Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01871:Dlc1'

178711

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dlc1

Ensembl Gene

ENSMUSG00000031523

Gene Name

deleted in liver cancer 1

Synonyms

p122-RhoGAP, Arhgap7, A730069N07Rik, STARD12

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01871

Quality Score

Status

Chromosome

Chromosomal Location

37034905-37420297 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 37317334 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 447 (T447I)

Ref Sequence

ENSEMBL: ENSMUSP00000132812 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000163663]

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000036104

Predicted Effect

probably damaging
Transcript: ENSMUST00000163663
AA Change: T447I

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000132812
Gene: ENSMUSG00000031523
AA Change: T447I

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,620,513 (GRCm39)		probably null	Het
Aqp7	G	A	4: 41,045,321 (GRCm39)	R20*	probably null	Het
Asxl2	G	T	12: 3,552,112 (GRCm39)	V1285L	probably benign	Het
Bdp1	A	T	13: 100,202,561 (GRCm39)	S688T	probably benign	Het
Cc2d2a	A	T	5: 43,846,311 (GRCm39)	I357F	probably damaging	Het
Clasp1	A	T	1: 118,498,619 (GRCm39)	I884F	probably damaging	Het
Cpne4	T	G	9: 104,802,956 (GRCm39)	M200R	possibly damaging	Het
Cyp2d10	T	A	15: 82,288,086 (GRCm39)	D180V	probably damaging	Het
Dicer1	A	T	12: 104,670,439 (GRCm39)	V1042D	probably damaging	Het
Efl1	T	C	7: 82,412,527 (GRCm39)	M972T	possibly damaging	Het
Erbin	A	G	13: 103,971,274 (GRCm39)	S781P	probably damaging	Het
Galnt4	G	A	10: 98,945,103 (GRCm39)	G276D	probably damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gmppa	A	G	1: 75,413,661 (GRCm39)	I41V	probably damaging	Het
Golga1	C	T	2: 38,940,210 (GRCm39)		probably benign	Het
H2-Ob	G	T	17: 34,461,519 (GRCm39)	W86L	probably damaging	Het
Hnrnpr	G	A	4: 136,066,885 (GRCm39)	R482H	unknown	Het
L2hgdh	T	C	12: 69,768,869 (GRCm39)	E81G	probably damaging	Het
Mre11a	T	C	9: 14,723,193 (GRCm39)	V389A	possibly damaging	Het
Mxra8	A	G	4: 155,927,258 (GRCm39)	T372A	probably benign	Het
Ncapg	T	A	5: 45,845,923 (GRCm39)	S593R	probably benign	Het
Ndufaf1	C	T	2: 119,488,768 (GRCm39)	W250*	probably null	Het
Neb	T	C	2: 52,043,081 (GRCm39)	E6783G	probably damaging	Het
Nmt2	T	C	2: 3,313,711 (GRCm39)	Y175H	probably damaging	Het
Olfml2b	T	C	1: 170,489,924 (GRCm39)		probably benign	Het
Pitpnm3	T	A	11: 71,946,964 (GRCm39)	M812L	probably damaging	Het
Pou2f3	A	G	9: 43,045,768 (GRCm39)		probably benign	Het
Prkdc	A	G	16: 15,600,951 (GRCm39)	T2871A	probably benign	Het
Rapgef4	A	G	2: 72,028,704 (GRCm39)	T392A	possibly damaging	Het
Rhov	G	T	2: 119,101,219 (GRCm39)	Q71K	probably benign	Het
Slc22a15	T	C	3: 101,768,110 (GRCm39)		probably benign	Het
Spaca1	T	A	4: 34,040,894 (GRCm39)	N22Y	probably damaging	Het
Stmnd1	A	G	13: 46,443,189 (GRCm39)	E107G	probably damaging	Het
Tent5b	A	G	4: 133,213,620 (GRCm39)	I164V	possibly damaging	Het
Timm22	T	C	11: 76,298,263 (GRCm39)	V78A	probably damaging	Het
Usp47	T	C	7: 111,676,993 (GRCm39)		probably benign	Het
Utp4	A	C	8: 107,638,949 (GRCm39)	K419T	probably benign	Het
Zfp410	T	C	12: 84,372,565 (GRCm39)		probably null	Het

Other mutations in Dlc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00493:Dlc1	APN	8	37,037,436 (GRCm39)	utr 3 prime	probably benign
IGL00807:Dlc1	APN	8	37,040,002 (GRCm39)	missense	probably benign	0.01
IGL00924:Dlc1	APN	8	37,405,368 (GRCm39)	missense	probably benign
IGL01349:Dlc1	APN	8	37,050,978 (GRCm39)	missense	probably damaging	0.96
IGL01419:Dlc1	APN	8	37,317,371 (GRCm39)	missense	probably benign	0.02
IGL01937:Dlc1	APN	8	37,317,345 (GRCm39)	missense	probably benign	0.25
IGL02525:Dlc1	APN	8	37,046,800 (GRCm39)	missense	probably damaging	1.00
IGL02696:Dlc1	APN	8	37,041,326 (GRCm39)	missense	possibly damaging	0.65
IGL02826:Dlc1	APN	8	37,037,429 (GRCm39)	utr 3 prime	probably benign
IGL03029:Dlc1	APN	8	37,038,416 (GRCm39)	splice site	probably null
BB001:Dlc1	UTSW	8	37,038,570 (GRCm39)	missense	probably benign	0.03
BB011:Dlc1	UTSW	8	37,038,570 (GRCm39)	missense	probably benign	0.03
IGL02835:Dlc1	UTSW	8	37,051,055 (GRCm39)	missense	probably damaging	1.00
R0068:Dlc1	UTSW	8	37,404,875 (GRCm39)	missense	probably benign
R0068:Dlc1	UTSW	8	37,404,875 (GRCm39)	missense	probably benign
R0164:Dlc1	UTSW	8	37,066,594 (GRCm39)	missense	probably damaging	0.96
R0164:Dlc1	UTSW	8	37,066,594 (GRCm39)	missense	probably damaging	0.96
R0218:Dlc1	UTSW	8	37,317,383 (GRCm39)	missense	probably benign
R0419:Dlc1	UTSW	8	37,050,740 (GRCm39)	missense	possibly damaging	0.69
R0513:Dlc1	UTSW	8	37,051,164 (GRCm39)	missense	probably damaging	1.00
R0645:Dlc1	UTSW	8	37,041,203 (GRCm39)	missense	possibly damaging	0.60
R0646:Dlc1	UTSW	8	37,325,205 (GRCm39)	missense	probably benign
R0727:Dlc1	UTSW	8	37,039,828 (GRCm39)	missense	probably damaging	0.99
R0792:Dlc1	UTSW	8	37,405,702 (GRCm39)	missense	probably benign	0.00
R1061:Dlc1	UTSW	8	37,325,205 (GRCm39)	missense	probably benign
R1221:Dlc1	UTSW	8	37,051,985 (GRCm39)	missense	probably benign
R1440:Dlc1	UTSW	8	37,060,617 (GRCm39)	splice site	probably benign
R1501:Dlc1	UTSW	8	37,405,302 (GRCm39)	missense	probably benign	0.06
R1606:Dlc1	UTSW	8	37,317,406 (GRCm39)	missense	probably benign
R1707:Dlc1	UTSW	8	37,404,763 (GRCm39)	missense	probably benign	0.03
R1750:Dlc1	UTSW	8	37,325,244 (GRCm39)	splice site	probably null
R1762:Dlc1	UTSW	8	37,404,739 (GRCm39)	missense	probably benign	0.25
R2041:Dlc1	UTSW	8	37,049,922 (GRCm39)	missense	probably damaging	1.00
R2055:Dlc1	UTSW	8	37,060,535 (GRCm39)	missense	probably damaging	0.98
R2091:Dlc1	UTSW	8	37,404,763 (GRCm39)	missense	probably benign	0.00
R2987:Dlc1	UTSW	8	37,041,306 (GRCm39)	missense	probably damaging	0.97
R4285:Dlc1	UTSW	8	37,041,282 (GRCm39)	missense	possibly damaging	0.49
R4294:Dlc1	UTSW	8	37,051,907 (GRCm39)	missense	possibly damaging	0.47
R4631:Dlc1	UTSW	8	37,404,712 (GRCm39)	critical splice donor site	probably null
R4828:Dlc1	UTSW	8	37,317,400 (GRCm39)	missense	possibly damaging	0.69
R4867:Dlc1	UTSW	8	37,051,799 (GRCm39)	missense	probably benign	0.01
R4902:Dlc1	UTSW	8	37,044,285 (GRCm39)	missense	probably damaging	1.00
R5067:Dlc1	UTSW	8	37,051,647 (GRCm39)	missense	probably benign	0.04
R5068:Dlc1	UTSW	8	37,405,184 (GRCm39)	missense	probably benign
R5198:Dlc1	UTSW	8	37,405,552 (GRCm39)	missense	probably damaging	1.00
R5471:Dlc1	UTSW	8	37,051,879 (GRCm39)	missense	probably benign	0.26
R5668:Dlc1	UTSW	8	37,404,655 (GRCm39)	unclassified	probably benign
R5915:Dlc1	UTSW	8	37,405,829 (GRCm39)	utr 5 prime	probably benign
R6323:Dlc1	UTSW	8	37,405,537 (GRCm39)	missense	possibly damaging	0.62
R6655:Dlc1	UTSW	8	37,039,870 (GRCm39)	missense	probably damaging	1.00
R6908:Dlc1	UTSW	8	37,404,841 (GRCm39)	missense	probably benign	0.02
R6914:Dlc1	UTSW	8	37,405,364 (GRCm39)	missense	probably benign
R6942:Dlc1	UTSW	8	37,405,364 (GRCm39)	missense	probably benign
R7269:Dlc1	UTSW	8	37,046,407 (GRCm39)	missense	probably damaging	1.00
R7271:Dlc1	UTSW	8	37,049,954 (GRCm39)	missense	probably damaging	0.99
R7462:Dlc1	UTSW	8	37,405,118 (GRCm39)	missense	unknown
R7548:Dlc1	UTSW	8	37,051,809 (GRCm39)	missense	probably benign	0.00
R7649:Dlc1	UTSW	8	37,049,894 (GRCm39)	missense	probably damaging	1.00
R7924:Dlc1	UTSW	8	37,038,570 (GRCm39)	missense	probably benign	0.03
R7960:Dlc1	UTSW	8	37,404,989 (GRCm39)	missense	probably benign
R7984:Dlc1	UTSW	8	37,405,472 (GRCm39)	missense	possibly damaging	0.85
R8227:Dlc1	UTSW	8	37,039,825 (GRCm39)	missense	probably damaging	1.00
R8491:Dlc1	UTSW	8	37,052,000 (GRCm39)	missense	probably benign
R8526:Dlc1	UTSW	8	37,404,968 (GRCm39)	missense	probably benign	0.00
R8715:Dlc1	UTSW	8	37,405,795 (GRCm39)	start gained	probably benign
R8887:Dlc1	UTSW	8	37,051,481 (GRCm39)	missense	probably benign	0.34
R8972:Dlc1	UTSW	8	37,405,394 (GRCm39)	nonsense	probably null
R8988:Dlc1	UTSW	8	37,039,997 (GRCm39)	missense	probably damaging	0.96
R9031:Dlc1	UTSW	8	37,405,055 (GRCm39)	missense	possibly damaging	0.95
R9080:Dlc1	UTSW	8	37,052,006 (GRCm39)	missense	probably benign
R9092:Dlc1	UTSW	8	37,199,860 (GRCm39)	missense	probably benign	0.03
R9096:Dlc1	UTSW	8	37,080,721 (GRCm39)	missense	probably benign	0.00
R9097:Dlc1	UTSW	8	37,080,721 (GRCm39)	missense	probably benign	0.00
R9166:Dlc1	UTSW	8	37,066,589 (GRCm39)	missense	probably damaging	1.00
R9187:Dlc1	UTSW	8	37,405,786 (GRCm39)	start codon destroyed	probably null	1.00
R9240:Dlc1	UTSW	8	37,052,005 (GRCm39)	missense	probably benign
R9276:Dlc1	UTSW	8	37,046,558 (GRCm39)	missense	possibly damaging	0.83
R9325:Dlc1	UTSW	8	37,038,518 (GRCm39)	missense	possibly damaging	0.83
Z1176:Dlc1	UTSW	8	37,051,365 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07