Mutagenetix > Incidental Mutation

Incidental Mutation 'R4928:Spag5'

381026

Institutional Source

Beutler Lab

Gene Symbol

Spag5

Ensembl Gene

ENSMUSG00000002055

Gene Name

sperm associated antigen 5

Synonyms

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

MMRRC Submission

042529-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4928 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78301529-78322457 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 78314373 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 633 (S633T)

Ref Sequence

ENSEMBL: ENSMUSP00000045286 (fasta)

Gene Model

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

AlphaFold

Q7TME2

Predicted Effect

probably damaging
Transcript: ENSMUST00000045026
AA Change: S633T

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000045286
Gene: ENSMUSG00000002055
AA Change: S633T

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: ENSMUST00000128359

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133579

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141026

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146068

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149711

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150016

Meta Mutation Damage Score

0.0896

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.5%

Validation Efficiency

98% (123/126)

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: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530021J07Rik	G	T	7: 83,155,878 (GRCm38)		noncoding transcript	Het
Aasdh	T	A	5: 76,896,688 (GRCm38)	K118N	possibly damaging	Het
Abca14	A	T	7: 120,324,580 (GRCm38)	N1620I	possibly damaging	Het
Acap1	A	T	11: 69,885,815 (GRCm38)	S149T	possibly damaging	Het
Adgre1	T	A	17: 57,444,064 (GRCm38)	Y579*	probably null	Het
AI314180	A	G	4: 58,827,073 (GRCm38)	V1020A	probably damaging	Het
Aifm3	T	C	16: 17,500,432 (GRCm38)		probably benign	Het
Aldh16a1	A	G	7: 45,141,961 (GRCm38)	W107R	probably damaging	Het
Amer2	A	T	14: 60,379,445 (GRCm38)	H363L	possibly damaging	Het
Arhgap10	A	G	8: 77,426,328 (GRCm38)		probably null	Het
Arhgef6	A	T	X: 57,234,878 (GRCm38)	D742E	probably damaging	Het
Astn2	A	T	4: 65,729,407 (GRCm38)	N731K	probably damaging	Het
Atp1a2	T	C	1: 172,278,387 (GRCm38)	T904A	possibly damaging	Het
Atr	C	T	9: 95,907,299 (GRCm38)	R1503W	probably damaging	Het
Cdh3	G	T	8: 106,536,610 (GRCm38)	R97L	probably benign	Het
Chst2	C	T	9: 95,406,006 (GRCm38)	V96I	probably benign	Het
Cit	T	A	5: 115,985,797 (GRCm38)	N1464K	probably benign	Het
Col17a1	A	T	19: 47,670,458 (GRCm38)		probably null	Het
Col4a3	G	A	1: 82,710,977 (GRCm38)		probably benign	Het
Copz1	T	A	15: 103,291,330 (GRCm38)	S57R	probably damaging	Het
Cpped1	A	T	16: 11,828,279 (GRCm38)	F227Y	probably damaging	Het
Cyp2j12	A	T	4: 96,102,151 (GRCm38)		probably null	Het
Dctn1	T	A	6: 83,189,207 (GRCm38)	I195N	possibly damaging	Het
Dhrs7b	A	G	11: 60,851,925 (GRCm38)	I148V	probably benign	Het
Dnah17	T	C	11: 118,027,433 (GRCm38)	D4096G	probably damaging	Het
Dnajc13	T	C	9: 104,233,638 (GRCm38)	N145D	possibly damaging	Het
Ercc6l2	T	C	13: 63,894,813 (GRCm38)		probably benign	Het
Fads6	T	G	11: 115,296,561 (GRCm38)	I103L	probably benign	Het
Fam189a1	G	T	7: 64,759,368 (GRCm38)	S426*	probably null	Het
Fat4	T	G	3: 39,010,465 (GRCm38)	Y4857D	probably damaging	Het
Fbxl14	T	A	6: 119,480,710 (GRCm38)	L284Q	probably damaging	Het
Fkbp9	T	C	6: 56,849,670 (GRCm38)	V85A	possibly damaging	Het
Galnt13	T	A	2: 54,516,565 (GRCm38)	V9E	probably damaging	Het
Gm14412	A	T	2: 177,314,580 (GRCm38)	S507R	probably benign	Het
Gm15142	T	A	X: 154,638,419 (GRCm38)		noncoding transcript	Het
Gm4787	T	C	12: 81,378,838 (GRCm38)	E182G	probably benign	Het
Gm6811	C	A	17: 21,094,631 (GRCm38)		noncoding transcript	Het
Gm9791	A	T	3: 34,005,069 (GRCm38)		noncoding transcript	Het
Hoxb7	A	T	11: 96,289,510 (GRCm38)		probably null	Het
Ift122	T	A	6: 115,915,858 (GRCm38)		probably benign	Het
Krt28	C	T	11: 99,374,632 (GRCm38)	V70I	probably benign	Het
Lig1	T	C	7: 13,298,738 (GRCm38)	S459P	probably damaging	Het
Lrfn3	C	T	7: 30,360,623 (GRCm38)	R59H	possibly damaging	Het
Mavs	T	C	2: 131,246,743 (GRCm38)	V489A	probably benign	Het
Mcm8	C	T	2: 132,839,479 (GRCm38)	P625L	probably benign	Het
Megf10	G	T	18: 57,240,673 (GRCm38)	R181L	probably benign	Het
Mgrn1	G	A	16: 4,927,862 (GRCm38)	G440D	probably benign	Het
Mllt3	T	C	4: 87,782,405 (GRCm38)		probably null	Het
Muc5ac	T	A	7: 141,817,902 (GRCm38)	Y2613*	probably null	Het
Myh14	C	T	7: 44,635,502 (GRCm38)	G662S	probably benign	Het
Myod1	T	A	7: 46,377,050 (GRCm38)	N126K	probably damaging	Het
Nae1	A	T	8: 104,516,142 (GRCm38)	H439Q	possibly damaging	Het
Narf	T	A	11: 121,244,939 (GRCm38)	V136E	possibly damaging	Het
Ncapd3	T	A	9: 27,071,735 (GRCm38)	C926*	probably null	Het
Ndufv2	C	A	17: 66,092,658 (GRCm38)		probably null	Het
Neb	T	C	2: 52,212,975 (GRCm38)	S449G	possibly damaging	Het
Nek10	C	T	14: 14,930,577 (GRCm38)	P698L	probably damaging	Het
Nox3	T	A	17: 3,635,275 (GRCm38)	E566V	probably null	Het
Oas1a	C	T	5: 120,905,724 (GRCm38)	R115H	probably benign	Het
Olfr1076	T	A	2: 86,509,125 (GRCm38)	L222H	probably damaging	Het
Olfr1130	C	A	2: 87,608,143 (GRCm38)	L252I	probably benign	Het
Olfr1152	A	G	2: 87,868,230 (GRCm38)	M80V	probably benign	Het
Olfr65	A	G	7: 103,906,672 (GRCm38)	T78A	probably damaging	Het
Pbld2	A	G	10: 63,047,999 (GRCm38)	H142R	probably damaging	Het
Pcdha4	C	T	18: 36,954,816 (GRCm38)	T684M	probably benign	Het
Phc3	G	T	3: 30,950,919 (GRCm38)	T175N	probably damaging	Het
Pigs	G	T	11: 78,329,002 (GRCm38)	V68L	probably damaging	Het
Pik3c2g	T	A	6: 139,967,802 (GRCm38)	D857E	possibly damaging	Het
Pitpnm3	G	A	11: 72,063,172 (GRCm38)	P550S	probably damaging	Het
Pla2g15	G	A	8: 106,163,218 (GRCm38)	W374*	probably null	Het
Ptpn14	G	A	1: 189,822,642 (GRCm38)	C133Y	probably damaging	Het
Ptpn20	A	G	14: 33,614,489 (GRCm38)	N95S	probably benign	Het
Ptrh2	G	T	11: 86,690,036 (GRCm38)	V160F	probably damaging	Het
Rapgef3	T	C	15: 97,757,375 (GRCm38)	D486G	probably damaging	Het
Rev3l	T	G	10: 39,823,985 (GRCm38)	S1493A	probably benign	Het
Rgs9	T	A	11: 109,225,744 (GRCm38)	D411V	probably benign	Het
Rgsl1	A	T	1: 153,793,768 (GRCm38)	Y291N	probably damaging	Het
Rprd2	A	G	3: 95,764,537 (GRCm38)	Y1185H	probably damaging	Het
Rpusd3	A	G	6: 113,416,206 (GRCm38)		probably benign	Het
Scnn1a	T	C	6: 125,322,173 (GRCm38)	I72T	probably damaging	Het
Sdk1	A	T	5: 141,857,003 (GRCm38)		probably benign	Het
Sfmbt2	T	C	2: 10,445,745 (GRCm38)	L277P	probably benign	Het
Sgf29	A	G	7: 126,664,982 (GRCm38)	E73G	probably damaging	Het
Slc12a6	T	A	2: 112,352,961 (GRCm38)	F764L	probably damaging	Het
Slc4a2	T	C	5: 24,435,342 (GRCm38)		probably null	Het
Slc9a3	T	G	13: 74,157,719 (GRCm38)	V285G	probably damaging	Het
Slc9c1	A	G	16: 45,575,409 (GRCm38)	T608A	probably benign	Het
Slfnl1	C	T	4: 120,535,685 (GRCm38)	R325C	probably damaging	Het
Smarcad1	T	A	6: 65,074,914 (GRCm38)	F344I	probably benign	Het
Snrnp70	A	T	7: 45,377,281 (GRCm38)		probably null	Het
Sod2	C	T	17: 13,008,186 (GRCm38)	T9M	probably benign	Het
Spta1	A	T	1: 174,191,056 (GRCm38)	I531L	probably benign	Het
Stra8	A	G	6: 34,933,156 (GRCm38)	E60G	probably benign	Het
Sult2a3	T	A	7: 14,111,557 (GRCm38)	I126F	probably benign	Het
Syt1	T	C	10: 108,504,512 (GRCm38)	H315R	possibly damaging	Het
Tanc2	T	C	11: 105,867,762 (GRCm38)	L783P	probably damaging	Het
Thbs2	C	T	17: 14,678,900 (GRCm38)	C646Y	probably damaging	Het
Ticam2	T	A	18: 46,560,922 (GRCm38)	K33*	probably null	Het
Trim17	T	C	11: 58,954,301 (GRCm38)		probably benign	Het
Tsr1	G	A	11: 74,907,879 (GRCm38)	M691I	probably benign	Het
Ttn	T	A	2: 76,762,419 (GRCm38)	I20790F	probably damaging	Het
Tubb2b	A	T	13: 34,128,185 (GRCm38)	Y208*	probably null	Het
Ubr1	T	A	2: 120,914,938 (GRCm38)	I890F	probably damaging	Het
Usp54	T	C	14: 20,562,192 (GRCm38)	E852G	probably damaging	Het
Vmn2r78	T	C	7: 86,954,627 (GRCm38)	V671A	probably damaging	Het
Wipi1	T	C	11: 109,579,649 (GRCm38)	K315E	probably benign	Het
Xrn2	T	C	2: 147,051,718 (GRCm38)	V735A	possibly damaging	Het
Zdbf2	T	A	1: 63,308,814 (GRCm38)	D2117E	possibly damaging	Het
Zfp287	A	T	11: 62,714,136 (GRCm38)	C648*	probably null	Het
Zfp369	A	G	13: 65,296,800 (GRCm38)	T586A	possibly damaging	Het

Other mutations in Spag5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01380:Spag5	APN	11	78,304,617 (GRCm38)	missense	possibly damaging	0.62
IGL01820:Spag5	APN	11	78,304,259 (GRCm38)	missense	probably benign	0.06
IGL02066:Spag5	APN	11	78,304,532 (GRCm38)	missense	probably benign
IGL02140:Spag5	APN	11	78,315,633 (GRCm38)	missense	possibly damaging	0.62
IGL02251:Spag5	APN	11	78,320,034 (GRCm38)	missense	probably damaging	1.00
IGL02452:Spag5	APN	11	78,304,623 (GRCm38)	missense	probably benign	0.08
IGL02658:Spag5	APN	11	78,321,331 (GRCm38)	nonsense	probably null
boyardee	UTSW	11	78,313,191 (GRCm38)	critical splice donor site	probably null
Franco	UTSW	11	78,314,182 (GRCm38)	nonsense	probably null
spaghetto	UTSW	11	78,313,379 (GRCm38)	nonsense	probably null
IGL02991:Spag5	UTSW	11	78,314,251 (GRCm38)	missense	probably damaging	0.99
R0477:Spag5	UTSW	11	78,314,198 (GRCm38)	missense	probably damaging	1.00
R0512:Spag5	UTSW	11	78,319,586 (GRCm38)	unclassified	probably benign
R0535:Spag5	UTSW	11	78,304,728 (GRCm38)	missense	probably benign	0.00
R0557:Spag5	UTSW	11	78,314,211 (GRCm38)	missense	probably damaging	0.99
R0584:Spag5	UTSW	11	78,304,095 (GRCm38)	missense	possibly damaging	0.49
R0666:Spag5	UTSW	11	78,313,396 (GRCm38)	missense	probably damaging	1.00
R0723:Spag5	UTSW	11	78,319,584 (GRCm38)	unclassified	probably benign
R1413:Spag5	UTSW	11	78,305,317 (GRCm38)	nonsense	probably null
R1680:Spag5	UTSW	11	78,320,616 (GRCm38)	missense	probably damaging	1.00
R1687:Spag5	UTSW	11	78,304,929 (GRCm38)	missense	probably benign	0.32
R1696:Spag5	UTSW	11	78,321,326 (GRCm38)	missense	probably damaging	1.00
R1831:Spag5	UTSW	11	78,314,256 (GRCm38)	missense	probably benign	0.08
R1866:Spag5	UTSW	11	78,304,455 (GRCm38)	missense	possibly damaging	0.62
R1918:Spag5	UTSW	11	78,304,176 (GRCm38)	missense	probably benign	0.01
R4004:Spag5	UTSW	11	78,321,529 (GRCm38)	missense	probably benign	0.22
R4005:Spag5	UTSW	11	78,321,529 (GRCm38)	missense	probably benign	0.22
R4222:Spag5	UTSW	11	78,304,511 (GRCm38)	missense	probably damaging	1.00
R4750:Spag5	UTSW	11	78,320,052 (GRCm38)	missense	probably benign	0.00
R4771:Spag5	UTSW	11	78,304,766 (GRCm38)	missense	probably damaging	1.00
R5360:Spag5	UTSW	11	78,314,762 (GRCm38)	missense	probably damaging	0.99
R5366:Spag5	UTSW	11	78,320,326 (GRCm38)	splice site	probably null
R5618:Spag5	UTSW	11	78,304,080 (GRCm38)	missense	probably benign	0.00
R5668:Spag5	UTSW	11	78,304,716 (GRCm38)	missense	possibly damaging	0.53
R5762:Spag5	UTSW	11	78,304,146 (GRCm38)	missense	probably benign	0.25
R5859:Spag5	UTSW	11	78,313,534 (GRCm38)	missense	probably benign	0.38
R6564:Spag5	UTSW	11	78,315,575 (GRCm38)	missense	probably damaging	1.00
R6571:Spag5	UTSW	11	78,321,269 (GRCm38)	missense	probably damaging	1.00
R6573:Spag5	UTSW	11	78,314,182 (GRCm38)	nonsense	probably null
R7074:Spag5	UTSW	11	78,305,042 (GRCm38)	critical splice donor site	probably null
R7091:Spag5	UTSW	11	78,313,191 (GRCm38)	critical splice donor site	probably null
R7332:Spag5	UTSW	11	78,313,379 (GRCm38)	nonsense	probably null
R8073:Spag5	UTSW	11	78,301,977 (GRCm38)	missense	probably benign	0.22
R8709:Spag5	UTSW	11	78,301,912 (GRCm38)	missense	probably benign
R8723:Spag5	UTSW	11	78,321,389 (GRCm38)	missense	probably damaging	1.00
R8976:Spag5	UTSW	11	78,304,587 (GRCm38)	missense	probably benign	0.01
R9053:Spag5	UTSW	11	78,321,749 (GRCm38)	missense	probably benign	0.14
R9142:Spag5	UTSW	11	78,301,997 (GRCm38)	missense	possibly damaging	0.56
Z1176:Spag5	UTSW	11	78,314,982 (GRCm38)	missense	possibly damaging	0.62

Predicted Primers

PCR Primer
(F):5'- GACAGTGAGTCTGAGTTCTGCC -3'
(R):5'- AGAGCAAACTTCCAGAGCAG -3'

Sequencing Primer
(F):5'- TCCTGTCCTTGAGTATGC -3'
(R):5'- TGCAGAAAATGAAGTTGCTCCC -3'

Posted On

2016-04-15