Mutagenetix > Incidental Mutation

Incidental Mutation 'R8137:Spmip10'

632329

Institutional Source

Beutler Lab

Gene Symbol

Spmip10

Ensembl Gene

ENSMUSG00000032900

Gene Name

sperm microtubule inner protein 10

Synonyms

Tex43, 1700065I17Rik

MMRRC Submission

067565-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

R8137 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56721422-56727854 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56727653 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 117 (D117G)

Ref Sequence

ENSEMBL: ENSMUSP00000038152 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035640] [ENSMUST00000127591]

AlphaFold

Q9D9I1

Predicted Effect

probably damaging
Transcript: ENSMUST00000035640
AA Change: D117G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000038152
Gene: ENSMUSG00000032900
AA Change: D117G

Domain	Start	End	E-Value	Type
Pfam:DUF4513	3	140	9.3e-75	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127591

SMART Domains

Protein: ENSMUSP00000117284
Gene: ENSMUSG00000032900

Domain	Start	End	E-Value	Type
Pfam:DUF4513	1	72	2.7e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147775

SMART Domains

Protein: ENSMUSP00000115084
Gene: ENSMUSG00000032900

Domain	Start	End	E-Value	Type
Pfam:DUF4513	1	82	8.6e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000153248

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.8%
20x: 96.4%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankfn1	T	G	11: 89,344,003 (GRCm39)	Q326H	probably benign	Het
Carf	G	A	1: 60,187,124 (GRCm39)	V576I	probably benign	Het
Ccnl1	C	T	3: 65,865,291 (GRCm39)	D87N	possibly damaging	Het
Cgref1	T	A	5: 31,091,749 (GRCm39)	D111V	possibly damaging	Het
Cnot4	G	A	6: 35,023,222 (GRCm39)	P567S	unknown	Het
Cyp7b1	A	T	3: 18,151,765 (GRCm39)	D149E	probably benign	Het
Dcc	A	T	18: 71,511,783 (GRCm39)	D877E	probably benign	Het
Dhx8	T	A	11: 101,654,808 (GRCm39)	I1032N	probably damaging	Het
Dnah7b	A	G	1: 46,272,913 (GRCm39)	Y2347C	probably damaging	Het
Dtx3	A	G	10: 127,029,041 (GRCm39)	S63P	possibly damaging	Het
Dyrk2	C	T	10: 118,695,789 (GRCm39)	E490K	probably benign	Het
Fcgbp	A	C	7: 27,804,496 (GRCm39)	Y1868S	probably damaging	Het
Foxa2	T	C	2: 147,885,768 (GRCm39)	H355R	probably benign	Het
Fpr-rs7	A	G	17: 20,334,055 (GRCm39)	V145A	possibly damaging	Het
Gm14137	A	T	2: 119,005,837 (GRCm39)	E132V	probably benign	Het
Gpn2	T	C	4: 133,315,873 (GRCm39)	S211P	possibly damaging	Het
Greb1l	A	T	18: 10,474,357 (GRCm39)	Q224L	possibly damaging	Het
Gspt1	A	G	16: 11,058,532 (GRCm39)	V144A	probably benign	Het
Ifi204	A	G	1: 173,589,188 (GRCm39)	I81T	possibly damaging	Het
Il27ra	T	A	8: 84,767,720 (GRCm39)		probably null	Het
Kif21a	T	C	15: 90,852,645 (GRCm39)	T862A	probably benign	Het
Klf2	T	C	8: 73,074,088 (GRCm39)		probably null	Het
Kmt2e	A	G	5: 23,706,952 (GRCm39)	Y1505C	probably damaging	Het
Mcm9	T	C	10: 53,499,076 (GRCm39)	T216A		Het
Muc16	T	C	9: 18,556,972 (GRCm39)	E3107G	unknown	Het
Ncor2	C	T	5: 125,114,957 (GRCm39)	V169I		Het
Oas3	T	C	5: 120,915,565 (GRCm39)	Q42R	probably benign	Het
Or2l5	A	G	16: 19,333,846 (GRCm39)	V180A	possibly damaging	Het
Or4p8	T	C	2: 88,727,013 (GRCm39)	*309W	probably null	Het
Pde10a	A	G	17: 9,193,647 (GRCm39)	Y693C	possibly damaging	Het
Pde11a	T	C	2: 76,041,383 (GRCm39)	E429G	possibly damaging	Het
Pramel23	A	G	4: 143,425,835 (GRCm39)	F36S	probably damaging	Het
Pygo1	A	G	9: 72,852,140 (GRCm39)	H109R	probably damaging	Het
Rbsn	A	T	6: 92,167,003 (GRCm39)	V547D	probably benign	Het
Ros1	A	G	10: 52,001,933 (GRCm39)	I1084T	possibly damaging	Het
Sis	T	C	3: 72,796,378 (GRCm39)	D1801G	probably benign	Het
Slco4c1	C	T	1: 96,748,970 (GRCm39)	G649E	probably damaging	Het
Sptbn2	A	T	19: 4,787,431 (GRCm39)	I914F	possibly damaging	Het
Srebf2	C	T	15: 82,062,966 (GRCm39)	R468C	probably damaging	Het
Strc	C	T	2: 121,197,219 (GRCm39)	G1503R	probably damaging	Het
Sv2c	T	A	13: 96,225,171 (GRCm39)	Y46F	probably damaging	Het
Tctn3	A	T	19: 40,593,785 (GRCm39)	W462R	probably damaging	Het
Tjp3	T	C	10: 81,109,525 (GRCm39)	D857G	probably benign	Het
Tor1aip2	C	T	1: 155,939,414 (GRCm39)	T242I	possibly damaging	Het
Ttn	T	A	2: 76,800,273 (GRCm39)	I312F	unknown	Het
Vezt	T	C	10: 93,775,154 (GRCm39)	N94D		Het
Vmn2r105	T	C	17: 20,454,966 (GRCm39)	N57D	probably benign	Het
Wdr59	T	C	8: 112,212,011 (GRCm39)	D353G		Het
Ykt6	T	C	11: 5,909,368 (GRCm39)	V59A	probably damaging	Het
Ypel3	T	G	7: 126,377,269 (GRCm39)	V54G	possibly damaging	Het
Zfp386	T	A	12: 116,023,268 (GRCm39)	C329S	possibly damaging	Het
Zfp451	A	T	1: 33,821,156 (GRCm39)	L232H	possibly damaging	Het
Zfp648	A	G	1: 154,081,110 (GRCm39)	H423R	probably damaging	Het
Zfp729b	T	C	13: 67,740,861 (GRCm39)	Y468C	probably damaging	Het

Other mutations in Spmip10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02487:Spmip10	APN	18	56,727,571 (GRCm39)	missense	possibly damaging	0.74
R1570:Spmip10	UTSW	18	56,727,606 (GRCm39)	missense	probably benign	0.06
R2062:Spmip10	UTSW	18	56,721,535 (GRCm39)	nonsense	probably null
R4411:Spmip10	UTSW	18	56,727,720 (GRCm39)	missense	probably benign	0.03
R4970:Spmip10	UTSW	18	56,725,494 (GRCm39)	missense	possibly damaging	0.71
R5543:Spmip10	UTSW	18	56,727,760 (GRCm39)	utr 3 prime	probably benign
R8056:Spmip10	UTSW	18	56,727,763 (GRCm39)	missense
R8165:Spmip10	UTSW	18	56,722,547 (GRCm39)	intron	probably benign
R8786:Spmip10	UTSW	18	56,727,568 (GRCm39)	missense	probably damaging	0.99
R8919:Spmip10	UTSW	18	56,725,537 (GRCm39)	missense	probably damaging	1.00
R9600:Spmip10	UTSW	18	56,725,450 (GRCm39)	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- ACACAATCTGGTTCTGGCGTG -3'
(R):5'- AAACTCGGTAGGCAAGATGC -3'

Sequencing Primer
(F):5'- GCTGTTCAGCAAAGCGTTTTC -3'
(R):5'- GGCAAGAGACTGAACTACTTTATC -3'

Posted On

2020-06-30