Mutagenetix > Incidental Mutation

Incidental Mutation 'R5035:Speer2'

389520

Institutional Source

Beutler Lab

Gene Symbol

Speer2

Ensembl Gene

ENSMUSG00000063163

Gene Name

spermatogenesis associated glutamate (E)-rich protein 2

Synonyms

SPEER-2

MMRRC Submission

042626-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R5035 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69856874-69863744 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 69857941 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000075821 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076500] [ENSMUST00000164146] [ENSMUST00000166256]

AlphaFold

E9Q9U2

Predicted Effect

probably null
Transcript: ENSMUST00000076500

SMART Domains

Protein: ENSMUSP00000075821
Gene: ENSMUSG00000063163

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164146

SMART Domains

Protein: ENSMUSP00000126059
Gene: ENSMUSG00000063163

Domain	Start	End	E-Value	Type
Pfam:Takusan	33	121	1.9e-33	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

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

98% (46/47)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat1	T	C	9: 53,583,510	I361V	probably benign	Het
Afp	A	G	5: 90,507,905	D583G	probably benign	Het
Bcas3	C	T	11: 85,543,945	A552V	probably damaging	Het
Bfsp2	T	G	9: 103,479,866	T121P	probably benign	Het
Bicra	C	T	7: 15,979,424	R951Q	possibly damaging	Het
Cdc40	G	A	10: 40,849,813	T220I	probably benign	Het
Cdk5rap3	T	C	11: 96,916,085		probably benign	Het
Clcnka	A	T	4: 141,395,158	Y179*	probably null	Het
Creb3l1	T	A	2: 91,987,086	I361F	probably benign	Het
Csmd3	T	C	15: 47,590,779	Y3557C	probably damaging	Het
Dab2ip	A	G	2: 35,709,941	S190G	probably benign	Het
Dbx1	T	C	7: 49,632,536	H307R	unknown	Het
Dock8	C	A	19: 25,086,207	P258T	probably damaging	Het
Eml6	T	C	11: 29,854,187	I305V	probably benign	Het
Frem3	T	A	8: 80,615,914	F1612Y	probably damaging	Het
Fubp1	A	G	3: 152,214,851	T76A	probably benign	Het
Glmp	G	C	3: 88,326,644		probably benign	Het
Gm20918	A	G	Y: 5,045,992	Q183R	probably benign	Het
Krt28	T	C	11: 99,366,824	N397S	probably benign	Het
Lin9	T	A	1: 180,669,198	L351I	probably benign	Het
Map3k13	T	C	16: 21,921,671	Y583H	probably benign	Het
Mcm3	A	T	1: 20,803,418		probably benign	Het
Misp	T	C	10: 79,827,956	V588A	probably benign	Het
Olfr1202	A	T	2: 88,818,099	K309N	probably benign	Het
Olfr348	A	G	2: 36,786,891	D122G	probably damaging	Het
Olfr373	T	A	8: 72,100,078	L106H	probably damaging	Het
Olfr644	G	A	7: 104,068,407	T208I	possibly damaging	Het
Olfr970	G	A	9: 39,820,094	A152T	possibly damaging	Het
Osbpl9	A	G	4: 109,066,167	F449L	probably damaging	Het
Pkhd1l1	A	G	15: 44,568,324	D3358G	probably damaging	Het
Prodh2	A	T	7: 30,506,479	S247C	possibly damaging	Het
Prr23a3	G	A	9: 98,865,130	E46K	possibly damaging	Het
Ptprz1	A	G	6: 23,016,215	I837V	probably benign	Het
Rabgap1l	A	C	1: 160,724,036	F263V	probably damaging	Het
Rnf4	A	G	5: 34,351,339	K182E	probably damaging	Het
Slc24a2	G	T	4: 87,011,706	R469S	possibly damaging	Het
Tcrg-C4	G	T	13: 19,352,336	R188L	unknown	Het
Tg	C	A	15: 66,681,813		probably null	Het
Tns1	G	A	1: 73,953,820		probably benign	Het
Top2b	G	T	14: 16,409,966	A878S	probably benign	Het
Ugt3a2	G	A	15: 9,361,618	R160Q	probably benign	Het
Ush2a	G	T	1: 188,910,808	L4122F	probably damaging	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
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
R7446:Speer2	UTSW	16	69858077	missense	possibly damaging	0.82
R8068:Speer2	UTSW	16	69860524	missense	possibly damaging	0.84

Predicted Primers

PCR Primer
(F):5'- TCTCACAAGAGGCTAACTTCCC -3'
(R):5'- GGCTGCAGGATCTTACTATGCAG -3'

Sequencing Primer
(F):5'- GAGGCTAACTTCCCAGAATATGTGTG -3'
(R):5'- CAGGATCTTACTATGCAGAGGGTG -3'

Posted On

2016-06-06