Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01588:Stard13'

91502

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Stard13

Ensembl Gene

ENSMUSG00000016128

Gene Name

StAR related lipid transfer domain containing 13

Synonyms

GT650, DLC2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01588

Quality Score

Status

Chromosome

Chromosomal Location

150960975-151157301 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 150968702 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 856 (R856H)

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: R993H

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

SMART Domains

Protein: ENSMUSP00000053232
Gene: ENSMUSG00000016128
AA Change: R993H

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: R974H

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

SMART Domains

Protein: ENSMUSP00000106109
Gene: ENSMUSG00000016128
AA Change: R974H

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: R856H

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

SMART Domains

Protein: ENSMUSP00000144056
Gene: ENSMUSG00000016128
AA Change: R856H

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aspm	T	A	1: 139,405,900 (GRCm39)	S1596T	probably benign	Het
Atp10b	G	A	11: 43,063,548 (GRCm39)	R161H	probably benign	Het
Csn2	T	C	5: 87,842,508 (GRCm39)	H165R	probably benign	Het
Dido1	A	G	2: 180,330,668 (GRCm39)	V260A	probably benign	Het
Ece1	C	T	4: 137,684,517 (GRCm39)		probably benign	Het
Garem1	T	G	18: 21,262,854 (GRCm39)	R653S	probably damaging	Het
Gpatch2	A	T	1: 186,962,991 (GRCm39)	S261C	probably damaging	Het
Ing4	A	G	6: 125,020,949 (GRCm39)	N24D	possibly damaging	Het
Klhdc7a	A	T	4: 139,694,257 (GRCm39)	V230D	probably damaging	Het
Ly96	G	A	1: 16,779,678 (GRCm39)	V116I	probably benign	Het
Myom1	C	T	17: 71,424,432 (GRCm39)	T1427M	possibly damaging	Het
Nedd1	C	A	10: 92,522,124 (GRCm39)	V638L	probably benign	Het
Or52d3	C	T	7: 104,229,150 (GRCm39)	S99F	probably damaging	Het
Or5d35	T	C	2: 87,855,417 (GRCm39)	V117A	probably benign	Het
Or8g30	G	A	9: 39,230,128 (GRCm39)	Q261*	probably null	Het
Pbx2	T	C	17: 34,814,592 (GRCm39)		probably benign	Het
Phlpp1	A	T	1: 106,308,119 (GRCm39)	H1132L	probably damaging	Het
Plpp5	T	A	8: 26,214,195 (GRCm39)	H237Q	probably damaging	Het
Sult1e1	T	C	5: 87,724,102 (GRCm39)	K285R	probably benign	Het
Ubxn8	C	T	8: 34,111,587 (GRCm39)	V269M	probably damaging	Het
Usp29	A	T	7: 6,965,610 (GRCm39)	K484N	probably benign	Het
Whrn	C	T	4: 63,391,015 (GRCm39)	V80M	probably damaging	Het
Znhit6	A	G	3: 145,301,962 (GRCm39)		probably benign	Het

Other mutations in Stard13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00639:Stard13	APN	5	150,965,704 (GRCm39)	missense	probably damaging	1.00
IGL01362:Stard13	APN	5	151,113,417 (GRCm39)	missense	probably benign	0.05
IGL01947:Stard13	APN	5	150,986,309 (GRCm39)	missense	probably damaging	1.00
IGL02294:Stard13	APN	5	150,986,580 (GRCm39)	missense	probably benign	0.19
IGL02713:Stard13	APN	5	150,965,651 (GRCm39)	nonsense	probably null
IGL02746:Stard13	APN	5	150,970,322 (GRCm39)	splice site	probably benign
IGL02827:Stard13	APN	5	150,986,591 (GRCm39)	missense	probably benign	0.07
R0498:Stard13	UTSW	5	150,975,942 (GRCm39)	missense	probably damaging	1.00
R1427:Stard13	UTSW	5	150,969,456 (GRCm39)	missense	probably damaging	0.99
R1785:Stard13	UTSW	5	150,968,633 (GRCm39)	missense	probably damaging	1.00
R1857:Stard13	UTSW	5	151,018,903 (GRCm39)	missense	probably damaging	1.00
R1858:Stard13	UTSW	5	151,018,903 (GRCm39)	missense	probably damaging	1.00
R2130:Stard13	UTSW	5	150,968,633 (GRCm39)	missense	probably damaging	1.00
R2131:Stard13	UTSW	5	150,968,633 (GRCm39)	missense	probably damaging	1.00
R2132:Stard13	UTSW	5	150,968,633 (GRCm39)	missense	probably damaging	1.00
R2133:Stard13	UTSW	5	150,968,633 (GRCm39)	missense	probably damaging	1.00
R2258:Stard13	UTSW	5	150,963,196 (GRCm39)	missense	probably damaging	1.00
R3435:Stard13	UTSW	5	150,965,644 (GRCm39)	missense	probably damaging	1.00
R4080:Stard13	UTSW	5	151,016,294 (GRCm39)	critical splice acceptor site	probably null
R4081:Stard13	UTSW	5	151,016,294 (GRCm39)	critical splice acceptor site	probably null
R4082:Stard13	UTSW	5	151,016,294 (GRCm39)	critical splice acceptor site	probably null
R4233:Stard13	UTSW	5	150,986,164 (GRCm39)	missense	probably benign	0.00
R4288:Stard13	UTSW	5	150,968,642 (GRCm39)	missense	probably damaging	1.00
R4303:Stard13	UTSW	5	150,986,334 (GRCm39)	missense	possibly damaging	0.82
R4659:Stard13	UTSW	5	150,986,253 (GRCm39)	missense	probably benign	0.01
R4695:Stard13	UTSW	5	150,984,280 (GRCm39)	missense	probably benign	0.08
R4910:Stard13	UTSW	5	150,985,992 (GRCm39)	missense	probably benign
R5135:Stard13	UTSW	5	150,986,232 (GRCm39)	nonsense	probably null
R5338:Stard13	UTSW	5	150,983,063 (GRCm39)	missense	probably damaging	1.00
R5399:Stard13	UTSW	5	150,971,266 (GRCm39)	nonsense	probably null
R5546:Stard13	UTSW	5	150,969,366 (GRCm39)	missense	probably benign	0.03
R5685:Stard13	UTSW	5	150,986,592 (GRCm39)	missense	possibly damaging	0.78
R5771:Stard13	UTSW	5	151,113,476 (GRCm39)	missense	probably damaging	1.00
R6034:Stard13	UTSW	5	151,018,965 (GRCm39)	splice site	probably null
R6034:Stard13	UTSW	5	151,018,965 (GRCm39)	splice site	probably null
R6141:Stard13	UTSW	5	150,965,707 (GRCm39)	missense	probably damaging	1.00
R6171:Stard13	UTSW	5	151,016,227 (GRCm39)	missense	probably damaging	1.00
R6296:Stard13	UTSW	5	150,986,138 (GRCm39)	missense	probably damaging	1.00
R6326:Stard13	UTSW	5	150,970,384 (GRCm39)	missense	possibly damaging	0.95
R6508:Stard13	UTSW	5	150,986,754 (GRCm39)	missense	probably benign	0.06
R7252:Stard13	UTSW	5	150,986,634 (GRCm39)	missense	probably benign	0.01
R7318:Stard13	UTSW	5	150,986,038 (GRCm39)	nonsense	probably null
R7459:Stard13	UTSW	5	150,971,064 (GRCm39)	missense	probably damaging	1.00
R7571:Stard13	UTSW	5	150,982,967 (GRCm39)	missense	probably damaging	0.97
R7696:Stard13	UTSW	5	150,984,267 (GRCm39)	missense	probably damaging	0.99
R7809:Stard13	UTSW	5	151,113,489 (GRCm39)	missense	probably damaging	0.98
R7962:Stard13	UTSW	5	150,975,838 (GRCm39)	missense	probably damaging	0.99
R7970:Stard13	UTSW	5	150,986,726 (GRCm39)	missense	possibly damaging	0.83
R8103:Stard13	UTSW	5	150,970,435 (GRCm39)	missense	possibly damaging	0.92
R8113:Stard13	UTSW	5	150,986,970 (GRCm39)	missense	probably damaging	0.99
R8263:Stard13	UTSW	5	151,157,106 (GRCm39)	missense	possibly damaging	0.81
R8392:Stard13	UTSW	5	150,965,627 (GRCm39)	missense	probably benign	0.24
R8490:Stard13	UTSW	5	150,987,090 (GRCm39)	missense	probably damaging	1.00
R8726:Stard13	UTSW	5	150,986,607 (GRCm39)	missense	probably benign	0.28
R8896:Stard13	UTSW	5	150,986,115 (GRCm39)	missense	probably damaging	1.00
R8939:Stard13	UTSW	5	150,968,574 (GRCm39)	critical splice donor site	probably null
R8946:Stard13	UTSW	5	150,984,267 (GRCm39)	missense	probably damaging	1.00
R9157:Stard13	UTSW	5	151,157,152 (GRCm39)	missense	probably benign	0.00
R9257:Stard13	UTSW	5	150,985,956 (GRCm39)	missense	probably benign
R9387:Stard13	UTSW	5	151,113,483 (GRCm39)	missense	probably benign	0.27
R9586:Stard13	UTSW	5	150,985,832 (GRCm39)	missense	possibly damaging	0.90
R9708:Stard13	UTSW	5	150,986,961 (GRCm39)	missense	possibly damaging	0.82
R9771:Stard13	UTSW	5	150,983,048 (GRCm39)	missense	probably damaging	1.00
Z1177:Stard13	UTSW	5	150,986,799 (GRCm39)	missense	probably benign	0.18

Posted On

2013-12-09