Mutagenetix > Incidental Mutation

Incidental Mutation 'R2055:Dlc1'

226594

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

040060-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2055 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36567751-36953143 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36593381 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 514 (C514S)

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: C63S

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000033923
Gene: ENSMUSG00000031523
AA Change: C63S

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: C97S

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000096425
Gene: ENSMUSG00000031523
AA Change: C97S

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: ENSMUST00000145245

Predicted Effect

probably damaging
Transcript: ENSMUST00000163663
AA Change: C514S

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000132812
Gene: ENSMUSG00000031523
AA Change: C514S

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

Meta Mutation Damage Score

0.5708

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (74/74)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	T	C	5: 138,562,845	E185G	probably damaging	Het
3425401B19Rik	A	G	14: 32,662,551	S486P	probably benign	Het
4931408C20Rik	A	T	1: 26,685,732	N122K	possibly damaging	Het
A630023A22Rik	T	C	14: 34,052,750		probably benign	Het
Abca1	T	C	4: 53,069,881	N1271S	probably benign	Het
AI597479	C	T	1: 43,111,120	A130V	probably benign	Het
Angptl4	A	G	17: 33,780,524		probably null	Het
Arhgef25	T	A	10: 127,185,135	N294I	probably damaging	Het
Atp2b1	T	C	10: 99,014,559	V848A	probably damaging	Het
Bard1	T	C	1: 71,074,872	T317A	probably benign	Het
C1rl	T	C	6: 124,493,822	W30R	probably benign	Het
Cchcr1	A	G	17: 35,526,420	E379G	probably damaging	Het
Cfap36	G	T	11: 29,247,122	A3E	probably damaging	Het
Cilp	G	A	9: 65,279,715	G1031S	probably damaging	Het
Clca4a	A	G	3: 144,970,728	Y64H	probably damaging	Het
Cops5	A	G	1: 10,032,337		probably null	Het
Cracr2a	G	T	6: 127,608,601	E121*	probably null	Het
Cstf1	A	G	2: 172,380,483	E387G	probably benign	Het
D630044L22Rik	A	C	17: 25,961,977	D733E	probably damaging	Het
Dmwd	G	T	7: 19,076,685	R139L	probably benign	Het
Dnah17	A	T	11: 118,067,531	S2709T	probably benign	Het
Dnmt3a	T	C	12: 3,872,859	I154T	probably benign	Het
Dpp7	T	C	2: 25,354,478	N297S	possibly damaging	Het
Ern2	A	T	7: 122,183,945	V34D	possibly damaging	Het
Erp27	A	G	6: 136,908,229		probably benign	Het
F2	T	C	2: 91,628,442	T508A	probably benign	Het
Fam181b	A	G	7: 93,080,426	T136A	probably benign	Het
Fam227b	C	A	2: 126,100,954	V308L	probably benign	Het
Fbxw20	A	T	9: 109,221,374	H394Q	probably damaging	Het
G530012D18Rik	CAGAGAGA	CAGAGAGAGA	1: 85,577,224		probably null	Het
Glt8d1	T	G	14: 31,009,736	S111A	probably benign	Het
Gm11146	A	T	16: 77,595,081		probably benign	Het
Gm5724	A	T	6: 141,725,455	H430Q	probably benign	Het
Grip1	C	T	10: 120,049,511		probably benign	Het
H2-Q2	A	T	17: 35,345,271	T334S	probably benign	Het
Hcrtr1	A	G	4: 130,130,887	V402A	probably benign	Het
Hmcn2	C	A	2: 31,378,282	A1130D	probably benign	Het
Hsd17b2	T	C	8: 117,702,174	L60P	possibly damaging	Het
Htr1f	A	T	16: 64,926,035	I298N	probably damaging	Het
Ighmbp2	G	T	19: 3,265,095	A775D	probably benign	Het
Kcnn3	A	G	3: 89,521,375	T303A	probably damaging	Het
Kiz	C	A	2: 146,891,283	Q460K	probably benign	Het
Krt75	C	T	15: 101,572,761	V193I	probably benign	Het
Lsp1	G	A	7: 142,489,407		probably null	Het
Mfsd12	A	G	10: 81,360,229	H146R	probably damaging	Het
Mmp23	T	C	4: 155,651,987	K199R	possibly damaging	Het
Naip2	A	G	13: 100,179,372	V300A	probably benign	Het
Nbeal1	C	T	1: 60,311,057	L2422F	probably damaging	Het
Nbeal2	G	T	9: 110,635,307	D1094E	possibly damaging	Het
Nckap5	T	C	1: 126,026,898	E639G	probably damaging	Het
Nr4a3	A	G	4: 48,067,771	I456V	possibly damaging	Het
Olfr224	A	G	11: 58,566,847	F166S	probably damaging	Het
Parp9	G	T	16: 35,953,614	V86L	probably damaging	Het
Phactr1	A	G	13: 43,077,940	N386S	probably damaging	Het
Pold2	A	T	11: 5,873,516	Y304*	probably null	Het
Pou5f2	A	G	13: 78,025,821	Y294C	probably benign	Het
Rars	A	G	11: 35,826,583		probably benign	Het
Rbm12b1	A	G	4: 12,145,606	E526G	probably benign	Het
Sacs	T	C	14: 61,214,049	Y4515H	probably damaging	Het
Sdk2	C	A	11: 113,850,954	R813L	probably damaging	Het
Six5	T	C	7: 19,095,229	V198A	possibly damaging	Het
Spn	A	G	7: 127,137,216	S40P	probably damaging	Het
Ssr1	A	G	13: 37,987,785		probably benign	Het
Tlr6	C	A	5: 64,953,926	C546F	probably damaging	Het
Top1	T	A	2: 160,702,828		probably benign	Het
Trhr2	A	G	8: 122,358,793	S151P	probably damaging	Het
Tubb2b	T	G	13: 34,127,725	K362Q	probably benign	Het
Unc13c	T	C	9: 73,736,550	T1211A	probably damaging	Het
Vmn1r15	T	C	6: 57,258,744	V199A	possibly damaging	Het
Vnn1	A	G	10: 23,900,577		probably benign	Het
Vps41	T	A	13: 18,854,616	N737K	possibly damaging	Het
Vps50	T	A	6: 3,522,265	N144K	probably benign	Het
Zc3h7a	A	T	16: 11,137,476	N911K	probably benign	Het
Zkscan7	T	A	9: 122,888,937	S132R	probably 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
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
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'- CAGCAGCATCAATCACTGTGTC -3'
(R):5'- AAACGTGGGCCACAGATACTC -3'

Sequencing Primer
(F):5'- GCAGCATCAATCACTGTGTCATTTG -3'
(R):5'- TCAGCATCTTGCCAGAAGAGTC -3'

Posted On

2014-09-17