Mutagenetix > Incidental Mutation

Incidental Mutation 'R0419:Dlc1'

36926

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

038621-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0419 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36567751-36953143 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36583586 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 997 (E997G)

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 benign
Transcript: ENSMUST00000033923
AA Change: E546G

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000033923
Gene: ENSMUSG00000031523
AA Change: E546G

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

possibly damaging
Transcript: ENSMUST00000098826
AA Change: E580G

PolyPhen 2 Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000096425
Gene: ENSMUSG00000031523
AA Change: E580G

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

possibly damaging
Transcript: ENSMUST00000163663
AA Change: E997G

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000132812
Gene: ENSMUSG00000031523
AA Change: E997G

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

0.0926

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.8%

Validation Efficiency

98% (54/55)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029H14Rik	T	C	8: 13,551,842		probably benign	Het
2210010C04Rik	T	C	6: 41,034,347	N34D	probably benign	Het
5730507C01Rik	A	T	12: 18,533,423	R161S	possibly damaging	Het
Adamts5	T	C	16: 85,866,642	I735V	probably benign	Het
Arid1a	G	T	4: 133,681,124	P2024Q	unknown	Het
Ascc3	G	T	10: 50,748,926	V1637L	probably benign	Het
B3galt4	T	C	17: 33,950,790	Y158C	probably damaging	Het
BC049715	A	G	6: 136,840,145	T128A	possibly damaging	Het
Btaf1	T	A	19: 36,945,229	I11N	probably damaging	Het
Cfb	T	C	17: 34,858,509	I496V	probably damaging	Het
Chd8	A	T	14: 52,204,060	H858Q	probably benign	Het
Chrne	T	C	11: 70,615,723	I324V	probably benign	Het
Clec14a	T	C	12: 58,267,665	I390M	probably damaging	Het
Cpsf3	A	G	12: 21,297,799	Y207C	probably damaging	Het
Cubn	A	C	2: 13,469,763	I410S	possibly damaging	Het
Cubn	T	A	2: 13,469,764	I410F	possibly damaging	Het
Emilin1	G	T	5: 30,915,022	V71F	probably damaging	Het
Esrp2	T	C	8: 106,134,675	E164G	probably damaging	Het
Fars2	A	G	13: 36,537,311	T410A	probably benign	Het
Fat3	A	G	9: 15,992,256	V2981A	probably damaging	Het
Fkbp15	G	A	4: 62,326,136	T472I	probably benign	Het
Gm6871	A	G	7: 41,573,445	V73A	probably benign	Het
Gnl2	T	G	4: 125,053,527	S647R	probably benign	Het
Grb10	T	C	11: 11,934,207	I500V	possibly damaging	Het
Herc1	T	C	9: 66,446,074		probably benign	Het
Iqgap2	A	C	13: 95,689,699		probably null	Het
Kcnu1	A	T	8: 25,937,618	N321I	probably benign	Het
Kif23	G	A	9: 61,926,405	R519*	probably null	Het
Klhl1	C	T	14: 96,381,789	R224Q	probably benign	Het
Lama1	T	C	17: 67,791,610		probably null	Het
Lamp3	T	C	16: 19,673,552	Y314C	probably damaging	Het
Lamtor5	C	A	3: 107,281,911	R88S	probably damaging	Het
Nbea	G	T	3: 55,819,294	A2088E	probably benign	Het
Neo1	A	G	9: 58,990,180		probably benign	Het
Ntn4	A	T	10: 93,682,429	R199S	probably benign	Het
Olfr1020	A	T	2: 85,849,967	R172*	probably null	Het
Plekho2	A	G	9: 65,557,052	S172P	possibly damaging	Het
Pmp2	T	C	3: 10,180,763	Y129C	probably damaging	Het
Ralgapa2	A	T	2: 146,428,672	M578K	possibly damaging	Het
Ranbp3	C	T	17: 56,708,219	T307M	possibly damaging	Het
Serpinb11	G	A	1: 107,376,860	W185*	probably null	Het
Setdb2	A	T	14: 59,406,744		probably null	Het
Sirpb1b	A	T	3: 15,548,596	V75E	probably damaging	Het
Slc13a1	A	T	6: 24,100,293	L397Q	probably damaging	Het
Slc19a1	T	A	10: 77,042,908	I355N	probably damaging	Het
Slc51a	T	A	16: 32,476,436	I275F	possibly damaging	Het
Spink14	T	C	18: 44,031,867	S84P	probably damaging	Het
Stx2	A	G	5: 128,993,577		probably benign	Het
Tgfbi	G	T	13: 56,632,193		probably benign	Het
Tshr	T	A	12: 91,537,869	M527K	probably damaging	Het
Upb1	T	C	10: 75,412,883	V79A	probably damaging	Het
Zdhhc5	A	T	2: 84,691,243		probably null	Het
Zfp11	C	T	5: 129,658,238	G53E	possibly damaging	Het
Zfp280d	T	C	9: 72,312,237	V32A	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
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
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'- GTCCACTGTCTGCATCCTTGATGAC -3'
(R):5'- CAGCCGCCTGAGCATCTATGATAAC -3'

Sequencing Primer
(F):5'- GCATCCTTGATGACCAAAGGTTC -3'
(R):5'- CTGGAGAATGAGGACATCTTCCC -3'

Posted On

2013-05-09