Mutagenetix > Incidental Mutation

Incidental Mutation 'R7332:Spag5'

569310

Institutional Source

Beutler Lab

Gene Symbol

Spag5

Ensembl Gene

ENSMUSG00000002055

Gene Name

sperm associated antigen 5

Synonyms

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

MMRRC Submission

045425-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7332 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78192412-78213283 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 78204205 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 486 (L486*)

Ref Sequence

ENSEMBL: ENSMUSP00000045286 (fasta)

Gene Model

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

AlphaFold

Q7TME2

Predicted Effect

probably null
Transcript: ENSMUST00000045026
AA Change: L486*

SMART Domains

Protein: ENSMUSP00000045286
Gene: ENSMUSG00000002055
AA Change: L486*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (68/68)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1l2	A	G	19: 56,906,553 (GRCm39)	S449P	probably damaging	Het
Atp6v0c	A	C	17: 24,388,198 (GRCm39)	S21A	probably benign	Het
Cacna1e	T	C	1: 154,601,547 (GRCm39)	Y40C	possibly damaging	Het
Cdadc1	A	G	14: 59,813,213 (GRCm39)	I398T	possibly damaging	Het
Cfap44	T	A	16: 44,250,191 (GRCm39)	D756E	probably damaging	Het
Clcnkb	A	T	4: 141,141,243 (GRCm39)	L104Q	probably null	Het
Clk1	G	A	1: 58,451,853 (GRCm39)	H421Y	probably benign	Het
Cmpk2	A	T	12: 26,528,061 (GRCm39)	D426V	probably damaging	Het
Cmya5	A	G	13: 93,229,061 (GRCm39)	L2009S	possibly damaging	Het
Col5a2	C	G	1: 45,419,325 (GRCm39)	D1252H	probably damaging	Het
Coro1b	A	G	19: 4,199,356 (GRCm39)	K5R	probably benign	Het
Csmd2	A	G	4: 128,313,360 (GRCm39)	T1346A		Het
Csrp1	G	T	1: 135,667,149 (GRCm39)	W4L	probably benign	Het
Cyp3a25	A	G	5: 145,929,817 (GRCm39)	I184T	probably damaging	Het
Egfl7	C	A	2: 26,480,725 (GRCm39)	R128S	probably benign	Het
Fggy	A	T	4: 95,511,719 (GRCm39)	N157I	probably damaging	Het
Gldc	A	T	19: 30,093,926 (GRCm39)	L697Q	probably damaging	Het
Gm4952	T	A	19: 12,604,373 (GRCm39)	Y262N	probably damaging	Het
Gsap	T	A	5: 21,495,119 (GRCm39)	M821K	probably benign	Het
Hps1	T	C	19: 42,766,351 (GRCm39)		probably null	Het
Hsbp1l1	T	C	18: 80,280,038 (GRCm39)		probably benign	Het
Igfbp7	G	A	5: 77,499,803 (GRCm39)	T220I	probably damaging	Het
Ints3	T	C	3: 90,322,819 (GRCm39)	Q137R	probably damaging	Het
Kcna6	A	G	6: 126,716,292 (GRCm39)	F199S	possibly damaging	Het
Kirrel1	T	C	3: 86,995,705 (GRCm39)	I410V	probably benign	Het
Llgl2	T	C	11: 115,739,125 (GRCm39)	V332A	probably damaging	Het
Lrrc27	A	G	7: 138,822,661 (GRCm39)	I517M	probably damaging	Het
Mas1	T	C	17: 13,061,106 (GRCm39)	T106A	probably benign	Het
Mast4	T	A	13: 102,887,932 (GRCm39)	Y1159F	possibly damaging	Het
Mmp2	A	G	8: 93,576,780 (GRCm39)	D601G	probably damaging	Het
Mycbp2	T	A	14: 103,434,793 (GRCm39)	I2217F	probably damaging	Het
Mycbp2	A	G	14: 103,393,889 (GRCm39)	S2891P	probably damaging	Het
Naip6	A	G	13: 100,437,209 (GRCm39)	V438A	possibly damaging	Het
Or4g17	A	G	2: 111,209,738 (GRCm39)	H131R	not run	Het
Pdf	T	C	8: 107,775,173 (GRCm39)	R20G	probably benign	Het
Pfdn2	T	C	1: 171,184,162 (GRCm39)	L47P	probably damaging	Het
Pik3c2g	C	A	6: 139,841,981 (GRCm39)	N795K		Het
Ppip5k1	A	T	2: 121,142,450 (GRCm39)	V1333D	probably damaging	Het
Pramel51	T	C	12: 88,143,187 (GRCm39)	T339A	possibly damaging	Het
Prss44	A	T	9: 110,644,530 (GRCm39)	I213F	probably damaging	Het
Rbm47	A	G	5: 66,183,557 (GRCm39)	Y349H	probably damaging	Het
Rcl1	A	T	19: 29,108,096 (GRCm39)	T253S	probably benign	Het
Rdh1	A	G	10: 127,595,754 (GRCm39)		probably benign	Het
Scn7a	C	T	2: 66,522,898 (GRCm39)	W935*	probably null	Het
Sec24b	T	C	3: 129,835,042 (GRCm39)	N52S	probably benign	Het
Serpinb5	A	T	1: 106,800,091 (GRCm39)	I94L	probably benign	Het
Setx	T	C	2: 29,036,638 (GRCm39)	V1041A	probably benign	Het
Slco3a1	G	A	7: 73,968,232 (GRCm39)	A496V	possibly damaging	Het
Spink5	T	C	18: 44,115,317 (GRCm39)	I183T	probably damaging	Het
Srd5a1	T	C	13: 69,759,173 (GRCm39)	Y65C	probably benign	Het
Ssh2	T	A	11: 77,344,349 (GRCm39)	I778N	possibly damaging	Het
Sstr1	C	T	12: 58,260,172 (GRCm39)	S265L	probably damaging	Het
Syne2	T	A	12: 76,014,529 (GRCm39)		probably null	Het
Tctn1	A	T	5: 122,399,547 (GRCm39)	D92E	probably damaging	Het
Tiam2	A	G	17: 3,503,644 (GRCm39)	I940M	probably damaging	Het
Tmeff2	T	C	1: 51,018,599 (GRCm39)	W194R	unknown	Het
Tomm20	T	C	8: 127,663,903 (GRCm39)	T94A	probably benign	Het
Ucn2	A	G	9: 108,815,532 (GRCm39)	N98S	probably benign	Het
V1rd19	A	T	7: 23,702,743 (GRCm39)	I70L	probably benign	Het
Vmn1r18	A	G	6: 57,367,503 (GRCm39)	L17P	probably benign	Het
Vmn2r61	A	G	7: 41,909,534 (GRCm39)	T20A	probably benign	Het
Wdr59	G	A	8: 112,220,986 (GRCm39)	T182I		Het
Zfp40	A	T	17: 23,395,155 (GRCm39)	C477*	probably null	Het
Zfp68	A	G	5: 138,604,830 (GRCm39)	S498P	possibly damaging	Het
Zfp729b	T	C	13: 67,757,755 (GRCm39)		probably null	Het
Zfp846	T	G	9: 20,505,521 (GRCm39)	N460K	probably benign	Het
Zim1	T	C	7: 6,680,352 (GRCm39)	Y437C	probably damaging	Het

Other mutations in Spag5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01380:Spag5	APN	11	78,195,443 (GRCm39)	missense	possibly damaging	0.62
IGL01820:Spag5	APN	11	78,195,085 (GRCm39)	missense	probably benign	0.06
IGL02066:Spag5	APN	11	78,195,358 (GRCm39)	missense	probably benign
IGL02140:Spag5	APN	11	78,206,459 (GRCm39)	missense	possibly damaging	0.62
IGL02251:Spag5	APN	11	78,210,860 (GRCm39)	missense	probably damaging	1.00
IGL02452:Spag5	APN	11	78,195,449 (GRCm39)	missense	probably benign	0.08
IGL02658:Spag5	APN	11	78,212,157 (GRCm39)	nonsense	probably null
boyardee	UTSW	11	78,204,017 (GRCm39)	critical splice donor site	probably null
Franco	UTSW	11	78,205,008 (GRCm39)	nonsense	probably null
spaghetto	UTSW	11	78,204,205 (GRCm39)	nonsense	probably null
IGL02991:Spag5	UTSW	11	78,205,077 (GRCm39)	missense	probably damaging	0.99
R0477:Spag5	UTSW	11	78,205,024 (GRCm39)	missense	probably damaging	1.00
R0512:Spag5	UTSW	11	78,210,412 (GRCm39)	unclassified	probably benign
R0535:Spag5	UTSW	11	78,195,554 (GRCm39)	missense	probably benign	0.00
R0557:Spag5	UTSW	11	78,205,037 (GRCm39)	missense	probably damaging	0.99
R0584:Spag5	UTSW	11	78,194,921 (GRCm39)	missense	possibly damaging	0.49
R0666:Spag5	UTSW	11	78,204,222 (GRCm39)	missense	probably damaging	1.00
R0723:Spag5	UTSW	11	78,210,410 (GRCm39)	unclassified	probably benign
R1413:Spag5	UTSW	11	78,196,143 (GRCm39)	nonsense	probably null
R1680:Spag5	UTSW	11	78,211,442 (GRCm39)	missense	probably damaging	1.00
R1687:Spag5	UTSW	11	78,195,755 (GRCm39)	missense	probably benign	0.32
R1696:Spag5	UTSW	11	78,212,152 (GRCm39)	missense	probably damaging	1.00
R1831:Spag5	UTSW	11	78,205,082 (GRCm39)	missense	probably benign	0.08
R1866:Spag5	UTSW	11	78,195,281 (GRCm39)	missense	possibly damaging	0.62
R1918:Spag5	UTSW	11	78,195,002 (GRCm39)	missense	probably benign	0.01
R4004:Spag5	UTSW	11	78,212,355 (GRCm39)	missense	probably benign	0.22
R4005:Spag5	UTSW	11	78,212,355 (GRCm39)	missense	probably benign	0.22
R4222:Spag5	UTSW	11	78,195,337 (GRCm39)	missense	probably damaging	1.00
R4750:Spag5	UTSW	11	78,210,878 (GRCm39)	missense	probably benign	0.00
R4771:Spag5	UTSW	11	78,195,592 (GRCm39)	missense	probably damaging	1.00
R4928:Spag5	UTSW	11	78,205,199 (GRCm39)	missense	probably damaging	0.97
R5360:Spag5	UTSW	11	78,205,588 (GRCm39)	missense	probably damaging	0.99
R5366:Spag5	UTSW	11	78,211,152 (GRCm39)	splice site	probably null
R5618:Spag5	UTSW	11	78,194,906 (GRCm39)	missense	probably benign	0.00
R5668:Spag5	UTSW	11	78,195,542 (GRCm39)	missense	possibly damaging	0.53
R5762:Spag5	UTSW	11	78,194,972 (GRCm39)	missense	probably benign	0.25
R5859:Spag5	UTSW	11	78,204,360 (GRCm39)	missense	probably benign	0.38
R6564:Spag5	UTSW	11	78,206,401 (GRCm39)	missense	probably damaging	1.00
R6571:Spag5	UTSW	11	78,212,095 (GRCm39)	missense	probably damaging	1.00
R6573:Spag5	UTSW	11	78,205,008 (GRCm39)	nonsense	probably null
R7074:Spag5	UTSW	11	78,195,868 (GRCm39)	critical splice donor site	probably null
R7091:Spag5	UTSW	11	78,204,017 (GRCm39)	critical splice donor site	probably null
R8073:Spag5	UTSW	11	78,192,803 (GRCm39)	missense	probably benign	0.22
R8709:Spag5	UTSW	11	78,192,738 (GRCm39)	missense	probably benign
R8723:Spag5	UTSW	11	78,212,215 (GRCm39)	missense	probably damaging	1.00
R8976:Spag5	UTSW	11	78,195,413 (GRCm39)	missense	probably benign	0.01
R9053:Spag5	UTSW	11	78,212,575 (GRCm39)	missense	probably benign	0.14
R9142:Spag5	UTSW	11	78,192,823 (GRCm39)	missense	possibly damaging	0.56
Z1176:Spag5	UTSW	11	78,205,808 (GRCm39)	missense	possibly damaging	0.62

Predicted Primers

PCR Primer
(F):5'- AGACAGGCTCTACTGCAAGC -3'
(R):5'- TTCTTCAGCACACGAGAACAGG -3'

Sequencing Primer
(F):5'- CTACTGCAAGCCAGGAATGTCATG -3'
(R):5'- GAGGAAACCAGGGTTTTTGACC -3'

Posted On

2019-09-13