Mutagenetix > Incidental Mutation

Incidental Mutation 'R4631:Dlc1'

349195

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

041896-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4631 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36567751-36953143 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to C at 36937558 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000132812 (fasta)

Gene Model

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

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

noncoding transcript
Transcript: ENSMUST00000178717

Predicted Effect

probably benign
Transcript: ENSMUST00000179501

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000179652

Meta Mutation Damage Score

0.9568

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

100% (84/84)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	T	9: 57,257,987	L368Q	probably damaging	Het
Abcc2	C	T	19: 43,814,707	P661S	possibly damaging	Het
Adgre4	T	G	17: 55,814,305	M457R	probably null	Het
Ank	C	A	15: 27,467,090	F29L	probably benign	Het
Arhgap20	T	C	9: 51,840,353		probably benign	Het
Atf6	T	C	1: 170,747,197		probably null	Het
Bod1l	A	G	5: 41,817,735	F2079L	probably damaging	Het
Cd163	T	C	6: 124,329,086	*1122Q	probably null	Het
Ces2g	T	C	8: 104,967,462		probably null	Het
Cntnap3	A	G	13: 64,778,883	Y558H	probably benign	Het
Ctsm	T	A	13: 61,537,696	S301C	probably null	Het
Dlg2	A	T	7: 92,088,614	I435F	probably damaging	Het
Dnah5	T	C	15: 28,401,953	V3420A	probably damaging	Het
Dnah5	T	A	15: 28,419,994	Y3813N	probably damaging	Het
Dnajc13	A	G	9: 104,190,417	M1181T	probably damaging	Het
Drc3	C	A	11: 60,364,908	T107N	probably benign	Het
Dydc2	T	C	14: 41,049,329	E131G	probably benign	Het
Eif5b	T	C	1: 38,041,747	V723A	probably damaging	Het
Fndc9	C	A	11: 46,237,848	H65N	possibly damaging	Het
Fzd1	A	T	5: 4,755,865	Y572*	probably null	Het
Gm1966	A	G	7: 106,599,523		noncoding transcript	Het
Gm38394	A	T	1: 133,658,744	V285E	probably damaging	Het
Gm5096	G	A	18: 87,756,401	R16H	probably damaging	Het
Gps1	T	A	11: 120,788,239		probably null	Het
Kazn	G	A	4: 142,118,160		probably benign	Het
Kcnd3	C	T	3: 105,658,766	A421V	probably damaging	Het
Kcnip1	T	A	11: 33,992,821		noncoding transcript	Het
Kif19a	A	G	11: 114,784,847	I382V	possibly damaging	Het
Krt1	C	T	15: 101,846,187	G543S	unknown	Het
Malsu1	A	T	6: 49,084,533	E177V	probably damaging	Het
Man2a2	A	G	7: 80,362,463	F649L	probably benign	Het
Map3k11	A	G	19: 5,690,913	I223V	probably benign	Het
Mroh2a	A	G	1: 88,258,664	S64G	probably benign	Het
Myh9	T	G	15: 77,797,028	D164A	probably damaging	Het
Myo16	T	C	8: 10,506,984	I1040T	probably damaging	Het
Myo18b	C	T	5: 112,846,400	A896T	probably damaging	Het
Myocd	G	T	11: 65,178,859	N798K	probably benign	Het
Olfr1206	C	T	2: 88,864,830	T75I	probably benign	Het
Olfr1288	T	A	2: 111,479,563	W260R	probably damaging	Het
Olfr1458	T	A	19: 13,103,272	I11F	probably benign	Het
Olfr156	T	C	4: 43,820,563	D266G	probably benign	Het
Olfr168	G	A	16: 19,530,141	R260*	probably null	Het
Olfr353	T	G	2: 36,890,618	T77P	probably benign	Het
Olfr68	A	T	7: 103,777,475	L290Q	probably damaging	Het
Pcdh18	T	A	3: 49,756,441	I142F	probably damaging	Het
Pcyox1	T	C	6: 86,389,143	D363G	probably benign	Het
Pcyox1	T	C	6: 86,389,230	E334G	possibly damaging	Het
Pgm1	A	G	5: 64,105,947		probably null	Het
Plagl1	T	G	10: 13,127,999		probably benign	Het
Ppp1r9a	A	G	6: 4,906,537	D364G	possibly damaging	Het
Rab2b	T	A	14: 52,266,242	H141L	possibly damaging	Het
Rev3l	A	G	10: 39,828,416	K279E	probably benign	Het
Rnf111	G	T	9: 70,450,396	T607N	probably benign	Het
Scn8a	C	A	15: 101,016,503	S1130*	probably null	Het
Selenbp1	A	G	3: 94,944,568	*473W	probably null	Het
Sh3bp4	A	C	1: 89,144,273	D281A	probably damaging	Het
Skint5	T	A	4: 113,629,117		probably null	Het
Slc1a4	A	G	11: 20,308,452	L249P	probably damaging	Het
Slc45a2	T	A	15: 11,012,576	S222T	probably benign	Het
Slc7a4	A	G	16: 17,574,391	F393S	probably damaging	Het
Slc9a2	A	T	1: 40,761,918	D536V	possibly damaging	Het
Stra6	T	A	9: 58,140,832		probably benign	Het
Tmem145	A	G	7: 25,307,825	D156G	probably benign	Het
Tns3	A	C	11: 8,451,119	F1060V	probably benign	Het
Trak1	G	A	9: 121,454,425	R419Q	probably benign	Het
Trappc8	A	G	18: 20,867,808	S273P	probably benign	Het
Trmt11	A	G	10: 30,559,204	S320P	probably benign	Het
Ugt1a6a	A	T	1: 88,139,258	Y262F	probably benign	Het
Vmn1r73	G	A	7: 11,756,831	C192Y	probably benign	Het
Vmn2r103	T	C	17: 19,793,696	I250T	probably benign	Het
Vmn2r25	T	A	6: 123,853,003	D63V	possibly damaging	Het
Vps13b	C	T	15: 35,646,132	H1461Y	possibly damaging	Het
Ythdc2	A	T	18: 44,887,631	E1427D	probably benign	Het
Zbtb26	A	G	2: 37,436,956	F23L	probably benign	Het
Zfp62	T	A	11: 49,217,805	*908R	probably null	Het
Zfp975	A	T	7: 42,662,945	N81K	probably benign	Het
Zkscan16	G	A	4: 58,951,918	V198M	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
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
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'- TCATGGTTTTATCAAGTGAGCG -3'
(R):5'- CTTATGTAGACAGAGGGCTGCC -3'

Sequencing Primer
(F):5'- GTGAGCGTTTTTCAATTTTACTAGC -3'
(R):5'- GGGCTGCCATTATTAAAAGCAGATTG -3'

Posted On

2015-10-08