Mutagenetix > Incidental Mutation

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

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R3741 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69707392-69709291 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69707556 bp (GRCm39)

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]

AlphaFold

Q8C5U4

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: 139,406,357 (GRCm39)	V1748A	possibly damaging	Het
Atp10b	A	T	11: 43,126,489 (GRCm39)	S1082C	probably damaging	Het
Atp8b2	C	G	3: 89,853,338 (GRCm39)	A726P	probably benign	Het
B4galt3	C	A	1: 171,101,613 (GRCm39)	H196N	probably damaging	Het
Bbip1	T	C	19: 53,920,606 (GRCm39)	M1V	probably null	Het
Bbox1	A	G	2: 110,135,922 (GRCm39)	I19T	possibly damaging	Het
Bclaf3	T	A	X: 158,334,828 (GRCm39)	H41Q	probably benign	Het
Ctsm	T	A	13: 61,687,441 (GRCm39)	Q107L	probably benign	Het
Ctso	G	A	3: 81,859,556 (GRCm39)	V288I	probably benign	Het
Cyp2a4	A	C	7: 26,007,969 (GRCm39)	K125N	probably damaging	Het
Dapk1	T	C	13: 60,896,014 (GRCm39)	S701P	probably benign	Het
Dnah1	A	G	14: 30,987,424 (GRCm39)		probably benign	Het
Dnah11	A	G	12: 118,095,076 (GRCm39)	M718T	probably benign	Het
Dnah2	C	A	11: 69,339,295 (GRCm39)	A3071S	probably damaging	Het
Epb41l4a	A	T	18: 33,961,155 (GRCm39)		probably null	Het
Fam135a	A	T	1: 24,053,892 (GRCm39)	M1215K	probably damaging	Het
Gm6489	T	A	1: 31,326,764 (GRCm39)		noncoding transcript	Het
Hhipl1	A	G	12: 108,284,976 (GRCm39)	Y443C	probably damaging	Het
Hoxc13	G	A	15: 102,829,873 (GRCm39)	G84D	possibly damaging	Het
Ifi207	T	C	1: 173,555,128 (GRCm39)	I851M	probably damaging	Het
Lipk	T	G	19: 33,999,107 (GRCm39)	L134R	probably damaging	Het
Mov10l1	A	G	15: 88,896,345 (GRCm39)	N678D	possibly damaging	Het
Msrb3	A	T	10: 120,620,119 (GRCm39)	F67I	probably damaging	Het
Myo1a	A	G	10: 127,550,767 (GRCm39)	D593G	probably benign	Het
Nsf	C	T	11: 103,821,578 (GRCm39)	E26K	possibly damaging	Het
Nup210l	A	T	3: 90,114,701 (GRCm39)	M1759L	probably benign	Het
Optn	C	A	2: 5,039,009 (GRCm39)	M371I	possibly damaging	Het
Rims1	A	T	1: 22,443,667 (GRCm39)	V380D	probably damaging	Het
Rnf148	A	G	6: 23,654,064 (GRCm39)	C311R	possibly damaging	Het
Rrp12	T	C	19: 41,874,167 (GRCm39)	D377G	probably damaging	Het
Sbp	T	A	17: 24,164,556 (GRCm39)		probably benign	Het
Sipa1	T	C	19: 5,704,885 (GRCm39)	E570G	probably damaging	Het
Syngr4	T	C	7: 45,545,194 (GRCm39)	E5G	possibly damaging	Het
Tmem88b	A	G	4: 155,869,884 (GRCm39)	L59P	probably damaging	Het
Ttn	T	A	2: 76,620,703 (GRCm39)	K13995*	probably null	Het
Vmn1r69	A	G	7: 10,314,069 (GRCm39)	Y221H	possibly damaging	Het
Zfp386	T	A	12: 116,023,170 (GRCm39)	L296*	probably null	Het

Other mutations in Spem2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01407:Spem2	APN	11	69,708,065 (GRCm39)	missense	possibly damaging	0.53
IGL02208:Spem2	APN	11	69,708,089 (GRCm39)	splice site	probably null
IGL02315:Spem2	APN	11	69,708,191 (GRCm39)	missense	probably damaging	0.98
IGL02325:Spem2	APN	11	69,707,789 (GRCm39)	missense	probably benign	0.00
IGL02877:Spem2	APN	11	69,708,521 (GRCm39)	missense	probably benign	0.16
R1476:Spem2	UTSW	11	69,708,896 (GRCm39)	missense	probably benign	0.05
R1928:Spem2	UTSW	11	69,708,290 (GRCm39)	missense	probably benign	0.03
R3811:Spem2	UTSW	11	69,707,990 (GRCm39)	missense	possibly damaging	0.72
R4271:Spem2	UTSW	11	69,708,251 (GRCm39)	missense	probably damaging	0.98
R4717:Spem2	UTSW	11	69,708,609 (GRCm39)	missense	probably benign	0.37
R4997:Spem2	UTSW	11	69,708,558 (GRCm39)	missense	probably benign	0.06
R5114:Spem2	UTSW	11	69,707,973 (GRCm39)	missense	probably benign	0.33
R6137:Spem2	UTSW	11	69,707,522 (GRCm39)	nonsense	probably null
R6302:Spem2	UTSW	11	69,709,091 (GRCm39)	missense	possibly damaging	0.71
R6454:Spem2	UTSW	11	69,708,254 (GRCm39)	missense	probably damaging	0.97
R6923:Spem2	UTSW	11	69,708,603 (GRCm39)	missense	probably damaging	0.99
R7000:Spem2	UTSW	11	69,708,582 (GRCm39)	missense	probably benign
R8516:Spem2	UTSW	11	69,707,721 (GRCm39)	missense	possibly damaging	0.53
R9132:Spem2	UTSW	11	69,707,414 (GRCm39)	unclassified	probably benign

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