 101,771,362 |
S555P |
probably damaging |
Het |
| Mup14 |
C |
T |
4: 61,302,495 |
E97K |
probably benign |
Het |
| Pdss2 |
A |
T |
10: 43,345,581 |
H163L |
probably damaging |
Het |
| Rps16 |
T |
A |
7: 28,352,501 |
D101E |
probably benign |
Het |
| Rpusd4 |
T |
C |
9: 35,268,535 |
V108A |
probably benign |
Het |
| Slc7a14 |
T |
C |
3: 31,209,212 |
K727R |
probably benign |
Het |
| Snx6 |
A |
T |
12: 54,751,971 |
F351I |
possibly damaging |
Het |
| Son |
CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC |
CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC |
16: 91,656,691 |
|
probably benign |
Het |
| Togaram2 |
T |
A |
17: 71,714,242 |
Y675* |
probably null |
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 |
|
R2987:Dlc1
|
UTSW |
8 |
36574152 |
missense |
probably damaging |
0.97 |
|
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 |
|
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'- CACTTGAAAAGGCGTTCCC -3'
(R):5'- AGGTCAACTATCGAAGTCCCC -3'
Sequencing Primer
(F):5'- TACCCAGTGAAGCACCCTGTTG -3'
(R):5'- ACTATCGAAGTCCCCGCTGC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation