Mutagenetix > Incidental Mutation

Incidental Mutation 'R8068:Speer2'

620130

Institutional Source

Beutler Lab

Gene Symbol

Speer2

Ensembl Gene

ENSMUSG00000063163

Gene Name

spermatogenesis associated glutamate (E)-rich protein 2

Synonyms

SPEER-2

MMRRC Submission

067503-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R8068 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

69653762-69660617 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69657412 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 77 (H77R)

Ref Sequence

ENSEMBL: ENSMUSP00000075821 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076500] [ENSMUST00000166256]

AlphaFold

E9Q9U2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076500
AA Change: H77R

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000075821
Gene: ENSMUSG00000063163
AA Change: H77R

Domain	Start	End	E-Value	Type
Pfam:Takusan	51	137	6.3e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166256

SMART Domains

Protein: ENSMUSP00000130270
Gene: ENSMUSG00000063163

Domain	Start	End	E-Value	Type
Pfam:Takusan	1	49	2.3e-14	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam39	T	A	8: 41,278,975 (GRCm39)	D455E	not run	Het
Aldoc	T	C	11: 78,215,553 (GRCm39)	F79S	possibly damaging	Het
Atmin	A	G	8: 117,683,389 (GRCm39)	S350G	probably benign	Het
Bms1	A	G	6: 118,390,711 (GRCm39)	F206S	probably damaging	Het
Carmil1	T	A	13: 24,259,711 (GRCm39)	I698L	probably benign	Het
Cd47	T	A	16: 49,715,779 (GRCm39)	S182T		Het
Ces2e	G	T	8: 105,659,629 (GRCm39)		probably null	Het
Cfap251	A	G	5: 123,394,229 (GRCm39)	S373G	not run	Het
Cit	C	A	5: 116,090,525 (GRCm39)	H906Q	probably damaging	Het
Cit	T	C	5: 116,120,294 (GRCm39)	S1370P	probably benign	Het
Dchs2	T	C	3: 83,207,745 (GRCm39)	F1739L	probably benign	Het
Dlx4	T	C	11: 95,036,156 (GRCm39)	Y51C	possibly damaging	Het
Drosha	T	A	15: 12,883,276 (GRCm39)	Y796*	probably null	Het
Elf1	T	A	14: 79,773,830 (GRCm39)	F14I	probably benign	Het
Fam135b	T	C	15: 71,404,827 (GRCm39)	Q73R	probably damaging	Het
Gatad1	T	C	5: 3,693,540 (GRCm39)	R210G	probably benign	Het
Gls2	C	G	10: 128,030,983 (GRCm39)	R81G	unknown	Het
Hnrnpll	T	C	17: 80,358,281 (GRCm39)	M157V	possibly damaging	Het
Itgb3	T	A	11: 104,556,337 (GRCm39)	M726K	probably benign	Het
Kcna10	T	G	3: 107,101,726 (GRCm39)	M119R	possibly damaging	Het
Kcnh1	A	G	1: 191,924,250 (GRCm39)	T155A	probably benign	Het
Kctd9	T	A	14: 67,962,111 (GRCm39)	D51E	unknown	Het
Lgr6	T	C	1: 134,991,402 (GRCm39)	I129V	probably benign	Het
Lrrfip1	A	T	1: 91,055,824 (GRCm39)	D598V	probably damaging	Het
Ltbp4	G	T	7: 27,023,593 (GRCm39)	Q850K	probably damaging	Het
Mdm1	A	G	10: 117,982,709 (GRCm39)	R115G	possibly damaging	Het
Mns1	A	C	9: 72,355,809 (GRCm39)		probably null	Het
Mthfs	G	A	9: 89,093,288 (GRCm39)	R14Q	probably damaging	Het
Muc2	T	A	7: 141,298,422 (GRCm39)	S25T		Het
Ncapd3	T	C	9: 26,974,657 (GRCm39)	S710P	possibly damaging	Het
Nrip1	T	A	16: 76,089,841 (GRCm39)	H572L	possibly damaging	Het
Nrp2	C	T	1: 62,784,567 (GRCm39)	R239C	probably damaging	Het
Opa3	A	G	7: 18,978,910 (GRCm39)	E125G	probably damaging	Het
Or52p1	T	A	7: 104,267,460 (GRCm39)	C191*	probably null	Het
Or5ap2	A	G	2: 85,680,150 (GRCm39)	E118G	probably damaging	Het
Or5w19	A	G	2: 87,698,995 (GRCm39)	Y220C	probably benign	Het
P3h1	A	G	4: 119,094,059 (GRCm39)	Y238C	probably damaging	Het
Pappa2	T	C	1: 158,763,555 (GRCm39)	D652G	possibly damaging	Het
Pcdha11	T	A	18: 37,138,618 (GRCm39)	N82K	probably damaging	Het
Pde4b	T	C	4: 102,453,212 (GRCm39)	I293T	probably damaging	Het
Prrc2c	TTGCTGCTGCTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGCTGCTGCTGC	1: 162,536,630 (GRCm39)		probably benign	Het
Qki	T	C	17: 10,537,732 (GRCm39)	D24G	possibly damaging	Het
Rbpjl	A	G	2: 164,250,438 (GRCm39)	K197E	possibly damaging	Het
Rnf111	A	T	9: 70,365,223 (GRCm39)	S415T	probably benign	Het
Scyl1	A	G	19: 5,810,853 (GRCm39)	V488A	probably damaging	Het
Slc1a6	G	C	10: 78,648,706 (GRCm39)	V476L	possibly damaging	Het
Slc22a17	A	T	14: 55,146,365 (GRCm39)	F84I	probably benign	Het
Slc22a4	A	C	11: 53,888,269 (GRCm39)	I253S	possibly damaging	Het
Speg	T	C	1: 75,398,894 (GRCm39)	S2114P	probably damaging	Het
Synpo2	T	A	3: 122,911,041 (GRCm39)	R201S	possibly damaging	Het
Ttpa	C	A	4: 20,028,419 (GRCm39)	H225Q	probably damaging	Het
Vmn1r45	A	T	6: 89,910,261 (GRCm39)	H236Q	possibly damaging	Het
Vmn2r7	A	T	3: 64,623,507 (GRCm39)	V271D	probably benign	Het
Zfp53	A	T	17: 21,729,274 (GRCm39)	T436S	probably benign	Het

Other mutations in Speer2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00693:Speer2	APN	16	69,657,406 (GRCm39)	missense	probably benign	0.01
IGL01115:Speer2	APN	16	69,658,539 (GRCm39)	nonsense	probably null
IGL01694:Speer2	APN	16	69,655,001 (GRCm39)	missense	probably damaging	1.00
IGL01694:Speer2	APN	16	69,655,000 (GRCm39)	missense	probably damaging	0.98
IGL02738:Speer2	APN	16	69,658,600 (GRCm39)	missense	probably benign
IGL03024:Speer2	APN	16	69,655,003 (GRCm39)	missense	possibly damaging	0.95
IGL03062:Speer2	APN	16	69,654,865 (GRCm39)	missense	probably damaging	0.96
R0054:Speer2	UTSW	16	69,655,640 (GRCm39)	missense	probably damaging	0.99
R1248:Speer2	UTSW	16	69,653,955 (GRCm39)	splice site	probably null
R1952:Speer2	UTSW	16	69,654,052 (GRCm39)	missense	probably damaging	0.96
R1993:Speer2	UTSW	16	69,654,965 (GRCm39)	missense	probably benign	0.01
R1995:Speer2	UTSW	16	69,654,965 (GRCm39)	missense	probably benign	0.01
R2063:Speer2	UTSW	16	69,657,385 (GRCm39)	missense	probably benign	0.02
R2155:Speer2	UTSW	16	69,657,485 (GRCm39)	missense	possibly damaging	0.63
R2216:Speer2	UTSW	16	69,655,730 (GRCm39)	missense	possibly damaging	0.94
R4547:Speer2	UTSW	16	69,655,737 (GRCm39)	missense	probably damaging	0.98
R4548:Speer2	UTSW	16	69,655,737 (GRCm39)	missense	probably damaging	0.98
R4625:Speer2	UTSW	16	69,655,642 (GRCm39)	nonsense	probably null
R4692:Speer2	UTSW	16	69,654,860 (GRCm39)	missense	possibly damaging	0.91
R4841:Speer2	UTSW	16	69,654,988 (GRCm39)	missense	probably benign	0.26
R4842:Speer2	UTSW	16	69,654,988 (GRCm39)	missense	probably benign	0.26
R5035:Speer2	UTSW	16	69,654,829 (GRCm39)	critical splice donor site	probably null
R5133:Speer2	UTSW	16	69,655,708 (GRCm39)	missense	probably null	0.06
R5812:Speer2	UTSW	16	69,655,783 (GRCm39)	missense	possibly damaging	0.82
R6348:Speer2	UTSW	16	69,654,895 (GRCm39)	missense	possibly damaging	0.83
R6854:Speer2	UTSW	16	69,655,775 (GRCm39)	missense	probably damaging	0.96
R7446:Speer2	UTSW	16	69,654,965 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- CTGCCTCTCCACTATGAAGC -3'
(R):5'- GCTGTCACTAGTTTCCAGGC -3'

Sequencing Primer
(F):5'- CATGGGGACTATCTGGTGATACAGC -3'
(R):5'- GTCACTAGTTTCCAGGCATGTTC -3'

Posted On

2020-01-23