Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02718:Spmip4'

304860

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spmip4

Ensembl Gene

ENSMUSG00000029828

Gene Name

sperm microtubule inner protein 4

Synonyms

4921507P07Rik

Accession Numbers

Essential gene?

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

Stock #

IGL02718

Quality Score

Status

Chromosome

Chromosomal Location

50550282-50573612 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 50561367 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 184 (T184K)

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: T184K

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

SMART Domains

Protein: ENSMUSP00000031852
Gene: ENSMUSG00000029828
AA Change: T184K

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002J24Rik	A	G	7: 30,399,329 (GRCm39)	D41G	probably damaging	Het
2210408I21Rik	T	A	13: 77,322,991 (GRCm39)	Y7N	probably damaging	Het
Atf1	C	A	15: 100,152,100 (GRCm39)	Q151K	probably damaging	Het
Brdt	T	C	5: 107,497,934 (GRCm39)		probably benign	Het
Cep295	T	C	9: 15,237,049 (GRCm39)		probably null	Het
Ctnnd2	A	G	15: 31,027,762 (GRCm39)	S1229G	probably damaging	Het
Dcaf15	T	A	8: 84,825,005 (GRCm39)	I476L	possibly damaging	Het
Dlec1	A	G	9: 118,966,354 (GRCm39)	I1108V	probably benign	Het
Dnah9	T	A	11: 65,777,466 (GRCm39)	H3694L	probably damaging	Het
Dock10	A	T	1: 80,501,535 (GRCm39)	D1838E	probably benign	Het
Dusp12	A	T	1: 170,708,226 (GRCm39)	Y164N	probably damaging	Het
Ephx1	A	G	1: 180,827,351 (GRCm39)	F101L	probably damaging	Het
Fbn1	C	A	2: 125,211,806 (GRCm39)	C864F	probably damaging	Het
Fbxw24	T	C	9: 109,453,858 (GRCm39)	E96G	possibly damaging	Het
Glt1d1	C	A	5: 127,727,763 (GRCm39)	F78L	probably damaging	Het
Gm9602	A	T	14: 15,932,620 (GRCm39)	R21*	probably null	Het
Grip1	T	A	10: 119,911,420 (GRCm39)	*713K	probably null	Het
Hecw1	T	C	13: 14,481,520 (GRCm39)		probably null	Het
Il31ra	G	A	13: 112,666,903 (GRCm39)	R392*	probably null	Het
L3hypdh	T	G	12: 72,131,630 (GRCm39)	S101R	probably damaging	Het
Lpar5	T	A	6: 125,059,207 (GRCm39)	D309E	probably damaging	Het
Masp1	T	C	16: 23,295,043 (GRCm39)	Y406C	probably damaging	Het
Mpdz	T	C	4: 81,303,439 (GRCm39)	I166M	probably damaging	Het
Nbea	A	T	3: 55,539,483 (GRCm39)	Y2759*	probably null	Het
Ncf1	A	T	5: 134,256,302 (GRCm39)		probably null	Het
Nek5	T	G	8: 22,587,479 (GRCm39)	R314S	probably benign	Het
Nifk	A	C	1: 118,255,362 (GRCm39)	N38T	probably damaging	Het
Obscn	C	T	11: 58,968,684 (GRCm39)	V2772M	probably damaging	Het
Or10g9	A	T	9: 39,912,182 (GRCm39)	Y114N	probably damaging	Het
Or10z1	G	T	1: 174,078,273 (GRCm39)	Y73*	probably null	Het
Or2b28	T	C	13: 21,531,554 (GRCm39)	L152P	probably damaging	Het
Or2d3	A	T	7: 106,490,536 (GRCm39)	M260K	probably damaging	Het
Or52r1c	C	A	7: 102,734,790 (GRCm39)	L22I	probably benign	Het
Or5k17	T	C	16: 58,746,459 (GRCm39)	I158M	possibly damaging	Het
Pbxip1	A	G	3: 89,355,311 (GRCm39)	E610G	probably damaging	Het
Pfas	G	T	11: 68,890,971 (GRCm39)		probably benign	Het
Plk4	T	C	3: 40,769,456 (GRCm39)	S102P	probably damaging	Het
Ptprz1	C	T	6: 23,001,348 (GRCm39)	T1146I	possibly damaging	Het
Pum2	T	A	12: 8,783,344 (GRCm39)	S598T	probably benign	Het
Ric1	T	A	19: 29,510,640 (GRCm39)	W74R	probably damaging	Het
Riok3	C	A	18: 12,286,053 (GRCm39)	S427*	probably null	Het
Ros1	A	T	10: 51,994,328 (GRCm39)	D1317E	probably damaging	Het
Sfmbt2	A	G	2: 10,406,842 (GRCm39)	D47G	possibly damaging	Het
Slc12a1	C	T	2: 125,002,999 (GRCm39)	R177*	probably null	Het
Snai3	C	A	8: 123,182,861 (GRCm39)		probably null	Het
Snx19	A	G	9: 30,343,556 (GRCm39)	N572S	possibly damaging	Het
Soat1	A	T	1: 156,268,999 (GRCm39)	S151T	probably benign	Het
Stbd1	A	G	5: 92,751,077 (GRCm39)	E37G	possibly damaging	Het
Syt10	A	G	15: 89,698,282 (GRCm39)	I354T	probably damaging	Het
Trip11	A	C	12: 101,852,284 (GRCm39)	S593R	probably benign	Het
Ubr1	T	C	2: 120,745,364 (GRCm39)	E908G	probably damaging	Het
Yy1	T	C	12: 108,781,405 (GRCm39)	F357L	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
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
R1173:Spmip4	UTSW	6	50,566,121 (GRCm39)	missense	probably damaging	0.98
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

Posted On

2015-04-16