Mutagenetix > Incidental Mutations

Incidental Mutation 'R3741:Spem2'

270375

Institutional Source

Beutler Lab

Gene Symbol

Spem2

Ensembl Gene

ENSMUSG00000044084

Gene Name

SPEM family member 2

Synonyms

4933402P03Rik

MMRRC Submission

040727-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R3741 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69816566-69818465 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69816730 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 470 (R470G)

Ref Sequence

ENSEMBL: ENSMUSP00000051204 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045771] [ENSMUST00000056941] [ENSMUST00000210714]

Predicted Effect

probably benign
Transcript: ENSMUST00000045771

SMART Domains

Protein: ENSMUSP00000037500
Gene: ENSMUSG00000041165

Domain	Start	End	E-Value	Type
Pfam:Spem1	12	196	3.7e-23	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056941
AA Change: R470G

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000051204
Gene: ENSMUSG00000044084
AA Change: R470G

Domain	Start	End	E-Value	Type
Pfam:Spem1	1	261	2e-121	PFAM
low complexity region	281	294	N/A	INTRINSIC
low complexity region	478	494	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000210714

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

97% (37/38)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aspm	T	C	1: 139,478,619	V1748A	possibly damaging	Het
Atp10b	A	T	11: 43,235,662	S1082C	probably damaging	Het
Atp8b2	C	G	3: 89,946,031	A726P	probably benign	Het
B4galt3	C	A	1: 171,274,043	H196N	probably damaging	Het
Bbip1	T	C	19: 53,932,175	M1V	probably null	Het
Bbox1	A	G	2: 110,305,577	I19T	possibly damaging	Het
Bclaf3	T	A	X: 159,551,832	H41Q	probably benign	Het
Ctsm	T	A	13: 61,539,627	Q107L	probably benign	Het
Ctso	G	A	3: 81,952,249	V288I	probably benign	Het
Cyp2a4	A	C	7: 26,308,544	K125N	probably damaging	Het
Dapk1	T	C	13: 60,748,200	S701P	probably benign	Het
Dnah1	A	G	14: 31,265,467		probably benign	Het
Dnah11	A	G	12: 118,131,341	M718T	probably benign	Het
Dnah2	C	A	11: 69,448,469	A3071S	probably damaging	Het
Epb41l4a	A	T	18: 33,828,102		probably null	Het
Fam135a	A	T	1: 24,014,811	M1215K	probably damaging	Het
Gm6489	T	A	1: 31,287,683		noncoding transcript	Het
Hhipl1	A	G	12: 108,318,717	Y443C	probably damaging	Het
Hoxc13	G	A	15: 102,921,438	G84D	possibly damaging	Het
Ifi207	T	C	1: 173,727,562	I851M	probably damaging	Het
Lipk	T	G	19: 34,021,707	L134R	probably damaging	Het
Mov10l1	A	G	15: 89,012,142	N678D	possibly damaging	Het
Msrb3	A	T	10: 120,784,214	F67I	probably damaging	Het
Myo1a	A	G	10: 127,714,898	D593G	probably benign	Het
Nsf	C	T	11: 103,930,752	E26K	possibly damaging	Het
Nup210l	A	T	3: 90,207,394	M1759L	probably benign	Het
Optn	C	A	2: 5,034,198	M371I	possibly damaging	Het
Rims1	A	T	1: 22,373,443	V380D	probably damaging	Het
Rnf148	A	G	6: 23,654,065	C311R	possibly damaging	Het
Rrp12	T	C	19: 41,885,728	D377G	probably damaging	Het
Sbp	T	A	17: 23,945,582		probably benign	Het
Sipa1	T	C	19: 5,654,857	E570G	probably damaging	Het
Syngr4	T	C	7: 45,895,770	E5G	possibly damaging	Het
Tmem88b	A	G	4: 155,785,427	L59P	probably damaging	Het
Ttn	T	A	2: 76,790,359	K13995*	probably null	Het
Vmn1r69	A	G	7: 10,580,142	Y221H	possibly damaging	Het
Zfp386	T	A	12: 116,059,550	L296*	probably null	Het

Other mutations in Spem2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01407:Spem2	APN	11	69817239	missense	possibly damaging	0.53
IGL02208:Spem2	APN	11	69817263	splice site	probably null
IGL02315:Spem2	APN	11	69817365	missense	probably damaging	0.98
IGL02325:Spem2	APN	11	69816963	missense	probably benign	0.00
IGL02877:Spem2	APN	11	69817695	missense	probably benign	0.16
R1476:Spem2	UTSW	11	69818070	missense	probably benign	0.05
R1928:Spem2	UTSW	11	69817464	missense	probably benign	0.03
R3811:Spem2	UTSW	11	69817164	missense	possibly damaging	0.72
R4271:Spem2	UTSW	11	69817425	missense	probably damaging	0.98
R4717:Spem2	UTSW	11	69817783	missense	probably benign	0.37
R4997:Spem2	UTSW	11	69817732	missense	probably benign	0.06
R5114:Spem2	UTSW	11	69817147	missense	probably benign	0.33
R6137:Spem2	UTSW	11	69816696	nonsense	probably null
R6302:Spem2	UTSW	11	69818265	missense	possibly damaging	0.71
R6454:Spem2	UTSW	11	69817428	missense	probably damaging	0.97
R6923:Spem2	UTSW	11	69817777	missense	probably damaging	0.99
R7000:Spem2	UTSW	11	69817756	missense	probably benign
R8516:Spem2	UTSW	11	69816895	missense	possibly damaging	0.53

Predicted Primers

PCR Primer
(F):5'- AATCCCAGGTCAGTGAAAGG -3'
(R):5'- GGTGAGGCTTCATACCAAAGG -3'

Sequencing Primer
(F):5'- AGACAACCGAGTTTTCTGGACTC -3'
(R):5'- GCTTCATACCAAAGGGCCCC -3'

Posted On

2015-03-18