Mutagenetix > Incidental Mutation

Incidental Mutation 'R5067:Dlc1'

388373

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

042657-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5067 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37034905-37420297 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37051647 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 695 (S695P)

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 benign
Transcript: ENSMUST00000033923
AA Change: S244P

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

SMART Domains

Protein: ENSMUSP00000033923
Gene: ENSMUSG00000031523
AA Change: S244P

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: S278P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000096425
Gene: ENSMUSG00000031523
AA Change: S278P

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: S695P

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000132812
Gene: ENSMUSG00000031523
AA Change: S695P

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

Meta Mutation Damage Score

0.0628

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.3%

Validation Efficiency

100% (54/54)

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak2	T	C	12: 112,748,936 (GRCm39)	N304D	probably benign	Het
Akr7a5	T	C	4: 139,038,333 (GRCm39)	S90P	probably damaging	Het
Aplnr	T	A	2: 84,967,128 (GRCm39)	V51E	probably damaging	Het
Arhgap21	A	T	2: 20,884,848 (GRCm39)	H776Q	probably damaging	Het
Asxl3	C	G	18: 22,658,356 (GRCm39)	A2122G	possibly damaging	Het
Bsn	T	A	9: 107,989,152 (GRCm39)	Y2200F	probably damaging	Het
Btbd10	A	T	7: 112,925,043 (GRCm39)	D268E	probably damaging	Het
Cacna1h	T	C	17: 25,616,782 (GRCm39)	N113D	probably damaging	Het
Cfap54	T	C	10: 92,902,628 (GRCm39)	N175D	probably benign	Het
Cfap61	A	G	2: 145,943,956 (GRCm39)	D134G	probably damaging	Het
Clybl	A	T	14: 122,616,701 (GRCm39)	I239L	possibly damaging	Het
Defb11	A	T	8: 22,396,352 (GRCm39)	F15Y	probably damaging	Het
Fbxl5	T	C	5: 43,916,114 (GRCm39)	K432E	probably benign	Het
Fryl	T	C	5: 73,215,098 (GRCm39)	E2226G	probably benign	Het
Gm10337	T	A	15: 102,412,306 (GRCm39)		probably null	Het
Gm5828	A	G	1: 16,839,516 (GRCm39)		noncoding transcript	Het
Gm8674	A	T	13: 50,053,870 (GRCm39)		noncoding transcript	Het
Ighv6-5	T	C	12: 114,380,191 (GRCm39)		probably null	Het
Insyn2a	A	T	7: 134,520,284 (GRCm39)	V82E	probably benign	Het
Ints14	C	A	9: 64,871,694 (GRCm39)	L11M	probably damaging	Het
Kcp	G	A	6: 29,492,107 (GRCm39)	P153L	probably benign	Het
Lrrk2	A	C	15: 91,649,993 (GRCm39)	N1710T	probably benign	Het
Marchf10	T	A	11: 105,280,933 (GRCm39)	T451S	possibly damaging	Het
Mcf2l	T	G	8: 12,965,959 (GRCm39)		probably benign	Het
Mfng	C	T	15: 78,648,588 (GRCm39)	R163H	probably benign	Het
Neurod2	T	A	11: 98,218,063 (GRCm39)	H367L	possibly damaging	Het
Nfatc4	A	T	14: 56,069,875 (GRCm39)	Q681L	probably damaging	Het
Nkx3-2	T	C	5: 41,919,220 (GRCm39)	N256S	probably damaging	Het
Ntng1	G	A	3: 110,042,661 (GRCm39)	T55M	possibly damaging	Het
Snd1	C	A	6: 28,888,239 (GRCm39)	N891K	probably damaging	Het
Syt7	T	C	19: 10,420,222 (GRCm39)	V382A	possibly damaging	Het
Trim72	T	C	7: 127,609,139 (GRCm39)	S314P	possibly damaging	Het
Ttc41	T	C	10: 86,580,408 (GRCm39)	S785P	probably damaging	Het
Ube2z	C	T	11: 95,953,835 (GRCm39)	V128I	probably benign	Het
Vps26c	T	A	16: 94,327,263 (GRCm39)		probably benign	Het
Wdr43	T	C	17: 71,933,849 (GRCm39)	Y149H	probably benign	Het
Wnk4	T	A	11: 101,153,682 (GRCm39)	V248E	probably damaging	Het
Zcchc2	A	T	1: 105,958,694 (GRCm39)	N1055I	probably damaging	Het
Zdhhc23	T	C	16: 43,794,134 (GRCm39)	Y180C	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- CTTGTTACAGGTGCTGAGGCTC -3'
(R):5'- ATTCCGTCATCAGCGTCTGC -3'

Sequencing Primer
(F):5'- CTGGGTGGAGTTAGACACGCTC -3'
(R):5'- GCTCCTCCGGACACTTTGTAGG -3'

Posted On

2016-06-06