Mutagenetix > Incidental Mutation

Incidental Mutation 'R2130:Stard13'

227941

Institutional Source

Beutler Lab

Gene Symbol

Stard13

Ensembl Gene

ENSMUSG00000016128

Gene Name

StAR related lipid transfer domain containing 13

Synonyms

GT650, DLC2

MMRRC Submission

040133-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2130 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

150960975-151157301 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 150968633 bp (GRCm39)

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: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

94% (94/100)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,553,223 (GRCm39)	N178I	probably damaging	Het
Aadacl2fm3	T	C	3: 59,772,769 (GRCm39)	V91A	probably damaging	Het
Adgrl2	T	C	3: 148,596,124 (GRCm39)	I71V	probably damaging	Het
Adgrv1	T	C	13: 81,729,846 (GRCm39)	T212A	possibly damaging	Het
Aopep	T	A	13: 63,357,963 (GRCm39)	C656S	probably benign	Het
Aox3	A	G	1: 58,209,002 (GRCm39)	H845R	probably damaging	Het
Apaf1	A	T	10: 90,896,027 (GRCm39)	Y348*	probably null	Het
Apobr	A	G	7: 126,186,378 (GRCm39)	T630A	probably benign	Het
Arhgap23	A	G	11: 97,342,387 (GRCm39)	D223G	possibly damaging	Het
Asic1	A	T	15: 99,569,756 (GRCm39)	T26S	possibly damaging	Het
Atp13a2	T	A	4: 140,732,327 (GRCm39)	M864K	probably damaging	Het
Atrnl1	G	A	19: 57,643,426 (GRCm39)	G438D	probably damaging	Het
Bbc3	T	C	7: 16,046,268 (GRCm39)	V68A	possibly damaging	Het
Birc6	T	C	17: 74,966,149 (GRCm39)		probably benign	Het
Btnl9	A	G	11: 49,071,523 (GRCm39)	F100S	probably damaging	Het
Castor2	G	A	5: 134,164,992 (GRCm39)	C187Y	probably damaging	Het
Ccpg1	A	G	9: 72,920,440 (GRCm39)	N685S	probably damaging	Het
Ces3b	T	A	8: 105,819,607 (GRCm39)		probably null	Het
Cfhr2	T	G	1: 139,758,893 (GRCm39)	R52S	probably benign	Het
Clhc1	A	G	11: 29,507,663 (GRCm39)	I126V	probably benign	Het
Crocc	T	C	4: 140,756,413 (GRCm39)	I1071V	probably benign	Het
Dbt	T	A	3: 116,332,773 (GRCm39)	D16E	probably damaging	Het
Dnajc8	T	C	4: 132,271,370 (GRCm39)	S62P	possibly damaging	Het
Dpyd	T	C	3: 118,468,217 (GRCm39)	V77A	probably benign	Het
Dram2	T	A	3: 106,478,076 (GRCm39)	M136K	possibly damaging	Het
Dtx2	T	A	5: 136,040,894 (GRCm39)	F100I	probably damaging	Het
Dync2h1	A	T	9: 7,011,253 (GRCm39)	W3654R	probably damaging	Het
Fbxw10	T	A	11: 62,750,683 (GRCm39)	I422N	probably damaging	Het
Fgf17	T	C	14: 70,875,927 (GRCm39)	R102G	probably damaging	Het
Gm28040	AGTG	AGTGGCACCTTTGGTG	1: 133,255,059 (GRCm39)		probably benign	Het
Gm6578	C	A	6: 12,100,186 (GRCm39)		noncoding transcript	Het
Gm8374	T	C	14: 18,537,078 (GRCm39)	T49A	probably damaging	Het
Gm9797	G	T	10: 11,485,113 (GRCm39)		noncoding transcript	Het
Golga3	T	C	5: 110,350,805 (GRCm39)		probably null	Het
Golim4	A	T	3: 75,815,456 (GRCm39)	V116D	probably damaging	Het
Igfn1	AGGG	AGG	1: 135,902,590 (GRCm39)		probably benign	Het
Insrr	G	A	3: 87,717,879 (GRCm39)		probably null	Het
Ipo9	ATCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTCCTC	1: 135,314,006 (GRCm39)		probably benign	Het
Ipo9	A	G	1: 135,329,988 (GRCm39)	V484A	probably benign	Het
Isoc2b	A	T	7: 4,854,438 (GRCm39)	I31N	probably damaging	Het
Kif5c	T	A	2: 49,648,817 (GRCm39)		probably benign	Het
Krtap16-1	A	T	11: 99,876,602 (GRCm39)	C267*	probably null	Het
Lamc2	T	A	1: 153,002,870 (GRCm39)	D1037V	probably damaging	Het
Lhfpl2	A	G	13: 94,328,557 (GRCm39)	D206G	possibly damaging	Het
Lmtk2	C	T	5: 144,111,806 (GRCm39)	T842I	possibly damaging	Het
Mgat2	T	C	12: 69,232,068 (GRCm39)	F214S	probably damaging	Het
Mki67	T	A	7: 135,305,970 (GRCm39)		probably null	Het
Mpo	A	G	11: 87,688,187 (GRCm39)	D282G	possibly damaging	Het
Myh10	A	G	11: 68,698,115 (GRCm39)		probably benign	Het
Myo15b	G	A	11: 115,762,469 (GRCm39)	V1229I	probably benign	Het
Nfatc2ip	A	G	7: 125,989,634 (GRCm39)	V250A	probably benign	Het
Niban2	A	G	2: 32,813,659 (GRCm39)	K624R	probably benign	Het
Nrp1	A	T	8: 129,224,997 (GRCm39)	E782D	probably damaging	Het
Olfml3	T	A	3: 103,643,185 (GRCm39)	M399L	probably benign	Het
Optc	A	T	1: 133,831,534 (GRCm39)		probably null	Het
Or1j13	A	G	2: 36,370,059 (GRCm39)	S28P	possibly damaging	Het
Or2f1	C	A	6: 42,721,069 (GRCm39)	L33M	possibly damaging	Het
Or56a5	T	A	7: 104,792,757 (GRCm39)	I254F	probably benign	Het
Plekha6	C	A	1: 133,207,103 (GRCm39)		probably null	Het
Prelp	C	T	1: 133,842,869 (GRCm39)	R92K	probably benign	Het
Psph	T	A	5: 129,864,603 (GRCm39)		probably null	Het
Ptpro	A	G	6: 137,388,114 (GRCm39)		probably null	Het
Pzp	T	C	6: 128,468,124 (GRCm39)		probably null	Het
Qrich2	C	T	11: 116,339,243 (GRCm39)		probably benign	Het
Ren1	C	G	1: 133,278,516 (GRCm39)		probably null	Het
Rfwd3	A	T	8: 112,024,034 (GRCm39)	V96E	probably benign	Het
Rnf17	T	C	14: 56,730,811 (GRCm39)	V1205A	probably damaging	Het
Ro60	T	C	1: 143,635,772 (GRCm39)	D458G	probably benign	Het
Senp1	T	A	15: 97,973,848 (GRCm39)	T132S	probably benign	Het
Sgo2b	T	C	8: 64,380,181 (GRCm39)	R884G	probably benign	Het
Slc10a5	G	T	3: 10,400,278 (GRCm39)	D127E	probably benign	Het
Slc25a35	T	G	11: 68,859,791 (GRCm39)	S101R	possibly damaging	Het
Slc6a13	T	C	6: 121,302,000 (GRCm39)	L194P	possibly damaging	Het
Snw1	T	G	12: 87,499,473 (GRCm39)		probably benign	Het
Sort1	T	A	3: 108,259,002 (GRCm39)	F678Y	probably benign	Het
Srsf12	C	T	4: 33,225,764 (GRCm39)		probably benign	Het
Ssxa1	T	A	X: 20,985,581 (GRCm39)		probably benign	Het
Syt2	ACTCTCTCT	ACTCTCTCTCT	1: 134,674,479 (GRCm39)		probably benign	Het
Tacr3	T	C	3: 134,637,941 (GRCm39)	V366A	probably benign	Het
Tasor	T	A	14: 27,168,345 (GRCm39)	Y296N	probably damaging	Het
Tasor	A	G	14: 27,198,571 (GRCm39)	N1301S	possibly damaging	Het
Tecpr1	T	A	5: 144,145,463 (GRCm39)	T595S	probably benign	Het
Tjp3	T	A	10: 81,113,888 (GRCm39)	M457L	possibly damaging	Het
Tkfc	A	G	19: 10,573,405 (GRCm39)	I279T	probably damaging	Het
Tmem98	A	G	11: 80,708,348 (GRCm39)	E106G	probably damaging	Het
Tnnt2	TG	TGG	1: 135,774,499 (GRCm39)		probably benign	Het
Trim41	C	A	11: 48,698,419 (GRCm39)	G516W	probably damaging	Het
Ttn	T	C	2: 76,572,861 (GRCm39)	T24265A	possibly damaging	Het
Usp37	A	G	1: 74,500,815 (GRCm39)	V582A	probably damaging	Het
Vps13b	T	A	15: 35,671,546 (GRCm39)	I1683N	probably benign	Het
Vps13d	C	T	4: 144,882,671 (GRCm39)	R968H	probably benign	Het
Vps35l	T	C	7: 118,393,798 (GRCm39)	Y516H	probably damaging	Het
Vwf	C	T	6: 125,634,020 (GRCm39)	T166I	probably damaging	Het
Zfp280d	T	C	9: 72,215,287 (GRCm39)	F133L	probably damaging	Het
Zfp459	A	T	13: 67,556,395 (GRCm39)	H229Q	probably benign	Het
Zfyve26	T	A	12: 79,315,208 (GRCm39)	I1423F	possibly damaging	Het
Zmynd19	T	A	2: 24,842,648 (GRCm39)	Y15*	probably null	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
IGL01588:Stard13	APN	5	150,968,702 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

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

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

Posted On

2014-09-17