Mutagenetix > Incidental Mutation

Incidental Mutation 'R0069:Ostm1'

33111

Institutional Source

Beutler Lab

Gene Symbol

Ostm1

Ensembl Gene

ENSMUSG00000038280

Gene Name

osteopetrosis associated transmembrane protein 1

Synonyms

gl, 1200002H13Rik, HSPC019

MMRRC Submission

038360-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.318) question?

Stock #

R0069 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

42554912-42578458 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 42568952 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 37 (D37A)

Ref Sequence

ENSEMBL: ENSMUSP00000101136 (fasta)

Gene Model

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

AlphaFold

Q8BGT0

Predicted Effect

probably benign
Transcript: ENSMUST00000040718
AA Change: D192A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000035516
Gene: ENSMUSG00000038280
AA Change: D192A

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

probably benign
Transcript: ENSMUST00000105497
AA Change: D37A

PolyPhen 2 Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000101136
Gene: ENSMUSG00000038280
AA Change: D37A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000144806
AA Change: D37A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000116534
Gene: ENSMUSG00000038280
AA Change: D37A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154048

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.2%
20x: 95.4%

Validation Efficiency

96% (52/54)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	T	6: 128,538,525 (GRCm39)	C632S	probably damaging	Het
Antxr2	T	A	5: 98,096,109 (GRCm39)	M392L	possibly damaging	Het
Cd101	A	G	3: 100,915,533 (GRCm39)	V678A	probably benign	Het
Clec2g	T	C	6: 128,957,274 (GRCm39)		probably null	Het
Clec2g	T	A	6: 128,925,716 (GRCm39)	S42T	probably benign	Het
Creb1	A	G	1: 64,615,367 (GRCm39)	I240V	possibly damaging	Het
D2hgdh	G	T	1: 93,763,009 (GRCm39)	V265L	possibly damaging	Het
Dctn2	A	T	10: 127,113,354 (GRCm39)		probably null	Het
Diablo	A	T	5: 123,656,087 (GRCm39)	S117R	probably damaging	Het
Ebf2	A	T	14: 67,647,499 (GRCm39)	R349S	probably damaging	Het
Fam168a	C	T	7: 100,484,618 (GRCm39)	A252V	probably benign	Het
Fbn2	T	C	18: 58,202,256 (GRCm39)	Y1299C	probably damaging	Het
Gne	A	C	4: 44,060,099 (GRCm39)	V98G	probably damaging	Het
Hk2	A	G	6: 82,713,509 (GRCm39)		probably null	Het
Ifi206	A	T	1: 173,314,413 (GRCm39)	V9D	probably damaging	Het
Ints3	A	G	3: 90,307,954 (GRCm39)		probably benign	Het
Itgal	A	G	7: 126,909,503 (GRCm39)	T56A	probably benign	Het
Lzts3	T	A	2: 130,478,460 (GRCm39)	T213S	probably benign	Het
Map1b	A	G	13: 99,566,356 (GRCm39)	S2122P	unknown	Het
Mei4	C	T	9: 81,907,635 (GRCm39)	Q223*	probably null	Het
Mpzl3	T	C	9: 44,979,550 (GRCm39)	V167A	probably damaging	Het
Myo1d	A	G	11: 80,528,779 (GRCm39)	I681T	probably damaging	Het
Myom2	A	G	8: 15,167,624 (GRCm39)	T1070A	probably benign	Het
Nacc1	T	A	8: 85,403,828 (GRCm39)	I16F	probably damaging	Het
Nfx1	T	C	4: 40,986,688 (GRCm39)		probably benign	Het
Or10ak12	A	T	4: 118,666,887 (GRCm39)	V58D	probably damaging	Het
Or8g33	A	G	9: 39,338,188 (GRCm39)	Y60H	probably damaging	Het
Pde8a	T	C	7: 80,968,871 (GRCm39)		probably benign	Het
Pole2	A	T	12: 69,256,661 (GRCm39)	V288E	probably damaging	Het
Poteg	T	C	8: 27,937,849 (GRCm39)	S2P	probably benign	Het
Ppp2r5c	A	T	12: 110,534,204 (GRCm39)	M356L	probably benign	Het
Prkdc	G	A	16: 15,544,368 (GRCm39)	S1786N	probably benign	Het
Prox1	A	G	1: 189,893,116 (GRCm39)	V443A	possibly damaging	Het
Prpf6	T	A	2: 181,257,756 (GRCm39)		probably null	Het
Ptger1	A	T	8: 84,394,948 (GRCm39)	T142S	possibly damaging	Het
Rad54l2	C	A	9: 106,587,564 (GRCm39)	V734L	possibly damaging	Het
Rnpepl1	T	A	1: 92,846,620 (GRCm39)	N507K	possibly damaging	Het
Slc38a10	A	T	11: 119,997,328 (GRCm39)	V722E	probably damaging	Het
Slfn10-ps	A	G	11: 82,926,368 (GRCm39)		noncoding transcript	Het
Slitrk6	A	T	14: 110,987,364 (GRCm39)	L781H	probably damaging	Het
Sult1e1	A	T	5: 87,727,756 (GRCm39)	H175Q	probably damaging	Het
Ube2e3	C	A	2: 78,750,293 (GRCm39)		probably benign	Het
Vmn1r208	A	T	13: 22,956,595 (GRCm39)	W301R	probably benign	Het
Vps13d	A	G	4: 144,789,133 (GRCm39)	I746T	probably benign	Het
Xpnpep3	T	C	15: 81,314,999 (GRCm39)	V233A	probably benign	Het
Zfp329	A	T	7: 12,544,859 (GRCm39)	S222T	probably damaging	Het
Zswim6	T	C	13: 107,875,098 (GRCm39)		noncoding transcript	Het

Other mutations in Ostm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01885:Ostm1	APN	10	42,574,147 (GRCm39)	missense	possibly damaging	0.95
IGL02974:Ostm1	APN	10	42,559,158 (GRCm39)	missense	probably damaging	1.00
IGL03195:Ostm1	APN	10	42,574,213 (GRCm39)	missense	probably damaging	1.00
IGL03282:Ostm1	APN	10	42,574,227 (GRCm39)	missense	probably damaging	1.00
IGL03385:Ostm1	APN	10	42,574,140 (GRCm39)	missense	probably damaging	1.00
Schwer	UTSW	10	42,555,325 (GRCm39)	missense	probably damaging	1.00
steinknochel	UTSW	10	42,559,268 (GRCm39)	missense	probably null	0.96
R0111:Ostm1	UTSW	10	42,555,254 (GRCm39)	missense	probably damaging	1.00
R0480:Ostm1	UTSW	10	42,572,343 (GRCm39)	missense	probably damaging	1.00
R4274:Ostm1	UTSW	10	42,574,230 (GRCm39)	missense	probably damaging	1.00
R4433:Ostm1	UTSW	10	42,555,119 (GRCm39)	missense	probably benign	0.21
R4731:Ostm1	UTSW	10	42,554,975 (GRCm39)	intron	probably benign
R5619:Ostm1	UTSW	10	42,555,325 (GRCm39)	missense	probably damaging	1.00
R7140:Ostm1	UTSW	10	42,559,268 (GRCm39)	missense	probably null	0.96
R7400:Ostm1	UTSW	10	42,574,213 (GRCm39)	missense	probably damaging	1.00
R7715:Ostm1	UTSW	10	42,559,183 (GRCm39)	missense	probably benign
R8336:Ostm1	UTSW	10	42,572,334 (GRCm39)	missense	probably damaging	1.00
R9248:Ostm1	UTSW	10	42,574,210 (GRCm39)	missense	probably damaging	0.99
U24488:Ostm1	UTSW	10	42,555,227 (GRCm39)	missense	possibly damaging	0.84

Predicted Primers

PCR Primer
(F):5'- ACATGCAGTCGTCCACTCTGAGTA -3'
(R):5'- CCTCCCTCCCCTGGGACAGT -3'

Sequencing Primer
(F):5'- tccttcatttctttttcctgttcc -3'
(R):5'- accagcagccttgcattc -3'

Posted On

2013-05-09