Mutagenetix > Incidental Mutation

Incidental Mutation 'R9240:Dlc1'

700692

Institutional Source

Beutler Lab

Gene Symbol

Dlc1

Ensembl Gene

ENSMUSG00000031523

Gene Name

deleted in liver cancer 1

Synonyms

Arhgap7, A730069N07Rik, STARD12, p122-RhoGAP

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9240 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36567751-36953143 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36584851 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 124 (D124E)

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 benign
Transcript: ENSMUST00000033923
AA Change: D124E

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

SMART Domains

Protein: ENSMUSP00000033923
Gene: ENSMUSG00000031523
AA Change: D124E

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 benign
Transcript: ENSMUST00000098826
AA Change: D158E

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

SMART Domains

Protein: ENSMUSP00000096425
Gene: ENSMUSG00000031523
AA Change: D158E

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 benign
Transcript: ENSMUST00000163663
AA Change: D575E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000132812
Gene: ENSMUSG00000031523
AA Change: D575E

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.6%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830010M20Rik	A	G	5: 107,452,168	D175G	probably benign	Het
Acsl1	A	G	8: 46,513,369	I187V	probably benign	Het
Adam7	C	A	14: 68,509,759	V584L	probably benign	Het
Arsg	T	A	11: 109,572,267	V451E	probably benign	Het
Cacnb3	C	T	15: 98,642,605	P338L	probably benign	Het
Cars	G	T	7: 143,584,796	P218Q	probably benign	Het
Ccdc180	T	C	4: 45,917,566		probably null	Het
Cdh23	C	T	10: 60,379,265	D1431N	probably benign	Het
Cenpf	A	T	1: 189,656,970	V1555D	probably benign	Het
Creb3l2	T	C	6: 37,334,571	N428D	possibly damaging	Het
Crebbp	A	T	16: 4,099,673		probably null	Het
Cstf1	C	A	2: 172,375,749	P94Q	probably damaging	Het
Dis3l	A	G	9: 64,310,165		probably null	Het
Dpysl3	C	T	18: 43,354,802	V159I	probably benign	Het
Eea1	T	G	10: 95,940,962	I5S	probably benign	Het
F7	A	T	8: 13,035,173	T400S	probably damaging	Het
Fbxo38	C	A	18: 62,518,561	E558*	probably null	Het
Fcgr2b	C	T	1: 170,969,473		probably null	Het
Fktn	G	A	4: 53,734,854	G125D	probably benign	Het
Flt1	T	C	5: 147,681,866	N220D	probably benign	Het
Fzd9	A	G	5: 135,249,958	Y358H	probably damaging	Het
Gcc2	C	T	10: 58,270,576	Q545*	probably null	Het
Gkn3	T	C	6: 87,388,807	N10S	probably benign	Het
Gls	C	G	1: 52,168,394	V604L	probably benign	Het
Gtf2i	T	A	5: 134,263,765	Q375L	probably benign	Het
Hells	A	G	19: 38,946,845	M320V	possibly damaging	Het
Ints3	T	C	3: 90,403,103	S497G	possibly damaging	Het
Iqub	C	A	6: 24,505,623	L95F	probably benign	Het
Mat1a	G	A	14: 41,105,616	C9Y	probably benign	Het
Mfsd4b5	A	G	10: 39,975,103	L103P	probably damaging	Het
Ms4a14	T	C	19: 11,304,500	I231M	possibly damaging	Het
Muc16	T	C	9: 18,538,013	T7580A	unknown	Het
Myb	A	T	10: 21,140,601	L670Q	probably damaging	Het
Nisch	A	G	14: 31,185,031	L236P	unknown	Het
Olfr1166	A	C	2: 88,124,887	F33V	probably benign	Het
Plscr4	A	T	9: 92,484,881	M183L	probably benign	Het
Polr1a	T	A	6: 71,963,677	C998*	probably null	Het
Prokr2	A	T	2: 132,381,457	V55E	possibly damaging	Het
Prr12	A	T	7: 45,034,651	V1655E	probably damaging	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,579,912		probably benign	Het
Rspo1	C	T	4: 124,991,339	L3F	probably benign	Het
Rtn4rl1	C	A	11: 75,265,256	D171E	probably damaging	Het
Ryr1	A	G	7: 29,043,888	F3895L	probably damaging	Het
Scn8a	G	T	15: 101,017,187	G1211*	probably null	Het
Slc4a11	C	T	2: 130,691,744	A100T	probably damaging	Het
Smarcd3	T	A	5: 24,596,833	M103L	probably benign	Het
Smg1	A	T	7: 118,139,808	S3458T	probably benign	Het
Smg6	C	T	11: 74,935,058	R738W	probably damaging	Het
Spef2	G	A	15: 9,578,315	Q1708*	probably null	Het
Taf2	A	T	15: 55,063,068	V162E	probably null	Het
Tbc1d23	A	T	16: 57,212,385	N154K	possibly damaging	Het
Tbx3	A	G	5: 119,680,895	S532G	probably benign	Het
Tedc1	T	C	12: 113,157,690	I177T	probably benign	Het
Tnrc6b	G	C	15: 80,880,061	G588A	probably damaging	Het
Top2a	T	A	11: 99,010,542	K519*	probably null	Het
Trim47	T	A	11: 116,108,322	M243L	probably benign	Het
Ttn	A	T	2: 76,811,521		probably null	Het
Uggt1	T	C	1: 36,182,615	E624G	possibly damaging	Het
Vmn1r43	G	A	6: 89,869,895	T203M	probably damaging	Het
Vmn2r9	A	G	5: 108,848,233	V183A	possibly damaging	Het
Zfp212	T	A	6: 47,929,098	V197E	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
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
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
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'- CGCTGATGACGGAATTGGTTC -3'
(R):5'- CACTGGGAATATCATTTGGGCTG -3'

Sequencing Primer
(F):5'- ACGGAATTGGTTCGGGGC -3'
(R):5'- GCCTGGCCCTTAACCTGTG -3'

Posted On

2022-02-07