Mutagenetix > Incidental Mutation

Incidental Mutation 'R5729:Mos'

452642

Institutional Source

Beutler Lab

Gene Symbol

Mos

Ensembl Gene

ENSMUSG00000078365

Gene Name

Moloney sarcoma oncogene

Synonyms

c-mos

MMRRC Submission

043346-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5729 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3870658-3872105 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3870971 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 282 (Y282H)

Ref Sequence

ENSEMBL: ENSMUSP00000100789 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105158]

AlphaFold

P00536

Predicted Effect

probably benign
Transcript: ENSMUST00000105158
AA Change: Y282H

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000100789
Gene: ENSMUSG00000078365
AA Change: Y282H

Domain	Start	End	E-Value	Type
low complexity region	39	54	N/A	INTRINSIC
Pfam:Pkinase_Tyr	63	335	9e-41	PFAM
Pfam:Pkinase	64	334	6.3e-43	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 95.2%

Validation Efficiency

97% (62/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MOS is a serine/threonine kinase that activates the MAP kinase cascade through direct phosphorylation of the MAP kinase activator MEK (MAP2K1; MIM 176872) (Prasad et al., 2008 [PubMed 18246541]).[supplied by OMIM, Jul 2009]
PHENOTYPE: Mutations that inactivate the gene result in female infertility and an increased susceptibility to tumors. Oocytes progress through meiosis II without arrest and undergo spontaneous parthenogenetic activation. Male mice are fertile and show no spermatogenic defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adss2	A	T	1: 177,623,824 (GRCm39)	V46E	possibly damaging	Het
Aldoart2	T	C	12: 55,612,690 (GRCm39)	V205A	probably benign	Het
Atp1a2	A	G	1: 172,120,938 (GRCm39)	S45P	probably damaging	Het
Atp4a	A	G	7: 30,411,851 (GRCm39)	K29E	possibly damaging	Het
AU040320	T	A	4: 126,724,208 (GRCm39)	D428E	probably damaging	Het
Bend7	T	C	2: 4,768,085 (GRCm39)	L347P	probably damaging	Het
Cacna2d1	T	A	5: 16,140,037 (GRCm39)	L9*	probably null	Het
Ccdc103	A	T	11: 102,773,904 (GRCm39)	I50F	probably damaging	Het
Cdc5l	T	C	17: 45,737,495 (GRCm39)	I88V	probably benign	Het
Cracr2a	T	C	6: 127,584,199 (GRCm39)	V86A	possibly damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dgkd	C	T	1: 87,864,054 (GRCm39)	Q90*	probably null	Het
Dnajc21	A	T	15: 10,449,682 (GRCm39)	D446E	probably benign	Het
Fam13a	T	G	6: 58,916,292 (GRCm39)	R648S	probably damaging	Het
Gabrg2	A	G	11: 41,858,450 (GRCm39)	V226A	probably damaging	Het
Gm5499	A	T	17: 87,385,944 (GRCm39)		noncoding transcript	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Irf2bp1	G	T	7: 18,739,172 (GRCm39)	E271*	probably null	Het
Krt86	T	G	15: 101,374,429 (GRCm39)	V274G	probably benign	Het
Lats2	A	T	14: 57,960,192 (GRCm39)	C151S	probably benign	Het
Mapk3	A	T	7: 126,363,979 (GRCm39)	T254S	probably benign	Het
Mat2b	A	T	11: 40,573,373 (GRCm39)	M202K	probably damaging	Het
Myo3b	A	G	2: 69,936,083 (GRCm39)	K108R	probably damaging	Het
Naa16	A	G	14: 79,593,220 (GRCm39)	Y417H	probably damaging	Het
Oat	A	T	7: 132,159,984 (GRCm39)	I412N	probably damaging	Het
Or4d11	A	T	19: 12,013,272 (GRCm39)	I278N	probably damaging	Het
Pcdh1	A	T	18: 38,335,999 (GRCm39)	V73D	probably damaging	Het
Pigv	A	T	4: 133,392,134 (GRCm39)	Y345*	probably null	Het
Pitpnc1	G	T	11: 107,228,264 (GRCm39)	F34L	probably benign	Het
Plxnd1	A	G	6: 115,942,838 (GRCm39)	L1282P	probably damaging	Het
Ppp1r3a	T	C	6: 14,719,762 (GRCm39)	D384G	probably benign	Het
Ppp2ca	G	A	11: 52,008,856 (GRCm39)	E119K	probably damaging	Het
Psg29	A	T	7: 16,944,459 (GRCm39)	N323I	probably damaging	Het
Rasa4	T	C	5: 136,122,016 (GRCm39)	V108A	probably benign	Het
Rbm14	A	G	19: 4,852,577 (GRCm39)		probably benign	Het
Rfc1	A	T	5: 65,434,795 (GRCm39)	V657E	probably damaging	Het
Rhcg	A	T	7: 79,250,371 (GRCm39)	N237K	probably damaging	Het
Rpgrip1	A	G	14: 52,397,617 (GRCm39)	Q1302R	probably benign	Het
Rragc	A	G	4: 123,818,645 (GRCm39)	M287V	possibly damaging	Het
Scn7a	A	G	2: 66,572,301 (GRCm39)		probably null	Het
Sema6a	C	T	18: 47,414,410 (GRCm39)	C506Y	probably damaging	Het
Senp1	G	T	15: 97,964,412 (GRCm39)	H267Q	possibly damaging	Het
Skor2	A	G	18: 76,946,578 (GRCm39)	E100G	unknown	Het
Slc38a11	A	T	2: 65,147,365 (GRCm39)	C371S	probably benign	Het
Snai3	G	A	8: 123,181,629 (GRCm39)	A276V	probably benign	Het
Sp110	C	G	1: 85,516,839 (GRCm39)	E219D	probably damaging	Het
Spag6	C	T	2: 18,720,525 (GRCm39)	T99I	probably benign	Het
Spop	A	G	11: 95,376,675 (GRCm39)	I243V	possibly damaging	Het
Sra1	A	T	18: 36,800,496 (GRCm39)		probably benign	Het
Stag3	T	A	5: 138,288,485 (GRCm39)	S140T	possibly damaging	Het
Stx16	G	A	2: 173,935,292 (GRCm39)	G156R	probably damaging	Het
Tbc1d2b	G	C	9: 90,089,925 (GRCm39)	A868G	probably benign	Het
Tead2	A	G	7: 44,870,166 (GRCm39)		probably benign	Het
Tmem53	C	A	4: 117,125,669 (GRCm39)	H261N	probably damaging	Het
Ube4a	A	T	9: 44,844,627 (GRCm39)	S932T	probably damaging	Het
Usp9y	A	T	Y: 1,381,339 (GRCm39)	D827E	probably damaging	Het
Vmn2r53	T	C	7: 12,334,733 (GRCm39)	E309G	probably damaging	Het
Wrn	T	C	8: 33,758,806 (GRCm39)	S1026G	probably benign	Het
Zfp646	G	A	7: 127,484,626 (GRCm39)	A1760T	probably damaging	Het

Other mutations in Mos

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00848:Mos	APN	4	3,871,459 (GRCm39)	missense	probably damaging	1.00
IGL01302:Mos	APN	4	3,871,815 (GRCm39)	utr 5 prime	probably benign
IGL01739:Mos	APN	4	3,871,816 (GRCm39)	utr 5 prime	probably benign
IGL01867:Mos	APN	4	3,870,845 (GRCm39)	missense	probably benign	0.33
IGL02647:Mos	APN	4	3,870,961 (GRCm39)	missense	probably damaging	1.00
PIT4418001:Mos	UTSW	4	3,870,814 (GRCm39)	missense	possibly damaging	0.86
R0967:Mos	UTSW	4	3,870,932 (GRCm39)	missense	probably benign
R4927:Mos	UTSW	4	3,871,093 (GRCm39)	missense	probably damaging	1.00
R6947:Mos	UTSW	4	3,871,585 (GRCm39)	missense	probably damaging	1.00
R8359:Mos	UTSW	4	3,871,097 (GRCm39)	missense	probably damaging	1.00
R8526:Mos	UTSW	4	3,871,709 (GRCm39)	missense	probably damaging	0.99
R9106:Mos	UTSW	4	3,871,457 (GRCm39)	missense	probably benign	0.44
R9336:Mos	UTSW	4	3,870,886 (GRCm39)	missense	probably damaging	1.00
R9347:Mos	UTSW	4	3,871,763 (GRCm39)	missense	probably benign	0.02
R9683:Mos	UTSW	4	3,871,186 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- AAAGCCTTGAGGTCCCTTTGG -3'
(R):5'- TTTGATCAGTGAGCAAGACGTTTG -3'

Sequencing Primer
(F):5'- TTGGAGCAGTTCTGCACC -3'
(R):5'- AAGATCAGTGACTTCGGCTGCTC -3'

Posted On

2017-01-03