Mutagenetix > Incidental Mutation

Incidental Mutation 'R2131:Stard13'

228071

Institutional Source

Beutler Lab

Gene Symbol

Stard13

Ensembl Gene

ENSMUSG00000016128

Gene Name

StAR-related lipid transfer (START) domain containing 13

Synonyms

GT650, DLC2

MMRRC Submission

040134-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2131 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

151037510-151233836 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 151045168 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 879 (Y879C)

Ref Sequence

ENSEMBL: ENSMUSP00000144056 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062015] [ENSMUST00000110483] [ENSMUST00000202111]

AlphaFold

Q923Q2

Predicted Effect

probably damaging
Transcript: ENSMUST00000062015
AA Change: Y1016C

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

SMART Domains

Protein: ENSMUSP00000053232
Gene: ENSMUSG00000016128
AA Change: Y1016C

Domain	Start	End	E-Value	Type
Pfam:SAM_2	59	120	2.6e-6	PFAM
low complexity region	197	216	N/A	INTRINSIC
low complexity region	322	340	N/A	INTRINSIC
low complexity region	473	486	N/A	INTRINSIC
low complexity region	612	624	N/A	INTRINSIC
RhoGAP	693	884	2.37e-50	SMART
START	927	1129	2.08e-40	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000110483
AA Change: Y997C

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

SMART Domains

Protein: ENSMUSP00000106109
Gene: ENSMUSG00000016128
AA Change: Y997C

Domain	Start	End	E-Value	Type
PDB:2JW2\|A	50	120	1e-37	PDB
low complexity region	197	216	N/A	INTRINSIC
low complexity region	322	340	N/A	INTRINSIC
low complexity region	473	486	N/A	INTRINSIC
low complexity region	612	624	N/A	INTRINSIC
RhoGAP	674	865	2.37e-50	SMART
START	908	1110	2.08e-40	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000202111
AA Change: Y879C

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

SMART Domains

Protein: ENSMUSP00000144056
Gene: ENSMUSG00000016128
AA Change: Y879C

Domain	Start	End	E-Value	Type
low complexity region	79	98	N/A	INTRINSIC
low complexity region	204	222	N/A	INTRINSIC
low complexity region	355	368	N/A	INTRINSIC
low complexity region	494	506	N/A	INTRINSIC
RhoGAP	556	747	1.4e-52	SMART
START	790	992	1.4e-42	SMART

Meta Mutation Damage Score

0.9120

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which contains an N-terminal sterile alpha motif (SAM) for protein-protein interactions, followed by an ATP/GTP-binding motif, a GTPase-activating protein (GAP) domain, and a C-terminal STAR-related lipid transfer (START) domain. It may be involved in regulation of cytoskeletal reorganization, cell proliferation, and cell motility, and acts as a tumor suppressor in hepatoma cells. The gene is located in a region of chromosome 13 that is associated with loss of heterozygosity in hepatocellular carcinomas. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit small body size, decreased weight, and reduced adipose tissue. Mice homozygous for another knock-out allele exhibit increased angiogenesis in matrigel plugs and implanted tumors. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 123 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	T	A	13: 63,210,149	C656S	probably benign	Het
4931408C20Rik	T	C	1: 26,685,854	R82G	probably benign	Het
9030624J02Rik	T	C	7: 118,794,575	Y516H	probably damaging	Het
A2ml1	T	A	6: 128,576,260	N178I	probably damaging	Het
Acvr2b	A	G	9: 119,432,808	R437G	probably damaging	Het
Adamtsl3	C	A	7: 82,578,594	A1329E	probably damaging	Het
Adgrl2	T	C	3: 148,890,488	I71V	probably damaging	Het
Adra1a	A	T	14: 66,727,532	I324F	possibly damaging	Het
Akap13	G	T	7: 75,611,434	A1269S	probably benign	Het
Ampd1	G	T	3: 103,094,878		probably null	Het
Ankrd16	T	A	2: 11,783,695	D211E	probably damaging	Het
Aox3	A	G	1: 58,169,843	H845R	probably damaging	Het
Apc	C	A	18: 34,312,045	Q665K	possibly damaging	Het
Arap2	T	C	5: 62,677,958	N747S	probably damaging	Het
Arsk	A	T	13: 76,091,812	C47*	probably null	Het
Atp8b5	T	A	4: 43,370,726	F1001I	probably benign	Het
Bap1	T	A	14: 31,258,331	Y645*	probably null	Het
Brca2	A	G	5: 150,557,129	Y2760C	probably damaging	Het
Cad	T	A	5: 31,058,072	F76I	probably damaging	Het
Capn9	G	A	8: 124,605,711	G430R	possibly damaging	Het
Ccdc27	TTCCTCCTCCTCCTCCTCCTC	TTCCTCCTCCTCCTCCTC	4: 154,036,306		probably benign	Het
Cdkn2c	A	C	4: 109,665,063	N28K	probably null	Het
Celsr1	T	A	15: 85,963,223	I1438F	probably benign	Het
Cfhr2	T	G	1: 139,831,155	R52S	probably benign	Het
Cldn1	G	C	16: 26,371,550	A26G	probably damaging	Het
Col20a1	T	A	2: 180,992,573	F110L	probably damaging	Het
Creg2	T	C	1: 39,624,978	N204S	probably benign	Het
Cx3cl1	C	A	8: 94,779,573	Q69K	probably benign	Het
Cyfip2	T	C	11: 46,286,131	E74G	possibly damaging	Het
Cyp2g1	A	T	7: 26,820,710	I456F	probably damaging	Het
Dapk1	A	G	13: 60,729,531	E528G	possibly damaging	Het
Dapk1	T	A	13: 60,761,667	W1365R	possibly damaging	Het
Dbt	T	A	3: 116,539,124	D16E	probably damaging	Het
Depdc5	T	A	5: 32,990,781	L1469*	probably null	Het
Dnah3	T	A	7: 119,967,759	T2415S	possibly damaging	Het
Dnmbp	A	G	19: 43,854,311	L1210S	probably damaging	Het
Dpyd	T	C	3: 118,674,568	V77A	probably benign	Het
Eps15l1	A	T	8: 72,386,868	V260D	probably benign	Het
Eya1	A	G	1: 14,170,974	V573A	probably benign	Het
Fam171b	T	A	2: 83,879,858	S625T	probably damaging	Het
Fam186a	T	C	15: 99,933,676		probably benign	Het
Fam208a	A	G	14: 27,476,614	N1301S	possibly damaging	Het
Gabra4	G	T	5: 71,641,224	D137E	probably benign	Het
Gatsl2	G	A	5: 134,136,153	C187Y	probably damaging	Het
Gemin4	G	C	11: 76,211,050	P962A	probably damaging	Het
Gm43302	T	C	5: 105,274,744	D474G	probably damaging	Het
Golim4	A	T	3: 75,908,149	V116D	probably damaging	Het
Gpr19	T	C	6: 134,870,442	M1V	probably null	Het
Hnf4a	T	A	2: 163,547,418	N29K	probably benign	Het
Htt	A	G	5: 34,877,109	R1975G	possibly damaging	Het
Ift20	G	A	11: 78,540,034	E68K	probably damaging	Het
Il4i1	G	A	7: 44,840,070	V420M	probably damaging	Het
Insrr	G	A	3: 87,810,572		probably null	Het
Ipo9	ATCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTCCTC	1: 135,386,268		probably benign	Het
Ipo9	A	G	1: 135,402,250	V484A	probably benign	Het
Jmjd4	A	T	11: 59,454,955	H287L	probably damaging	Het
Kcnj13	A	G	1: 87,386,534	V322A	probably benign	Het
Kdm5d	T	C	Y: 941,483	L1228P	probably benign	Het
Klra3	A	G	6: 130,335,775	S9P	probably benign	Het
Ldhd	C	T	8: 111,628,537		probably null	Het
Lmo2	T	C	2: 103,981,062	Y147H	probably damaging	Het
Lmo7	A	T	14: 101,900,238	D670V	probably damaging	Het
Lmtk2	C	T	5: 144,174,988	T842I	possibly damaging	Het
Lrp5	T	C	19: 3,622,708	T534A	possibly damaging	Het
Lrrc24	A	T	15: 76,715,581	F453I	possibly damaging	Het
Magel2	A	T	7: 62,377,738	H130L	unknown	Het
Mcpt8	T	C	14: 56,082,283	I237V	probably damaging	Het
Med4	A	G	14: 73,517,996	N248S	possibly damaging	Het
Mest	C	T	6: 30,745,885	L269F	probably damaging	Het
Mib2	C	T	4: 155,655,238		probably null	Het
Mki67	T	A	7: 135,704,241		probably null	Het
Mnx1	T	A	5: 29,474,189	S299C	unknown	Het
Nbr1	T	A	11: 101,566,191		probably null	Het
Ncapd3	T	G	9: 27,083,346	V1174G	probably damaging	Het
Nyap1	A	C	5: 137,733,681		probably null	Het
Olfml3	T	A	3: 103,735,869	M399L	probably benign	Het
Olfr341	A	G	2: 36,480,047	S28P	possibly damaging	Het
Olfr775	T	C	10: 129,251,074	F180S	probably benign	Het
Oosp1	T	C	19: 11,690,950	D23G	probably damaging	Het
Optc	A	T	1: 133,903,796		probably null	Het
Osbpl6	T	A	2: 76,586,214	I546K	probably damaging	Het
Otog	A	T	7: 46,250,100	N275I	probably damaging	Het
Pcdhb14	C	A	18: 37,447,870	Q10K	probably benign	Het
Pcx	T	C	19: 4,602,551	F189L	probably benign	Het
Pde6b	A	G	5: 108,428,203	D718G	probably damaging	Het
Pklr	C	A	3: 89,142,660	P314Q	probably damaging	Het
Plcb1	T	A	2: 135,325,667	Y460*	probably null	Het
Plekha6	C	A	1: 133,279,365		probably null	Het
Plekho1	A	G	3: 95,989,117	S347P	probably damaging	Het
Plxna2	G	A	1: 194,644,750	D331N	probably benign	Het
Prelp	C	T	1: 133,915,131	R92K	probably benign	Het
Prkra	A	T	2: 76,647,136	I75K	probably damaging	Het
Ptpn11	G	A	5: 121,172,026	A31V	probably damaging	Het
Pzp	T	C	6: 128,491,161		probably null	Het
Rbm12	A	T	2: 156,095,510	C947*	probably null	Het
Ren1	C	G	1: 133,350,778		probably null	Het
Sarm1	A	T	11: 78,475,307	C649S	probably benign	Het
Sept12	T	A	16: 4,991,779	Q223L	probably damaging	Het
Sept4	A	T	11: 87,583,436	Q60L	probably benign	Het
Slc22a21	A	T	11: 53,979,733	L42Q	probably damaging	Het
Slc44a1	GCCC	GCCCCCCC	4: 53,563,246		probably null	Het
Slc9a4	T	G	1: 40,607,741		probably null	Het
Sort1	T	A	3: 108,351,686	F678Y	probably benign	Het
Spag6	T	A	2: 18,733,097	C259*	probably null	Het
Stk24	A	T	14: 121,302,211	I191N	probably damaging	Het
Tacc1	A	T	8: 25,164,493	N271K	probably damaging	Het
Tacc2	T	A	7: 130,621,857	S91T	possibly damaging	Het
Tacr3	T	C	3: 134,932,180	V366A	probably benign	Het
Tbccd1	A	G	16: 22,841,989	S26P	probably benign	Het
Tecpr1	T	A	5: 144,208,645	T595S	probably benign	Het
Tjp3	T	A	10: 81,278,054	M457L	possibly damaging	Het
Tor1aip2	A	G	1: 156,065,349	Y467C	probably damaging	Het
Trove2	T	C	1: 143,760,034	D458G	probably benign	Het
Ttc9b	T	A	7: 27,654,349		probably null	Het
Tti1	T	C	2: 158,000,743	R789G	probably benign	Het
Ttn	A	T	2: 76,832,217		probably null	Het
Txk	T	A	5: 72,696,579	T472S	probably damaging	Het
Ube2cbp	A	T	9: 86,372,487		probably null	Het
Vav2	C	A	2: 27,299,396	R176L	possibly damaging	Het
Wdr27	T	A	17: 14,928,332	D133V	probably damaging	Het
Zc3h7a	A	T	16: 11,150,605	Y503*	probably null	Het
Zdhhc13	T	A	7: 48,824,644	L548Q	possibly damaging	Het
Zfp467	A	C	6: 48,442,661	S38A	probably damaging	Het

Other mutations in Stard13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00639:Stard13	APN	5	151042239	missense	probably damaging	1.00
IGL01362:Stard13	APN	5	151189952	missense	probably benign	0.05
IGL01588:Stard13	APN	5	151045237	missense	probably damaging	1.00
IGL01947:Stard13	APN	5	151062844	missense	probably damaging	1.00
IGL02294:Stard13	APN	5	151063115	missense	probably benign	0.19
IGL02713:Stard13	APN	5	151042186	nonsense	probably null
IGL02746:Stard13	APN	5	151046857	splice site	probably benign
IGL02827:Stard13	APN	5	151063126	missense	probably benign	0.07
R0498:Stard13	UTSW	5	151052477	missense	probably damaging	1.00
R1427:Stard13	UTSW	5	151045991	missense	probably damaging	0.99
R1785:Stard13	UTSW	5	151045168	missense	probably damaging	1.00
R1857:Stard13	UTSW	5	151095438	missense	probably damaging	1.00
R1858:Stard13	UTSW	5	151095438	missense	probably damaging	1.00
R2130:Stard13	UTSW	5	151045168	missense	probably damaging	1.00
R2132:Stard13	UTSW	5	151045168	missense	probably damaging	1.00
R2133:Stard13	UTSW	5	151045168	missense	probably damaging	1.00
R2258:Stard13	UTSW	5	151039731	missense	probably damaging	1.00
R3435:Stard13	UTSW	5	151042179	missense	probably damaging	1.00
R4080:Stard13	UTSW	5	151092829	critical splice acceptor site	probably null
R4081:Stard13	UTSW	5	151092829	critical splice acceptor site	probably null
R4082:Stard13	UTSW	5	151092829	critical splice acceptor site	probably null
R4233:Stard13	UTSW	5	151062699	missense	probably benign	0.00
R4288:Stard13	UTSW	5	151045177	missense	probably damaging	1.00
R4303:Stard13	UTSW	5	151062869	missense	possibly damaging	0.82
R4659:Stard13	UTSW	5	151062788	missense	probably benign	0.01
R4695:Stard13	UTSW	5	151060815	missense	probably benign	0.08
R4910:Stard13	UTSW	5	151062527	missense	probably benign
R5135:Stard13	UTSW	5	151062767	nonsense	probably null
R5338:Stard13	UTSW	5	151059598	missense	probably damaging	1.00
R5399:Stard13	UTSW	5	151047801	nonsense	probably null
R5546:Stard13	UTSW	5	151045901	missense	probably benign	0.03
R5685:Stard13	UTSW	5	151063127	missense	possibly damaging	0.78
R5771:Stard13	UTSW	5	151190011	missense	probably damaging	1.00
R6034:Stard13	UTSW	5	151095500	splice site	probably null
R6034:Stard13	UTSW	5	151095500	splice site	probably null
R6141:Stard13	UTSW	5	151042242	missense	probably damaging	1.00
R6171:Stard13	UTSW	5	151092762	missense	probably damaging	1.00
R6296:Stard13	UTSW	5	151062673	missense	probably damaging	1.00
R6326:Stard13	UTSW	5	151046919	missense	possibly damaging	0.95
R6508:Stard13	UTSW	5	151063289	missense	probably benign	0.06
R7252:Stard13	UTSW	5	151063169	missense	probably benign	0.01
R7318:Stard13	UTSW	5	151062573	nonsense	probably null
R7459:Stard13	UTSW	5	151047599	missense	probably damaging	1.00
R7571:Stard13	UTSW	5	151059502	missense	probably damaging	0.97
R7696:Stard13	UTSW	5	151060802	missense	probably damaging	0.99
R7809:Stard13	UTSW	5	151190024	missense	probably damaging	0.98
R7962:Stard13	UTSW	5	151052373	missense	probably damaging	0.99
R7970:Stard13	UTSW	5	151063261	missense	possibly damaging	0.83
R8103:Stard13	UTSW	5	151046970	missense	possibly damaging	0.92
R8113:Stard13	UTSW	5	151063505	missense	probably damaging	0.99
R8263:Stard13	UTSW	5	151233641	missense	possibly damaging	0.81
R8392:Stard13	UTSW	5	151042162	missense	probably benign	0.24
R8490:Stard13	UTSW	5	151063625	missense	probably damaging	1.00
R8726:Stard13	UTSW	5	151063142	missense	probably benign	0.28
R8896:Stard13	UTSW	5	151062650	missense	probably damaging	1.00
R8939:Stard13	UTSW	5	151045109	critical splice donor site	probably null
R8946:Stard13	UTSW	5	151060802	missense	probably damaging	1.00
R9157:Stard13	UTSW	5	151233687	missense	probably benign	0.00
R9257:Stard13	UTSW	5	151062491	missense	probably benign
R9387:Stard13	UTSW	5	151190018	missense	probably benign	0.27
R9586:Stard13	UTSW	5	151062367	missense	possibly damaging	0.90
Z1177:Stard13	UTSW	5	151063334	missense	probably benign	0.18

Predicted Primers

PCR Primer
(F):5'- CTATAAATTGGGTGAAGGTGCCAG -3'
(R):5'- AGTGATGGTTTGGAATGCCC -3'

Sequencing Primer
(F):5'- GTCAGGCATAAATAAGGCAACATC -3'
(R):5'- CCCAGCATAGGAGGTAGGTCTG -3'

Posted On

2014-09-17