Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02525:Dlc1'

297045

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02525

Quality Score

Status

Chromosome

Chromosomal Location

36567751-36953143 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36579646 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 1091 (F1091L)

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: F640L

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

SMART Domains

Protein: ENSMUSP00000033923
Gene: ENSMUSG00000031523
AA Change: F640L

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: F674L

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

SMART Domains

Protein: ENSMUSP00000096425
Gene: ENSMUSG00000031523
AA Change: F674L

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

noncoding transcript
Transcript: ENSMUST00000156312

Predicted Effect

probably damaging
Transcript: ENSMUST00000163663
AA Change: F1091L

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

SMART Domains

Protein: ENSMUSP00000132812
Gene: ENSMUSG00000031523
AA Change: F1091L

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

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	C	T	8: 24,611,044	V701I	probably benign	Het
Adam18	A	G	8: 24,641,767		probably benign	Het
Adamts20	G	T	15: 94,283,078		probably null	Het
Adgrf5	G	T	17: 43,449,963	V850F	probably damaging	Het
Agap2	T	A	10: 127,083,201		probably null	Het
Ap4b1	G	A	3: 103,812,848	R62K	probably damaging	Het
Atp2a3	C	A	11: 72,975,339	H262N	probably benign	Het
Ccdc12	T	A	9: 110,711,101	D120E	probably damaging	Het
Ccdc22	A	G	X: 7,595,010	S529P	probably damaging	Het
Col1a2	A	G	6: 4,531,355		probably benign	Het
Ddx59	A	T	1: 136,417,005	Q138L	probably benign	Het
Dnah1	C	T	14: 31,305,833	V682M	probably benign	Het
Dock9	C	T	14: 121,640,126	D404N	probably damaging	Het
Eif2b4	A	G	5: 31,189,618	V402A	probably damaging	Het
Erlin1	T	C	19: 44,039,195	H268R	probably benign	Het
Ermard	T	C	17: 15,059,339		probably benign	Het
Fam43a	A	G	16: 30,600,778	K60R	probably benign	Het
Frmd4b	T	A	6: 97,412,533	D78V	probably damaging	Het
Gabrq	A	G	X: 72,836,824	T308A	possibly damaging	Het
Gipr	A	G	7: 19,159,765	C328R	possibly damaging	Het
Gm17078	T	C	14: 51,611,223	N19S	possibly damaging	Het
Gm17541	T	C	12: 4,689,907		probably benign	Het
Gm21759	T	C	5: 8,179,967		probably benign	Het
Gm7964	A	G	7: 83,756,042		noncoding transcript	Het
Gspt1	A	G	16: 11,230,990	V318A	probably damaging	Het
Gtf2ird2	A	G	5: 134,216,477	S526G	probably benign	Het
Hey2	A	G	10: 30,842,647	M1T	probably null	Het
Hipk3	T	C	2: 104,471,412	D145G	probably damaging	Het
Ick	A	G	9: 78,160,393	K390E	probably benign	Het
Itgae	A	G	11: 73,130,951	D886G	probably damaging	Het
Ktn1	T	A	14: 47,724,743		probably null	Het
Med12l	A	G	3: 59,068,368	K239R	probably benign	Het
Milr1	A	T	11: 106,765,275	M124L	probably benign	Het
Mon1b	G	T	8: 113,638,823	R261L	possibly damaging	Het
Mterf1a	G	A	5: 3,891,583	S95F	probably benign	Het
Myef2	C	A	2: 125,114,058		probably benign	Het
Nfrkb	T	A	9: 31,414,516	I1085N	possibly damaging	Het
Olfr275	A	T	4: 52,825,616	Y73F	probably damaging	Het
Olfr924	T	A	9: 38,848,240	M42K	possibly damaging	Het
Prodh	G	A	16: 18,072,468	Q430*	probably null	Het
Pstk	G	T	7: 131,371,193	R7L	probably benign	Het
Ptgr1	C	A	4: 58,978,067	E108D	probably benign	Het
Ptpn9	T	A	9: 57,036,725	Y294*	probably null	Het
Rnls	C	T	19: 33,138,214	V153M	possibly damaging	Het
Ros1	T	C	10: 52,116,042	T1362A	possibly damaging	Het
Samt3	G	A	X: 86,046,921	A140T	possibly damaging	Het
Sbpl	T	A	17: 23,954,863	M16L	unknown	Het
Sephs1	G	A	2: 4,906,596	C327Y	probably damaging	Het
Slc13a1	A	T	6: 24,137,136	I93N	probably damaging	Het
Slc34a1	T	C	13: 55,403,238		probably benign	Het
Slc7a9	T	C	7: 35,453,435	S93P	probably damaging	Het
Slx4	A	G	16: 3,980,597	S1444P	probably damaging	Het
Stk32b	C	T	5: 37,531,633	V116M	probably damaging	Het
Supt5	A	G	7: 28,318,947		probably benign	Het
Syne2	T	A	12: 76,101,003	S6439T	probably damaging	Het
Taar7d	A	G	10: 24,028,096	D292G	possibly damaging	Het
Tal2	A	T	4: 53,785,971	I51F	probably damaging	Het
Thegl	T	A	5: 77,016,553	D134E	probably benign	Het
Tk2	A	T	8: 104,243,400	N77K	probably benign	Het
Tmprss3	T	A	17: 31,194,891		probably benign	Het
Tnfrsf10b	T	C	14: 69,782,376	M319T	probably damaging	Het
Trim24	A	G	6: 37,945,718	R417G	probably damaging	Het
Ttn	C	A	2: 76,764,314	G18717*	probably null	Het
Vmn2r102	A	G	17: 19,681,185	T525A	probably benign	Het
Wdr38	A	T	2: 38,998,412	N7I	probably damaging	Het
Wnt3	C	T	11: 103,812,470	R260W	probably damaging	Het
Xdh	T	A	17: 73,924,995	Q240L	possibly damaging	Het
Zbtb5	T	C	4: 44,994,731	T218A	probably benign	Het
Znfx1	C	T	2: 167,037,537	E776K	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
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
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

Posted On

2015-04-16