Mutagenetix > Incidental Mutation

Incidental Mutation 'R4285:Dlc1'

322031

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

041080-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4285 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36567751-36953143 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 36574128 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 1316 (E1316K)

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: E865K

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000033923
Gene: ENSMUSG00000031523
AA Change: E865K

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: E899K

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000096425
Gene: ENSMUSG00000031523
AA Change: E899K

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

possibly damaging
Transcript: ENSMUST00000163663
AA Change: E1316K

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000132812
Gene: ENSMUSG00000031523
AA Change: E1316K

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

0.1276

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

98% (42/43)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	T	C	6: 96,165,752	T104A	probably benign	Het
Agl	G	A	3: 116,752,178	S1323L	possibly damaging	Het
Ahnak	T	A	19: 9,016,839	C5162*	probably null	Het
Carmil3	GGACGA	GGA	14: 55,499,476		probably benign	Het
Cfap73	T	C	5: 120,632,589	K39E	possibly damaging	Het
Coq6	C	T	12: 84,370,404		probably benign	Het
Dscam	A	G	16: 96,709,109		probably null	Het
Eya2	T	A	2: 165,724,780	N250K	probably benign	Het
Fat4	A	G	3: 38,889,171	I738V	probably benign	Het
Gria2	T	G	3: 80,707,662		probably benign	Het
Hnrnph3	A	T	10: 63,016,468	D238E	probably damaging	Het
Il1rn	T	C	2: 24,349,545	L151P	probably damaging	Het
Kctd19	G	A	8: 105,382,949		probably benign	Het
Kdm1a	T	C	4: 136,582,036		probably null	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lamc1	C	A	1: 153,234,552	G1126W	probably damaging	Het
Magi3	C	A	3: 104,015,868	G1178*	probably null	Het
Man2a2	T	C	7: 80,368,619	D141G	probably damaging	Het
Map2k1	C	A	9: 64,212,643	V127L	probably damaging	Het
Memo1	T	C	17: 74,255,298		probably null	Het
Mxd3	A	G	13: 55,329,354	S31P	probably benign	Het
Myo5b	G	A	18: 74,714,849	E1053K	probably benign	Het
Olfr164	A	C	16: 19,285,964	F260V	probably damaging	Het
Olfr586	G	T	7: 103,122,660	Y37*	probably null	Het
Pex5l	A	G	3: 33,007,187	I171T	probably damaging	Het
Plag1	A	G	4: 3,905,654	V12A	probably benign	Het
Podn	C	A	4: 108,021,696	V180L	possibly damaging	Het
Prox2	T	A	12: 85,094,924	R168S	probably benign	Het
Prss29	A	G	17: 25,322,257	Y225C	probably damaging	Het
Rassf2	G	A	2: 132,005,394	T97I	probably benign	Het
Samm50	T	C	15: 84,197,012	V47A	probably damaging	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Slc20a2	G	A	8: 22,561,349	R466Q	probably benign	Het
Slc25a51	C	T	4: 45,399,768	V141M	probably benign	Het
St6galnac3	A	C	3: 153,206,723	V161G	probably benign	Het
Unc5c	T	C	3: 141,714,674	I52T	probably damaging	Het
Vat1l	A	G	8: 114,205,783	E23G	probably damaging	Het
Vmn2r91	A	G	17: 18,135,768	T566A	probably benign	Het
Wls	A	T	3: 159,934,266	H511L	probably benign	Het
Zfp644	G	A	5: 106,635,118	T1130I	probably damaging	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
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
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'- CTCAGTCATAGCCACAGGAACG -3'
(R):5'- TCCATGTCAGCCCTGTTGTG -3'

Sequencing Primer
(F):5'- CCAGGGAGAAGACTGACCTTC -3'
(R):5'- ATGTCAGCCCTGTTGTGAATAC -3'

Posted On

2015-06-20