Mutagenetix > Incidental Mutation

Incidental Mutation 'R0727:Dlc1'

200646

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

038909-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0727 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36567751-36953143 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36572674 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1027 (V1027A)

Ref Sequence

ENSEMBL: ENSMUSP00000096425 (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: V993A

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000033923
Gene: ENSMUSG00000031523
AA Change: V993A

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: V1027A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000096425
Gene: ENSMUSG00000031523
AA Change: V1027A

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: V1444A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000132812
Gene: ENSMUSG00000031523
AA Change: V1444A

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

0.6505

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.1%

Validation Efficiency

99% (70/71)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024P04Rik	A	G	13: 98,984,227	V97A	probably benign	Het
2810474O19Rik	A	G	6: 149,325,822	N122S	possibly damaging	Het
Actr3b	T	C	5: 25,811,939	V83A	possibly damaging	Het
Adam2	A	G	14: 66,029,731	I693T	probably damaging	Het
Adamts1	T	C	16: 85,798,648	D214G	possibly damaging	Het
Atp6v1h	T	A	1: 5,084,558	Y36*	probably null	Het
Cacna1d	A	G	14: 30,130,115		probably null	Het
Catsperb	G	T	12: 101,594,355		probably null	Het
Ccdc88b	T	C	19: 6,854,214	M482V	probably benign	Het
Cemip	T	C	7: 83,961,578	K723E	probably benign	Het
Cep112	G	A	11: 108,506,554	R375H	probably damaging	Het
Cpne7	T	C	8: 123,126,286	S211P	probably damaging	Het
Csde1	A	G	3: 103,043,638	T191A	probably benign	Het
Dapk3	A	G	10: 81,190,262	Y129C	probably damaging	Het
Ergic2	T	A	6: 148,199,400		probably benign	Het
Evpl	T	C	11: 116,232,485	H307R	probably damaging	Het
Faah	A	G	4: 116,005,060	I242T	probably damaging	Het
Farsa	T	A	8: 84,861,304		probably null	Het
Fat3	A	C	9: 15,996,699	L2669R	probably damaging	Het
Fgfr4	C	A	13: 55,156,228		probably null	Het
Gnl3	A	G	14: 31,017,077	S55P	probably damaging	Het
Grhl3	T	A	4: 135,546,254	K562N	possibly damaging	Het
Hoxa9	A	G	6: 52,224,314	V249A	probably damaging	Het
Hyal1	T	C	9: 107,578,402	S304P	possibly damaging	Het
Igf1r	T	C	7: 68,212,158		probably null	Het
Kif3c	A	G	12: 3,366,776	T266A	probably benign	Het
Lrp1b	T	C	2: 40,750,944	D3496G	probably benign	Het
Man2b1	T	G	8: 85,091,526	V442G	probably damaging	Het
Mast1	T	C	8: 84,921,415	Y479C	probably damaging	Het
Mei1	A	G	15: 82,070,149	T52A	probably benign	Het
Micall1	A	G	15: 79,120,778	D150G	probably benign	Het
Muc4	A	G	16: 32,769,847	M2927V	probably benign	Het
Olfr1065	T	C	2: 86,445,938	M15V	probably benign	Het
Olfr1082	A	T	2: 86,594,380	Y149*	probably null	Het
Olfr1436	T	C	19: 12,299,094	I13V	probably benign	Het
Olfr153	T	A	2: 87,532,901	Y289*	probably null	Het
Olfr504	C	T	7: 108,565,108	R229H	probably benign	Het
Olfr745	G	T	14: 50,643,003	V241L	probably damaging	Het
Pabpc2	A	C	18: 39,775,134	Q484P	probably benign	Het
Pbld2	T	A	10: 63,067,519	V125D	probably benign	Het
Pkhd1l1	A	G	15: 44,535,788	T2083A	possibly damaging	Het
Pum2	A	G	12: 8,744,465	E785G	probably damaging	Het
Qser1	A	G	2: 104,777,311		probably benign	Het
R3hcc1l	A	G	19: 42,576,075	D29G	probably damaging	Het
Rabep1	T	A	11: 70,900,492	Y180*	probably null	Het
Rassf5	T	C	1: 131,181,265	S140G	probably damaging	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,651,666		probably benign	Het
Rfpl4	T	A	7: 5,115,293	I93L	probably benign	Het
Rnf219	G	C	14: 104,480,188	L250V	probably damaging	Het
Ryr2	C	T	13: 11,566,885	G4798D	probably damaging	Het
Scaf11	G	A	15: 96,419,443	P747S	probably damaging	Het
Sgo2b	T	G	8: 63,927,782	K672T	probably damaging	Het
Smg1	T	C	7: 118,166,422		probably benign	Het
Sned1	G	A	1: 93,281,654	V830M	possibly damaging	Het
Ssh3	G	T	19: 4,263,991	H439Q	probably damaging	Het
Steap3	T	A	1: 120,227,817	T471S	possibly damaging	Het
Stk33	T	A	7: 109,321,518	I208L	probably damaging	Het
Sucnr1	A	G	3: 60,086,660	Y203C	probably benign	Het
Tlr11	T	C	14: 50,361,469	I304T	possibly damaging	Het
Top2a	A	T	11: 99,012,148	C404*	probably null	Het
Trim43a	G	A	9: 88,582,146	E37K	probably benign	Het
Zcwpw1	T	C	5: 137,810,807		probably benign	Het
Zfhx4	A	T	3: 5,401,073	H2097L	probably damaging	Het
Zfp874b	T	C	13: 67,474,712	K156E	probably damaging	Het
Zfyve16	T	C	13: 92,493,878	K1413E	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
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
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'- ACAGTCACTTGAAAAGGCGTTCCC -3'
(R):5'- TGGAGGTCAACTATCGAAGTCCCC -3'

Sequencing Primer
(F):5'- AAAAGGCGTTCCCTTTCTGAG -3'
(R):5'- TATCGAAGTCCCCGCTGC -3'

Posted On

2014-05-23