Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00940:Spmip9'

27643

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spmip9

Ensembl Gene

ENSMUSG00000051896

Gene Name

sperm microtubule inner protein 9

Synonyms

1700011F03Rik, Tex37

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00940

Quality Score

Status

Chromosome

Chromosomal Location

70890071-70895911 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 70890372 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 140 (R140L)

Ref Sequence

ENSEMBL: ENSMUSP00000066786 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063456]

AlphaFold

Q9DAG4

Predicted Effect

probably benign
Transcript: ENSMUST00000063456
AA Change: R140L

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000066786
Gene: ENSMUSG00000051896
AA Change: R140L

Domain	Start	End	E-Value	Type
Pfam:TSC21	1	180	4.3e-107	PFAM

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
Anks1	A	G	17: 28,276,328 (GRCm39)	N1024D	probably damaging	Het
Cts7	A	G	13: 61,504,723 (GRCm39)		probably null	Het
Dock3	T	A	9: 106,788,576 (GRCm39)		probably benign	Het
Fbxo6	A	G	4: 148,230,567 (GRCm39)	F232L	probably benign	Het
Hsd3b6	A	T	3: 98,713,940 (GRCm39)	F120I	probably damaging	Het
Il4ra	G	A	7: 125,168,347 (GRCm39)		probably null	Het
Irs4	A	T	X: 140,505,140 (GRCm39)	F1019I	unknown	Het
Klc1	A	G	12: 111,753,932 (GRCm39)	T464A	probably damaging	Het
Mical3	T	C	6: 120,999,371 (GRCm39)	T660A	possibly damaging	Het
Ndufs7	T	A	10: 80,090,955 (GRCm39)	V158E	probably damaging	Het
Nhs	T	A	X: 160,620,226 (GRCm39)	N1510I	probably damaging	Het
Or51e2	A	G	7: 102,391,469 (GRCm39)	V247A	probably damaging	Het
Or8k38	T	G	2: 86,488,070 (GRCm39)	H244P	probably damaging	Het
Pole2	G	A	12: 69,262,134 (GRCm39)	T148I	probably damaging	Het
Pramel1	T	A	4: 143,124,126 (GRCm39)	L267H	probably damaging	Het
Rag1	T	C	2: 101,472,733 (GRCm39)	E803G	probably damaging	Het
Rassf1	G	T	9: 107,435,510 (GRCm39)		probably benign	Het
Rnf220	T	C	4: 117,164,872 (GRCm39)	K210R	probably benign	Het
Setd7	T	A	3: 51,440,459 (GRCm39)	D194V	probably damaging	Het
Snd1	T	C	6: 28,745,174 (GRCm39)		probably benign	Het
Ssb	T	A	2: 69,701,179 (GRCm39)		probably null	Het
Tlr5	T	C	1: 182,801,761 (GRCm39)	V355A	possibly damaging	Het
Ush2a	A	T	1: 188,090,158 (GRCm39)	R414*	probably null	Het
Zfyve26	A	G	12: 79,327,674 (GRCm39)	S559P	probably benign	Het

Other mutations in Spmip9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02323:Spmip9	APN	6	70,890,679 (GRCm39)	splice site	probably benign
IGL02693:Spmip9	APN	6	70,890,488 (GRCm39)	missense	possibly damaging	0.71
IGL03161:Spmip9	APN	6	70,890,519 (GRCm39)	missense	probably benign	0.08
R1734:Spmip9	UTSW	6	70,890,645 (GRCm39)	missense	probably benign	0.12
R3408:Spmip9	UTSW	6	70,892,690 (GRCm39)	missense	possibly damaging	0.52
R3956:Spmip9	UTSW	6	70,890,469 (GRCm39)	missense	possibly damaging	0.93
R3981:Spmip9	UTSW	6	70,890,283 (GRCm39)	missense	possibly damaging	0.71
R5084:Spmip9	UTSW	6	70,892,688 (GRCm39)	missense	possibly damaging	0.86
R5376:Spmip9	UTSW	6	70,890,466 (GRCm39)	missense	possibly damaging	0.84
R7532:Spmip9	UTSW	6	70,890,621 (GRCm39)	missense	probably benign	0.37
R8317:Spmip9	UTSW	6	70,890,276 (GRCm39)	missense	possibly damaging	0.85
R9468:Spmip9	UTSW	6	70,890,627 (GRCm39)	missense	probably benign

Posted On

2013-04-17