Mutagenetix > Incidental Mutation

Incidental Mutation 'R7271:Dlc1'

565295

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 #

R7271 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36567751-36953143 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36582800 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 587 (Q587R)

Ref Sequence

ENSEMBL: ENSMUSP00000033923 (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: Q587R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000033923
Gene: ENSMUSG00000031523
AA Change: Q587R

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: Q621R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000096425
Gene: ENSMUSG00000031523
AA Change: Q621R

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: Q1038R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000132812
Gene: ENSMUSG00000031523
AA Change: Q1038R

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

0.2559

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (58/58)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430105I19Rik	T	A	2: 118,760,683		probably null	Het
Afg1l	C	T	10: 42,415,548		probably null	Het
Ahnak2	A	T	12: 112,780,802	V70E		Het
Alpk3	A	G	7: 81,078,454	E444G	possibly damaging	Het
Amer2	T	A	14: 60,379,674	D439E	possibly damaging	Het
Ano6	A	G	15: 95,913,900	Y222C	probably damaging	Het
Atp4a	A	C	7: 30,722,519	K827Q	probably benign	Het
Atp9a	G	A	2: 168,734,127			Het
Casp7	T	A	19: 56,436,361	C171S	probably damaging	Het
Ccng2	C	G	5: 93,273,343	S237R	probably benign	Het
Cdkl1	A	G	12: 69,748,811	L315S	probably benign	Het
Crybg1	G	T	10: 43,997,623	S1163*	probably null	Het
Csmd1	A	T	8: 17,027,279	W121R	probably damaging	Het
Cyyr1	A	T	16: 85,465,605	M88K	possibly damaging	Het
Dock2	T	C	11: 34,273,750	E1128G	possibly damaging	Het
Dynap	T	A	18: 70,241,249	T69S	possibly damaging	Het
Esr1	T	C	10: 4,783,874	C225R	probably damaging	Het
Fbxo31	C	T	8: 121,578,764		probably benign	Het
Fndc11	G	A	2: 181,222,100	V233I	possibly damaging	Het
Fto	T	C	8: 91,485,190	F381S	probably damaging	Het
Gm10471	G	A	5: 26,087,995	T67I	probably benign	Het
Gtf2ird1	A	G	5: 134,404,904	L223P	probably benign	Het
Ifi214	A	T	1: 173,529,476	H20Q	probably damaging	Het
Impa2	T	A	18: 67,306,736	I101N	probably damaging	Het
Kidins220	A	T	12: 25,011,571	T854S	probably benign	Het
Lamb1	T	A	12: 31,287,424	C385S	probably damaging	Het
Lrrc8c	A	G	5: 105,607,987	S543G	probably benign	Het
Maats1	A	G	16: 38,328,346	I240T	probably damaging	Het
Manba	A	T	3: 135,542,376	Y342F	probably damaging	Het
Map3k1	T	C	13: 111,756,697	D758G	probably benign	Het
Mtor	G	T	4: 148,546,485	A2300S	possibly damaging	Het
Musk	T	A	4: 58,373,409	M793K	probably damaging	Het
Nup133	A	C	8: 123,922,414	I563S	probably benign	Het
Olfr1117-ps1	T	A	2: 87,284,381	N30K	probably benign	Het
Olfr1283	A	G	2: 111,369,348	T239A	probably damaging	Het
Olfr479	G	A	7: 108,055,216	R78Q	probably damaging	Het
Olfr935	A	T	9: 38,994,657	Y259*	probably null	Het
Pcdh12	C	A	18: 38,283,047	V342F	probably damaging	Het
Pcdhb4	T	A	18: 37,308,169	H177Q	possibly damaging	Het
Pcnx2	G	A	8: 125,886,951	A587V	probably benign	Het
Phkb	C	T	8: 86,043,789	P896S	probably damaging	Het
Prss36	A	G	7: 127,944,705	S165P	probably benign	Het
Prss43	A	G	9: 110,828,603	D190G	probably damaging	Het
Psmd14	T	C	2: 61,761,012	V53A	probably damaging	Het
Sel1l3	T	G	5: 53,116,362	H1054P	probably damaging	Het
Selenoh	T	C	2: 84,670,287	R70G	probably damaging	Het
Serpinb9d	A	G	13: 33,194,634	Q21R	probably benign	Het
Slc29a1	T	C	17: 45,588,362	E262G	probably benign	Het
Slc7a14	A	G	3: 31,224,235	L407P	probably damaging	Het
Smyd4	T	C	11: 75,390,499	V266A	possibly damaging	Het
Spata31d1a	T	A	13: 59,702,099	R738S	probably benign	Het
Srcin1	C	T	11: 97,551,889	G38S	probably damaging	Het
Stab2	A	T	10: 87,003,108		probably null	Het
Syde2	A	G	3: 146,020,276	N1308D	possibly damaging	Het
Trip11	A	T	12: 101,884,352	M1151K	probably damaging	Het
Ttll4	A	T	1: 74,688,661	I861F	possibly damaging	Het
Zfp319	G	A	8: 95,331,843		probably benign	Het
Zfp518b	T	C	5: 38,674,564	N33D	probably benign	Het
Zfp874a	T	A	13: 67,443,296	I90F	probably benign	Het
Zmiz2	G	T	11: 6,399,593	V412L	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
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
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'- GACAGAACGGTCCTATGCTG -3'
(R):5'- TTCAGGGGTTACAAAGACAGTG -3'

Sequencing Primer
(F):5'- AGAACGGTCCTATGCTGAGTGC -3'
(R):5'- TTACAAAGACAGTGGGGGTG -3'

Posted On

2019-06-26