Mutagenetix > Incidental Mutation

Incidental Mutation 'R7269:Dlc1'

565156

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 #

R7269 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36567751-36953143 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 36579253 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 730 (L730R)

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: L730R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000033923
Gene: ENSMUSG00000031523
AA Change: L730R

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: L764R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000096425
Gene: ENSMUSG00000031523
AA Change: L764R

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: L1181R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000132812
Gene: ENSMUSG00000031523
AA Change: L1181R

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: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (85/87)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700062C07Rik	A	T	18: 24,472,956	N36I	probably damaging	Het
A430033K04Rik	T	A	5: 138,646,752	Y300N	possibly damaging	Het
Adipor2	T	C	6: 119,370,244	Q26R	probably benign	Het
Ahnak	T	A	19: 9,006,617	M1755K	probably damaging	Het
Ahnak2	A	T	12: 112,780,802	V70E		Het
AI837181	C	A	19: 5,426,434	S208R	probably damaging	Het
Akap2	G	T	4: 57,855,217	R182L	probably damaging	Het
Arhgap35	T	G	7: 16,561,727	M1138L	probably benign	Het
Card14	T	G	11: 119,337,747	L633R	probably damaging	Het
Carmil3	A	G	14: 55,493,895	T144A	probably benign	Het
Cbfa2t2	T	A	2: 154,515,975	N223K	probably benign	Het
Ccdc39	T	C	3: 33,830,105	I363V	probably benign	Het
Ccng2	C	G	5: 93,273,343	S237R	probably benign	Het
Ccpg1	G	T	9: 73,013,327	R741S	probably benign	Het
Cenpc1	A	G	5: 86,013,507	F855L	probably damaging	Het
Cenpc1	A	T	5: 86,032,418	M665K	probably benign	Het
Cp	A	G	3: 19,983,477	H832R	probably damaging	Het
Defa24	A	G	8: 21,734,549	I5V	probably benign	Het
Dmbt1	A	T	7: 131,066,621	I536F	unknown	Het
Dscam	G	A	16: 96,678,401	T1182I	probably benign	Het
Eea1	A	T	10: 96,018,138	I553F	probably damaging	Het
Far1	T	C	7: 113,561,447	V400A	probably benign	Het
Fbrsl1	A	T	5: 110,433,014	S126T	probably benign	Het
Frmpd2	A	T	14: 33,522,881	E552V	possibly damaging	Het
Gm5431	T	A	11: 48,888,410	T562S	probably benign	Het
Gm5475	T	C	15: 100,427,009	F106S	unknown	Het
Gpr12	T	C	5: 146,583,378	T245A	probably damaging	Het
Gsta2	A	G	9: 78,332,137	Y166H	probably benign	Het
H6pd	A	G	4: 149,982,912	V347A	probably benign	Het
Ifih1	T	C	2: 62,645,633	T100A	probably benign	Het
Itga2	C	T	13: 114,886,689	W59*	probably null	Het
Knstrn	T	A	2: 118,831,388		probably null	Het
Kprp	A	G	3: 92,823,871	V624A	probably damaging	Het
Lmbrd2	A	G	15: 9,194,684	Y591C	probably damaging	Het
Map7d1	A	G	4: 126,232,873	V842A	unknown	Het
Mboat2	A	T	12: 24,831,709	T4S	probably benign	Het
Mcph1	T	A	8: 18,607,272		probably null	Het
Mkl2	A	T	16: 13,401,034	M515L	possibly damaging	Het
Muc5b	A	G	7: 141,857,535	D1406G	unknown	Het
Mylk	G	A	16: 34,785,011	G3D	probably damaging	Het
Ndst4	A	G	3: 125,438,358	D192G	probably damaging	Het
Nemp1	G	T	10: 127,695,476	R361L	probably damaging	Het
Nol4	A	C	18: 23,039,789	V85G	probably benign	Het
Nrbf2	G	A	10: 67,267,826	T166M	probably damaging	Het
Obscn	T	C	11: 59,043,012	E5342G	probably damaging	Het
Olfr1180	C	T	2: 88,412,495	M54I	possibly damaging	Het
Olfr129	C	A	17: 38,055,551	C5F	probably damaging	Het
Olfr1317	T	A	2: 112,142,560	F205Y	probably damaging	Het
Olfr557	T	G	7: 102,699,045	L269R	probably damaging	Het
Olfr77	A	G	9: 19,920,335	N42S	possibly damaging	Het
Pde4dip	A	G	3: 97,766,959	S214P	probably damaging	Het
Per3	A	T	4: 151,031,936	C278*	probably null	Het
Pi4k2a	T	C	19: 42,090,686	L62P	probably damaging	Het
Plekha7	C	A	7: 116,181,212	G126W	probably damaging	Het
Ppp1r13b	T	C	12: 111,834,919	K567E	probably damaging	Het
Pradc1	T	A	6: 85,447,566	Q134L	probably benign	Het
Pwp2	A	G	10: 78,176,336	F628L	probably benign	Het
Rab5c	C	T	11: 100,716,102	G217D	probably benign	Het
Rad51ap2	G	T	12: 11,456,806	S243I	possibly damaging	Het
Rasgrp4	C	A	7: 29,148,430	R432S	probably damaging	Het
Rhot2	C	T	17: 25,842,428		probably null	Het
Scn2a	T	A	2: 65,763,769	L1654Q	probably damaging	Het
Skint6	A	T	4: 112,854,489		probably null	Het
Slc22a28	T	A	19: 8,117,127	T177S	probably benign	Het
Slc25a24	G	T	3: 109,158,644	Q272H	probably null	Het
Slc3a1	A	T	17: 85,032,445	I144F	probably damaging	Het
Smg9	C	T	7: 24,406,070	R176C	possibly damaging	Het
Sorl1	A	T	9: 42,037,203	L762Q	probably damaging	Het
Srebf2	C	A	15: 82,204,069	P1079T	probably benign	Het
Sub1	A	T	15: 11,993,851	S4T	probably benign	Het
Tacr1	A	T	6: 82,492,711	Y192F	probably benign	Het
Tm4sf19	A	T	16: 32,405,996	H54L	probably damaging	Het
Tnxb	T	C	17: 34,695,454	L1838P	probably damaging	Het
Trmt1l	T	C	1: 151,457,788	S681P	possibly damaging	Het
Ttc30b	A	G	2: 75,937,494	F305S	probably damaging	Het
Ttn	A	G	2: 76,907,832	V4167A	unknown	Het
Unc13d	T	A	11: 116,068,230	M702L	probably benign	Het
Vgll3	A	G	16: 65,839,518	H240R	probably benign	Het
Vmn1r189	C	G	13: 22,102,567	W33C	probably benign	Het
Vmn2r17	G	A	5: 109,428,471	A403T	possibly damaging	Het
Vmn2r2	G	A	3: 64,126,577	T508I	probably benign	Het
Vps54	T	A	11: 21,277,670		probably null	Het
Wfs1	G	A	5: 36,967,790	Q586*	probably null	Het
Zbp1	A	T	2: 173,213,872	H166Q	unknown	Het
Zcchc3	G	A	2: 152,414,374	A135V	probably benign	Het
Zfp51	T	C	17: 21,463,698	Y192H	probably benign	Het
Zkscan2	T	C	7: 123,489,771	T426A	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
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
R8988:Dlc1	UTSW	8	36572843	missense	probably damaging	0.96
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'- GTGGGTCATAAAAGTACTTCTCAAG -3'
(R):5'- AAAAGGTCGGGCTCTTCAG -3'

Sequencing Primer
(F):5'- GGATACAGTAAACCTATTACACACAC -3'
(R):5'- CTTCAGGAAGTCAGGTGTCAAATCC -3'

Posted On

2019-06-26