Mutagenetix > Incidental Mutation

Incidental Mutation 'R5619:Ostm1'

439720

Institutional Source

Beutler Lab

Gene Symbol

Ostm1

Ensembl Gene

ENSMUSG00000038280

Gene Name

osteopetrosis associated transmembrane protein 1

Synonyms

gl, 1200002H13Rik, HSPC019

MMRRC Submission

043278-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.334) question?

Stock #

R5619 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

42554912-42578458 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 42555325 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 116 (C116S)

Ref Sequence

ENSEMBL: ENSMUSP00000035516 (fasta)

Gene Model

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

AlphaFold

Q8BGT0

Predicted Effect

probably damaging
Transcript: ENSMUST00000040718
AA Change: C116S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000035516
Gene: ENSMUSG00000038280
AA Change: C116S

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

SMART Domains

Protein: ENSMUSP00000101136
Gene: ENSMUSG00000038280

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

Predicted Effect

probably benign
Transcript: ENSMUST00000144806

SMART Domains

Protein: ENSMUSP00000116534
Gene: ENSMUSG00000038280

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154048

Meta Mutation Damage Score

0.9682

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 95.7%

Validation Efficiency

99% (80/81)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
Adgre1	T	G	17: 57,727,437 (GRCm39)	L456V	probably benign	Het
Adgrv1	C	T	13: 81,620,619 (GRCm39)	G3943R	probably damaging	Het
Akap9	A	G	5: 4,004,760 (GRCm39)		probably benign	Het
Atp1a2	T	A	1: 172,106,948 (GRCm39)	I791F	probably damaging	Het
BC004004	C	G	17: 29,501,703 (GRCm39)	P81A	probably damaging	Het
Brca2	C	A	5: 150,480,579 (GRCm39)	T2755K	probably damaging	Het
Cacna1c	T	C	6: 118,719,322 (GRCm39)	D215G	probably damaging	Het
Ccdc142	C	T	6: 83,080,603 (GRCm39)	S445F	probably benign	Het
Comt	T	C	16: 18,230,469 (GRCm39)	E80G	probably damaging	Het
Coq7	T	C	7: 118,126,709 (GRCm39)		probably benign	Het
Coro7	C	A	16: 4,494,799 (GRCm39)		probably null	Het
Cyp2c40	A	G	19: 39,792,228 (GRCm39)	S239P	probably damaging	Het
Dnah5	T	C	15: 28,302,581 (GRCm39)	S1613P	probably damaging	Het
Dync2h1	T	C	9: 7,118,885 (GRCm39)	I2193M	probably benign	Het
Eipr1	A	G	12: 28,917,078 (GRCm39)	Y382C	probably damaging	Het
Fastkd2	T	A	1: 63,778,469 (GRCm39)	H447Q	probably benign	Het
Galk2	A	T	2: 125,817,317 (GRCm39)	R369*	probably null	Het
Gli2	G	A	1: 118,764,485 (GRCm39)	A1222V	probably benign	Het
Golim4	T	A	3: 75,813,802 (GRCm39)	K141*	probably null	Het
Gtpbp3	G	T	8: 71,943,692 (GRCm39)		probably benign	Het
Gzmd	C	T	14: 56,367,224 (GRCm39)	A223T	probably benign	Het
Igf2r	T	C	17: 12,958,221 (GRCm39)	R151G	probably damaging	Het
Itga8	T	A	2: 12,270,139 (GRCm39)	R116W	probably damaging	Het
Klhdc1	T	G	12: 69,304,919 (GRCm39)		probably null	Het
Klhl25	T	C	7: 75,516,602 (GRCm39)	Y198H	probably benign	Het
Klhl29	A	T	12: 5,190,587 (GRCm39)	M136K	probably benign	Het
Lipf	A	T	19: 33,944,292 (GRCm39)	Y167F	possibly damaging	Het
Lpar1	T	C	4: 58,487,155 (GRCm39)	K39E	possibly damaging	Het
Mbtd1	T	A	11: 93,820,705 (GRCm39)		probably null	Het
Myo1a	T	A	10: 127,554,413 (GRCm39)	N794K	probably benign	Het
Nmrk1	T	C	19: 18,622,452 (GRCm39)	L177P	possibly damaging	Het
Noxa1	C	T	2: 24,975,988 (GRCm39)	E401K	probably damaging	Het
Or10g9b	T	A	9: 39,918,039 (GRCm39)	M69L	probably benign	Het
Or4f53	A	T	2: 111,087,856 (GRCm39)	Y132F	probably damaging	Het
Pcdhga7	T	C	18: 37,848,800 (GRCm39)	I269T	probably benign	Het
Pfkfb3	T	C	2: 11,489,470 (GRCm39)	K276R	probably benign	Het
Pfkp	A	T	13: 6,648,765 (GRCm39)		probably benign	Het
Pitpnm1	A	G	19: 4,153,270 (GRCm39)	D142G	probably damaging	Het
Pkp3	T	C	7: 140,668,419 (GRCm39)	L556P	probably damaging	Het
Plb1	C	A	5: 32,490,841 (GRCm39)	T1046N	probably damaging	Het
Plxnb2	T	C	15: 89,047,012 (GRCm39)	S770G	possibly damaging	Het
Polk	A	T	13: 96,620,064 (GRCm39)	I733N	probably damaging	Het
Potegl	T	C	2: 23,147,017 (GRCm39)		probably null	Het
Prkg2	C	A	5: 99,136,156 (GRCm39)	C301F	probably damaging	Het
Rabgap1l	T	C	1: 160,066,142 (GRCm39)	T189A	probably benign	Het
Raph1	T	C	1: 60,529,414 (GRCm39)		probably benign	Het
Rbm22	T	A	18: 60,693,899 (GRCm39)	M1K	probably null	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rnf186	T	A	4: 138,694,715 (GRCm39)	I85N	probably benign	Het
Ryr2	C	A	13: 11,723,088 (GRCm39)	R2517L	probably damaging	Het
Sec63	T	A	10: 42,665,378 (GRCm39)	Y103N	probably damaging	Het
Serpinb3a	G	A	1: 106,974,838 (GRCm39)	P232S	probably damaging	Het
Slco6d1	C	A	1: 98,423,947 (GRCm39)	T533K	probably damaging	Het
Smarcad1	T	A	6: 65,088,865 (GRCm39)	D1000E	probably benign	Het
Spata46	A	T	1: 170,136,490 (GRCm39)	I14F	probably damaging	Het
Speer4b	T	C	5: 27,703,815 (GRCm39)	H106R	possibly damaging	Het
Spint4	T	C	2: 164,542,761 (GRCm39)	L118P	probably benign	Het
Sptbn5	A	G	2: 119,880,613 (GRCm39)		noncoding transcript	Het
Tgfbr3	A	T	5: 107,288,380 (GRCm39)	I427N	probably benign	Het
Thbs2	C	A	17: 14,901,506 (GRCm39)	C491F	probably damaging	Het
Tmem232	T	A	17: 65,793,506 (GRCm39)	E64D	probably benign	Het
Tnpo3	A	T	6: 29,565,197 (GRCm39)	C585*	probably null	Het
Ttc13	A	T	8: 125,406,683 (GRCm39)		probably benign	Het
Tuba8	C	T	6: 121,202,854 (GRCm39)	A389V	probably damaging	Het
Uqcc4	G	A	17: 25,403,963 (GRCm39)	S101N	probably damaging	Het
Usp25	A	G	16: 76,830,833 (GRCm39)	I30V	probably benign	Het
Vmn2r31	T	A	7: 7,387,529 (GRCm39)	K681*	probably null	Het
Vmn2r88	A	G	14: 51,651,367 (GRCm39)	E235G	probably damaging	Het
Vps29	T	A	5: 122,492,511 (GRCm39)		probably benign	Het
Wdr1	A	C	5: 38,686,879 (GRCm39)	V568G	possibly damaging	Het
Zfp64	T	G	2: 168,741,734 (GRCm39)	Q398P	probably damaging	Het
Zfp64	G	T	2: 168,741,735 (GRCm39)	Q398K	probably damaging	Het
Zfp839	T	C	12: 110,830,470 (GRCm39)	Y398H	probably damaging	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
R0069:Ostm1	UTSW	10	42,568,952 (GRCm39)	missense	probably benign	0.19
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
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'- GGACTTGACCCTGTCTTTGC -3'
(R):5'- AGAAGATGCCGGCTTACAG -3'

Sequencing Primer
(F):5'- GACCCTGTCTTTGCTGCAGG -3'
(R):5'- TCGGCTGATGTTGTCCAT -3'

Posted On

2016-11-08