Mutagenetix > Incidental Mutation

Incidental Mutation 'R4902:Dlc1'

377882

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

042505-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4902 (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 36577131 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1230 (V1230A)

Ref Sequence

ENSEMBL: ENSMUSP00000132812 (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: V779A

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

SMART Domains

Protein: ENSMUSP00000033923
Gene: ENSMUSG00000031523
AA Change: V779A

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: V813A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000096425
Gene: ENSMUSG00000031523
AA Change: V813A

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: V1230A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000132812
Gene: ENSMUSG00000031523
AA Change: V1230A

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

0.1412

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.0%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930488N24Rik	T	C	17: 14,106,146		noncoding transcript	Het
Adamdec1	T	C	14: 68,571,766	N249S	probably damaging	Het
Asxl1	T	A	2: 153,399,831	V767E	probably benign	Het
Atp6v1f	T	C	6: 29,470,272		probably benign	Het
Brix1	T	C	15: 10,483,292		probably null	Het
Cap2	T	C	13: 46,531,025	V2A	probably damaging	Het
Chrnb2	A	G	3: 89,760,941	C356R	probably damaging	Het
Chtf8	C	T	8: 106,885,792	G172R	probably damaging	Het
Cybb	C	G	X: 9,450,750	D246H	probably benign	Het
Dact2	T	A	17: 14,196,729	K403M	possibly damaging	Het
Dhx40	A	C	11: 86,771,210	L674V	possibly damaging	Het
Dnah7b	T	A	1: 46,290,775	S3260T	probably benign	Het
Eef1a2	T	A	2: 181,148,088	D428V	probably benign	Het
Ehd1	T	C	19: 6,294,243	F178L	possibly damaging	Het
F2	A	T	2: 91,634,971		probably benign	Het
Fam186a	T	C	15: 99,946,842	D507G	unknown	Het
Fbxo11	G	A	17: 88,065,274		probably benign	Het
Fry	A	T	5: 150,495,703	M2871L	probably benign	Het
Gabrr2	A	G	4: 33,095,512	D442G	probably damaging	Het
Gemin5	A	G	11: 58,164,277	I214T	probably benign	Het
Gfra2	A	G	14: 70,967,015	N175S	probably damaging	Het
Gm8994	T	G	6: 136,329,264	V241G	probably benign	Het
Gprc5c	G	T	11: 114,864,267	V257L	possibly damaging	Het
Jhy	C	T	9: 40,897,525		probably benign	Het
Krtap5-5	A	T	7: 142,229,419	C165S	unknown	Het
Lce1k	T	A	3: 92,806,827	T17S	unknown	Het
Map3k1	C	T	13: 111,772,612	R268Q	probably damaging	Het
Med13l	T	A	5: 118,745,130	H1351Q	probably damaging	Het
Met	T	C	6: 17,546,996	V876A	probably damaging	Het
Mical2	T	C	7: 112,336,900	S903P	probably benign	Het
Mkks	A	G	2: 136,876,174	V396A	probably benign	Het
Mvk	T	C	5: 114,455,999	V305A	probably benign	Het
Myo5a	A	G	9: 75,174,078	T982A	probably benign	Het
N4bp1	A	G	8: 86,861,683	V209A	probably benign	Het
Nfkbib	G	T	7: 28,761,748	S158*	probably null	Het
Nkx3-1	G	A	14: 69,190,918	G72S	probably benign	Het
Ogfr	A	G	2: 180,593,725		probably benign	Het
Olfr224	G	A	11: 58,566,625	S240F	possibly damaging	Het
Olfr281	T	C	15: 98,456,915	S202P	probably damaging	Het
Olfr518	G	A	7: 108,881,417	T63I	probably benign	Het
Pcdhga8	T	A	18: 37,815,925	D131E	probably damaging	Het
Plch1	A	G	3: 63,740,843		probably benign	Het
Polrmt	A	G	10: 79,746,551	M1T	probably null	Het
Ppp1r12a	T	C	10: 108,230,590	V214A	probably damaging	Het
Prr5l	A	G	2: 101,797,682		probably benign	Het
Prss35	A	G	9: 86,756,122	Q315R	probably damaging	Het
Psg29	G	T	7: 17,211,912	*469L	probably null	Het
Psmd4	A	G	3: 95,035,859	V78A	probably damaging	Het
Rad9a	C	A	19: 4,201,553		probably benign	Het
Rfx7	G	T	9: 72,617,291	V588F	probably benign	Het
Rnase13	A	C	14: 51,922,595	I29S	probably benign	Het
Steap2	T	C	5: 5,675,866	N386S	possibly damaging	Het
Ston1	A	G	17: 88,645,252	E719G	probably damaging	Het
Stx4a	A	G	7: 127,842,762		probably null	Het
Tekt2	A	G	4: 126,323,470	S212P	possibly damaging	Het
Tex19.2	A	T	11: 121,116,956	L222Q	probably damaging	Het
Tmem50a	A	G	4: 134,909,706	I38T	probably damaging	Het
Ubr2	A	G	17: 46,985,996	V286A	possibly damaging	Het
Ugt2b35	T	C	5: 87,003,300	M255T	possibly damaging	Het
Vmn2r17	T	A	5: 109,453,354	F839L	probably benign	Het
Wdr36	T	C	18: 32,859,261	V617A	possibly damaging	Het
Wtip	A	T	7: 34,119,012		probably null	Het
Yeats2	G	A	16: 20,207,668	G765S	probably benign	Het
Zbtb3	T	C	19: 8,803,967	S315P	probably benign	Het
Zdhhc8	T	C	16: 18,227,166	M259V	probably benign	Het
Zfp120	A	G	2: 150,119,520		probably benign	Het
Zfp236	A	T	18: 82,609,418	I1552N	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
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
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'- ACGAGGACTTAATTCCAGGAC -3'
(R):5'- ACGTGCGTGGAAAATTACTGAG -3'

Sequencing Primer
(F):5'- CCTTTGCTAGGTCCAGATAAGAATCC -3'
(R):5'- AAAATTACTGAGTTGGTGGTGGC -3'

Posted On

2016-04-15