Mutagenetix > Incidental Mutation

Incidental Mutation 'R0646:Dlc1'

57165

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

038831-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0646 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37034905-37420297 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37325205 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 367 (T367A)

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 benign
Transcript: ENSMUST00000163663
AA Change: T367A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000132812
Gene: ENSMUSG00000031523
AA Change: T367A

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

noncoding transcript
Transcript: ENSMUST00000178717

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

95% (123/130)

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: 125 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	C	T	7: 29,260,710 (GRCm39)		noncoding transcript	Het
Abcb11	A	G	2: 69,115,627 (GRCm39)	I579T	probably damaging	Het
Abcc9	T	C	6: 142,627,830 (GRCm39)	N400S	probably benign	Het
Adarb2	T	C	13: 8,781,855 (GRCm39)	L577P	probably damaging	Het
Agt	A	C	8: 125,283,852 (GRCm39)	N422K	probably damaging	Het
Ahnak	A	T	19: 8,990,766 (GRCm39)	K4017*	probably null	Het
Akap13	C	A	7: 75,397,494 (GRCm39)	Q2575K	probably damaging	Het
Aldh3a2	A	T	11: 61,144,541 (GRCm39)	I339K	probably damaging	Het
Alox15	G	T	11: 70,236,450 (GRCm39)	Y483*	probably null	Het
Ampd1	A	T	3: 103,006,913 (GRCm39)	I713F	probably damaging	Het
Amph	A	T	13: 19,297,286 (GRCm39)	E344V	possibly damaging	Het
Arhgef18	T	C	8: 3,436,959 (GRCm39)	Y250H	probably damaging	Het
Arid5b	A	G	10: 67,932,807 (GRCm39)	S1032P	probably damaging	Het
Armc8	C	A	9: 99,387,741 (GRCm39)	L393F	probably damaging	Het
Bpnt1	A	G	1: 185,077,623 (GRCm39)		probably null	Het
Cachd1	G	A	4: 100,845,418 (GRCm39)	R970H	probably damaging	Het
Cd207	T	C	6: 83,652,738 (GRCm39)	T131A	probably benign	Het
Cd83	G	A	13: 43,951,009 (GRCm39)	V54I	probably benign	Het
Cfap43	T	C	19: 47,752,115 (GRCm39)	K1086E	probably benign	Het
Cfap65	A	T	1: 74,941,328 (GRCm39)	V1837E	probably benign	Het
Clcnka	T	A	4: 141,123,917 (GRCm39)	H89L	probably benign	Het
Cnga4	T	C	7: 105,054,182 (GRCm39)	I50T	possibly damaging	Het
Cog5	A	G	12: 31,887,358 (GRCm39)		probably benign	Het
Col11a2	T	A	17: 34,278,322 (GRCm39)		probably null	Het
Col28a1	T	G	6: 8,175,291 (GRCm39)	I186L	possibly damaging	Het
Col4a2	T	A	8: 11,481,252 (GRCm39)	M808K	probably benign	Het
Copb2	A	G	9: 98,445,528 (GRCm39)		probably benign	Het
Dbnl	G	A	11: 5,745,441 (GRCm39)		probably benign	Het
Dbx2	T	C	15: 95,552,493 (GRCm39)	T51A	possibly damaging	Het
Dcp1a	A	T	14: 30,224,842 (GRCm39)	M123L	probably damaging	Het
Ddx42	T	A	11: 106,123,659 (GRCm39)	F217I	probably benign	Het
Dmgdh	A	T	13: 93,888,863 (GRCm39)	T834S	probably benign	Het
Dnah8	T	C	17: 30,903,147 (GRCm39)	S929P	probably damaging	Het
Dnase1l2	C	A	17: 24,660,056 (GRCm39)	V271L	possibly damaging	Het
Dsc1	T	C	18: 20,229,114 (GRCm39)	Y392C	probably damaging	Het
Edn1	T	C	13: 42,458,718 (GRCm39)		probably benign	Het
Efcab3	G	A	11: 104,611,327 (GRCm39)	D390N	probably benign	Het
Eps8l3	T	C	3: 107,792,126 (GRCm39)	L351P	probably damaging	Het
F12	G	A	13: 55,570,296 (GRCm39)		probably benign	Het
Fam47e	T	C	5: 92,726,317 (GRCm39)		probably benign	Het
Fcrl5	C	A	3: 87,349,320 (GRCm39)	Q32K	probably benign	Het
Fndc1	C	T	17: 7,960,505 (GRCm39)	V1637I	possibly damaging	Het
Foxg1	G	T	12: 49,431,350 (GRCm39)		probably benign	Het
Frrs1	A	T	3: 116,696,070 (GRCm39)	I530F	possibly damaging	Het
Galnt5	A	T	2: 57,889,097 (GRCm39)	K232N	probably benign	Het
Ggt5	G	A	10: 75,438,482 (GRCm39)	V68M	probably damaging	Het
Gm16519	T	C	17: 71,236,101 (GRCm39)	C17R	probably benign	Het
Gm17535	A	G	9: 3,035,804 (GRCm39)	Y224C	probably null	Het
Gm9631	T	G	11: 121,836,455 (GRCm39)	D28A	probably damaging	Het
Gpx2	T	C	12: 76,842,087 (GRCm39)	I21M	probably benign	Het
H2-Q2	T	G	17: 35,564,661 (GRCm39)	D354E	probably damaging	Het
Icam2	A	T	11: 106,271,717 (GRCm39)	I71K	probably damaging	Het
Il12a	T	C	3: 68,605,223 (GRCm39)		probably benign	Het
Insm2	C	G	12: 55,647,225 (GRCm39)	A323G	probably benign	Het
Itga1	T	C	13: 115,104,835 (GRCm39)	T1064A	probably benign	Het
Itgad	T	A	7: 127,773,176 (GRCm39)	V11E	possibly damaging	Het
Kctd15	C	T	7: 34,344,306 (GRCm39)	S115N	probably damaging	Het
Klra5	A	G	6: 129,880,527 (GRCm39)	W124R	probably damaging	Het
Kng2	T	A	16: 22,806,486 (GRCm39)	D571V	probably benign	Het
Kpna6	A	T	4: 129,544,583 (GRCm39)	F380I	probably benign	Het
Lipo3	A	T	19: 33,762,169 (GRCm39)	Y109*	probably null	Het
Lrrc37	T	A	11: 103,503,986 (GRCm39)	K485*	probably null	Het
Man2a2	T	C	7: 80,012,945 (GRCm39)	H540R	possibly damaging	Het
Map2k4	T	C	11: 65,603,101 (GRCm39)	E188G	probably damaging	Het
Mast4	T	C	13: 102,895,252 (GRCm39)		probably benign	Het
Mbtd1	A	G	11: 93,796,038 (GRCm39)	D25G	probably damaging	Het
Med13	T	A	11: 86,221,915 (GRCm39)	Q238L	possibly damaging	Het
Mmachc	A	G	4: 116,560,851 (GRCm39)	Y215H	probably damaging	Het
Mtor	T	A	4: 148,568,811 (GRCm39)	Y1110*	probably null	Het
Nek2	A	G	1: 191,554,331 (GRCm39)	N57D	probably damaging	Het
Nek7	ACCCC	ACCC	1: 138,443,431 (GRCm39)		probably null	Het
Neo1	G	T	9: 58,838,317 (GRCm39)	T489K	probably damaging	Het
Neu1	T	A	17: 35,153,736 (GRCm39)	Y387N	probably damaging	Het
Nfasc	A	T	1: 132,536,176 (GRCm39)	C586*	probably null	Het
Nle1	G	A	11: 82,795,671 (GRCm39)	L259F	probably damaging	Het
Nrde2	G	A	12: 100,110,105 (GRCm39)	Q309*	probably null	Het
Nufip2	C	T	11: 77,577,279 (GRCm39)	H76Y	probably benign	Het
Or10ak16	A	C	4: 118,750,687 (GRCm39)	T136P	probably damaging	Het
Or2y13	A	T	11: 49,415,405 (GRCm39)	N285I	probably damaging	Het
Or4k6	A	T	14: 50,476,096 (GRCm39)	I82N	probably damaging	Het
Or52e18	A	T	7: 104,609,018 (GRCm39)	I307N	probably benign	Het
Or52r1c	T	C	7: 102,735,358 (GRCm39)	F206S	probably damaging	Het
Or9s18	A	T	13: 65,300,877 (GRCm39)	I280F	probably damaging	Het
Pcdhb5	A	G	18: 37,454,675 (GRCm39)	T352A	probably benign	Het
Pcdhb7	A	T	18: 37,476,442 (GRCm39)	D526V	probably damaging	Het
Phkg1	A	T	5: 129,893,394 (GRCm39)		probably null	Het
Plg	C	T	17: 12,637,623 (GRCm39)	T744M	probably damaging	Het
Plxnd1	A	C	6: 115,935,660 (GRCm39)		probably benign	Het
Poglut1	A	T	16: 38,349,837 (GRCm39)	I312N	probably damaging	Het
Ppp1r16a	C	T	15: 76,574,999 (GRCm39)		probably benign	Het
Ppt1	A	G	4: 122,737,892 (GRCm39)	M77V	probably benign	Het
Pramel26	A	C	4: 143,539,155 (GRCm39)	S113A	possibly damaging	Het
Pramel5	G	T	4: 143,998,190 (GRCm39)	T351N	probably damaging	Het
Psmb4	G	A	3: 94,792,275 (GRCm39)	R216C	probably benign	Het
Ptprd	T	C	4: 76,002,640 (GRCm39)	T699A	probably damaging	Het
Retreg3	A	T	11: 100,989,455 (GRCm39)		probably benign	Het
Sanbr	C	T	11: 23,525,491 (GRCm39)	R716H	probably damaging	Het
Scaper	G	A	9: 55,665,340 (GRCm39)	A389V	probably damaging	Het
Serinc5	G	A	13: 92,825,245 (GRCm39)	D225N	possibly damaging	Het
Slco1a1	T	G	6: 141,871,480 (GRCm39)		probably benign	Het
Snapc1	C	T	12: 74,021,806 (GRCm39)	R81C	probably damaging	Het
Sod3	A	T	5: 52,525,421 (GRCm39)	D40V	probably benign	Het
Sorcs3	C	A	19: 48,194,734 (GRCm39)	A39E	probably benign	Het
Spon1	A	T	7: 113,639,056 (GRCm39)	T761S	probably benign	Het
Syde2	A	G	3: 145,720,004 (GRCm39)		probably null	Het
Synm	T	A	7: 67,408,916 (GRCm39)	D154V	probably benign	Het
Synpo2	T	C	3: 122,908,098 (GRCm39)	E406G	probably damaging	Het
Tcea3	T	A	4: 135,975,382 (GRCm39)	L8*	probably null	Het
Tec	G	A	5: 72,980,840 (GRCm39)	L33F	probably damaging	Het
Tex15	T	A	8: 34,072,354 (GRCm39)	S2634T	possibly damaging	Het
Tg	T	A	15: 66,601,475 (GRCm39)	Y162N	probably damaging	Het
Tmem8b	G	A	4: 43,690,123 (GRCm39)	V853I	probably benign	Het
Togaram1	A	G	12: 65,068,240 (GRCm39)	K1748E	probably damaging	Het
Ttn	T	C	2: 76,728,822 (GRCm39)		probably benign	Het
Usp36	C	T	11: 118,163,847 (GRCm39)	D234N	probably damaging	Het
Usp40	G	A	1: 87,906,244 (GRCm39)	P664S	probably benign	Het
Vmn1r54	T	A	6: 90,246,635 (GRCm39)	L183H	probably benign	Het
Vmn1r58	T	G	7: 5,413,676 (GRCm39)	I185L	probably benign	Het
Wnt8a	A	T	18: 34,680,618 (GRCm39)	R328W	probably benign	Het
Yars1	A	G	4: 129,107,732 (GRCm39)		probably benign	Het
Zbtb49	A	C	5: 38,358,018 (GRCm39)	M745R	probably damaging	Het
Zeb1	T	G	18: 5,759,027 (GRCm39)	F162V	probably damaging	Het
Zfp369	A	T	13: 65,445,362 (GRCm39)	H835L	probably damaging	Het
Zic5	A	G	14: 122,701,351 (GRCm39)	V460A	unknown	Het
Zp3	A	G	5: 136,013,210 (GRCm39)	N181D	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
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

Predicted Primers

PCR Primer
(F):5'- ACGAGTTTAAGGGCAGTCACGC -3'
(R):5'- ATACCCAGACGAGACCTTCTCTTCC -3'

Sequencing Primer
(F):5'- gggcagtcacgccaATTTATTTAG -3'
(R):5'- TCTTCCCTGTCAAATAGAAGACCG -3'

Posted On

2013-07-11