Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02452:Spag5'

293689

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spag5

Ensembl Gene

ENSMUSG00000002055

Gene Name

sperm associated antigen 5

Synonyms

D11Bhm180e, Astrin, MAP126, Deepest, Mastrin, S17, s17

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02452

Quality Score

Status

Chromosome

Chromosomal Location

78301529-78322457 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78304623 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 252 (N252S)

Ref Sequence

ENSEMBL: ENSMUSP00000045286 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045026]

AlphaFold

Q7TME2

Predicted Effect

probably benign
Transcript: ENSMUST00000045026
AA Change: N252S

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000045286
Gene: ENSMUSG00000002055
AA Change: N252S

Domain	Start	End	E-Value	Type
low complexity region	405	420	N/A	INTRINSIC
low complexity region	477	493	N/A	INTRINSIC
coiled coil region	514	547	N/A	INTRINSIC
coiled coil region	638	700	N/A	INTRINSIC
coiled coil region	743	854	N/A	INTRINSIC
low complexity region	898	912	N/A	INTRINSIC
coiled coil region	970	1006	N/A	INTRINSIC
coiled coil region	1032	1068	N/A	INTRINSIC
coiled coil region	1104	1140	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133579

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146068

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein associated with the mitotic spindle apparatus. The encoded protein may be involved in the functional and dynamic regulation of mitotic spindles. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted mutation are viable and fertile with normal breeding and mating behavio; no abnormalities in male reproductive system anatomy or histology or in spermatogenesis were detectable. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadm	C	A	3: 153,941,970	V11F	probably damaging	Het
Alk	A	T	17: 71,902,625	Y941*	probably null	Het
Armc4	C	T	18: 7,129,461	E906K	probably damaging	Het
Blm	A	T	7: 80,503,377		probably null	Het
Blvrb	T	C	7: 27,459,340	V55A	possibly damaging	Het
Cdh23	T	A	10: 60,317,942	T2288S	probably damaging	Het
Csnk1g1	T	A	9: 66,007,785	M242K	probably damaging	Het
Cyp2c29	G	A	19: 39,290,847	G96D	possibly damaging	Het
Cyp2d26	T	A	15: 82,792,626	H173L	probably benign	Het
Cyp2g1	T	A	7: 26,811,446	S131T	probably benign	Het
Dupd1	G	A	14: 21,702,922	T52I	probably damaging	Het
Dzip3	T	A	16: 48,938,537		probably benign	Het
Espl1	T	C	15: 102,299,839	S427P	probably damaging	Het
Fasn	A	T	11: 120,808,180	D2424E	probably benign	Het
Flrt2	G	A	12: 95,779,483	M198I	probably benign	Het
Gen1	A	T	12: 11,242,575	S404R	probably benign	Het
Gm11596	A	T	11: 99,792,980	C105S	unknown	Het
Gm8765	A	T	13: 50,703,077	H917L	probably damaging	Het
Hdlbp	A	T	1: 93,417,511	V714D	probably damaging	Het
Igkv4-80	A	G	6: 69,016,832	V25A	probably benign	Het
Igkv8-27	C	T	6: 70,171,941	W76*	probably null	Het
Ikzf1	T	C	11: 11,748,545	L132P	probably damaging	Het
Kcna6	C	A	6: 126,738,480	C482F	possibly damaging	Het
Lhx9	A	T	1: 138,841,842	L47Q	probably damaging	Het
Lrp4	T	A	2: 91,474,002	D175E	probably damaging	Het
Lrrtm3	T	C	10: 64,088,036	K451E	probably damaging	Het
Mcm9	C	T	10: 53,541,557	V17M	probably damaging	Het
Mios	T	A	6: 8,222,492	S475R	probably benign	Het
Mmp24	C	T	2: 155,815,788	R533C	probably damaging	Het
Moxd1	C	T	10: 24,282,752	P435S	probably damaging	Het
Mta2	T	A	19: 8,950,306	I497N	probably benign	Het
Mtus2	T	C	5: 148,077,663	V422A	probably benign	Het
Ndufaf1	A	T	2: 119,656,426	F260Y	probably damaging	Het
Nfasc	C	T	1: 132,620,924		probably null	Het
Nid1	A	T	13: 13,508,720	T1128S	probably benign	Het
Olfr583	A	G	7: 103,051,931	D211G	probably benign	Het
Pcdh12	G	A	18: 38,281,693	P793L	probably benign	Het
Pclo	A	T	5: 14,676,966		probably benign	Het
Prpf31	T	A	7: 3,634,186	N161K	possibly damaging	Het
Prpf6	T	G	2: 181,649,085	N656K	probably benign	Het
Ptprn	T	A	1: 75,258,169	H258L	probably benign	Het
Rab19	A	G	6: 39,389,798	T216A	probably benign	Het
Ryr3	A	C	2: 112,833,990	L1652W	probably damaging	Het
Six2	A	C	17: 85,685,378	S232R	possibly damaging	Het
Spag17	T	C	3: 100,027,391	V663A	probably benign	Het
Sptb	C	T	12: 76,609,036		probably null	Het
Synj1	A	G	16: 90,961,365		probably benign	Het
Tekt2	T	C	4: 126,324,852	H36R	possibly damaging	Het
Tjp1	A	T	7: 65,312,655	M1258K	probably damaging	Het
Txnrd3	T	C	6: 89,674,795	*502Q	probably null	Het

Other mutations in Spag5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01380:Spag5	APN	11	78304617	missense	possibly damaging	0.62
IGL01820:Spag5	APN	11	78304259	missense	probably benign	0.06
IGL02066:Spag5	APN	11	78304532	missense	probably benign
IGL02140:Spag5	APN	11	78315633	missense	possibly damaging	0.62
IGL02251:Spag5	APN	11	78320034	missense	probably damaging	1.00
IGL02658:Spag5	APN	11	78321331	nonsense	probably null
boyardee	UTSW	11	78313191	critical splice donor site	probably null
Franco	UTSW	11	78314182	nonsense	probably null
spaghetto	UTSW	11	78313379	nonsense	probably null
IGL02991:Spag5	UTSW	11	78314251	missense	probably damaging	0.99
R0477:Spag5	UTSW	11	78314198	missense	probably damaging	1.00
R0512:Spag5	UTSW	11	78319586	unclassified	probably benign
R0535:Spag5	UTSW	11	78304728	missense	probably benign	0.00
R0557:Spag5	UTSW	11	78314211	missense	probably damaging	0.99
R0584:Spag5	UTSW	11	78304095	missense	possibly damaging	0.49
R0666:Spag5	UTSW	11	78313396	missense	probably damaging	1.00
R0723:Spag5	UTSW	11	78319584	unclassified	probably benign
R1413:Spag5	UTSW	11	78305317	nonsense	probably null
R1680:Spag5	UTSW	11	78320616	missense	probably damaging	1.00
R1687:Spag5	UTSW	11	78304929	missense	probably benign	0.32
R1696:Spag5	UTSW	11	78321326	missense	probably damaging	1.00
R1831:Spag5	UTSW	11	78314256	missense	probably benign	0.08
R1866:Spag5	UTSW	11	78304455	missense	possibly damaging	0.62
R1918:Spag5	UTSW	11	78304176	missense	probably benign	0.01
R4004:Spag5	UTSW	11	78321529	missense	probably benign	0.22
R4005:Spag5	UTSW	11	78321529	missense	probably benign	0.22
R4222:Spag5	UTSW	11	78304511	missense	probably damaging	1.00
R4750:Spag5	UTSW	11	78320052	missense	probably benign	0.00
R4771:Spag5	UTSW	11	78304766	missense	probably damaging	1.00
R4928:Spag5	UTSW	11	78314373	missense	probably damaging	0.97
R5360:Spag5	UTSW	11	78314762	missense	probably damaging	0.99
R5366:Spag5	UTSW	11	78320326	splice site	probably null
R5618:Spag5	UTSW	11	78304080	missense	probably benign	0.00
R5668:Spag5	UTSW	11	78304716	missense	possibly damaging	0.53
R5762:Spag5	UTSW	11	78304146	missense	probably benign	0.25
R5859:Spag5	UTSW	11	78313534	missense	probably benign	0.38
R6564:Spag5	UTSW	11	78315575	missense	probably damaging	1.00
R6571:Spag5	UTSW	11	78321269	missense	probably damaging	1.00
R6573:Spag5	UTSW	11	78314182	nonsense	probably null
R7074:Spag5	UTSW	11	78305042	critical splice donor site	probably null
R7091:Spag5	UTSW	11	78313191	critical splice donor site	probably null
R7332:Spag5	UTSW	11	78313379	nonsense	probably null
R8073:Spag5	UTSW	11	78301977	missense	probably benign	0.22
R8709:Spag5	UTSW	11	78301912	missense	probably benign
R8723:Spag5	UTSW	11	78321389	missense	probably damaging	1.00
R8976:Spag5	UTSW	11	78304587	missense	probably benign	0.01
R9053:Spag5	UTSW	11	78321749	missense	probably benign	0.14
R9142:Spag5	UTSW	11	78301997	missense	possibly damaging	0.56
Z1176:Spag5	UTSW	11	78314982	missense	possibly damaging	0.62

Posted On

2015-04-16