Mutagenetix > Incidental Mutation

Incidental Mutation 'R8715:Dlc1'

669821

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) question?

Stock #

R8715 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36567751-36953143 bp(-) (GRCm38)

Type of Mutation

start gained

DNA Base Change (assembly)

T to A at 36938641 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000137498 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000163663] [ENSMUST00000179501]

AlphaFold

no structure available at present

Predicted Effect

probably benign
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 benign
Transcript: ENSMUST00000179501

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (50/50)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810041L15Rik	A	C	15: 84,417,145	V99G	probably damaging	Het
Abcb1b	A	T	5: 8,812,750	H144L	probably benign	Het
Adam25	A	G	8: 40,754,062	N122D	probably benign	Het
Armc10	T	C	5: 21,653,518	F187S	possibly damaging	Het
Best3	T	A	10: 116,993,066	F84I	probably damaging	Het
Card11	A	T	5: 140,885,560	D729E	probably benign	Het
Ccdc60	A	T	5: 116,190,094	F104I	probably benign	Het
Ccdc88b	T	C	19: 6,855,845	E278G	probably damaging	Het
Cd209d	CAT	C	8: 3,873,772		probably null	Het
Cdhr4	G	A	9: 107,997,397	V9M		Het
Cfap46	T	C	7: 139,605,644	T41A		Het
Cyp2c66	A	G	19: 39,170,944	T280A	probably benign	Het
Dis3l	C	T	9: 64,307,060	D1049N	probably benign	Het
Faap100	T	C	11: 120,374,473	T526A	probably benign	Het
Fam214b	A	G	4: 43,033,944	V444A	possibly damaging	Het
Gimap6	A	T	6: 48,702,618	D161E	probably damaging	Het
Gmpr	T	C	13: 45,542,626	V282A	possibly damaging	Het
Gsap	A	G	5: 21,226,247	I190V	possibly damaging	Het
Gucy2d	C	T	7: 98,444,112	T232I	probably benign	Het
Lgals4	C	T	7: 28,841,496	R282C	probably damaging	Het
Lrp1	C	A	10: 127,560,621	S2358I	possibly damaging	Het
Lrrc74a	A	G	12: 86,758,465	N354D	probably damaging	Het
Mdga2	T	C	12: 66,868,752	E112G	probably damaging	Het
Msh6	C	T	17: 87,985,767	T650I	probably benign	Het
Mst1	T	C	9: 108,082,043	V203A	possibly damaging	Het
Muc1	G	A	3: 89,231,514	V477M	possibly damaging	Het
Naa11	A	G	5: 97,392,207	Y31H	probably damaging	Het
Nphp1	G	T	2: 127,763,809	H365Q	possibly damaging	Het
Olfr1025-ps1	G	A	2: 85,917,929	M1I	probably null	Het
Olfr1390	A	T	11: 49,341,327	Y265F	probably damaging	Het
Olfr409-ps1	T	A	11: 74,317,160	I45N	probably damaging	Het
Osbpl9	A	G	4: 109,102,576	F15S	probably benign	Het
Pcdha12	A	C	18: 37,020,470	N81H	probably damaging	Het
Pde4d	A	G	13: 109,935,342	Q290R	probably benign	Het
Pla1a	A	T	16: 38,409,638	N237K	probably damaging	Het
Podnl1	T	C	8: 84,129,327	Y239H		Het
Pou4f3	G	T	18: 42,395,528	D179Y	possibly damaging	Het
Ptch2	T	C	4: 117,111,522	V995A	probably damaging	Het
Ptprt	C	T	2: 161,530,543	C1403Y	probably damaging	Het
Rab7	T	C	6: 88,012,387	S34G	probably damaging	Het
Rspry1	A	G	8: 94,623,260	E92G	probably damaging	Het
Sdccag8	T	A	1: 176,946,237		probably benign	Het
Sdk2	G	A	11: 113,780,902	T2140M	probably damaging	Het
Serpina1e	T	C	12: 103,950,918	N164S	probably benign	Het
Tdrkh	T	C	3: 94,424,661	V131A	probably damaging	Het
Tm9sf3	T	A	19: 41,256,285	N51I	probably damaging	Het
Trav4-3	A	G	14: 53,599,305	N76D	possibly damaging	Het
Trhr2	T	A	8: 122,358,880	I122F	probably damaging	Het
Tyw1	G	A	5: 130,269,224	R202Q	probably damaging	Het
Vmn2r99	A	T	17: 19,393,660		probably benign	Het
Zfp663	T	C	2: 165,352,724	E525G	probably damaging	Het
Zfp976	C	T	7: 42,613,445	E324K	possibly damaging	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
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
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'- CTTGTCTCTGACCCACAACAGC -3'
(R):5'- CACAGATTAGATCCTTTGCCATG -3'

Sequencing Primer
(F):5'- AGAGAGGCACACTTCTCTTTATGGTC -3'
(R):5'- GGCAGATCACACTCTCTT -3'

Posted On

2021-04-30