Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01582:Speer1j'

91383

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Speer1j

Ensembl Gene

ENSMUSG00000095296

Gene Name

spermatogenesis associated glutamate (E)-rich protein 1J

Synonyms

Gm8906

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL01582

Quality Score

Status

Chromosome

Chromosomal Location

11552652-11557384 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11555240 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 70 (T70A)

Ref Sequence

ENSEMBL: ENSMUSP00000136666 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000164651] [ENSMUST00000179375]

AlphaFold

J3QNA6

Predicted Effect

probably benign
Transcript: ENSMUST00000164651
AA Change: T97A

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000128633
Gene: ENSMUSG00000095296
AA Change: T97A

Domain	Start	End	E-Value	Type
Pfam:Takusan	30	116	3e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000179375
AA Change: T70A

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000136666
Gene: ENSMUSG00000095296
AA Change: T70A

Domain	Start	End	E-Value	Type
Pfam:Takusan	2	90	5.6e-30	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197456

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aurkb	G	A	11: 68,939,605 (GRCm39)	V201I	probably damaging	Het
Csmd2	G	T	4: 128,457,098 (GRCm39)	E212*	probably null	Het
Dsg1a	G	T	18: 20,461,905 (GRCm39)	K335N	probably null	Het
Epn2	A	G	11: 61,412,695 (GRCm39)	S430P	probably benign	Het
Ezh2	A	T	6: 47,532,989 (GRCm39)	Y144*	probably null	Het
Fcgbp	G	T	7: 27,793,067 (GRCm39)	D1024Y	probably benign	Het
Gramd2b	A	G	18: 56,618,488 (GRCm39)	E232G	probably damaging	Het
Inf2	A	G	12: 112,576,993 (GRCm39)	K989R	unknown	Het
Lrpprc	G	A	17: 85,061,971 (GRCm39)	A577V	probably null	Het
Mansc1	T	A	6: 134,598,836 (GRCm39)	N27I	possibly damaging	Het
Nr1i3	A	T	1: 171,042,541 (GRCm39)	I56F	possibly damaging	Het
Ntpcr	T	C	8: 126,471,981 (GRCm39)	S64P	probably benign	Het
Or52e19b	A	T	7: 103,032,806 (GRCm39)	Y134*	probably null	Het
Ppwd1	A	G	13: 104,350,212 (GRCm39)	I391T	probably benign	Het
Serpinb3d	A	G	1: 107,007,396 (GRCm39)	F197L	probably damaging	Het
Siglecf	A	G	7: 43,008,145 (GRCm39)	N553D	possibly damaging	Het
Slc2a2	A	G	3: 28,762,637 (GRCm39)	D60G	probably benign	Het
Spsb4	T	G	9: 96,878,143 (GRCm39)	D60A	probably damaging	Het
Tnnt1	T	C	7: 4,512,982 (GRCm39)	E100G	probably damaging	Het
Zmiz1	T	C	14: 25,658,654 (GRCm39)	M938T	probably benign	Het

Other mutations in Speer1j

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02690:Speer1j	APN	5	11,555,228 (GRCm39)	nonsense	probably null
IGL02744:Speer1j	APN	5	11,555,340 (GRCm39)	missense	possibly damaging	0.93
R4617:Speer1j	UTSW	5	11,553,798 (GRCm39)	missense	probably benign	0.00
R7135:Speer1j	UTSW	5	11,555,198 (GRCm39)	missense	probably damaging	0.99

Posted On

2013-12-09