Mutagenetix > Incidental Mutation

Incidental Mutation 'R2132:Stard13'

233382

Institutional Source

Beutler Lab

Gene Symbol

Stard13

Ensembl Gene

ENSMUSG00000016128

Gene Name

StAR related lipid transfer domain containing 13

Synonyms

GT650, DLC2

MMRRC Submission

040135-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2132 (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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.3%

Validation Efficiency

94% (117/124)

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: 122 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	A	G	5: 88,112,335 (GRCm39)		probably benign	Het
4930562C15Rik	A	C	16: 4,653,835 (GRCm39)	Q128P	unknown	Het
Abcc3	T	A	11: 94,258,426 (GRCm39)	K473M	probably benign	Het
Acacb	TGGGG	TGGG	5: 114,347,828 (GRCm39)		probably null	Het
Adgrg7	C	A	16: 56,588,281 (GRCm39)	A199S	probably damaging	Het
Akap13	G	T	7: 75,261,182 (GRCm39)	A1269S	probably benign	Het
Aox3	A	G	1: 58,209,002 (GRCm39)	H845R	probably damaging	Het
Ap2b1	T	A	11: 83,215,587 (GRCm39)		probably benign	Het
Atat1	A	G	17: 36,220,331 (GRCm39)	S54P	probably damaging	Het
Atp13a2	T	A	4: 140,732,327 (GRCm39)	M864K	probably damaging	Het
B3gnt3	G	A	8: 72,145,971 (GRCm39)	T186M	probably damaging	Het
Cars1	C	A	7: 143,146,211 (GRCm39)	R71M	probably damaging	Het
Castor2	G	A	5: 134,164,992 (GRCm39)	C187Y	probably damaging	Het
Ccdc157	A	T	11: 4,100,004 (GRCm39)	V116E	probably damaging	Het
Ccdc85a	G	A	11: 28,384,151 (GRCm39)	T408I	probably benign	Het
Celf1	G	T	2: 90,840,791 (GRCm39)	G353W	probably damaging	Het
Celsr1	T	A	15: 85,916,168 (GRCm39)	I602F	possibly damaging	Het
Cenpb	C	T	2: 131,021,226 (GRCm39)	V191M	probably damaging	Het
Cenpn	G	A	8: 117,661,536 (GRCm39)		probably null	Het
Cfap65	A	C	1: 74,946,850 (GRCm39)	C1287G	probably damaging	Het
Cmya5	G	A	13: 93,205,891 (GRCm39)	T3326I	probably damaging	Het
Cnn3	A	T	3: 121,245,584 (GRCm39)	E100V	probably damaging	Het
Col4a4	G	A	1: 82,475,581 (GRCm39)	R583C	unknown	Het
Commd7	A	C	2: 153,463,586 (GRCm39)		probably benign	Het
Csmd3	T	C	15: 48,320,899 (GRCm39)	T304A	probably benign	Het
Cyp4a14	A	T	4: 115,348,588 (GRCm39)	S325R	probably damaging	Het
Dclk2	T	C	3: 86,827,353 (GRCm39)	N42S	probably benign	Het
Dmrta1	A	T	4: 89,576,946 (GRCm39)	Q134L	probably damaging	Het
Dnaaf3	T	A	7: 4,526,800 (GRCm39)	I426L	probably benign	Het
Dnah17	G	A	11: 117,924,573 (GRCm39)	L3999F	probably damaging	Het
Dock6	A	G	9: 21,757,814 (GRCm39)	S97P	probably benign	Het
Dsg1a	T	A	18: 20,473,854 (GRCm39)	S976T	probably damaging	Het
Dstyk	T	A	1: 132,377,222 (GRCm39)	M29K	probably null	Het
Eif3i	A	T	4: 129,490,719 (GRCm39)	H18Q	probably benign	Het
Epm2a	A	G	10: 11,219,426 (GRCm39)	E71G	probably benign	Het
Eps15l1	A	T	8: 73,140,712 (GRCm39)	V260D	probably benign	Het
Faf1	A	G	4: 109,568,042 (GRCm39)	N34S	probably damaging	Het
Fat3	A	G	9: 16,158,015 (GRCm39)		probably null	Het
Fbxw10	T	A	11: 62,750,683 (GRCm39)	I422N	probably damaging	Het
Fcgbpl1	C	T	7: 27,854,899 (GRCm39)	P1842S	probably damaging	Het
Fkbp15	C	A	4: 62,246,136 (GRCm39)	G431W	probably damaging	Het
Flnb	A	C	14: 7,873,376 (GRCm38)	D224A	probably benign	Het
Flnc	G	A	6: 29,443,675 (GRCm39)	V566M	probably damaging	Het
Gli3	T	A	13: 15,900,134 (GRCm39)	S1174T	possibly damaging	Het
Glmn	A	T	5: 107,726,321 (GRCm39)	V93E	probably damaging	Het
Glrx2	T	C	1: 143,620,842 (GRCm39)	S74P	possibly damaging	Het
Gm5422	G	A	10: 31,124,929 (GRCm39)		noncoding transcript	Het
Gpi1	T	C	7: 33,905,339 (GRCm39)	K362E	probably damaging	Het
Gtpbp2	T	C	17: 46,472,128 (GRCm39)	M21T	probably benign	Het
Gxylt1	A	G	15: 93,142,851 (GRCm39)	*405R	probably null	Het
Heyl	T	C	4: 123,139,876 (GRCm39)	V145A	probably damaging	Het
Hhipl1	A	C	12: 108,277,949 (GRCm39)	E92D	probably damaging	Het
Ifi207	A	G	1: 173,557,337 (GRCm39)	F467S	possibly damaging	Het
Ift70b	G	T	2: 75,767,129 (GRCm39)	H541Q	probably damaging	Het
Igf2r	A	T	17: 12,941,095 (GRCm39)	I462N	probably benign	Het
Inpp5b	A	T	4: 124,678,961 (GRCm39)		probably benign	Het
Kansl2	A	G	15: 98,427,278 (GRCm39)	I201T	probably damaging	Het
Kcnh8	T	C	17: 53,200,961 (GRCm39)	V465A	probably damaging	Het
Kcnu1	T	A	8: 26,341,928 (GRCm39)	I91N	probably damaging	Het
Kif5c	T	A	2: 49,648,817 (GRCm39)		probably benign	Het
Klrc3	T	A	6: 129,618,501 (GRCm39)	Y94F	probably benign	Het
Lgals3bp	T	A	11: 118,284,113 (GRCm39)	T489S	probably benign	Het
Lmo2	T	C	2: 103,811,407 (GRCm39)	Y147H	probably damaging	Het
Lmtk2	C	T	5: 144,111,806 (GRCm39)	T842I	possibly damaging	Het
Magel2	A	T	7: 62,027,486 (GRCm39)	H130L	unknown	Het
Magi1	T	C	6: 93,674,255 (GRCm39)	E951G	probably damaging	Het
Mcm7	T	C	5: 138,167,364 (GRCm39)	Q86R	probably damaging	Het
Med12l	G	T	3: 59,172,703 (GRCm39)		probably null	Het
Morc2a	A	G	11: 3,629,787 (GRCm39)	E402G	possibly damaging	Het
Mphosph8	T	C	14: 56,916,161 (GRCm39)	C486R	probably benign	Het
Mpo	A	G	11: 87,688,187 (GRCm39)	D282G	possibly damaging	Het
Mtcl1	G	T	17: 66,650,618 (GRCm39)	H1616N	probably benign	Het
Myh10	A	G	11: 68,698,115 (GRCm39)		probably benign	Het
Myh8	A	G	11: 67,183,702 (GRCm39)	E777G	probably damaging	Het
Nid1	A	G	13: 13,684,071 (GRCm39)	H1186R	probably benign	Het
Nppb	T	A	4: 148,070,454 (GRCm39)	S8T	probably benign	Het
Nrp1	A	T	8: 129,224,997 (GRCm39)	E782D	probably damaging	Het
Ntrk3	G	A	7: 78,127,683 (GRCm39)		probably benign	Het
Or1ak2	A	G	2: 36,827,704 (GRCm39)	N191S	probably benign	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
Or5al5	A	G	2: 85,961,605 (GRCm39)	V134A	possibly damaging	Het
Or5b99	T	A	19: 12,976,402 (GRCm39)	D17E	probably benign	Het
Or6f1	C	T	7: 85,970,687 (GRCm39)	V158M	possibly damaging	Het
Osbpl6	T	A	2: 76,416,558 (GRCm39)	I546K	probably damaging	Het
Pard6g	T	C	18: 80,160,523 (GRCm39)	V212A	probably damaging	Het
Pate6	T	G	9: 35,701,039 (GRCm39)		probably benign	Het
Pdlim4	A	G	11: 53,954,563 (GRCm39)	L48S	possibly damaging	Het
Phactr3	T	C	2: 177,925,759 (GRCm39)	F345L	probably benign	Het
Plcb1	T	A	2: 135,167,587 (GRCm39)	Y460*	probably null	Het
Prcp	T	A	7: 92,550,488 (GRCm39)	V95D	probably benign	Het
Rfwd3	A	T	8: 112,024,034 (GRCm39)	V96E	probably benign	Het
Ror1	A	G	4: 100,267,222 (GRCm39)	N308D	probably benign	Het
Sdccag8	C	A	1: 176,783,455 (GRCm39)	Q655K	probably damaging	Het
Senp1	T	A	15: 97,973,848 (GRCm39)	T132S	probably benign	Het
Skap1	T	C	11: 96,355,559 (GRCm39)	I10T	possibly damaging	Het
Slc9a4	T	G	1: 40,646,901 (GRCm39)		probably null	Het
Smad2	T	A	18: 76,421,155 (GRCm39)	C161*	probably null	Het
Spata31d1a	G	T	13: 59,848,857 (GRCm39)	D1090E	probably damaging	Het
Tdrd6	T	C	17: 43,935,724 (GRCm39)	T1775A	probably benign	Het
Tecpr1	T	A	5: 144,145,463 (GRCm39)	T595S	probably benign	Het
Terf1	A	G	1: 15,875,909 (GRCm39)	E3G	probably benign	Het
Tjp3	T	A	10: 81,113,888 (GRCm39)	M457L	possibly damaging	Het
Tnfrsf26	C	T	7: 143,171,577 (GRCm39)		probably null	Het
Tor1aip1	A	C	1: 155,883,308 (GRCm39)	M180R	probably damaging	Het
Trabd2b	A	T	4: 114,467,205 (GRCm39)	Q478L	probably benign	Het
Trim41	C	A	11: 48,698,419 (GRCm39)	G516W	probably damaging	Het
Ttc39a	A	G	4: 109,299,903 (GRCm39)	Y464C	probably damaging	Het
Unc5a	A	G	13: 55,138,896 (GRCm39)	S92G	probably damaging	Het
Unc5d	A	C	8: 29,365,557 (GRCm39)	S143A	possibly damaging	Het
Usp34	A	T	11: 23,414,556 (GRCm39)	H2833L	possibly damaging	Het
Vps35l	T	C	7: 118,393,798 (GRCm39)	Y516H	probably damaging	Het
Wdr17	T	G	8: 55,125,541 (GRCm39)	K446N	probably damaging	Het
Xirp2	A	T	2: 67,338,392 (GRCm39)	Q211L	possibly damaging	Het
Xkr7	G	A	2: 152,894,816 (GRCm39)	R256Q	probably benign	Het
Zfp236	T	C	18: 82,639,429 (GRCm39)	M1225V	probably benign	Het
Zfp268	T	A	4: 145,350,803 (GRCm39)		probably benign	Het
Zfp280d	T	C	9: 72,215,287 (GRCm39)	F133L	probably damaging	Het
Zfp747l1	T	C	7: 126,986,107 (GRCm39)	D8G	probably benign	Het
Zfp758	A	G	17: 22,594,951 (GRCm39)	H479R	probably damaging	Het
Zfp827	A	G	8: 79,912,350 (GRCm39)	N284S	possibly damaging	Het
Zfyve26	T	A	12: 79,315,208 (GRCm39)	I1423F	possibly damaging	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
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
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'- TGTGCACCTTGAGGAGAGAG -3'
(R):5'- ATAGTGATGGTTTGGAATGCCC -3'

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

Posted On

2014-10-01