Mutagenetix > Incidental Mutation

Incidental Mutation 'R9031:Dlc1'

687061

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9031 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36567751-36953143 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36937901 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 245 (S245P)

Ref Sequence

ENSEMBL: ENSMUSP00000132812 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000163663
AA Change: S245P

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000132812
Gene: ENSMUSG00000031523
AA Change: S245P

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 benign
Transcript: ENSMUST00000179501

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (81/81)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	G	A	19: 43,822,027	R921H	probably benign	Het
Adcy5	A	G	16: 35,299,489	I1123V	probably damaging	Het
Agr2	G	C	12: 35,995,566	G17A	probably benign	Het
Akap6	A	T	12: 53,142,048	T2082S	probably benign	Het
Asxl3	G	T	18: 22,524,344	V1804F	probably damaging	Het
Atat1	A	G	17: 35,909,489	V37A	probably benign	Het
Atp1a3	A	T	7: 24,989,787		probably null	Het
Bpifb1	A	G	2: 154,209,928	T218A	probably benign	Het
C030006K11Rik	T	A	15: 76,723,761	Q19L	probably benign	Het
Ccdc138	T	C	10: 58,545,071	F508S	probably damaging	Het
Ccdc81	T	A	7: 89,893,150	M173L	probably benign	Het
Cdhr1	T	C	14: 37,094,019	I141V	probably benign	Het
Chia1	T	C	3: 106,128,461	F206L	probably benign	Het
Clca3a2	C	T	3: 144,805,714	G640E	probably damaging	Het
Clcn7	T	C	17: 25,157,523	V609A	probably damaging	Het
Col22a1	C	A	15: 71,881,674	G126*	probably null	Het
Cpne7	C	T	8: 123,130,212	P402L	probably damaging	Het
Ctcfl	A	T	2: 173,117,251	D227E	probably benign	Het
Cwf19l2	A	G	9: 3,417,942	D134G	probably benign	Het
Cyp2c65	C	A	19: 39,073,219	C216*	probably null	Het
Cyp2d12	T	A	15: 82,559,222	C462S	probably null	Het
Cyp4a12a	A	C	4: 115,332,002	*509Y	probably null	Het
Cyp4a12b	A	G	4: 115,433,668	M298V	probably benign	Het
Dennd4b	T	C	3: 90,270,881	V471A	probably benign	Het
Dnah1	C	T	14: 31,279,171	G2406S	probably benign	Het
Dnah8	A	G	17: 30,737,427	K2127R	probably damaging	Het
Dusp13	G	A	14: 21,740,165	R38C	probably benign	Het
Ebf2	T	A	14: 67,235,145	I4N	probably benign	Het
Fcgbp	A	G	7: 28,091,483	N723S	possibly damaging	Het
Galnt15	T	A	14: 32,048,070	V368E	probably damaging	Het
Garem2	A	G	5: 30,108,264	E42G	possibly damaging	Het
Gcc1	C	T	6: 28,418,183	S717N	probably damaging	Het
Gfm2	T	C	13: 97,172,693		probably null	Het
Gm49333	C	T	16: 20,640,625	P570L	probably damaging	Het
Gpr1	T	C	1: 63,183,986	E30G	probably benign	Het
Helb	T	C	10: 120,084,885	D1051G	possibly damaging	Het
Helz2	T	A	2: 181,232,468	I2078F	possibly damaging	Het
Hsph1	A	T	5: 149,629,805	V297D	probably damaging	Het
Ifnar1	A	G	16: 91,505,191	Y518C	probably benign	Het
Kcnip2	T	A	19: 45,794,771	D153V	probably damaging	Het
Kif15	A	T	9: 123,017,427		probably benign	Het
Kif21b	T	C	1: 136,145,304	F147L	probably damaging	Het
Klhl29	T	C	12: 5,090,537	R702G	probably damaging	Het
Lemd3	C	T	10: 120,931,973	E667K	possibly damaging	Het
Loxl3	T	C	6: 83,035,522	L14P	probably damaging	Het
Lrrd1	A	T	5: 3,850,963	K423*	probably null	Het
Mia2	A	G	12: 59,108,800	D433G	probably damaging	Het
Mpp2	G	T	11: 102,063,273	A216E	probably benign	Het
Mro	T	C	18: 73,876,840		probably null	Het
Mybpc1	T	G	10: 88,523,044	Y1081S	probably damaging	Het
Myh8	T	G	11: 67,299,315	S1260R	possibly damaging	Het
Myo3b	T	C	2: 70,251,750	V618A	probably damaging	Het
Naip2	T	G	13: 100,178,268	D334A	possibly damaging	Het
Naip5	T	A	13: 100,219,830	E1092D	probably benign	Het
Nlrp4c	T	C	7: 6,104,609	*983Q	probably null	Het
Nlrp9a	T	G	7: 26,558,273	F439V	probably damaging	Het
Nploc4	A	T	11: 120,428,542	L64H	probably damaging	Het
Ola1	T	C	2: 73,093,716	E246G	probably benign	Het
Otof	G	A	5: 30,380,188	S1259F	probably benign	Het
Pde4dip	T	C	3: 97,692,359	T2438A	probably damaging	Het
Pex1	A	G	5: 3,636,844	T1242A	probably damaging	Het
Pink1	A	T	4: 138,315,745		probably benign	Het
Prkcq	A	G	2: 11,247,008	T219A	probably damaging	Het
Ptcd3	A	T	6: 71,903,474	Y88*	probably null	Het
Ptpru	A	G	4: 131,788,380	Y888H	probably damaging	Het
Rapgef6	A	G	11: 54,687,841	N1063S	probably benign	Het
Slc1a4	G	A	11: 20,332,532		probably benign	Het
Slc4a4	T	C	5: 89,057,709		probably benign	Het
Slc6a18	A	T	13: 73,671,703	N249K	possibly damaging	Het
Slco2b1	T	G	7: 99,689,007	I104L	probably damaging	Het
Syne3	A	T	12: 104,939,612	S897R	probably benign	Het
Tcrg-V4	C	T	13: 19,184,999	Q7*	probably null	Het
Tmem136	C	T	9: 43,111,369	R230Q	probably benign	Het
Tnni3k	A	G	3: 155,038,509	S69P	probably damaging	Het
Tnpo2	A	G	8: 85,053,534	K700E	probably benign	Het
Top3a	T	C	11: 60,745,869	K657E	probably damaging	Het
Trim6	T	C	7: 104,225,952	L132P	probably damaging	Het
Tshz1	T	C	18: 84,014,862	T474A	probably benign	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 116,068,172		probably benign	Het
Vmn1r179	A	T	7: 23,928,809	I142L	probably benign	Het
Zbtb2	A	T	10: 4,369,183	F281Y	probably damaging	Het
Zfp318	T	C	17: 46,412,507	V1812A	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
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
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'- TTCTGCTGACATCCCACCAG -3'
(R):5'- TCTCCAGCAGAAGGAAGTGG -3'

Sequencing Primer
(F):5'- CCACCAGGGCAGGAAGG -3'
(R):5'- TGTTGAGGCTATAAATAAAAGCCTGG -3'

Posted On

2021-11-19