Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02298:Speer1d'

290222

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Speer1d

Ensembl Gene

ENSMUSG00000096846

Gene Name

spermatogenesis associated glutamate (E)-rich protein 1D

Synonyms

Gm8890

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL02298

Quality Score

Status

Chromosome

Chromosomal Location

11306000-11310461 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 11307158 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 12 (L12R)

Ref Sequence

ENSEMBL: ENSMUSP00000136387 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000177727]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000164262
AA Change: L14R

SMART Domains

Protein: ENSMUSP00000127049
Gene: ENSMUSG00000096846
AA Change: L14R

Domain	Start	End	E-Value	Type
Pfam:Takusan	6	92	4.6e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000177727
AA Change: L12R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000136387
Gene: ENSMUSG00000096846
AA Change: L12R

Domain	Start	End	E-Value	Type
Pfam:Takusan	2	90	4.2e-31	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197751

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahctf1	A	G	1: 179,580,044 (GRCm39)	S2053P	probably benign	Het
Alkbh2	C	T	5: 114,263,633 (GRCm39)	E125K	probably benign	Het
Cd226	A	T	18: 89,225,175 (GRCm39)	D24V	probably damaging	Het
Clec2m	T	A	6: 129,308,527 (GRCm39)	M1L	probably benign	Het
Dync1h1	G	A	12: 110,607,322 (GRCm39)	E2638K	probably damaging	Het
Fbxw5	G	A	2: 25,394,456 (GRCm39)	W143*	probably null	Het
Galk2	T	C	2: 125,701,290 (GRCm39)	S5P	probably benign	Het
Gtf2h2	A	G	13: 100,617,547 (GRCm39)	V205A	probably damaging	Het
Helb	C	A	10: 119,937,431 (GRCm39)	Q604H	probably damaging	Het
Ifih1	A	G	2: 62,440,783 (GRCm39)		probably null	Het
Map7d1	T	C	4: 126,127,714 (GRCm39)	E675G	unknown	Het
Or8b48	C	T	9: 38,492,809 (GRCm39)	P79S	probably damaging	Het
Shc4	T	C	2: 125,491,074 (GRCm39)	H488R	probably damaging	Het
Zfhx4	G	A	3: 5,309,364 (GRCm39)		probably null	Het
Zfp451	A	T	1: 33,812,002 (GRCm39)	N904K	probably damaging	Het

Other mutations in Speer1d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R6214:Speer1d	UTSW	5	11,307,197 (GRCm39)	missense	probably damaging	0.99
R6215:Speer1d	UTSW	5	11,307,197 (GRCm39)	missense	probably damaging	0.99
R6511:Speer1d	UTSW	5	11,307,275 (GRCm39)	missense	probably benign	0.09

Posted On

2015-04-16