Mutagenetix > Incidental Mutation

Incidental Mutation 'R1750:Dlc1'

193405

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

039782-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1750 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36567751-36953143 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 36858090 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000132812 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000036104

Predicted Effect

probably null
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 null
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 null
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 null
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

noncoding transcript
Transcript: ENSMUST00000178717

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.2%
20x: 91.9%

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: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402N03Rik	G	T	7: 131,146,130	N44K	probably benign	Het
Acd	C	A	8: 105,698,892	A270S	possibly damaging	Het
Acnat1	G	A	4: 49,451,042	T23I	probably benign	Het
Adam26a	T	G	8: 43,570,189	E88A	possibly damaging	Het
Adgrb1	G	A	15: 74,541,827	V589M	probably benign	Het
Agbl2	T	A	2: 90,816,376		probably benign	Het
Aif1	G	A	17: 35,172,151	P44L	probably benign	Het
Amh	AGCGCCTTGG	AG	10: 80,805,585		probably null	Het
Asap2	T	C	12: 21,203,998	L170P	probably damaging	Het
Btg2	T	C	1: 134,079,031	D8G	probably benign	Het
C530008M17Rik	A	G	5: 76,857,675	I628V	unknown	Het
Cacna1g	A	T	11: 94,443,292	V841E	probably damaging	Het
Cacna2d1	C	T	5: 16,264,288	P230L	probably benign	Het
Cacna2d2	A	T	9: 107,524,644	D766V	probably damaging	Het
Carns1	A	G	19: 4,173,157	W23R	possibly damaging	Het
Cdk11b	T	A	4: 155,628,680		probably null	Het
Chrna3	T	C	9: 55,016,057	S156G	probably damaging	Het
Cmya5	A	T	13: 93,095,663	N972K	probably benign	Het
Cpne7	C	A	8: 123,134,524	P541T	probably damaging	Het
Csmd1	A	T	8: 15,917,303	L3187I	probably damaging	Het
Dbt	A	G	3: 116,546,294	I404V	probably benign	Het
Dgki	A	T	6: 36,916,434	I819K	probably damaging	Het
Dip2b	T	A	15: 100,178,466	S782T	probably benign	Het
Dnajc13	A	T	9: 104,221,477	V459E	probably damaging	Het
Enam	A	G	5: 88,503,227	E790G	probably damaging	Het
Epb41l4a	G	C	18: 33,828,208	Y424*	probably null	Het
Extl1	A	G	4: 134,362,688	S370P	probably benign	Het
Fan1	T	C	7: 64,373,013	Y164C	probably benign	Het
Fbxw15	G	A	9: 109,558,246	S227F	probably damaging	Het
Fbxw25	A	T	9: 109,650,073	I370N	probably benign	Het
Fcgbp	T	A	7: 28,093,443	Y957*	probably null	Het
Gkap1	C	A	13: 58,237,043	E77*	probably null	Het
Gkn1	A	T	6: 87,349,123	N28K	unknown	Het
Gls2	A	G	10: 128,201,325	E245G	probably damaging	Het
Glyat	G	A	19: 12,646,315	V32I	probably benign	Het
Gm2431	A	T	7: 142,258,025	C47*	probably null	Het
Gm5431	T	C	11: 48,894,831	D239G	probably benign	Het
Gm9573	T	A	17: 35,621,048		probably benign	Het
Inpp5d	T	C	1: 87,699,081	F540L	probably damaging	Het
Kcna1	A	C	6: 126,642,808	I183S	probably benign	Het
Kpna2	G	T	11: 106,991,445	L212I	probably damaging	Het
Krt36	C	G	11: 100,104,058	R229S	probably benign	Het
Krt78	G	A	15: 101,946,377	H1000Y	probably benign	Het
Krt90	A	G	15: 101,553,365		probably benign	Het
Ldlrad4	C	A	18: 68,106,687	F59L	probably benign	Het
Lrrc3b	T	C	14: 15,358,601	N2D	probably benign	Het
Madd	T	C	2: 91,167,891	D239G	probably damaging	Het
Mapk8ip3	C	T	17: 24,914,459	G332S	probably null	Het
Mastl	A	T	2: 23,146,081	L141*	probably null	Het
Mdh1b	T	C	1: 63,719,522	N304D	probably benign	Het
Mfsd4b3	G	T	10: 39,947,933	N110K	probably benign	Het
Mtus2	T	C	5: 148,277,633	S1035P	probably damaging	Het
Myh11	T	A	16: 14,200,758	D1908V	probably damaging	Het
Myh11	T	C	16: 14,215,790	E1080G	probably damaging	Het
Mypn	A	C	10: 63,136,197	M688R	probably benign	Het
Nat8l	G	T	5: 34,000,786	C180F	probably damaging	Het
Nip7	T	A	8: 107,057,386	L86Q	probably damaging	Het
Nisch	C	T	14: 31,174,882		probably benign	Het
Nop2	A	G	6: 125,137,638	I283V	probably benign	Het
Oas1h	T	A	5: 120,871,777		probably null	Het
Olfr1118	T	C	2: 87,308,852	V41A	probably benign	Het
Olfr1141	T	A	2: 87,753,186	D269V	probably damaging	Het
Olfr117	A	C	17: 37,659,673	I220S	probably damaging	Het
Olfr1188	C	A	2: 88,560,058	D185E	possibly damaging	Het
Olfr1199	T	C	2: 88,755,773	R301G	probably benign	Het
Olfr504	A	T	7: 108,565,357	L146*	probably null	Het
Olfr901	T	A	9: 38,430,690	M136K	probably damaging	Het
P4hb	A	G	11: 120,562,720	V373A	probably damaging	Het
Pappa2	C	A	1: 158,763,150	E1645*	probably null	Het
Pcdh10	G	T	3: 45,381,881	E877*	probably null	Het
Pcdhb17	C	T	18: 37,485,711	R185C	probably damaging	Het
Pcdhb17	A	G	18: 37,487,017	H620R	possibly damaging	Het
Pdcl3	T	A	1: 38,995,865	F168I	probably damaging	Het
Pde4a	T	A	9: 21,203,232	I365N	probably damaging	Het
Pdzd2	A	G	15: 12,385,864	V940A	probably damaging	Het
Picalm	T	A	7: 90,191,182	S399T	possibly damaging	Het
Pigk	A	T	3: 152,744,464	I249F	probably damaging	Het
Plxnb1	C	A	9: 109,111,768	H1570Q	probably benign	Het
Plxnc1	A	G	10: 94,799,497	Y1321H	probably damaging	Het
Ppm1g	G	A	5: 31,206,216	S114F	probably damaging	Het
Rassf4	A	G	6: 116,640,267	M259T	probably damaging	Het
Rbm47	T	C	5: 66,019,310	K557E	possibly damaging	Het
Rhobtb1	A	G	10: 69,279,406	K21R	probably damaging	Het
Selenoi	T	C	5: 30,257,773	F212S	probably benign	Het
Shc3	T	G	13: 51,449,292	Y259S	probably damaging	Het
Slc11a2	T	C	15: 100,401,287	N134S	probably damaging	Het
Slc9a7	A	T	X: 20,162,478	M368K	probably damaging	Het
Slx4ip	T	A	2: 137,046,749	C117S	probably damaging	Het
Spata31d1d	T	A	13: 59,728,695	Q342L	probably benign	Het
Spink13	T	A	18: 62,607,749	Y93F	probably damaging	Het
St6galnac5	A	T	3: 152,846,321	I203N	possibly damaging	Het
Syne2	T	A	12: 76,052,805	C5335S	probably damaging	Het
Tagap	T	A	17: 7,929,910	D173E	probably benign	Het
Tekt3	A	C	11: 63,070,041	Y12S	probably damaging	Het
Tmem81	T	A	1: 132,507,583	N42K	probably damaging	Het
Tnc	A	G	4: 63,972,735	W1728R	probably damaging	Het
Ttc30a1	C	T	2: 75,980,255	V495I	probably benign	Het
Ttc33	C	T	15: 5,212,098	R135*	probably null	Het
Ttc37	T	A	13: 76,140,601	L951Q	possibly damaging	Het
Unc5c	A	G	3: 141,827,517	D842G	possibly damaging	Het
Usp43	A	T	11: 67,879,953	H618Q	probably damaging	Het
Vmn2r50	T	G	7: 10,052,988	N64T	possibly damaging	Het
Vmn2r53	T	C	7: 12,581,705	Y729C	probably damaging	Het
Vmn2r59	T	A	7: 42,045,827	H387L	possibly damaging	Het
Vstm2a	G	T	11: 16,263,166	V184F	possibly damaging	Het
Wdr53	T	G	16: 32,252,117	N93K	probably damaging	Het
Wdr95	A	G	5: 149,581,886		probably null	Het
Xpot	A	T	10: 121,603,027		probably null	Het
Xrcc5	C	T	1: 72,325,087	Q233*	probably null	Het
Zbtb18	T	A	1: 177,447,511	C137S	possibly damaging	Het
Zfp58	C	A	13: 67,491,479	G298*	probably null	Het
Zfp963	A	G	8: 69,743,450	S118P	possibly damaging	Het
Zmynd15	A	T	11: 70,462,567	Q336L	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
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

Posted On

2014-05-23