Mutagenetix > Incidental Mutation

Incidental Mutation 'R1606:Dlc1'

176484

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

039643-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1606 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36567751-36953143 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36850252 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 423 (V423A)

Ref Sequence

ENSEMBL: ENSMUSP00000132812 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000036104

Predicted Effect

probably benign
Transcript: ENSMUST00000163663
AA Change: V423A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000132812
Gene: ENSMUSG00000031523
AA Change: V423A

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

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.8%
20x: 91.1%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	G	A	3: 36,942,399	D1087N	probably damaging	Het
Abcc2	A	G	19: 43,836,652	D1459G	probably damaging	Het
Adhfe1	G	A	1: 9,553,473		probably null	Het
Adsl	C	T	15: 80,952,224	Q61*	probably null	Het
Arhgap26	T	A	18: 39,296,872	C214S	probably damaging	Het
Armc8	A	T	9: 99,537,729	N9K	probably damaging	Het
Asxl1	A	G	2: 153,400,455	D975G	probably damaging	Het
Atp8b3	T	C	10: 80,532,578	E187G	probably damaging	Het
Cdcp2	T	C	4: 107,102,513	S42P	probably damaging	Het
Chek1	A	G	9: 36,719,524	L198P	probably damaging	Het
Dpy19l2	A	G	9: 24,581,215	S696P	probably benign	Het
Echdc3	A	T	2: 6,195,627	C183S	possibly damaging	Het
Exph5	A	C	9: 53,374,295	D892A	probably benign	Het
Fam120b	T	A	17: 15,401,811	I17K	possibly damaging	Het
Fbln5	C	T	12: 101,765,198	D246N	probably benign	Het
Fbxo15	A	C	18: 84,962,620	K195T	possibly damaging	Het
Fzd1	C	A	5: 4,757,514	E23*	probably null	Het
Gas2l1	C	A	11: 5,064,434	A9S	probably damaging	Het
Gcc2	C	T	10: 58,269,448	L69F	probably damaging	Het
Ggt6	C	T	11: 72,437,733	A353V	possibly damaging	Het
Gm340	T	G	19: 41,585,074	M756R	probably benign	Het
Gphn	T	A	12: 78,683,883	V764E	probably damaging	Het
Grid1	A	T	14: 35,445,965	Y482F	probably damaging	Het
Hlx	G	T	1: 184,731,987	A52D	probably damaging	Het
Ifit1bl1	C	T	19: 34,594,044	V338M	probably benign	Het
Klhl14	T	A	18: 21,565,532	Q408L	possibly damaging	Het
Lacc1	T	A	14: 77,029,641	Q394L	probably benign	Het
Lipe	A	G	7: 25,388,144	F477L	probably damaging	Het
Lrig2	A	G	3: 104,480,107		probably null	Het
Megf8	T	A	7: 25,358,695	H2131Q	probably damaging	Het
Nek1	A	G	8: 61,124,276	D1097G	possibly damaging	Het
Nhlrc3	A	T	3: 53,458,657	Y138*	probably null	Het
Nudcd2	T	A	11: 40,736,007		probably null	Het
Numb	T	C	12: 83,801,010		probably null	Het
Olfr871	T	G	9: 20,212,946	L199R	probably benign	Het
Pacrg	G	A	17: 10,839,838	Q11*	probably null	Het
Ppp1r37	A	T	7: 19,534,999	M192K	probably damaging	Het
Prmt8	T	A	6: 127,689,836	K392*	probably null	Het
Rab28	A	T	5: 41,698,452	W67R	probably damaging	Het
Rad21l	C	T	2: 151,654,686	C365Y	probably damaging	Het
Rbm17	A	T	2: 11,595,397	F147I	probably benign	Het
Rbm46	A	C	3: 82,864,541	F256V	probably damaging	Het
Rcc1	A	T	4: 132,334,776		probably null	Het
Rnf217	G	T	10: 31,534,811	T296N	possibly damaging	Het
Rnmt	A	G	18: 68,311,653	D231G	possibly damaging	Het
Rph3al	C	T	11: 75,906,541	V110I	probably damaging	Het
Rxfp2	T	C	5: 150,059,897	M289T	probably benign	Het
Sash1	T	C	10: 8,729,957	R890G	probably benign	Het
Sf3b2	A	T	19: 5,287,998	D245E	probably benign	Het
Skint9	A	T	4: 112,389,201	V238E	probably benign	Het
Slc26a8	T	A	17: 28,638,481	D896V	possibly damaging	Het
Slc35b4	T	A	6: 34,158,388	K330*	probably null	Het
Slco1a4	G	T	6: 141,839,611	H84Q	probably damaging	Het
Sptbn2	G	T	19: 4,750,242		probably null	Het
St6galnac3	A	T	3: 153,206,668	D227E	probably benign	Het
Tek	G	A	4: 94,849,767	D685N	probably damaging	Het
Trf	G	T	9: 103,225,136		probably null	Het
Trpm5	T	A	7: 143,085,171	K288*	probably null	Het
Ttn	C	T	2: 76,737,012	V27846I	probably damaging	Het
Tyr	A	T	7: 87,437,971	D444E	probably benign	Het
Ucp1	C	A	8: 83,295,304	A255E	probably damaging	Het
Ush2a	A	G	1: 188,759,766	D3084G	probably benign	Het
Yeats4	T	C	10: 117,217,439	Y139C	probably damaging	Het
Zbtb6	A	G	2: 37,429,118	V266A	probably benign	Het
Zfp784	A	T	7: 5,035,775	N261K	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
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'- GGGCAACAAGGACAGTAACTTACACTC -3'
(R):5'- AGGAAGTCCAGAAGGCATTTTGTTACC -3'

Sequencing Primer
(F):5'- GCAGCATACACTTTTAGGGTGAC -3'
(R):5'- ACCTATGTGATACTGAGTTCCTG -3'

Posted On

2014-04-24