Mutagenetix > Incidental Mutation

Incidental Mutation 'RF043:Stard8'

604943

Institutional Source

Beutler Lab

Gene Symbol

Stard8

Ensembl Gene

ENSMUSG00000031216

Gene Name

StAR related lipid transfer domain containing 8

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

RF043 (G1)

Quality Score

149.467

Status

Not validated

Chromosome

Chromosomal Location

98046854-98118334 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

GA to GAGCA at 98110133 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114897 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036606] [ENSMUST00000149999]

AlphaFold

Q8K031

Predicted Effect

probably benign
Transcript: ENSMUST00000036606

SMART Domains

Protein: ENSMUSP00000044491
Gene: ENSMUSG00000031216

Domain	Start	End	E-Value	Type
low complexity region	44	65	N/A	INTRINSIC
low complexity region	72	90	N/A	INTRINSIC
low complexity region	288	299	N/A	INTRINSIC
coiled coil region	334	372	N/A	INTRINSIC
low complexity region	396	417	N/A	INTRINSIC
low complexity region	457	464	N/A	INTRINSIC
RhoGAP	579	770	1.97e-56	SMART
START	814	1016	2.13e-69	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000149999

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a subfamily of Rho GTPase activating proteins that contain a steroidogenic acute regulatory protein related lipid transfer domain. The encoded protein localizes to focal adhesions and may be involved in regulating cell morphology. This protein may also function as a tumor suppressor. [provided by RefSeq, Mar 2010]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anapc2	GCGGCGGCGGCGAC	GC	2: 25,162,573 (GRCm39)		probably benign	Het
Ankhd1	CGGCGG	CGGCGGTGGCGG	18: 36,693,970 (GRCm39)		probably benign	Het
Btnl10	CAAA	CAAAAAA	11: 58,814,752 (GRCm39)		probably benign	Het
Cpne1	TCCAC	TC	2: 155,915,430 (GRCm39)		probably benign	Het
Cyb5r4	ACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	ACACTGCCCAGGGATGTGACAGACGCACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	9: 86,922,464 (GRCm39)		probably benign	Het
Cyb5r4	AGACACACTGCCCAGGGA	AGACACACTGCCCAGGGATGTGACCGACACACTGCCCAGGGA	9: 86,922,484 (GRCm39)		probably benign	Het
Dbr1	GAGGAG	GAGGAGCAGGAG	9: 99,465,750 (GRCm39)		probably benign	Het
Defb22	GCGGCA	GCGGCAGAGCTGGCCTTTGCGGCA	2: 152,327,753 (GRCm39)		probably benign	Het
Emid1	G	T	11: 5,094,322 (GRCm39)	P63Q	probably damaging	Het
Gabre	GCTCCG	GCTCCGACTCCG	X: 71,313,654 (GRCm39)		probably benign	Het
Gar1	AACTGCC	A	3: 129,624,337 (GRCm39)		probably benign	Het
Gm10181	GAGAGAGAGAGAGA	G	9: 25,000,755 (GRCm39)		probably null	Het
Hic1	GGGA	G	11: 75,060,281 (GRCm39)		probably benign	Het
Il2	GG	GGGCTTGAAGTGTG	3: 37,179,991 (GRCm39)		probably benign	Het
Iqcf4	CTTTTCCTTTT	CTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCGTTTTCCTTTT	9: 106,447,812 (GRCm39)		probably benign	Het
Irag2	TG	TGAGCACATGG	6: 145,119,516 (GRCm39)		probably benign	Het
Krtap4-2	AGGGGCGGCAGC	A	11: 99,525,547 (GRCm39)		probably null	Het
Lmx1b	CATCTTGATGCCGTCCAA	CA	2: 33,530,521 (GRCm39)		probably null	Het
Lrch1	TGGTGGTG	T	14: 75,185,015 (GRCm39)		probably null	Het
Lypd8	CA	CAGTTCCCTCGCCTCTGTTACCCCACAAATCACCAAGA	11: 58,281,069 (GRCm39)		probably benign	Het
Mamld1	AGC	AGCTGC	X: 70,162,441 (GRCm39)		probably benign	Het
Mrgprx1	GAAC	GAACAAC	7: 47,671,257 (GRCm39)		probably benign	Het
Nefh	CTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGA	CTTGGCCTCACCTGGGGAATTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGA	11: 4,891,016 (GRCm39)		probably benign	Het
Nusap1	AGTGAGGAGCAAGCTGAGA	AGTGAGGAGCAAGCTGAGATACACGTTAGCCGTGAGGAGCAAGCTGAGA	2: 119,458,073 (GRCm39)		probably benign	Het
P4ha2	GGTGTTG	GG	11: 54,001,076 (GRCm39)		probably null	Het
Padi3	TCTCAC	TC	4: 140,520,283 (GRCm39)		probably benign	Het
Plekhs1	TCCAGAC	TCCAGACCTCCCCCCAGAC	19: 56,468,290 (GRCm39)		probably benign	Het
Ptms	TCCTCCTC	TCCTCCTCCTC	6: 124,891,411 (GRCm39)		probably benign	Het
Rassf6	AATGGGGATTC	AATGGGGATTCTGCCTCACTCATGGTCCTGTAGAGCCATGGGGATTC	5: 90,756,791 (GRCm39)		probably benign	Het
Rassf6	ATTC	ATTCTGCCTCACTCAGGGTCCTGTAGAGCAATGGGGCTTC	5: 90,756,798 (GRCm39)		probably benign	Het
Rgs22	CTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CAAAAAAAAAAAA	15: 36,010,982 (GRCm39)		probably benign	Het
Rnf144a	TCTC	TCTCTCTCTCTCTCGCTC	12: 26,364,013 (GRCm39)		probably benign	Het
Rpgrip1	GAG	GAGAAG	14: 52,386,852 (GRCm39)		probably benign	Het
Sgpp1	ACACAC	A	12: 75,769,399 (GRCm39)		probably null	Het
Slc39a4	GTC	GTCATCATGATCACCATGGTCACCATGATCGCTGTGTTC	15: 76,499,070 (GRCm39)		probably benign	Het
Spaca1	TCTCGC	TCTCGCGCTCGC	4: 34,049,846 (GRCm39)		probably benign	Het
Tcof1	AGATCCCCTTGGC	AGATCCCCTTGGCTGCTGAGAAGGGCACTTTCCCAGGGATCCCCTTGGC	18: 60,966,644 (GRCm39)		probably benign	Het
Tgoln1	TGGGCTTG	TGGGCTTGTCAGAATCACCTCCTGCGGGCTTG	6: 72,593,019 (GRCm39)		probably benign	Het
Tgoln1	GCTTGCCAGAAT	GCTTGCCAGAATCACCGCCCGTGGTCTTGCCAGAAT	6: 72,593,046 (GRCm39)		probably benign	Het
Tmed6	AGC	AGCTCGC	8: 107,788,228 (GRCm39)		probably null	Het
Trappc9	GCTGCTGCTGCTGCTGCTGCTGCTGCT	GCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCTGCTGCT	15: 72,673,154 (GRCm39)		probably benign	Het
Zfp933	TT	TTTGCCT	4: 147,910,188 (GRCm39)		probably null	Het

Other mutations in Stard8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00507:Stard8	APN	X	98,112,941 (GRCm39)	missense	probably damaging	1.00
IGL01063:Stard8	APN	X	98,116,694 (GRCm39)	missense	probably damaging	1.00
FR4304:Stard8	UTSW	X	98,110,111 (GRCm39)	unclassified	probably benign
FR4976:Stard8	UTSW	X	98,110,131 (GRCm39)	unclassified	probably benign
FR4976:Stard8	UTSW	X	98,110,119 (GRCm39)	unclassified	probably benign
R4198:Stard8	UTSW	X	98,110,114 (GRCm39)	unclassified	probably benign
R4641:Stard8	UTSW	X	98,110,114 (GRCm39)	unclassified	probably benign
R8246:Stard8	UTSW	X	98,109,570 (GRCm39)	missense	probably benign
R8247:Stard8	UTSW	X	98,109,570 (GRCm39)	missense	probably benign
RF002:Stard8	UTSW	X	98,110,121 (GRCm39)	nonsense	probably null
RF010:Stard8	UTSW	X	98,110,123 (GRCm39)	unclassified	probably benign
RF043:Stard8	UTSW	X	98,110,126 (GRCm39)	unclassified	probably benign
RF051:Stard8	UTSW	X	98,110,130 (GRCm39)	unclassified	probably benign
RF055:Stard8	UTSW	X	98,110,126 (GRCm39)	unclassified	probably benign
RF063:Stard8	UTSW	X	98,110,130 (GRCm39)	nonsense	probably null
RF064:Stard8	UTSW	X	98,110,133 (GRCm39)	nonsense	probably null
X0004:Stard8	UTSW	X	98,110,289 (GRCm39)	missense	possibly damaging	0.58

Predicted Primers

PCR Primer
(F):5'- CCTATACAGGCTGAAGCTGAGG -3'
(R):5'- TCTGCAGTCGAGTTAGCTTC -3'

Sequencing Primer
(F):5'- GCTGAGGCTGAAGCTGAG -3'
(R):5'- TCAGCCTGTACCAATGGTTCGAC -3'

Posted On

2019-12-04