Mutagenetix > Incidental Mutation

Incidental Mutation 'R7446:Speer2'

577323

Institutional Source

Beutler Lab

Gene Symbol

Speer2

Ensembl Gene

ENSMUSG00000063163

Gene Name

spermatogenesis associated glutamate (E)-rich protein 2

Synonyms

SPEER-2

MMRRC Submission

045522-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.183) question?

Stock #

R7446 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69856874-69863744 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 69858077 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 167 (S167T)

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: S167T

PolyPhen 2 Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000075821
Gene: ENSMUSG00000063163
AA Change: S167T

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

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	A	G	15: 8,232,080	D2460G	probably damaging	Het
4930407I10Rik	A	G	15: 82,066,240	D1446G	probably benign	Het
Adgrg1	A	G	8: 95,011,784	Y635C	probably damaging	Het
Akr1cl	G	A	1: 65,016,678	R222W	probably damaging	Het
C2	G	A	17: 34,876,010	R250C	probably damaging	Het
Cdk15	A	G	1: 59,289,695	Y254C	probably damaging	Het
Celsr1	T	C	15: 85,907,673	T2576A	possibly damaging	Het
Cfap61	C	T	2: 146,153,838	R1108C	probably benign	Het
Clca1	A	G	3: 145,027,427	S107P	possibly damaging	Het
Cpsf1	A	G	15: 76,601,750	S407P	probably benign	Het
Crisp4	T	C	1: 18,122,738	T252A	probably damaging	Het
Ctbs	A	G	3: 146,458,818	Y242C	probably damaging	Het
Cul4a	A	G	8: 13,136,874	T537A	probably benign	Het
D930020B18Rik	T	C	10: 121,667,745	I275T	possibly damaging	Het
Dcaf7	T	C	11: 106,053,735	V248A	probably benign	Het
Def8	T	C	8: 123,454,322	C153R	probably damaging	Het
Dennd1a	A	T	2: 37,816,979	V505D	possibly damaging	Het
Dpysl5	A	C	5: 30,778,887	D207A	probably benign	Het
Dync2h1	A	T	9: 7,041,720	S3307R	probably benign	Het
Enpp5	G	A	17: 44,085,264	G356S	probably damaging	Het
Erf	A	T	7: 25,246,131	C72S	probably damaging	Het
Fastkd3	A	T	13: 68,591,960	H47L	unknown	Het
Gm5591	C	T	7: 38,519,509	E647K	probably benign	Het
Gng12	TGTCCAGCAAG	TG	6: 67,015,752		probably benign	Het
Guk1	T	C	11: 59,186,024	T78A	probably benign	Het
Hephl1	T	C	9: 15,098,051	T82A	probably damaging	Het
Htra4	A	G	8: 25,037,165	S205P	probably benign	Het
Jakmip2	T	C	18: 43,577,325	D271G	probably damaging	Het
Krt16	CAGTATCTG	C	11: 100,246,784		probably null	Het
Lrp1b	T	A	2: 41,671,057	E286V		Het
Lrp2	C	A	2: 69,432,213	G4415W	probably damaging	Het
Lrp2	C	T	2: 69,459,674	R3607H	probably damaging	Het
Mcph1	A	G	8: 18,671,093	K646E	probably benign	Het
Mgam	T	C	6: 40,746,332	L457P	probably damaging	Het
Mink1	T	A	11: 70,609,629	S802T	probably benign	Het
Mrgprb5	C	T	7: 48,168,504	G161E	possibly damaging	Het
Mroh1	G	A	15: 76,452,272	G1565D	possibly damaging	Het
Mynn	A	G	3: 30,607,052	K51R	probably benign	Het
Myo1b	A	G	1: 51,763,906	F872S	possibly damaging	Het
Nbas	A	T	12: 13,393,498	T1185S	probably benign	Het
Oas1d	A	T	5: 120,919,991	I333L	probably benign	Het
Olfr1331	A	T	4: 118,868,822	I14F	possibly damaging	Het
Olfr1425	A	G	19: 12,073,697	*312Q	probably null	Het
P2ry12	A	G	3: 59,217,211	*348Q	probably null	Het
Pik3cb	A	T	9: 99,046,658	V848E	probably damaging	Het
Plcz1	A	C	6: 140,013,586	S282A	possibly damaging	Het
Prss46	A	G	9: 110,850,121	D130G	probably damaging	Het
Pygl	T	C	12: 70,197,010	I644V	probably benign	Het
Ralgds	T	A	2: 28,545,889	S509T	probably damaging	Het
Rdh16f2	A	G	10: 127,876,898	D255G	probably benign	Het
Scaf4	T	C	16: 90,258,770	D133G	unknown	Het
Sdk1	G	A	5: 142,144,976	S1630N	probably damaging	Het
Sema5b	C	T	16: 35,647,203	T279I	probably damaging	Het
Slc24a3	T	A	2: 145,580,982	L207H	probably damaging	Het
Spock1	A	G	13: 57,436,085	I339T	unknown	Het
Srsf6	T	A	2: 162,934,716	S327T	unknown	Het
Syne1	T	A	10: 5,222,266	E5058D	probably benign	Het
Tcf19	A	G	17: 35,514,531	V243A	probably benign	Het
Tspan15	T	C	10: 62,193,955	D122G	probably benign	Het
Ttc17	C	T	2: 94,375,150	V284M	probably damaging	Het
Usp29	A	C	7: 6,961,220	T21P	possibly damaging	Het
Uspl1	T	A	5: 149,204,272	C360*	probably null	Het
Vmn1r181	A	C	7: 23,984,931	S274R	probably benign	Het
Xrcc5	T	C	1: 72,393,973		probably null	Het
Zfp277	C	T	12: 40,328,730	R376H	probably damaging	Het
Zfp629	T	C	7: 127,611,029	E536G	probably benign	Het

Other mutations in Speer2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00693:Speer2	APN	16	69860518	missense	probably benign	0.01
IGL01115:Speer2	APN	16	69861651	nonsense	probably null
IGL01694:Speer2	APN	16	69858112	missense	probably damaging	0.98
IGL01694:Speer2	APN	16	69858113	missense	probably damaging	1.00
IGL02738:Speer2	APN	16	69861712	missense	probably benign
IGL03024:Speer2	APN	16	69858115	missense	possibly damaging	0.95
IGL03062:Speer2	APN	16	69857977	missense	probably damaging	0.96
R0054:Speer2	UTSW	16	69858752	missense	probably damaging	0.99
R1248:Speer2	UTSW	16	69857067	splice site	probably null
R1952:Speer2	UTSW	16	69857164	missense	probably damaging	0.96
R1993:Speer2	UTSW	16	69858077	missense	probably benign	0.01
R1995:Speer2	UTSW	16	69858077	missense	probably benign	0.01
R2063:Speer2	UTSW	16	69860497	missense	probably benign	0.02
R2155:Speer2	UTSW	16	69860597	missense	possibly damaging	0.63
R2216:Speer2	UTSW	16	69858842	missense	possibly damaging	0.94
R4547:Speer2	UTSW	16	69858849	missense	probably damaging	0.98
R4548:Speer2	UTSW	16	69858849	missense	probably damaging	0.98
R4625:Speer2	UTSW	16	69858754	nonsense	probably null
R4692:Speer2	UTSW	16	69857972	missense	possibly damaging	0.91
R4841:Speer2	UTSW	16	69858100	missense	probably benign	0.26
R4842:Speer2	UTSW	16	69858100	missense	probably benign	0.26
R5035:Speer2	UTSW	16	69857941	critical splice donor site	probably null
R5133:Speer2	UTSW	16	69858820	missense	probably null	0.06
R5812:Speer2	UTSW	16	69858895	missense	possibly damaging	0.82
R6348:Speer2	UTSW	16	69858007	missense	possibly damaging	0.83
R6854:Speer2	UTSW	16	69858887	missense	probably damaging	0.96
R8068:Speer2	UTSW	16	69860524	missense	possibly damaging	0.84

Predicted Primers

PCR Primer
(F):5'- GGTGTCAGACAGTATTAGCTTGAC -3'
(R):5'- GGGCTGCAGCAATAATTTCTTC -3'

Sequencing Primer
(F):5'- CAGACAGTATTAGCTTGACTGAGTTG -3'
(R):5'- CCCTGAAATGGCTGTTTGC -3'

Posted On

2019-10-07