Mutagenetix > Incidental Mutation

Incidental Mutation 'R8160:Spmip7'

633479

Institutional Source

Beutler Lab

Gene Symbol

Spmip7

Ensembl Gene

ENSMUSG00000020191

Gene Name

sperm microtubule inner protein 7

Synonyms

Spata48, post meiotic spermatogenesis 1, 4930415F15Rik

MMRRC Submission

067586-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R8160 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

11412094-11465192 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 11437734 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 246 (S246P)

Ref Sequence

ENSEMBL: ENSMUSP00000020410 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020410] [ENSMUST00000109678]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000020410
AA Change: S246P

SMART Domains

Protein: ENSMUSP00000020410
Gene: ENSMUSG00000020191
AA Change: S246P

Domain	Start	End	E-Value	Type
Pfam:DUF4540	90	217	2.5e-67	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109678

SMART Domains

Protein: ENSMUSP00000105300
Gene: ENSMUSG00000020191

Domain	Start	End	E-Value	Type
Pfam:DUF4540	17	146	4.6e-70	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.7%

Validation Efficiency

100% (32/32)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam12	C	T	7: 133,569,770 (GRCm39)		probably null	Het
Aldh8a1	A	G	10: 21,271,690 (GRCm39)	D472G	possibly damaging	Het
Appl1	T	C	14: 26,650,592 (GRCm39)	I527V	probably benign	Het
Arhgef4	C	A	1: 34,762,655 (GRCm39)	T637K	unknown	Het
Atp7b	G	A	8: 22,487,575 (GRCm39)	A1273V	probably damaging	Het
Ccl20	T	A	1: 83,095,543 (GRCm39)	S35T		Het
Cdh24	C	A	14: 54,875,946 (GRCm39)	V208F	probably damaging	Het
Dchs2	A	T	3: 83,178,112 (GRCm39)	Q1055L	probably benign	Het
Dock8	G	A	19: 25,124,711 (GRCm39)	R1009Q	probably damaging	Het
Ext2	A	T	2: 93,644,107 (GRCm39)	V58E	probably benign	Het
Fam209	A	T	2: 172,314,645 (GRCm39)	I45F	possibly damaging	Het
Hfm1	T	C	5: 107,043,899 (GRCm39)	Y579C	probably null	Het
Hipk4	C	T	7: 27,223,186 (GRCm39)	A82V	possibly damaging	Het
Il17rc	A	G	6: 113,453,489 (GRCm39)	Y223C	possibly damaging	Het
Itsn1	G	A	16: 91,615,446 (GRCm39)	R397H	unknown	Het
Kdm5b	T	A	1: 134,541,657 (GRCm39)	M744K	probably damaging	Het
Mettl16	T	C	11: 74,708,505 (GRCm39)	V568A	probably damaging	Het
Mink1	C	T	11: 70,496,907 (GRCm39)	Q422*	probably null	Het
Mvb12b	G	T	2: 33,730,234 (GRCm39)	D81E	probably benign	Het
Nostrin	A	T	2: 69,009,810 (GRCm39)	I313F	probably damaging	Het
Nsun6	A	G	2: 15,014,219 (GRCm39)		probably null	Het
Nt5dc1	T	A	10: 34,200,392 (GRCm39)	E209V	possibly damaging	Het
Oasl2	T	C	5: 115,039,347 (GRCm39)		probably benign	Het
Or10a49	C	T	7: 108,467,995 (GRCm39)	R122Q	possibly damaging	Het
Or6aa1	C	T	7: 86,044,473 (GRCm39)	V78M	possibly damaging	Het
Or7e166	T	A	9: 19,624,085 (GRCm39)		probably benign	Het
Ppm1h	A	T	10: 122,638,341 (GRCm39)	T204S	probably benign	Het
Rad51b	T	A	12: 79,350,115 (GRCm39)	L70I	probably benign	Het
Smok3c	A	G	5: 138,063,286 (GRCm39)	T258A	possibly damaging	Het
Snai2	T	C	16: 14,524,668 (GRCm39)	V58A	possibly damaging	Het
St6galnac1	G	A	11: 116,666,316 (GRCm39)		probably benign	Het
Tasor	T	A	14: 27,171,913 (GRCm39)	N420K	probably damaging	Het

Other mutations in Spmip7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01567:Spmip7	APN	11	11,465,015 (GRCm39)	missense	possibly damaging	0.71
R1618:Spmip7	UTSW	11	11,438,641 (GRCm39)	unclassified	probably benign
R1625:Spmip7	UTSW	11	11,438,644 (GRCm39)	unclassified	probably benign
R2113:Spmip7	UTSW	11	11,440,293 (GRCm39)	splice site	probably null
R4788:Spmip7	UTSW	11	11,438,652 (GRCm39)	splice site	probably null
R5439:Spmip7	UTSW	11	11,440,244 (GRCm39)	missense	possibly damaging	0.53
R5932:Spmip7	UTSW	11	11,438,513 (GRCm39)	unclassified	probably benign
R6529:Spmip7	UTSW	11	11,465,009 (GRCm39)	missense	possibly damaging	0.71
R9264:Spmip7	UTSW	11	11,414,678 (GRCm39)	missense
R9773:Spmip7	UTSW	11	11,438,572 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ACACTTAAAGGGTAACTGTGGG -3'
(R):5'- TGGTGCTCACATTACATGGATC -3'

Sequencing Primer
(F):5'- CTTAAAGGGTAACTGTGGGTGGAG -3'
(R):5'- TAGCCAGCATGGAATCTC -3'

Posted On

2020-07-13