Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01542:Spmip3'

90183

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spmip3

Ensembl Gene

ENSMUSG00000015962

Gene Name

sperm microtubule inner protein 3

Synonyms

1700016C15Rik

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL01542

Quality Score

Status

Chromosome

Chromosomal Location

177557380-177580890 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 177570950 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 95 (T95A)

Ref Sequence

ENSEMBL: ENSMUSP00000016106 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016106]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000016106
AA Change: T95A

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000016106
Gene: ENSMUSG00000015962
AA Change: T95A

Domain	Start	End	E-Value	Type
low complexity region	75	86	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

none

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap3	G	A	18: 38,123,889 (GRCm39)	R377C	probably damaging	Het
Arhgap20	A	G	9: 51,750,187 (GRCm39)	M316V	probably benign	Het
Chd7	T	G	4: 8,859,285 (GRCm39)	N2458K	possibly damaging	Het
Clock	T	C	5: 76,379,322 (GRCm39)	E538G	possibly damaging	Het
Clpb	G	A	7: 101,436,712 (GRCm39)	V596I	probably damaging	Het
Col9a3	T	C	2: 180,251,109 (GRCm39)		probably benign	Het
D130043K22Rik	G	A	13: 25,060,020 (GRCm39)		probably null	Het
Drd4	T	C	7: 140,873,744 (GRCm39)		probably benign	Het
Fam228b	A	T	12: 4,813,055 (GRCm39)	I105N	probably damaging	Het
Gm20939	A	T	17: 95,181,721 (GRCm39)		probably benign	Het
Gm4952	A	G	19: 12,595,771 (GRCm39)	T54A	possibly damaging	Het
Hbs1l	T	C	10: 21,183,655 (GRCm39)	V132A	probably benign	Het
Kpna2	T	A	11: 106,882,027 (GRCm39)	E266D	probably benign	Het
Lars1	T	C	18: 42,347,892 (GRCm39)	E977G	probably benign	Het
Lrrn4	T	C	2: 132,721,392 (GRCm39)	T142A	probably benign	Het
Myo19	T	C	11: 84,800,372 (GRCm39)	L919P	probably damaging	Het
Nhlrc1	A	T	13: 47,167,607 (GRCm39)	F217I	probably damaging	Het
Or10q12	T	C	19: 13,745,901 (GRCm39)	F65S	probably damaging	Het
Plch1	T	C	3: 63,639,070 (GRCm39)	I468V	probably damaging	Het
Rergl	T	A	6: 139,470,496 (GRCm39)		probably null	Het
Sctr	A	G	1: 119,972,499 (GRCm39)		probably benign	Het
Sdhb	T	C	4: 140,700,278 (GRCm39)	V126A	probably benign	Het
Smad3	C	T	9: 63,562,868 (GRCm39)	R214Q	probably damaging	Het
Tdrd9	T	C	12: 112,013,423 (GRCm39)	M1219T	possibly damaging	Het
Tmem167b	A	T	3: 108,466,222 (GRCm39)	N75K	possibly damaging	Het
Vmn2r83	T	C	10: 79,314,846 (GRCm39)	S365P	probably benign	Het
Vps16	T	C	2: 130,280,314 (GRCm39)	F153L	probably damaging	Het

Other mutations in Spmip3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01385:Spmip3	APN	1	177,568,640 (GRCm39)	missense	probably benign
IGL02329:Spmip3	APN	1	177,570,867 (GRCm39)	missense	probably benign	0.05
N/A:Spmip3	UTSW	1	177,561,100 (GRCm39)	missense	probably damaging	0.99
R0850:Spmip3	UTSW	1	177,568,571 (GRCm39)	missense	probably benign
R7739:Spmip3	UTSW	1	177,570,828 (GRCm39)	missense	probably damaging	0.97
R9426:Spmip3	UTSW	1	177,570,834 (GRCm39)	nonsense	probably null
R9485:Spmip3	UTSW	1	177,580,545 (GRCm39)	missense	possibly damaging	0.90
Z1176:Spmip3	UTSW	1	177,568,583 (GRCm39)	missense	possibly damaging	0.95

Posted On

2013-12-03