Mutagenetix > Incidental Mutation

Incidental Mutation 'R6655:Dlc1'

526591

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

044776-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6655 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37034905-37420297 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37039870 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1430 (V1430A)

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: V979A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000033923
Gene: ENSMUSG00000031523
AA Change: V979A

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: V1013A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000096425
Gene: ENSMUSG00000031523
AA Change: V1013A

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: V1430A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000132812
Gene: ENSMUSG00000031523
AA Change: V1430A

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: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AAdacl4fm3	T	A	4: 144,431,815 (GRCm39)	D130V	probably damaging	Het
Akr1b1	C	T	6: 34,286,939 (GRCm39)	V206M	possibly damaging	Het
Alg3	T	A	16: 20,427,776 (GRCm39)	Y12F	probably benign	Het
Arhgef28	A	G	13: 98,036,163 (GRCm39)	Y1699H	probably damaging	Het
Cd109	A	G	9: 78,592,220 (GRCm39)	D778G	probably benign	Het
Dscaml1	G	A	9: 45,658,235 (GRCm39)	V1669I	probably benign	Het
Fkbp8	A	G	8: 70,985,320 (GRCm39)	Y278C	probably damaging	Het
Gm5160	T	C	18: 14,558,187 (GRCm39)	F88S	possibly damaging	Het
Kcnh1	A	G	1: 192,095,391 (GRCm39)	N483S	possibly damaging	Het
Lrp2	A	G	2: 69,284,202 (GRCm39)	S3859P	probably benign	Het
Myof	T	C	19: 37,923,239 (GRCm39)	N1351S	probably damaging	Het
Nbn	A	G	4: 15,981,696 (GRCm39)	E596G	probably damaging	Het
Neurl4	T	C	11: 69,801,742 (GRCm39)		probably null	Het
Nol8	T	C	13: 49,807,868 (GRCm39)	L10P	probably damaging	Het
Or2t46	T	A	11: 58,472,036 (GRCm39)	M122K	probably damaging	Het
Or6c213	T	C	10: 129,573,956 (GRCm39)	T277A	possibly damaging	Het
Pex26	T	C	6: 121,167,170 (GRCm39)		probably benign	Het
Rab3gap2	T	C	1: 184,982,208 (GRCm39)	M420T	probably damaging	Het
Samd9l	C	A	6: 3,377,247 (GRCm39)	V5L	probably benign	Het
Sec22b	T	A	3: 97,821,964 (GRCm39)		probably null	Het
Shank1	A	G	7: 43,976,644 (GRCm39)	I581V	unknown	Het
Ssbp2	C	T	13: 91,812,268 (GRCm39)	P105L	probably damaging	Het
Ttll9	T	C	2: 152,842,223 (GRCm39)		probably null	Het
Veph1	T	A	3: 66,113,034 (GRCm39)	I257F	possibly damaging	Het
Vmn1r222	A	C	13: 23,416,886 (GRCm39)	I109S	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Wnt16	T	C	6: 22,290,965 (GRCm39)	V131A	probably damaging	Het
Zfp747l1	A	G	7: 126,983,512 (GRCm39)	L530P	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- TGAGCTCAGTCACTACCCAG -3'
(R):5'- TTTCAGGTCAGCGAAGGAC -3'

Sequencing Primer
(F):5'- CATGACTGTGCTTTGAAATCGC -3'
(R):5'- AAGGACCCCCGTTAAGGCTTTG -3'

Posted On

2018-07-23