Mutagenetix > Incidental Mutation

Incidental Mutation 'R5198:Dlc1'

400483

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

042774-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5198 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36567751-36953143 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 36938398 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 79 (G79D)

Ref Sequence

ENSEMBL: ENSMUSP00000132812 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000036104

Predicted Effect

probably damaging
Transcript: ENSMUST00000163663
AA Change: G79D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000132812
Gene: ENSMUSG00000031523
AA Change: G79D

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

0.1660

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

98% (54/55)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931423N10Rik	G	A	2: 23,212,461	C121Y	probably damaging	Het
Abcc9	A	G	6: 142,626,000	V1121A	probably benign	Het
Adamtsl3	A	C	7: 82,611,798	K1647Q	possibly damaging	Het
Adgrb1	A	T	15: 74,543,701	Q710L	probably null	Het
Alox12	T	C	11: 70,254,417	E110G	probably damaging	Het
Cep152	T	A	2: 125,587,624	M738L	probably benign	Het
Cma2	T	C	14: 55,972,075	V38A	probably benign	Het
Dmpk	C	G	7: 19,088,019	L301V	probably benign	Het
Dus3l	A	G	17: 56,769,574	I585V	probably benign	Het
Etl4	A	G	2: 20,713,387	Y313C	probably damaging	Het
Fbxw15	C	A	9: 109,558,174	S251I	probably benign	Het
Gata4	G	A	14: 63,200,451	S417L	probably benign	Het
Gdpd5	T	A	7: 99,438,308	Y60N	probably damaging	Het
Gm17669	T	C	18: 67,562,556	M57T	probably benign	Het
Gpr39	A	T	1: 125,677,436	I34F	probably benign	Het
Iffo2	T	A	4: 139,575,217	D90E	probably benign	Het
Il17c	A	G	8: 122,422,369	D84G	possibly damaging	Het
Itih3	T	C	14: 30,912,649	T134A	probably benign	Het
Lama2	G	A	10: 27,347,003	A429V	probably damaging	Het
Muc6	G	T	7: 141,638,772	T1996N	possibly damaging	Het
Mug1	G	A	6: 121,874,562	R806H	probably damaging	Het
Naaa	G	A	5: 92,268,045	R65*	probably null	Het
Nacc2	C	T	2: 26,060,334	M463I	probably benign	Het
Nemf	A	G	12: 69,356,047	S72P	probably damaging	Het
Nudt7	G	A	8: 114,135,445		probably null	Het
Olfr1272	T	C	2: 90,296,393	Q156R	probably damaging	Het
Olfr625-ps1	T	C	7: 103,682,729	S4P	probably benign	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pacs1	T	C	19: 5,139,297	D757G	probably benign	Het
Pkd2	A	C	5: 104,483,092	I461L	probably benign	Het
Pramel5	T	G	4: 144,273,494		probably benign	Het
Ptgdr	G	C	14: 44,858,843	F137L	probably damaging	Het
Pum1	T	A	4: 130,779,879	C1085*	probably null	Het
Rfx3	T	C	19: 27,830,776	D189G	probably damaging	Het
Rlf	T	A	4: 121,148,553	K1077*	probably null	Het
Slc25a30	C	A	14: 75,769,616	D147Y	probably benign	Het
Smap2	T	C	4: 121,016,787	E22G	possibly damaging	Het
Szt2	T	C	4: 118,388,322	T1098A	probably benign	Het
Tbcc	T	C	17: 46,890,862	F58S	probably damaging	Het
Tekt3	G	A	11: 63,070,308	R101H	probably damaging	Het
Vcan	T	A	13: 89,690,872	E2184D	probably damaging	Het
Vkorc1	T	C	7: 127,894,588	E18G	probably benign	Het
Vmn1r68	T	C	7: 10,527,796	H125R	probably benign	Het
Vmn2r63	C	A	7: 42,903,745	V696L	probably benign	Het
Wdr59	G	A	8: 111,481,988	H421Y	probably benign	Het
Xkr7	T	C	2: 153,054,953	Y576H	probably damaging	Het
Zfp112	T	C	7: 24,124,856	V83A	possibly damaging	Het
Zfp616	G	A	11: 74,083,510	V293I	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
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
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'- TCTTCATGAAGGAGCCTGCTC -3'
(R):5'- CAGACCGAACAGCCTTTTATTTC -3'

Sequencing Primer
(F):5'- GAGCCTGCTCCTTTGACAC -3'
(R):5'- CCGAACAGCCTTTTATTTCTGATGAG -3'

Posted On

2016-07-06