Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02251:Spag5'

286385

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02251

Quality Score

Status

Chromosome

Chromosomal Location

78301529-78322457 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 78320034 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Cysteine at position 921 (F921C)

Ref Sequence

ENSEMBL: ENSMUSP00000045286 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017534] [ENSMUST00000045026] [ENSMUST00000102478]

Predicted Effect

probably benign
Transcript: ENSMUST00000017534

SMART Domains

Protein: ENSMUSP00000017534
Gene: ENSMUSG00000017390

Domain	Start	End	E-Value	Type
Pfam:Glycolytic	15	363	2.6e-185	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000045026
AA Change: F921C

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

SMART Domains

Protein: ENSMUSP00000045286
Gene: ENSMUSG00000002055
AA Change: F921C

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

probably benign
Transcript: ENSMUST00000102478

SMART Domains

Protein: ENSMUSP00000099536
Gene: ENSMUSG00000017390

Domain	Start	End	E-Value	Type
Pfam:Glycolytic	15	363	5.5e-179	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125477

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128032

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128359

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133579

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148689

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149711

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150016

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	A	G	7: 45,977,416	C1406R	probably damaging	Het
Acp2	T	A	2: 91,208,333		probably null	Het
Antxr2	A	C	5: 97,977,595		probably null	Het
Arhgef11	C	T	3: 87,683,547	R32C	probably damaging	Het
Armc6	A	T	8: 70,225,220	L153*	probably null	Het
Btnl2	G	T	17: 34,363,239	G260*	probably null	Het
Ccnf	A	G	17: 24,226,539	S551P	probably benign	Het
Cdh19	A	G	1: 110,954,652	S37P	probably benign	Het
Cntnap3	T	A	13: 64,762,036	T752S	probably damaging	Het
Crispld1	A	G	1: 17,728,840	M62V	probably benign	Het
Ddr1	G	A	17: 35,683,480	A801V	probably damaging	Het
Dner	G	T	1: 84,384,026	Q621K	probably damaging	Het
Dph6	A	G	2: 114,535,523		probably null	Het
Dpp3	T	G	19: 4,918,315	H243P	probably benign	Het
Eif3j2	T	A	18: 43,477,366	K127N	probably damaging	Het
Esrp1	G	A	4: 11,361,202	R315C	probably damaging	Het
Fam35a	T	C	14: 34,268,278	R224G	probably benign	Het
Gm973	A	C	1: 59,582,423	H574P	probably benign	Het
Gprasp1	G	A	X: 135,800,539	V494I	probably benign	Het
Hbb-bh1	T	A	7: 103,842,810	K66*	probably null	Het
Hoxb9	T	A	11: 96,274,825	M240K	probably damaging	Het
Irf2	T	C	8: 46,807,753		probably null	Het
Lgi4	A	G	7: 31,067,263		probably null	Het
Mylk3	C	T	8: 85,355,176	V328M	probably benign	Het
Nf2	T	C	11: 4,848,873	E38G	probably null	Het
Olfr1286	A	C	2: 111,420,312	L213R	probably damaging	Het
Olfr606	A	T	7: 103,451,771	K145*	probably null	Het
Pdpk1	A	G	17: 24,079,638	F346L	probably damaging	Het
Prex1	T	C	2: 166,577,886	Y1120C	probably damaging	Het
Rab3gap1	A	G	1: 127,937,500	T742A	probably benign	Het
Scai	A	T	2: 39,099,417	D401E	probably benign	Het
Scd1	T	C	19: 44,398,094	H298R	probably damaging	Het
Slc45a1	A	G	4: 150,638,719		probably benign	Het
Smim10l1	G	T	6: 133,105,508	R6L	probably damaging	Het
Sun1	T	C	5: 139,241,431	S667P	probably damaging	Het
Tas2r124	A	G	6: 132,755,561	I278V	probably benign	Het
Thbs1	G	A	2: 118,113,518	D206N	probably benign	Het
Trim37	T	A	11: 87,167,430		probably benign	Het
Vcp	T	C	4: 42,988,728	T249A	possibly damaging	Het
Vmn2r103	A	G	17: 19,793,969	N341S	possibly damaging	Het
Zmat3	A	G	3: 32,345,583		probably benign	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
IGL02452:Spag5	APN	11	78304623	missense	probably benign	0.08
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
Z1176:Spag5	UTSW	11	78314982	missense	possibly damaging	0.62

Posted On

2015-04-16