Mutagenetix > Incidental Mutation

Incidental Mutation 'R7462:Dlc1'

578508

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 #

R7462 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36567751-36953143 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 36937964 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 224 (T224S)

Ref Sequence

ENSEMBL: ENSMUSP00000132812 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000163663] [ENSMUST00000179501]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000163663
AA Change: T224S

SMART Domains

Protein: ENSMUSP00000132812
Gene: ENSMUSG00000031523
AA Change: T224S

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

probably benign
Transcript: ENSMUST00000179501

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (60/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank2	G	C	3: 126,943,034	T3067S	unknown	Het
Ankrd28	T	C	14: 31,778,929	N35S	probably benign	Het
Bicra	A	T	7: 15,979,135	S996T	possibly damaging	Het
Btbd7	T	C	12: 102,837,722	E353G	possibly damaging	Het
Ccdc144b	T	A	3: 36,025,906		probably null	Het
Cdhr2	A	T	13: 54,726,739	I875F	probably damaging	Het
Ceacam5	A	T	7: 17,760,839	Y924F	probably damaging	Het
Clca4b	A	G	3: 144,922,860	I362T	probably benign	Het
Dchs2	A	G	3: 83,346,155		probably null	Het
Dmxl2	T	C	9: 54,366,632		probably null	Het
Dnajc1	A	G	2: 18,308,899	F137S	probably damaging	Het
E130311K13Rik	T	C	3: 63,929,301	T24A	probably benign	Het
Eya1	T	C	1: 14,231,414	E317G	probably null	Het
Fpr-rs6	A	G	17: 20,182,223	L292P	probably damaging	Het
Gca	G	T	2: 62,672,409	D54Y	possibly damaging	Het
Gm45861	G	A	8: 27,534,489		probably null	Het
Gm9573	T	C	17: 35,620,676	S873G	unknown	Het
Gtf2a1l	A	G	17: 88,694,138	T141A	possibly damaging	Het
Hgsnat	T	C	8: 25,957,213	N351S	probably benign	Het
Htr1f	A	T	16: 64,926,020	V303E	probably damaging	Het
Iars2	C	A	1: 185,322,866	W302L	probably damaging	Het
Igkv4-74	T	A	6: 69,185,116	Q23L	possibly damaging	Het
Il18	A	T	9: 50,565,373		probably benign	Het
Ints4	A	G	7: 97,506,128	D329G	probably benign	Het
Itsn1	T	C	16: 91,853,185	F249S	possibly damaging	Het
Ktn1	A	G	14: 47,694,632	E672G	probably null	Het
Lhx6	A	G	2: 36,084,071	I359T	possibly damaging	Het
Lrp1b	T	C	2: 41,113,029	E2030G		Het
Macf1	T	A	4: 123,492,763	K1114N	probably damaging	Het
Mbd5	A	G	2: 49,257,880	M701V	possibly damaging	Het
Mcemp1	A	T	8: 3,667,065	M69L	probably benign	Het
Mfsd4b2	T	A	10: 39,921,881	K159N	probably benign	Het
Mroh2b	T	A	15: 4,908,627	D243E	probably damaging	Het
Mug1	A	T	6: 121,875,440	Q829L	probably benign	Het
Nav3	A	T	10: 109,823,578	V726E	probably damaging	Het
Nfib	T	C	4: 82,353,589	Q247R	probably benign	Het
Npbwr1	T	C	1: 5,916,932	N121S	probably damaging	Het
Olfr187	A	T	16: 59,036,016	C240*	probably null	Het
Olfr378	T	C	11: 73,425,470	D171G	probably benign	Het
Olfr691	T	A	7: 105,337,500	D72V	probably damaging	Het
Pkd1l3	A	G	8: 109,628,777	S726G	probably benign	Het
Ppip5k1	A	T	2: 121,336,751	V847D	probably damaging	Het
Ptpn18	G	A	1: 34,473,364	D417N	possibly damaging	Het
Ripor2	G	A	13: 24,696,307	V385M	unknown	Het
Rufy1	C	T	11: 50,407,828	V379M	possibly damaging	Het
S100a5	A	G	3: 90,609,900	K26R	probably damaging	Het
Sin3a	T	C	9: 57,095,525	S234P	probably benign	Het
Sirt7	G	A	11: 120,620,792	T225I	probably benign	Het
Slc17a2	A	T	13: 23,822,418	T476S	probably damaging	Het
Slc38a6	T	A	12: 73,350,577	M331K	probably benign	Het
Spam1	T	C	6: 24,796,908	I286T	probably damaging	Het
Syne1	T	A	10: 5,052,793	I214F	possibly damaging	Het
Tmtc1	A	G	6: 148,325,145	L427P	probably damaging	Het
Tpbg	G	A	9: 85,844,850	A291T	possibly damaging	Het
Zfp40	A	G	17: 23,178,388	F45S	possibly damaging	Het
Zfp451	C	T	1: 33,777,013	V619M	probably damaging	Het
Zim1	A	G	7: 6,677,812	L284P	probably damaging	Het
Zkscan4	A	G	13: 21,483,874	E165G	probably benign	Het
Zmynd11	T	A	13: 9,698,684	N154Y	probably benign	Het
Zscan12	A	T	13: 21,369,287	H427L	possibly 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
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'- GGCAGCCCTCTGTCTACATAAG -3'
(R):5'- TGTCCACCATGCAAAGTAGC -3'

Sequencing Primer
(F):5'- CATAAGGAGCTGCTAAGACGTCTTC -3'
(R):5'- TTCTCATAACACCTGGAGGATGGC -3'

Posted On

2019-10-07