Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02713:Stard13'

304664

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Stard13

Ensembl Gene

ENSMUSG00000016128

Gene Name

StAR-related lipid transfer (START) domain containing 13

Synonyms

GT650, DLC2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02713

Quality Score

Status

Chromosome

Chromosomal Location

151037510-151233836 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 151042186 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 935 (Q935*)

Ref Sequence

ENSEMBL: ENSMUSP00000144056 (fasta)

Gene Model

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

AlphaFold

Q923Q2

Predicted Effect

probably null
Transcript: ENSMUST00000062015
AA Change: Q1072*

SMART Domains

Protein: ENSMUSP00000053232
Gene: ENSMUSG00000016128
AA Change: Q1072*

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 null
Transcript: ENSMUST00000110483
AA Change: Q1053*

SMART Domains

Protein: ENSMUSP00000106109
Gene: ENSMUSG00000016128
AA Change: Q1053*

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 null
Transcript: ENSMUST00000202111
AA Change: Q935*

SMART Domains

Protein: ENSMUSP00000144056
Gene: ENSMUSG00000016128
AA Change: Q935*

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

Coding Region Coverage

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	C	A	1: 37,624,137	K893N	possibly damaging	Het
Acan	A	G	7: 79,100,244	T1588A	possibly damaging	Het
Apeh	A	T	9: 108,085,672	L700Q	probably damaging	Het
Arid1b	T	C	17: 5,343,011	I2272T	probably damaging	Het
Best3	T	G	10: 117,024,529	F565V	probably benign	Het
Birc6	A	G	17: 74,579,324	N521S	probably benign	Het
Cd209f	T	A	8: 4,103,732	R191S	probably benign	Het
Clec4e	A	T	6: 123,286,304	Y63*	probably null	Het
Cyp26c1	C	T	19: 37,693,219	T490M	probably damaging	Het
Cyp2b9	T	A	7: 26,173,520	H29Q	probably benign	Het
Cyp2d10	A	C	15: 82,406,082		probably benign	Het
Dgat1	C	A	15: 76,503,534	R291L	probably damaging	Het
Dyrk1a	C	A	16: 94,685,345		probably benign	Het
Esp4	T	C	17: 40,602,406	F55L	probably benign	Het
Fam227a	G	A	15: 79,636,796		probably benign	Het
Ggt1	T	C	10: 75,574,344	Y37H	probably damaging	Het
Grsf1	A	T	5: 88,672,730	I64K	probably damaging	Het
Itga6	C	T	2: 71,816,713	T89I	possibly damaging	Het
Jph2	T	C	2: 163,375,917	T280A	probably damaging	Het
Lipm	A	G	19: 34,101,170	M1V	probably null	Het
Nbeal1	C	T	1: 60,235,237	A513V	possibly damaging	Het
Olfr1491	A	T	19: 13,705,189	I121F	possibly damaging	Het
Olfr514	A	T	7: 108,825,594	M135K	probably damaging	Het
Olfr518	G	A	7: 108,880,853	T251I	probably damaging	Het
Olfr61	A	T	7: 140,637,916	I72F	probably damaging	Het
Olfr888	C	T	9: 38,109,327	P214S	probably damaging	Het
Olfr995	T	A	2: 85,438,637	I174F	probably damaging	Het
Orc6	A	G	8: 85,307,586	E146G	probably benign	Het
Patl2	A	G	2: 122,125,847	S179P	probably benign	Het
Pdzd8	C	A	19: 59,345,458	G44C	probably damaging	Het
Phox2b	A	G	5: 67,096,595		probably benign	Het
Ppp4r3b	T	G	11: 29,188,445	H264Q	probably damaging	Het
Ptprk	T	C	10: 28,592,811	I1409T	possibly damaging	Het
Pum1	T	A	4: 130,766,012	I842N	probably damaging	Het
Rnf123	G	A	9: 108,068,302	R390*	probably null	Het
Sgca	T	A	11: 94,971,305	N174Y	probably damaging	Het
Slc7a14	A	T	3: 31,257,763	L36Q	probably damaging	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Suds3	C	T	5: 117,094,905		probably null	Het
Sv2b	A	T	7: 75,124,163	L520Q	possibly damaging	Het
Tmem26	T	C	10: 68,751,295	F191S	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
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
R2131: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
R9708:Stard13	UTSW	5	151063496	missense	possibly damaging	0.82
R9771:Stard13	UTSW	5	151059583	missense	probably damaging	1.00
Z1177:Stard13	UTSW	5	151063334	missense	probably benign	0.18

Posted On

2015-04-16