Mutagenetix > Incidental Mutation

Incidental Mutation 'R5376:Spmip9'

425558

Institutional Source

Beutler Lab

Gene Symbol

Spmip9

Ensembl Gene

ENSMUSG00000051896

Gene Name

sperm microtubule inner protein 9

Synonyms

1700011F03Rik, Tex37

MMRRC Submission

042952-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5376 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70890071-70895911 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 70890466 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 109 (A109S)

Ref Sequence

ENSEMBL: ENSMUSP00000066786 (fasta)

Gene Model

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

AlphaFold

Q9DAG4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000063456
AA Change: A109S

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000066786
Gene: ENSMUSG00000051896
AA Change: A109S

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	G	C	11: 119,902,860 (GRCm39)	S512W	probably damaging	Het
Abcc2	A	T	19: 43,818,339 (GRCm39)	N1275I	possibly damaging	Het
Adgb	T	C	10: 10,222,307 (GRCm39)	T1455A	probably benign	Het
Cnnm3	T	A	1: 36,559,759 (GRCm39)	L566H	probably damaging	Het
Coa8	A	G	12: 111,696,492 (GRCm39)	D142G	probably damaging	Het
Dennd4b	C	T	3: 90,185,363 (GRCm39)	P1229L	probably benign	Het
Dsc1	T	G	18: 20,221,503 (GRCm39)	K657N	probably benign	Het
Dzip1	C	T	14: 119,148,805 (GRCm39)	M291I	probably damaging	Het
Eef1d	G	T	15: 75,775,038 (GRCm39)	T207N	probably benign	Het
Eif4g1	T	A	16: 20,502,577 (GRCm39)	Y955N	probably damaging	Het
Evi5l	T	C	8: 4,260,770 (GRCm39)	T1016A	probably damaging	Het
Fcrl6	G	A	1: 172,426,847 (GRCm39)	T33M	probably damaging	Het
Golga3	T	C	5: 110,368,811 (GRCm39)		probably null	Het
Gpbp1	T	C	13: 111,563,176 (GRCm39)	N425D	probably damaging	Het
Igkv12-46	A	C	6: 69,741,520 (GRCm39)	W112G	probably benign	Het
Kdelr3	T	A	15: 79,410,061 (GRCm39)	V182E	possibly damaging	Het
Kif15	T	A	9: 122,823,036 (GRCm39)	N700K	probably benign	Het
Mycbp2	A	T	14: 103,479,868 (GRCm39)	L1169*	probably null	Het
Myof	A	G	19: 37,904,848 (GRCm39)	Y905H	probably damaging	Het
Or10h1b	A	T	17: 33,395,621 (GRCm39)	I82F	probably damaging	Het
Or52e5	A	T	7: 104,719,564 (GRCm39)	T297S	probably damaging	Het
Or5b113	A	T	19: 13,342,762 (GRCm39)	M257L	possibly damaging	Het
Otud7b	T	A	3: 96,060,841 (GRCm39)		probably null	Het
Pde4d	T	C	13: 109,909,178 (GRCm39)	C197R	probably benign	Het
Pde8b	T	C	13: 95,162,654 (GRCm39)	T823A	probably benign	Het
Plekha5	C	T	6: 140,496,870 (GRCm39)	T140M	probably damaging	Het
Plekhg2	G	A	7: 28,062,094 (GRCm39)	R594W	probably damaging	Het
Potefam1	T	C	2: 111,045,944 (GRCm39)	D286G	probably benign	Het
Ppp2r1b	C	T	9: 50,778,228 (GRCm39)	A315V	possibly damaging	Het
Psg25	A	T	7: 18,260,460 (GRCm39)	I146N	probably benign	Het
Psg26	A	T	7: 18,214,030 (GRCm39)	S211T	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGT	11: 3,103,384 (GRCm39)		probably benign	Het
Slc5a9	A	T	4: 111,750,414 (GRCm39)	V148E	possibly damaging	Het
Txndc15	T	G	13: 55,866,032 (GRCm39)	N165K	probably damaging	Het
Zfp493	T	C	13: 67,934,437 (GRCm39)	I130T	possibly damaging	Het

Other mutations in Spmip9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00940:Spmip9	APN	6	70,890,372 (GRCm39)	missense	probably benign	0.12
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
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

Predicted Primers

PCR Primer
(F):5'- CGGGTATTCTCACACGTCTAC -3'
(R):5'- AGTTTTACCAGCCCAAGCCC -3'

Sequencing Primer
(F):5'- CACGTCTACTGGTAAAATGGCATC -3'
(R):5'- CAACCCCAACCCCAAGCTG -3'

Posted On

2016-08-04