Mutagenetix > Incidental Mutation

Incidental Mutation 'R8526:Dlc1'

658809

Institutional Source

Beutler Lab

Gene Symbol

Dlc1

Ensembl Gene

ENSMUSG00000031523

Gene Name

deleted in liver cancer 1

Synonyms

p122-RhoGAP, Arhgap7, A730069N07Rik, STARD12

MMRRC Submission

067951-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8526 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37034905-37420297 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 37404968 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 274 (V274I)

Ref Sequence

ENSEMBL: ENSMUSP00000132812 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000163663] [ENSMUST00000179501]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000163663
AA Change: V274I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000132812
Gene: ENSMUSG00000031523
AA Change: V274I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000179501

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (42/42)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	A	13: 77,417,935 (GRCm39)	C706*	probably null	Het
4930522L14Rik	T	C	5: 109,885,655 (GRCm39)	I68V	possibly damaging	Het
4931422A03Rik	G	A	2: 103,856,499 (GRCm39)	R21C	unknown	Het
Actr5	T	G	2: 158,474,224 (GRCm39)	F342L	probably damaging	Het
Adamts13	T	C	2: 26,868,012 (GRCm39)	V124A	probably benign	Het
Amotl1	T	C	9: 14,473,492 (GRCm39)	E606G	probably damaging	Het
Carmil2	C	T	8: 106,415,447 (GRCm39)	A265V	probably damaging	Het
Cdh22	T	C	2: 164,954,178 (GRCm39)	E781G	probably damaging	Het
Dennd1b	G	A	1: 138,950,858 (GRCm39)	W33*	probably null	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Ect2l	C	T	10: 18,020,375 (GRCm39)	E582K	probably benign	Het
Eppk1	C	T	15: 75,994,319 (GRCm39)	R854Q	probably benign	Het
Fbxl12	C	A	9: 20,550,160 (GRCm39)	R165L	possibly damaging	Het
Ift88	A	T	14: 57,683,126 (GRCm39)	K40*	probably null	Het
Igkv4-72	A	G	6: 69,204,140 (GRCm39)	V17A	probably benign	Het
Klhl28	T	G	12: 64,998,400 (GRCm39)	T365P	probably damaging	Het
Krt16	T	A	11: 100,137,309 (GRCm39)	Y434F	probably benign	Het
Lyst	T	A	13: 13,935,391 (GRCm39)	V3620E	probably damaging	Het
Mcm9	A	T	10: 53,506,221 (GRCm39)		probably benign	Het
Mef2a	T	C	7: 66,901,473 (GRCm39)	M100V	possibly damaging	Het
Mos	T	C	4: 3,871,709 (GRCm39)	K36E	probably damaging	Het
Ncapg2	T	C	12: 116,403,679 (GRCm39)	Y864H	probably benign	Het
Or1o2	A	G	17: 37,542,470 (GRCm39)	S264P	probably damaging	Het
Or4k2	C	T	14: 50,423,719 (GRCm39)		probably null	Het
Parp14	A	T	16: 35,661,307 (GRCm39)	I1547N	possibly damaging	Het
Pcdh18	A	T	3: 49,710,023 (GRCm39)	Y431N	probably damaging	Het
Phyhd1	T	C	2: 30,156,955 (GRCm39)		probably null	Het
Pkd2	T	C	5: 104,637,102 (GRCm39)	F572L	probably damaging	Het
Rasgrf1	T	A	9: 89,856,901 (GRCm39)	I453N	probably damaging	Het
Robo4	T	A	9: 37,314,801 (GRCm39)	C218*	probably null	Het
Rrbp1	A	G	2: 143,816,403 (GRCm39)	V742A	probably benign	Het
Serpinb3a	A	T	1: 106,976,504 (GRCm39)		probably null	Het
Sgsm2	T	G	11: 74,759,847 (GRCm39)	E97A	probably benign	Het
Smad4	A	T	18: 73,790,330 (GRCm39)		probably null	Het
Snd1	T	C	6: 28,745,253 (GRCm39)	Y533H	probably benign	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Stk36	A	G	1: 74,673,703 (GRCm39)	T1199A	probably benign	Het
Veph1	T	A	3: 66,066,737 (GRCm39)	N417I	probably benign	Het
Vmn1r8	A	G	6: 57,013,362 (GRCm39)	S138G	probably benign	Het
Vmn2r10	C	T	5: 109,145,572 (GRCm39)	V512I	possibly damaging	Het
Zfp740	A	G	15: 102,116,726 (GRCm39)	D47G	probably null	Het
Zfp810	T	C	9: 22,189,586 (GRCm39)	K441E	probably damaging	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
IGL01871:Dlc1	APN	8	37,317,334 (GRCm39)	missense	probably damaging	0.99
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
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

Predicted Primers

PCR Primer
(F):5'- TGTCTACAGTCTCCTGGGTG -3'
(R):5'- ATACGGAAGATGACGTCACTCC -3'

Sequencing Primer
(F):5'- GGGGCCCCTTAAGTGTAAACAC -3'
(R):5'- GGAAGATGACGTCACTCCTAAGAC -3'

Posted On

2021-01-18