Mutagenetix > Incidental Mutation

Incidental Mutation 'R8887:Dlc1'

677407

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 #

R8887 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36567751-36953143 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36584327 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 299 (V299E)

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 benign
Transcript: ENSMUST00000033923
AA Change: V299E

PolyPhen 2 Score 0.341 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000033923
Gene: ENSMUSG00000031523
AA Change: V299E

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

possibly damaging
Transcript: ENSMUST00000098826
AA Change: V333E

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000096425
Gene: ENSMUSG00000031523
AA Change: V333E

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

possibly damaging
Transcript: ENSMUST00000163663
AA Change: V750E

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000132812
Gene: ENSMUSG00000031523
AA Change: V750E

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: 98.5%

Validation Efficiency

98% (93/95)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	G	T	3: 37,033,354	A615S	possibly damaging	Het
Acsbg2	T	C	17: 56,868,285	T76A	probably benign	Het
Actn1	A	G	12: 80,168,423	C860R	probably damaging	Het
Adam23	T	A	1: 63,515,585	L170Q	probably damaging	Het
Afdn	C	T	17: 13,896,139	R1620*	probably null	Het
Agfg1	A	G	1: 82,870,804		probably benign	Het
Aire	A	G	10: 78,034,464	S476P	probably damaging	Het
Arhgef26	A	G	3: 62,339,980	T162A	probably benign	Het
Atp1a2	T	C	1: 172,285,655	Q487R	probably null	Het
BC048507	T	A	13: 67,863,509	C2S	probably benign	Het
Bnc2	A	C	4: 84,291,470		probably benign	Het
Bop1	C	T	15: 76,454,324	G473R	probably damaging	Het
C1galt1	A	G	6: 7,866,379	E75G	probably benign	Het
Cacna1i	T	C	15: 80,374,693	V1201A	possibly damaging	Het
Cecr2	C	A	6: 120,738,201	T249K	probably damaging	Het
Clca2	C	A	3: 145,085,049	G421*	probably null	Het
Clec1b	A	T	6: 129,401,740		probably null	Het
Cnksr3	C	T	10: 7,154,467	D79N	probably damaging	Het
Col15a1	A	G	4: 47,287,091	Q843R	probably damaging	Het
Col6a3	T	C	1: 90,828,226	S114G	probably benign	Het
Corin	A	T	5: 72,329,610		probably null	Het
Cyp2u1	A	G	3: 131,302,854	Y92H	probably damaging	Het
Dcbld2	T	C	16: 58,408,907	L51P	probably damaging	Het
Dip2c	T	A	13: 9,623,953		probably benign	Het
Dlgap2	G	A	8: 14,179,682		probably null	Het
Dnah1	A	G	14: 31,311,040	L346P	probably damaging	Het
Dnah9	T	C	11: 65,855,384	T3968A	probably benign	Het
Duox2	A	C	2: 122,289,563	M822R	probably null	Het
E2f7	A	T	10: 110,774,813	Q433L	probably benign	Het
Eif3k	A	C	7: 28,980,476	Y42*	probably null	Het
Elmod3	A	G	6: 72,586,511	S45P	probably damaging	Het
Emilin3	C	A	2: 160,909,188	V214F	possibly damaging	Het
Fbxo10	A	T	4: 45,058,887	F283L	probably benign	Het
Fbxw7	T	C	3: 84,969,242	Y358H		Het
G430095P16Rik	A	G	8: 84,726,414	N10S	unknown	Het
Gldc	A	G	19: 30,133,756	V540A	possibly damaging	Het
Gm13084	A	G	4: 143,812,687	F79L	probably damaging	Het
Gm3667	T	A	14: 6,874,222	E67D	probably benign	Het
Golga3	T	A	5: 110,205,760		probably benign	Het
H60c	T	C	10: 3,267,255	E38G	probably benign	Het
Hectd4	A	G	5: 121,295,478	D952G	probably benign	Het
Hoxb8	T	A	11: 96,284,397	L220Q	probably damaging	Het
Ice1	A	T	13: 70,602,931	L1679M	probably damaging	Het
Ifi202b	T	A	1: 173,974,914	Y118F	probably damaging	Het
Ift122	A	T	6: 115,891,919	T456S	probably benign	Het
Ighg3	G	A	12: 113,360,225	T181I		Het
Ighv1-66	C	A	12: 115,593,412	V17F	probably damaging	Het
Ighv5-12-4	A	G	12: 113,762,510	V31A	possibly damaging	Het
Ints12	T	A	3: 133,109,242	N403K	probably damaging	Het
Itpr3	G	A	17: 27,118,677		probably benign	Het
Kalrn	A	C	16: 34,227,126	N908K	probably benign	Het
Kctd9	G	A	14: 67,724,567	V20I	unknown	Het
Krt78	G	T	15: 101,953,311	L167M	probably damaging	Het
Ldb1	T	C	19: 46,034,855	E206G	probably damaging	Het
Lig1	A	G	7: 13,296,787	Y455C	probably damaging	Het
Ltbp1	T	G	17: 75,179,082	I34S	probably damaging	Het
Map2	T	C	1: 66,415,599	I1216T	possibly damaging	Het
Mex3c	T	C	18: 73,573,729	V229A	probably damaging	Het
Mfsd11	T	C	11: 116,854,700		probably null	Het
Mroh1	A	G	15: 76,447,274	T1233A	probably benign	Het
Myct1	C	T	10: 5,604,208	T25I	probably damaging	Het
Nipbl	A	T	15: 8,361,787	H234Q	probably damaging	Het
Npc1l1	G	A	11: 6,225,665	P549S	probably damaging	Het
Olfr102	A	T	17: 37,313,751	L211Q	probably damaging	Het
Olfr1264	A	G	2: 90,021,925	V47A	probably benign	Het
Olfr153	A	G	2: 87,532,843	D270G	possibly damaging	Het
Olfr190	A	T	16: 59,074,483	V199D	possibly damaging	Het
Olfr803	A	T	10: 129,691,503	Y179*	probably null	Het
Padi3	A	T	4: 140,796,484	C228*	probably null	Het
Palld	T	A	8: 61,533,478	D1015V	unknown	Het
Pcna-ps2	A	T	19: 9,284,124	Y249F	probably benign	Het
Pelo	C	T	13: 115,088,915	C258Y	probably benign	Het
Ppp1r13b	A	T	12: 111,836,996		probably benign	Het
Prdm2	A	G	4: 143,134,201	W840R	probably damaging	Het
Prkcg	A	G	7: 3,322,341	D428G	possibly damaging	Het
Pus7	G	A	5: 23,743,478	R571*	probably null	Het
Rab11fip3	A	G	17: 26,067,953	C409R	possibly damaging	Het
Rdh13	T	C	7: 4,431,523	D186G	probably damaging	Het
Rslcan18	T	A	13: 67,098,729	H273L	probably damaging	Het
Rxfp1	T	A	3: 79,651,982		probably benign	Het
Sh3bp1	T	A	15: 78,904,340		probably null	Het
Siglecg	T	A	7: 43,408,584	S9T	probably benign	Het
Slc9a1	T	C	4: 133,411,947	F159L	probably benign	Het
Slc9a2	A	G	1: 40,718,849	I183V	probably benign	Het
St6galnac4	A	G	2: 32,594,098	M103V	probably damaging	Het
Tbc1d30	T	C	10: 121,351,154	D42G	possibly damaging	Het
Tlr5	C	A	1: 182,973,767	T212K	probably benign	Het
Trim43b	T	G	9: 89,087,589	I269L	probably benign	Het
Ttll6	T	C	11: 96,156,666	L697P	possibly damaging	Het
Ttn	T	G	2: 76,718,895	T31813P	probably damaging	Het
Ttn	A	T	2: 76,741,588	D26320E	probably damaging	Het
Uba6	A	G	5: 86,159,202		probably null	Het
Usp1	C	G	4: 98,930,948	Q216E	probably benign	Het
Vcan	T	C	13: 89,704,907	T645A	probably benign	Het
Wdr64	C	A	1: 175,772,284	P559H	probably benign	Het
Zfat	T	C	15: 68,184,466	Y247C	probably damaging	Het
Zfp979	A	T	4: 147,613,762	N163K	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
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
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'- GTAGAACACCGTGTCCTCTG -3'
(R):5'- TCAAACGCATGGAGAGCCTG -3'

Sequencing Primer
(F):5'- AACACCGTGTCCTCTGGGTAG -3'
(R):5'- TGAAGCTCAAGGGCTCCCAC -3'

Posted On

2021-08-02