Mutagenetix > Incidental Mutation

Incidental Mutation 'R1173:Spmip4'

99688

Institutional Source

Beutler Lab

Gene Symbol

Spmip4

Ensembl Gene

ENSMUSG00000029828

Gene Name

sperm microtubule inner protein 4

Synonyms

4921507P07Rik

MMRRC Submission

039246-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R1173 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

50550282-50573612 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 50566121 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 118 (K118M)

Ref Sequence

ENSEMBL: ENSMUSP00000031852 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031852]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000031852
AA Change: K118M

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000031852
Gene: ENSMUSG00000029828
AA Change: K118M

Domain	Start	End	E-Value	Type
Pfam:DUF4555	1	283	2e-149	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126537

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147260

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.7%
20x: 87.9%

Validation Efficiency

99% (72/73)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accsl	A	T	2: 93,696,589 (GRCm39)		probably benign	Het
Adam30	G	A	3: 98,070,222 (GRCm39)	S685N	probably benign	Het
Adamts12	T	C	15: 11,071,843 (GRCm39)	V129A	probably benign	Het
Agxt2	T	C	15: 10,373,837 (GRCm39)	F81S	probably damaging	Het
Ahnak2	A	T	12: 112,749,409 (GRCm39)	I186N	probably damaging	Het
Amz1	A	T	5: 140,737,691 (GRCm39)		probably null	Het
Anapc5	G	A	5: 122,926,481 (GRCm39)	A619V	possibly damaging	Het
Aoc1l3	C	A	6: 48,967,173 (GRCm39)	P707H	probably damaging	Het
Bbox1	T	C	2: 110,095,956 (GRCm39)	D336G	probably damaging	Het
Bivm	A	G	1: 44,165,942 (GRCm39)	T131A	probably benign	Het
Bpi	A	T	2: 158,109,660 (GRCm39)	I203F	probably benign	Het
Cd151	A	C	7: 141,050,569 (GRCm39)	T241P	probably damaging	Het
Cdh20	G	A	1: 109,988,862 (GRCm39)	V255I	probably benign	Het
Cdh23	G	A	10: 60,148,171 (GRCm39)		probably benign	Het
Cul9	C	G	17: 46,833,101 (GRCm39)	A1326P	probably damaging	Het
Dclre1b	A	C	3: 103,711,192 (GRCm39)	S240A	probably benign	Het
Ddc	A	C	11: 11,796,634 (GRCm39)		probably null	Het
Dkk1	T	C	19: 30,524,650 (GRCm39)	R252G	probably damaging	Het
Dmrtc2	T	A	7: 24,573,738 (GRCm39)	M191K	possibly damaging	Het
Eml6	A	G	11: 29,699,824 (GRCm39)	S1771P	possibly damaging	Het
Emx1	T	C	6: 85,165,353 (GRCm39)		probably benign	Het
Fah	T	C	7: 84,250,344 (GRCm39)	M1V	probably null	Het
Fmo6	A	T	1: 162,753,710 (GRCm39)	M144K	probably damaging	Het
Frem1	A	G	4: 82,868,589 (GRCm39)	V1445A	probably benign	Het
Fsd2	T	C	7: 81,209,518 (GRCm39)	D108G	probably benign	Het
Gfm2	A	G	13: 97,301,708 (GRCm39)		probably null	Het
Ghrhr	T	A	6: 55,365,254 (GRCm39)	L416*	probably null	Het
Glipr1l2	C	A	10: 111,919,371 (GRCm39)	L31I	possibly damaging	Het
Gm19965	T	A	1: 116,748,550 (GRCm39)		probably benign	Het
Gpr149	A	G	3: 62,511,888 (GRCm39)	L37P	probably damaging	Het
Hoxa9	A	G	6: 52,202,693 (GRCm39)	I131T	probably damaging	Het
Htra4	T	C	8: 25,520,635 (GRCm39)	D342G	possibly damaging	Het
Idh1	G	T	1: 65,200,319 (GRCm39)	N348K	probably benign	Het
Impdh2	T	C	9: 108,439,028 (GRCm39)	F99S	probably benign	Het
Kank4	T	C	4: 98,653,806 (GRCm39)	Y874C	probably damaging	Het
Kazn	A	T	4: 141,886,349 (GRCm39)		probably benign	Het
Kcnq3	T	A	15: 65,871,891 (GRCm39)	T593S	probably benign	Het
Lamc1	T	C	1: 153,122,977 (GRCm39)		probably benign	Het
Magi3	A	G	3: 103,968,946 (GRCm39)		probably null	Het
Map3k19	A	G	1: 127,751,617 (GRCm39)	V578A	probably benign	Het
Meox2	T	C	12: 37,159,151 (GRCm39)	C108R	possibly damaging	Het
Nlrp9c	C	A	7: 26,079,860 (GRCm39)	C722F	probably damaging	Het
Or2a5	T	C	6: 42,874,285 (GRCm39)	V300A	probably benign	Het
Pde10a	C	T	17: 9,139,378 (GRCm39)		probably benign	Het
Ppfia4	A	G	1: 134,260,021 (GRCm39)		probably benign	Het
Psg18	T	C	7: 18,088,742 (GRCm39)	M1V	probably null	Het
Qtrt1	A	G	9: 21,323,782 (GRCm39)	T136A	probably benign	Het
Retsat	T	C	6: 72,580,634 (GRCm39)		probably benign	Het
Rxfp2	T	C	5: 149,975,021 (GRCm39)	V210A	probably benign	Het
Sfswap	G	A	5: 129,584,207 (GRCm39)		probably null	Het
Slc16a7	A	T	10: 125,067,241 (GRCm39)	L133I	possibly damaging	Het
Slc30a3	A	T	5: 31,244,154 (GRCm39)	M376K	probably damaging	Het
Srbd1	C	T	17: 86,405,940 (GRCm39)	C620Y	probably null	Het
Trip10	T	A	17: 57,560,363 (GRCm39)	L100Q	probably damaging	Het
Tyrp1	C	T	4: 80,763,105 (GRCm39)	Q331*	probably null	Het
Vangl2	G	T	1: 171,832,353 (GRCm39)	T501N	probably damaging	Het
Vdr	A	T	15: 97,767,214 (GRCm39)	Y185N	probably benign	Het
Vmn1r123	C	T	7: 20,896,257 (GRCm39)	P50S	probably damaging	Het
Vmn1r158	T	A	7: 22,489,870 (GRCm39)	H113L	probably benign	Het
Vmn2r12	A	T	5: 109,240,720 (GRCm39)	I131N	probably benign	Het
Vmn2r72	T	A	7: 85,401,152 (GRCm39)	E89V	probably damaging	Het
Xrcc6	A	G	15: 81,915,364 (GRCm39)	D94G	probably damaging	Het
Zbtb32	T	A	7: 30,290,692 (GRCm39)	E201V	possibly damaging	Het
Zfp185	A	T	X: 72,042,929 (GRCm39)	E138D	possibly damaging	Het
Zmynd11	T	A	13: 9,739,585 (GRCm39)	H437L	probably damaging	Het

Other mutations in Spmip4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00852:Spmip4	APN	6	50,566,164 (GRCm39)	critical splice acceptor site	probably null
IGL01310:Spmip4	APN	6	50,551,175 (GRCm39)	missense	probably benign
IGL01568:Spmip4	APN	6	50,550,678 (GRCm39)	utr 3 prime	probably benign
IGL01794:Spmip4	APN	6	50,554,826 (GRCm39)	missense	probably damaging	1.00
IGL02718:Spmip4	APN	6	50,561,367 (GRCm39)	missense	probably damaging	1.00
IGL03146:Spmip4	APN	6	50,550,853 (GRCm39)	missense	probably damaging	0.97
IGL03381:Spmip4	APN	6	50,566,116 (GRCm39)	missense	probably damaging	1.00
R1174:Spmip4	UTSW	6	50,566,121 (GRCm39)	missense	probably damaging	0.98
R1175:Spmip4	UTSW	6	50,566,121 (GRCm39)	missense	probably damaging	0.98
R1769:Spmip4	UTSW	6	50,568,801 (GRCm39)	splice site	probably benign
R1883:Spmip4	UTSW	6	50,551,433 (GRCm39)	missense	probably benign	0.01
R2056:Spmip4	UTSW	6	50,550,725 (GRCm39)	missense	possibly damaging	0.71
R2437:Spmip4	UTSW	6	50,560,959 (GRCm39)	missense	probably damaging	1.00
R2929:Spmip4	UTSW	6	50,551,285 (GRCm39)	missense	probably benign	0.07
R4357:Spmip4	UTSW	6	50,551,190 (GRCm39)	missense	probably benign
R4666:Spmip4	UTSW	6	50,572,808 (GRCm39)	missense	possibly damaging	0.69
R4791:Spmip4	UTSW	6	50,572,817 (GRCm39)	missense	probably damaging	1.00
R4827:Spmip4	UTSW	6	50,572,836 (GRCm39)	missense	possibly damaging	0.76
R4976:Spmip4	UTSW	6	50,566,164 (GRCm39)	critical splice acceptor site	probably null
R5453:Spmip4	UTSW	6	50,572,776 (GRCm39)	critical splice donor site	probably null
R6689:Spmip4	UTSW	6	50,566,089 (GRCm39)	critical splice donor site	probably null
R6897:Spmip4	UTSW	6	50,566,145 (GRCm39)	missense	possibly damaging	0.82
R7718:Spmip4	UTSW	6	50,566,078 (GRCm39)	splice site	probably null
R8475:Spmip4	UTSW	6	50,566,107 (GRCm39)	missense	probably damaging	0.99
R8885:Spmip4	UTSW	6	50,551,028 (GRCm39)	missense	possibly damaging	0.95
R8975:Spmip4	UTSW	6	50,561,391 (GRCm39)	missense	probably damaging	1.00
R9626:Spmip4	UTSW	6	50,550,930 (GRCm39)	missense
X0021:Spmip4	UTSW	6	50,550,906 (GRCm39)	missense	probably benign
Z1176:Spmip4	UTSW	6	50,551,001 (GRCm39)	missense	possibly damaging	0.55
Z1177:Spmip4	UTSW	6	50,568,672 (GRCm39)	missense	probably benign	0.17

Predicted Primers

Posted On

2014-01-15