Mutagenetix > Incidental Mutation

Incidental Mutation 'R0513:Dlc1'

48006

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

038707-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0513 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36567751-36953143 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 36584010 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 856 (G856R)

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: G405R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000033923
Gene: ENSMUSG00000031523
AA Change: G405R

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: G439R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000096425
Gene: ENSMUSG00000031523
AA Change: G439R

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

probably damaging
Transcript: ENSMUST00000163663
AA Change: G856R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000132812
Gene: ENSMUSG00000031523
AA Change: G856R

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

0.3291

Coding Region Coverage

1x: 99.5%
3x: 98.7%
10x: 96.6%
20x: 92.9%

Validation Efficiency

99% (122/123)

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: 118 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	A	G	13: 119,469,659	T146A	probably benign	Het
4930452B06Rik	A	C	14: 8,536,609	D199E	probably damaging	Het
5830473C10Rik	A	T	5: 90,577,927	T333S	probably benign	Het
6720489N17Rik	A	C	13: 62,605,215	V99G	possibly damaging	Het
Abcg4	A	G	9: 44,281,687	S121P	possibly damaging	Het
Actr2	T	C	11: 20,080,124	T212A	probably damaging	Het
Adcy10	T	A	1: 165,519,519	D368E	probably benign	Het
Anapc15	T	C	7: 101,898,540		probably benign	Het
Aox4	A	G	1: 58,217,519	R67G	probably benign	Het
Aox4	A	G	1: 58,247,300	D697G	probably damaging	Het
Arhgap42	A	T	9: 9,005,765	S755T	probably benign	Het
Atm	A	G	9: 53,503,948	V881A	probably benign	Het
Cd163l1	C	A	7: 140,224,960	C625*	probably null	Het
Cdkal1	C	T	13: 29,625,965		probably benign	Het
Cfap61	C	A	2: 146,035,295	N491K	possibly damaging	Het
Chgb	T	C	2: 132,785,977		probably benign	Het
Chrna1	C	A	2: 73,568,082		probably benign	Het
Chst10	A	G	1: 38,865,763	L283P	probably damaging	Het
Clca3a1	A	G	3: 144,760,562		probably null	Het
Cryzl1	G	T	16: 91,699,287	A1E	possibly damaging	Het
Csnk1a1	T	C	18: 61,576,547	Y213H	probably damaging	Het
Cspg4	A	G	9: 56,898,091	Q2062R	probably benign	Het
Ctnnal1	A	G	4: 56,835,348	C310R	probably benign	Het
D630003M21Rik	T	C	2: 158,200,308	E906G	probably benign	Het
D930048N14Rik	T	C	11: 51,654,928		probably benign	Het
Dag1	G	A	9: 108,208,485	P486S	possibly damaging	Het
Dgkq	A	G	5: 108,656,495	L33P	probably benign	Het
Dst	T	A	1: 34,219,531		probably benign	Het
Dtl	A	T	1: 191,569,707	Y79*	probably null	Het
Egfr	T	G	11: 16,872,855	L406R	probably damaging	Het
Elp3	A	T	14: 65,563,246		probably null	Het
Fbxw19	C	A	9: 109,481,553		probably null	Het
Frs2	T	C	10: 117,074,665	E264G	possibly damaging	Het
Fscn2	G	T	11: 120,361,880	V58L	probably damaging	Het
Gm17324	G	A	9: 78,448,725		probably benign	Het
Gm4787	A	T	12: 81,378,312	N357K	probably benign	Het
Gm9956	G	T	10: 56,745,195			Het
Gsg1l	C	T	7: 126,020,623		probably null	Het
Herc1	G	A	9: 66,445,645	V2138M	possibly damaging	Het
Htr2a	T	C	14: 74,706,324	L448P	probably benign	Het
Ing3	C	T	6: 21,970,035	S255L	probably damaging	Het
Ispd	A	T	12: 36,390,468	H125L	probably damaging	Het
Krt78	T	C	15: 101,950,949	D271G	probably damaging	Het
Lmbrd2	T	A	15: 9,194,729	L606H	probably damaging	Het
Lmod1	T	A	1: 135,325,168	N53K	probably damaging	Het
Lsr	G	C	7: 30,958,338	A467G	probably benign	Het
Mbtd1	T	A	11: 93,932,212		probably null	Het
Mill1	T	A	7: 18,264,877	Y337*	probably null	Het
Mlxipl	A	T	5: 135,137,263	Q833L	probably benign	Het
Mon2	C	T	10: 123,038,610	V278M	probably damaging	Het
Mxra8	A	C	4: 155,841,733	M180L	probably benign	Het
Myo18a	A	T	11: 77,811,594		probably benign	Het
Myo1c	T	G	11: 75,665,831		probably null	Het
Myo1g	T	C	11: 6,510,203	T782A	probably benign	Het
Ncapd3	A	G	9: 27,064,105		probably benign	Het
Neb	T	C	2: 52,308,687	D414G	probably damaging	Het
Nedd4l	T	A	18: 65,195,185		probably benign	Het
Nf2	T	C	11: 4,791,185	K343R	possibly damaging	Het
Nfasc	A	T	1: 132,603,846	D733E	possibly damaging	Het
Nolc1	G	A	19: 46,084,159	D699N	probably damaging	Het
Nrbp2	C	T	15: 76,088,976	A45T	probably benign	Het
Obscn	A	G	11: 59,061,522	V3907A	possibly damaging	Het
Olfr11	A	T	13: 21,638,949	D191E	probably benign	Het
Olfr1371	T	C	11: 52,213,749	Q80R	possibly damaging	Het
Olfr145	A	T	9: 37,898,055	Y217F	probably damaging	Het
Pank2	C	T	2: 131,282,606	T290I	probably damaging	Het
Pbx4	T	C	8: 69,864,879	V171A	probably benign	Het
Pcgf1	G	T	6: 83,080,574	V75F	probably damaging	Het
Pik3ca	T	C	3: 32,461,511	S778P	probably damaging	Het
Pld6	T	C	11: 59,785,221	I141M	probably damaging	Het
Polq	T	A	16: 37,094,502	V2508E	probably damaging	Het
Prkca	C	G	11: 108,014,376	D179H	possibly damaging	Het
Pspn	T	C	17: 56,999,720	S70G	probably damaging	Het
Ptchd4	C	T	17: 42,503,746	T846I	probably benign	Het
Reg3g	A	C	6: 78,467,844	Y50*	probably null	Het
Rev3l	C	T	10: 39,828,143	H2062Y	probably benign	Het
Rsph4a	C	T	10: 33,912,991	Q611*	probably null	Het
Scgb1b20	G	A	7: 33,373,314		probably null	Het
Sfxn5	T	C	6: 85,269,973		probably benign	Het
Sh3tc1	T	A	5: 35,700,307	Q1179L	possibly damaging	Het
Skint11	A	G	4: 114,194,565	I37V	probably benign	Het
Slc35f5	T	C	1: 125,576,169		probably benign	Het
Slc8a2	A	C	7: 16,157,339	D768A	probably damaging	Het
Slco6b1	A	G	1: 96,997,184		noncoding transcript	Het
Smurf2	T	A	11: 106,836,105	T453S	probably benign	Het
Spag16	A	G	1: 70,493,768		probably benign	Het
Spindoc	G	A	19: 7,374,144	T205I	probably benign	Het
Stab1	T	C	14: 31,148,945	I1316V	probably benign	Het
Stox2	T	C	8: 47,193,865	R187G	probably damaging	Het
Tcea2	A	C	2: 181,684,481	T93P	probably benign	Het
Tenm4	T	C	7: 96,895,623	M2311T	probably benign	Het
Tmem63a	A	G	1: 180,960,461	Q260R	probably benign	Het
Tnpo2	A	T	8: 85,053,529	H698L	probably benign	Het
Trim33	A	G	3: 103,310,384	D215G	probably damaging	Het
Ttc3	T	A	16: 94,426,212	I727N	probably damaging	Het
Ttn	T	A	2: 76,943,325	K2271N	probably damaging	Het
Ubr2	T	A	17: 46,986,779	K223*	probably null	Het
Ubr4	A	G	4: 139,416,875	M1410V	possibly damaging	Het
Ugt2b35	T	C	5: 87,003,412		probably benign	Het
Ulk4	T	A	9: 121,152,325	H880L	probably benign	Het
Unc80	G	A	1: 66,622,474	C1686Y	possibly damaging	Het
Upf2	T	A	2: 5,957,667	L60Q	unknown	Het
Usf2	A	T	7: 30,954,736		probably benign	Het
Usp21	T	A	1: 171,283,012		probably benign	Het
Usp21	T	A	1: 171,283,014		probably benign	Het
Vmn2r118	T	A	17: 55,610,970	K181*	probably null	Het
Vmn2r124	T	A	17: 18,073,729	S693T	possibly damaging	Het
Vmn2r76	C	A	7: 86,228,779	G470V	probably benign	Het
Vps13c	A	C	9: 67,930,735	I1856L	probably benign	Het
Vps50	C	T	6: 3,520,210	L119F	probably damaging	Het
Wdfy3	T	A	5: 101,890,789	S2012C	probably damaging	Het
Zfp142	A	G	1: 74,571,555	V924A	probably damaging	Het
Zfp217	C	T	2: 170,115,462	A539T	probably benign	Het
Zfp235	T	C	7: 24,142,219	S688P	probably damaging	Het
Zfp39	C	T	11: 58,889,987	V650I	probably benign	Het
Zfp82	A	T	7: 30,056,840	N272K	probably damaging	Het
Zfyve21	A	C	12: 111,823,264	D54A	possibly damaging	Het
Zfyve26	C	T	12: 79,244,484	D2116N	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
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
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'- TCGTCGGAAAACTTCTCGGACCAC -3'
(R):5'- CCCATTCAGTCAGTCCACCTTGAAC -3'

Sequencing Primer
(F):5'- GGGAAGATGTCCTCATTCTCCAG -3'
(R):5'- ACCTTGAACAACGTGACGG -3'

Posted On

2013-06-12