Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01904:Speer1m'

179620

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Speer1m

Ensembl Gene

ENSMUSG00000067848

Gene Name

spermatogenesis associated glutamate (E)-rich protein 1M

Synonyms

4933402N22Rik

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL01904

Quality Score

Status

Chromosome

Chromosomal Location

11968010-11972771 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 11971423 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 125 (N125T)

Ref Sequence

ENSEMBL: ENSMUSP00000130317 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000170301]

AlphaFold

A3KN63

Predicted Effect

unknown
Transcript: ENSMUST00000168329
AA Change: N157T

SMART Domains

Protein: ENSMUSP00000130833
Gene: ENSMUSG00000067848
AA Change: N157T

Domain	Start	End	E-Value	Type
Pfam:Takusan	39	125	5.2e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170301
AA Change: N125T

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000130317
Gene: ENSMUSG00000067848
AA Change: N125T

Domain	Start	End	E-Value	Type
Pfam:Takusan	6	92	1e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200042

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Dnah5	T	C	15: 28,307,510 (GRCm39)	I1746T	probably benign	Het
Eml3	T	C	19: 8,914,130 (GRCm39)		probably benign	Het
Eml6	C	A	11: 29,788,613 (GRCm39)	E491*	probably null	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Hs3st2	C	T	7: 121,100,207 (GRCm39)	P351L	probably damaging	Het
Igf2r	A	T	17: 12,933,798 (GRCm39)	Y819N	probably damaging	Het
Kifc3	C	A	8: 95,864,585 (GRCm39)	A42S	possibly damaging	Het
Mrps17	A	G	5: 129,793,865 (GRCm39)	T20A	probably damaging	Het
Msh6	T	C	17: 88,292,160 (GRCm39)	V305A	probably benign	Het
Or6b1	T	C	6: 42,815,223 (GRCm39)	M136T	possibly damaging	Het
Or7e176	T	G	9: 20,171,586 (GRCm39)	M150R	probably damaging	Het
Pappa2	A	G	1: 158,611,511 (GRCm39)	L1484P	probably damaging	Het
Polr3c	A	T	3: 96,623,981 (GRCm39)		probably null	Het
Ros1	C	A	10: 51,954,007 (GRCm39)	E1877D	probably damaging	Het
Slc5a4b	T	C	10: 75,896,260 (GRCm39)	N565S	probably damaging	Het
Slf2	T	C	19: 44,937,580 (GRCm39)		probably null	Het
Suclg2	A	T	6: 95,565,915 (GRCm39)		probably benign	Het
Sult2a8	T	C	7: 14,159,382 (GRCm39)	E79G	probably damaging	Het
Triobp	A	G	15: 78,851,564 (GRCm39)	T573A	possibly damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Zfand5	C	T	19: 21,257,122 (GRCm39)		probably benign	Het
Zfhx4	C	A	3: 5,477,769 (GRCm39)	H3461Q	probably damaging	Het

Other mutations in Speer1m

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Speer1m	APN	5	11,971,377 (GRCm39)	missense	possibly damaging	0.85
R6029:Speer1m	UTSW	5	11,970,680 (GRCm39)	missense	probably damaging	0.99
R6575:Speer1m	UTSW	5	11,970,612 (GRCm39)	nonsense	probably null
R7238:Speer1m	UTSW	5	11,970,712 (GRCm39)	missense
R8493:Speer1m	UTSW	5	11,971,489 (GRCm39)	missense	probably damaging	0.99
R9361:Speer1m	UTSW	5	11,970,646 (GRCm39)	missense
Z1177:Speer1m	UTSW	5	11,968,094 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07