Mutagenetix > Incidental Mutation

Incidental Mutation 'R8988:Dlc1'

684228

Institutional Source

Beutler Lab

Gene Symbol

Dlc1

Ensembl Gene

ENSMUSG00000031523

Gene Name

deleted in liver cancer 1

Synonyms

Arhgap7, A730069N07Rik, STARD12, p122-RhoGAP

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8988 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36567751-36953143 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 36572843 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 937 (E937K)

Ref Sequence

ENSEMBL: ENSMUSP00000033923 (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: E937K

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000033923
Gene: ENSMUSG00000031523
AA Change: E937K

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: E971K

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000096425
Gene: ENSMUSG00000031523
AA Change: E971K

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 damaging
Transcript: ENSMUST00000163663
AA Change: E1388K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000132812
Gene: ENSMUSG00000031523
AA Change: E1388K

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

96% (81/84)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810403A07Rik	A	G	3: 88,699,979	N330S	probably benign	Het
Abi2	C	T	1: 60,450,092	T291I	probably benign	Het
Aox1	A	C	1: 58,049,466	D137A	possibly damaging	Het
Apbb2	T	C	5: 66,452,101	K68E	probably damaging	Het
Arf3	A	T	15: 98,741,052	M108K	probably benign	Het
Atg2b	T	A	12: 105,617,129	I2058F	probably damaging	Het
Bhlhe40	C	T	6: 108,662,557	L99F	probably damaging	Het
Cyp2b10	G	A	7: 25,926,245	R500H	probably damaging	Het
Dll3	A	T	7: 28,296,368	V336D	possibly damaging	Het
Dync2h1	A	G	9: 7,037,727	F3377L	probably benign	Het
Eef1d	A	G	15: 75,896,311	Y561H	probably damaging	Het
Epb41l1	C	A	2: 156,521,671	T700K	probably benign	Het
Epha8	G	T	4: 136,938,586	L420M	probably damaging	Het
Ephb2	C	A	4: 136,675,458	G501C	probably benign	Het
Erbb3	T	C	10: 128,570,161	Y1129C	probably damaging	Het
Fbn1	C	T	2: 125,370,806	V799M	possibly damaging	Het
Fbxo9	G	A	9: 78,084,651	P353S	probably benign	Het
Ggt1	T	G	10: 75,576,222	V100G	probably benign	Het
Gm11639	T	G	11: 105,020,526	V4544G	probably benign	Het
Gm45861	T	C	8: 27,542,503	M885T	unknown	Het
Gm609	T	C	16: 45,417,908	H294R	probably benign	Het
Grin2d	A	T	7: 45,834,001	Y917*	probably null	Het
Hectd4	T	A	5: 121,277,756	V540D	possibly damaging	Het
Helz	T	A	11: 107,604,253	I351K	probably damaging	Het
Ighv2-6-8	A	G	12: 113,796,360	V43A	probably damaging	Het
Igkv9-129	T	A	6: 67,840,122	I70N	probably damaging	Het
Il18	A	T	9: 50,577,878	D69V	probably damaging	Het
Kcnh7	T	A	2: 62,721,865	E927D		Het
Kcnt2	T	A	1: 140,428,849	V342E	probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,850,378		probably benign	Het
Krt18	C	G	15: 102,029,527	A153G	probably damaging	Het
Lmntd2	A	T	7: 141,212,064		probably benign	Het
Lrrc26	G	T	2: 25,290,274	A96S	probably benign	Het
Map3k11	A	T	19: 5,702,138	S783C	probably damaging	Het
Mib2	G	A	4: 155,656,272	L632F	possibly damaging	Het
Mical2	A	C	7: 112,311,454	D277A	possibly damaging	Het
Mtr	A	T	13: 12,235,479	F339L	probably benign	Het
Musk	T	C	4: 58,354,032	F362L	probably benign	Het
Ncor1	G	A	11: 62,343,045	Q444*	probably null	Het
Nek4	T	C	14: 30,963,967	S279P		Het
Nell1	C	T	7: 50,560,795	T348I	unknown	Het
Nicn1	C	T	9: 108,294,509	R163C	possibly damaging	Het
Nrip1	T	C	16: 76,292,014	H885R	probably damaging	Het
Olfr1382	C	A	11: 49,535,201	N5K	probably damaging	Het
Olfr214	A	G	6: 116,557,294	T290A	possibly damaging	Het
Olfr448	T	A	6: 42,897,267	V272D		Het
Olfr525	G	A	7: 140,323,025	G109R	possibly damaging	Het
Olfr784	T	C	10: 129,388,371	V246A	probably damaging	Het
Olfr822	T	A	10: 130,074,653	V81D	possibly damaging	Het
Otog	A	G	7: 46,310,147	D720G	probably damaging	Het
P3h3	C	A	6: 124,857,601	Q29H	possibly damaging	Het
Parn	A	G	16: 13,648,417		probably null	Het
Pcnt	C	A	10: 76,409,573	E1077*	probably null	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Pigb	A	G	9: 73,022,294	W336R	probably damaging	Het
Pkdrej	A	T	15: 85,816,337	S1799R	probably damaging	Het
Pnpla6	G	T	8: 3,517,401	M86I	possibly damaging	Het
Prickle2	T	C	6: 92,458,639	K50E	possibly damaging	Het
Psg21	A	G	7: 18,652,464	V199A	probably benign	Het
Reep3	T	C	10: 67,036,007		probably null	Het
Reln	T	C	5: 21,899,157	D3272G	probably damaging	Het
Rps6ka4	A	G	19: 6,831,299	V526A	possibly damaging	Het
Sel1l3	T	C	5: 53,123,429	E911G	probably damaging	Het
Serpinb6b	C	A	13: 32,978,142	A308E	probably benign	Het
Slc26a4	A	G	12: 31,522,524	V746A	probably benign	Het
Slc4a3	T	G	1: 75,551,313	M402R	probably damaging	Het
Slc9b1	A	T	3: 135,373,139	T186S	possibly damaging	Het
Slk	A	G	19: 47,620,273	Q555R	probably benign	Het
Smc2	T	A	4: 52,475,100	D925E	probably benign	Het
Stat5a	A	T	11: 100,883,938	T758S	unknown	Het
Sulf1	A	G	1: 12,836,275	S514G	probably benign	Het
Tcp11l1	T	A	2: 104,706,508	N4I	probably damaging	Het
Tex2	A	T	11: 106,511,905	I1047K	unknown	Het
Tmem184b	A	G	15: 79,377,064	V114A	possibly damaging	Het
Trmt11	A	G	10: 30,591,031	V95A	probably benign	Het
Trp53bp2	A	G	1: 182,440,868	D169G	possibly damaging	Het
Ttc41	T	A	10: 86,713,735	N264K	possibly damaging	Het
Uba2	A	C	7: 34,154,562	S318R	probably benign	Het
Wapl	T	A	14: 34,729,182	N724K	probably damaging	Het
Wfdc9	T	A	2: 164,651,751	I5F	probably damaging	Het
Zan	C	T	5: 137,408,301	D3686N	unknown	Het
Zfp618	A	T	4: 63,094,471	Y140F	probably benign	Het
Zfp790	A	G	7: 29,828,168	T93A	probably benign	Het
Zfp979	A	C	4: 147,613,527	F242V	probably benign	Het

Other mutations in Dlc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00493:Dlc1	APN	8	36570282	utr 3 prime	probably benign
IGL00807:Dlc1	APN	8	36572848	missense	probably benign	0.01
IGL00924:Dlc1	APN	8	36938214	missense	probably benign
IGL01349:Dlc1	APN	8	36583824	missense	probably damaging	0.96
IGL01419:Dlc1	APN	8	36850217	missense	probably benign	0.02
IGL01871:Dlc1	APN	8	36850180	missense	probably damaging	0.99
IGL01937:Dlc1	APN	8	36850191	missense	probably benign	0.25
IGL02525:Dlc1	APN	8	36579646	missense	probably damaging	1.00
IGL02696:Dlc1	APN	8	36574172	missense	possibly damaging	0.65
IGL02826:Dlc1	APN	8	36570275	utr 3 prime	probably benign
IGL03029:Dlc1	APN	8	36571262	splice site	probably null
BB001:Dlc1	UTSW	8	36571416	missense	probably benign	0.03
BB011:Dlc1	UTSW	8	36571416	missense	probably benign	0.03
IGL02835:Dlc1	UTSW	8	36583901	missense	probably damaging	1.00
R0068:Dlc1	UTSW	8	36937721	missense	probably benign
R0068:Dlc1	UTSW	8	36937721	missense	probably benign
R0164:Dlc1	UTSW	8	36599440	missense	probably damaging	0.96
R0164:Dlc1	UTSW	8	36599440	missense	probably damaging	0.96
R0218:Dlc1	UTSW	8	36850229	missense	probably benign
R0419:Dlc1	UTSW	8	36583586	missense	possibly damaging	0.69
R0513:Dlc1	UTSW	8	36584010	missense	probably damaging	1.00
R0645:Dlc1	UTSW	8	36574049	missense	possibly damaging	0.60
R0646:Dlc1	UTSW	8	36858051	missense	probably benign
R0727:Dlc1	UTSW	8	36572674	missense	probably damaging	0.99
R0792:Dlc1	UTSW	8	36938548	missense	probably benign	0.00
R1061:Dlc1	UTSW	8	36858051	missense	probably benign
R1221:Dlc1	UTSW	8	36584831	missense	probably benign
R1440:Dlc1	UTSW	8	36593463	splice site	probably benign
R1501:Dlc1	UTSW	8	36938148	missense	probably benign	0.06
R1606:Dlc1	UTSW	8	36850252	missense	probably benign
R1707:Dlc1	UTSW	8	36937609	missense	probably benign	0.03
R1750:Dlc1	UTSW	8	36858090	splice site	probably null
R1762:Dlc1	UTSW	8	36937585	missense	probably benign	0.25
R2041:Dlc1	UTSW	8	36582768	missense	probably damaging	1.00
R2055:Dlc1	UTSW	8	36593381	missense	probably damaging	0.98
R2091:Dlc1	UTSW	8	36937609	missense	probably benign	0.00
R2987:Dlc1	UTSW	8	36574152	missense	probably damaging	0.97
R4285:Dlc1	UTSW	8	36574128	missense	possibly damaging	0.49
R4294:Dlc1	UTSW	8	36584753	missense	possibly damaging	0.47
R4631:Dlc1	UTSW	8	36937558	critical splice donor site	probably null
R4828:Dlc1	UTSW	8	36850246	missense	possibly damaging	0.69
R4867:Dlc1	UTSW	8	36584645	missense	probably benign	0.01
R4902:Dlc1	UTSW	8	36577131	missense	probably damaging	1.00
R5067:Dlc1	UTSW	8	36584493	missense	probably benign	0.04
R5068:Dlc1	UTSW	8	36938030	missense	probably benign
R5198:Dlc1	UTSW	8	36938398	missense	probably damaging	1.00
R5471:Dlc1	UTSW	8	36584725	missense	probably benign	0.26
R5668:Dlc1	UTSW	8	36937501	unclassified	probably benign
R5915:Dlc1	UTSW	8	36938675	utr 5 prime	probably benign
R6323:Dlc1	UTSW	8	36938383	missense	possibly damaging	0.62
R6655:Dlc1	UTSW	8	36572716	missense	probably damaging	1.00
R6908:Dlc1	UTSW	8	36937687	missense	probably benign	0.02
R6914:Dlc1	UTSW	8	36938210	missense	probably benign
R6942:Dlc1	UTSW	8	36938210	missense	probably benign
R7269:Dlc1	UTSW	8	36579253	missense	probably damaging	1.00
R7271:Dlc1	UTSW	8	36582800	missense	probably damaging	0.99
R7462:Dlc1	UTSW	8	36937964	missense	unknown
R7548:Dlc1	UTSW	8	36584655	missense	probably benign	0.00
R7649:Dlc1	UTSW	8	36582740	missense	probably damaging	1.00
R7924:Dlc1	UTSW	8	36571416	missense	probably benign	0.03
R7960:Dlc1	UTSW	8	36937835	missense	probably benign
R7984:Dlc1	UTSW	8	36938318	missense	possibly damaging	0.85
R8227:Dlc1	UTSW	8	36572671	missense	probably damaging	1.00
R8491:Dlc1	UTSW	8	36584846	missense	probably benign
R8526:Dlc1	UTSW	8	36937814	missense	probably benign	0.00
R8715:Dlc1	UTSW	8	36938641	start gained	probably benign
R8887:Dlc1	UTSW	8	36584327	missense	probably benign	0.34
R8972:Dlc1	UTSW	8	36938240	nonsense	probably null
R9031:Dlc1	UTSW	8	36937901	missense	possibly damaging	0.95
R9080:Dlc1	UTSW	8	36584852	missense	probably benign
R9092:Dlc1	UTSW	8	36732706	missense	probably benign	0.03
R9096:Dlc1	UTSW	8	36613567	missense	probably benign	0.00
R9097:Dlc1	UTSW	8	36613567	missense	probably benign	0.00
R9166:Dlc1	UTSW	8	36599435	missense	probably damaging	1.00
R9187:Dlc1	UTSW	8	36938632	start codon destroyed	probably null	1.00
R9240:Dlc1	UTSW	8	36584851	missense	probably benign
R9276:Dlc1	UTSW	8	36579404	missense	possibly damaging	0.83
R9325:Dlc1	UTSW	8	36571364	missense	possibly damaging	0.83
Z1176:Dlc1	UTSW	8	36584211	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGACTCACCTCAATACGAC -3'
(R):5'- GCCATGTCTCCTACTCAAAATTTGC -3'

Sequencing Primer
(F):5'- GGACTCACCTCAATACGACGTAGTC -3'
(R):5'- TGCATGCCACCAACTTGG -3'

Posted On

2021-10-11