Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03195:Ostm1'

412782

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ostm1

Ensembl Gene

ENSMUSG00000038280

Gene Name

osteopetrosis associated transmembrane protein 1

Synonyms

gl, 1200002H13Rik, HSPC019

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.392) question?

Stock #

IGL03195

Quality Score

Status

Chromosome

Chromosomal Location

42583822-42702459 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 42698217 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 302 (V302A)

Ref Sequence

ENSEMBL: ENSMUSP00000035516 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040718] [ENSMUST00000105497] [ENSMUST00000144806]

Predicted Effect

probably damaging
Transcript: ENSMUST00000040718
AA Change: V302A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000035516
Gene: ENSMUSG00000038280
AA Change: V302A

Domain	Start	End	E-Value	Type
signal peptide	1	34	N/A	INTRINSIC
low complexity region	59	84	N/A	INTRINSIC
Pfam:OSTMP1	88	332	1.9e-87	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105497
AA Change: V147A

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101136
Gene: ENSMUSG00000038280
AA Change: V147A

Domain	Start	End	E-Value	Type
Pfam:OSTMP1	1	171	1.1e-67	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000144806
AA Change: V147A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000116534
Gene: ENSMUSG00000038280
AA Change: V147A

Domain	Start	End	E-Value	Type
Pfam:OSTMP1	1	169	4.5e-68	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149950

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154048

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 that may be involved in the degradation of G proteins via the ubiquitin-dependent proteasome pathway. The encoded protein binds to members of subfamily A of the regulator of the G-protein signaling (RGS) family through an N-terminal leucine-rich region. This protein also has a central RING finger-like domain and E3 ubiquitin ligase activity. This protein is highly conserved from flies to humans. Defects in this gene may cause the autosomal recessive, infantile malignant form of osteopetrosis. [provided by RefSeq, Jul 2008]
PHENOTYPE: A model for osteopetrosis, mice homozygous for mutations of this gene display osteogenic abnormalities, including failure of tooth eruption. Mutants also have abnormal coat color as well as a reduced life span. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	A	G	5: 8,853,607	D1086G	possibly damaging	Het
Ahcyl2	T	C	6: 29,906,769		probably benign	Het
Ankrd42	T	A	7: 92,591,858	Q431L	probably benign	Het
Arhgap12	A	T	18: 6,031,766	F592I	probably damaging	Het
Arhgef28	A	G	13: 97,951,563		probably null	Het
Boc	A	G	16: 44,492,821	F560S	probably damaging	Het
Ccdc81	A	T	7: 89,896,708	V96E	probably benign	Het
Cep162	C	T	9: 87,225,786	S517N	probably benign	Het
Cntnap5a	A	G	1: 116,157,448	N372S	probably benign	Het
Dnah7a	G	A	1: 53,419,607	R3791C	probably damaging	Het
Fdxr	T	C	11: 115,276,092	Q57R	probably benign	Het
G3bp2	A	G	5: 92,068,508		probably benign	Het
Gm595	T	A	X: 48,872,948	Q296L	possibly damaging	Het
Hmcn1	G	A	1: 150,802,909	T487I	probably benign	Het
Kpna7	A	T	5: 144,997,037	I282N	probably damaging	Het
Lif	A	T	11: 4,269,201	Y160F	probably damaging	Het
Lrp1b	A	T	2: 41,471,122	D556E	possibly damaging	Het
Myom2	G	T	8: 15,111,844	E954*	probably null	Het
Nr6a1	A	T	2: 38,742,936	I171N	probably damaging	Het
Nup210	C	A	6: 91,015,850	R1059L	probably benign	Het
Olfr1109	A	T	2: 87,092,569	V276E	probably damaging	Het
Olfr225	G	A	11: 59,613,803	V280M	probably damaging	Het
Olfr698	A	G	7: 106,752,773	I205T	probably benign	Het
Olfr743	A	G	14: 50,533,420	T3A	probably benign	Het
Olfr987	A	T	2: 85,331,520	I126N	probably damaging	Het
Oxct1	A	G	15: 4,101,189	M388V	possibly damaging	Het
Ppp6r2	G	A	15: 89,268,555	V300I	possibly damaging	Het
Prmt1	T	C	7: 44,977,571	Y205C	probably damaging	Het
Slc45a4	A	C	15: 73,584,423	V636G	possibly damaging	Het
Spata18	T	A	5: 73,671,248	L270Q	probably damaging	Het
Stard9	G	A	2: 120,705,802	D4151N	probably damaging	Het
Thsd7b	G	A	1: 129,628,909	C334Y	probably damaging	Het
Tmtc3	C	T	10: 100,459,034	V406M	probably benign	Het
Trpc5	T	A	X: 144,382,728	M900L	probably benign	Het
Ttc9c	T	C	19: 8,815,980	K99E	probably benign	Het
Vmn1r73	A	G	7: 11,757,080	E275G	probably damaging	Het

Other mutations in Ostm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01885:Ostm1	APN	10	42698151	missense	possibly damaging	0.95
IGL02974:Ostm1	APN	10	42683162	missense	probably damaging	1.00
IGL03282:Ostm1	APN	10	42698231	missense	probably damaging	1.00
IGL03385:Ostm1	APN	10	42698144	missense	probably damaging	1.00
Schwer	UTSW	10	42679329	missense	probably damaging	1.00
steinknochel	UTSW	10	42683272	missense	probably null	0.96
R0069:Ostm1	UTSW	10	42692956	missense	probably benign	0.19
R0111:Ostm1	UTSW	10	42679258	missense	probably damaging	1.00
R0480:Ostm1	UTSW	10	42696347	missense	probably damaging	1.00
R4274:Ostm1	UTSW	10	42698234	missense	probably damaging	1.00
R4433:Ostm1	UTSW	10	42679123	missense	probably benign	0.21
R4731:Ostm1	UTSW	10	42678979	intron	probably benign
R5619:Ostm1	UTSW	10	42679329	missense	probably damaging	1.00
R7140:Ostm1	UTSW	10	42683272	missense	probably null	0.96
R7400:Ostm1	UTSW	10	42698217	missense	probably damaging	1.00
R7715:Ostm1	UTSW	10	42683187	missense	probably benign
R8336:Ostm1	UTSW	10	42696338	missense	probably damaging	1.00
U24488:Ostm1	UTSW	10	42679231	missense	possibly damaging	0.84

Posted On

2016-08-02