Mutagenetix > Incidental Mutation

Incidental Mutation 'R8411:Spag6'

652651

Institutional Source

Beutler Lab

Gene Symbol

Spag6

Ensembl Gene

ENSMUSG00000037708

Gene Name

sperm associated antigen 6

Synonyms

BC061194, Spag6l

MMRRC Submission

067881-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R8411 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

18698808-18754561 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 18715394 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 80 (V80M)

Ref Sequence

ENSEMBL: ENSMUSP00000092751 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095132] [ENSMUST00000173763]

AlphaFold

Q3V0U9

Predicted Effect

probably damaging
Transcript: ENSMUST00000095132
AA Change: V80M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000092751
Gene: ENSMUSG00000037708
AA Change: V80M

Domain	Start	End	E-Value	Type
ARM	30	70	2.26e-3	SMART
ARM	114	154	1.67e-6	SMART
ARM	156	196	4.28e-4	SMART
ARM	198	238	5.43e-6	SMART
ARM	240	280	4.6e0	SMART
ARM	282	322	3.09e1	SMART
ARM	323	365	3.93e-3	SMART
Blast:ARM	367	409	7e-17	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000173763
AA Change: V58M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000133383
Gene: ENSMUSG00000037708
AA Change: V58M

Domain	Start	End	E-Value	Type
ARM	8	48	2.26e-3	SMART
Blast:ARM	50	90	2e-14	BLAST
ARM	92	132	1.67e-6	SMART
ARM	134	166	5.76e1	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	A	G	5: 113,285,588 (GRCm39)	S89P	probably benign	Het
Aatf	A	T	11: 84,361,502 (GRCm39)	M367K	probably benign	Het
Adam18	A	T	8: 25,142,143 (GRCm39)	I211N	probably damaging	Het
Angpt1	T	C	15: 42,290,430 (GRCm39)	Y478C	probably damaging	Het
Apba2	A	T	7: 64,386,674 (GRCm39)	I434F	probably damaging	Het
Arfgef1	T	A	1: 10,286,759 (GRCm39)	K50N	probably benign	Het
Arfgef2	A	T	2: 166,715,903 (GRCm39)	Q1397H	probably benign	Het
Ascc2	G	A	11: 4,597,208 (GRCm39)	R129Q	probably damaging	Het
Atxn1	A	G	13: 45,720,032 (GRCm39)	V621A	probably benign	Het
Catsperz	A	T	19: 6,899,930 (GRCm39)	L192M	probably benign	Het
Cd5	G	A	19: 10,697,585 (GRCm39)	P465S	probably damaging	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Cfap61	A	G	2: 145,789,103 (GRCm39)	E94G	probably benign	Het
Chd1	A	G	17: 15,982,711 (GRCm39)	H1392R	probably damaging	Het
Csnk1a1	A	G	18: 61,688,888 (GRCm39)	I23V	probably benign	Het
Ctnnd2	C	T	15: 30,647,179 (GRCm39)	R292C	probably benign	Het
Dcaf6	T	A	1: 165,216,244 (GRCm39)	H453L	probably benign	Het
Dnah3	C	A	7: 119,610,253 (GRCm39)	D1728Y	probably damaging	Het
Dtx3	T	C	10: 127,028,693 (GRCm39)	K179E	possibly damaging	Het
Fam3b	T	A	16: 97,283,053 (GRCm39)	Y74F	probably benign	Het
Gm5464	T	C	14: 67,106,555 (GRCm39)	L64P	unknown	Het
Gm5624	T	G	14: 44,799,347 (GRCm39)	N70T		Het
Kcnh7	T	A	2: 62,594,952 (GRCm39)	H706L	probably damaging	Het
Kdm2b	C	T	5: 123,018,239 (GRCm39)	R1067H	probably damaging	Het
Klhl28	A	T	12: 64,996,864 (GRCm39)	H492Q	probably damaging	Het
Loxl3	T	A	6: 83,027,605 (GRCm39)	C716S	probably damaging	Het
Ltbp2	A	G	12: 84,833,187 (GRCm39)	Y1474H	probably damaging	Het
Mcm3	C	T	1: 20,886,980 (GRCm39)	V142I	probably benign	Het
Mmp24	G	T	2: 155,655,935 (GRCm39)	V458L	probably benign	Het
Mpl	C	A	4: 118,303,306 (GRCm39)	S502I		Het
Nfatc1	A	T	18: 80,710,257 (GRCm39)	V503D	probably damaging	Het
Nim1k	A	G	13: 120,175,807 (GRCm39)	I133T	possibly damaging	Het
Nr1d2	T	C	14: 18,215,031 (GRCm38)	Y327C	probably damaging	Het
Oma1	C	T	4: 103,186,113 (GRCm39)	R360*	probably null	Het
Oog2	T	A	4: 143,920,743 (GRCm39)	W59R	probably damaging	Het
Or4c109	T	C	2: 88,818,409 (GRCm39)	T46A	probably benign	Het
Pcdh10	A	G	3: 45,333,974 (GRCm39)	E96G	probably damaging	Het
Pcna	T	A	2: 132,093,850 (GRCm39)	T98S	probably benign	Het
Pcnx3	C	T	19: 5,729,618 (GRCm39)	C899Y	possibly damaging	Het
Phf11d	T	C	14: 59,593,883 (GRCm39)	N97S	probably benign	Het
Plekhg4	G	A	8: 106,103,961 (GRCm39)	W431*	probably null	Het
Plk4	A	G	3: 40,767,901 (GRCm39)	T815A	probably benign	Het
Pnma2	C	T	14: 67,153,762 (GRCm39)	T62I	possibly damaging	Het
Ppp1r9a	C	T	6: 5,057,568 (GRCm39)	R548W	probably damaging	Het
Ptx3	A	G	3: 66,132,201 (GRCm39)	S241G	probably benign	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Rplp0	A	T	5: 115,698,823 (GRCm39)	K26N	probably damaging	Het
Sec62	A	C	3: 30,872,931 (GRCm39)	E338A	unknown	Het
Sema6a	T	C	18: 47,382,022 (GRCm39)	M842V	probably benign	Het
Serpina3j	T	C	12: 104,281,043 (GRCm39)	V72A	probably benign	Het
Siglecf	T	C	7: 43,001,368 (GRCm39)	F112S	probably damaging	Het
Slc29a4	A	G	5: 142,705,880 (GRCm39)	N455D	probably damaging	Het
Slc6a11	T	A	6: 114,108,398 (GRCm39)	F54Y	probably benign	Het
Spic	T	C	10: 88,514,498 (GRCm39)	E34G	possibly damaging	Het
Tecpr2	A	G	12: 110,898,154 (GRCm39)	K469E	possibly damaging	Het
Them7	T	A	2: 105,128,190 (GRCm39)	L57Q	probably benign	Het
Tlr3	G	A	8: 45,849,978 (GRCm39)	A897V	probably damaging	Het
Tnp2	A	G	16: 10,606,372 (GRCm39)	C32R	possibly damaging	Het
Trpm6	A	T	19: 18,831,332 (GRCm39)	Q1399L	probably benign	Het
Ttn	C	A	2: 76,677,015 (GRCm39)	E11074*	probably null	Het
Ubash3b	G	A	9: 40,954,781 (GRCm39)	A243V	probably benign	Het
Vash1	G	A	12: 86,726,952 (GRCm39)	R64Q	possibly damaging	Het
Vmn1r167	T	A	7: 23,204,981 (GRCm39)	M12L	possibly damaging	Het
Vmn2r111	T	A	17: 22,767,562 (GRCm39)	H645L	probably benign	Het
Vmn2r75	A	T	7: 85,797,722 (GRCm39)	I697K	probably damaging	Het
Vmn2r87	A	G	10: 130,308,126 (GRCm39)	I704T	probably damaging	Het

Other mutations in Spag6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00505:Spag6	APN	2	18,738,995 (GRCm39)	missense	probably benign	0.31
IGL01352:Spag6	APN	2	18,715,284 (GRCm39)	missense	possibly damaging	0.77
IGL02795:Spag6	APN	2	18,737,894 (GRCm39)	missense	probably benign
IGL03406:Spag6	APN	2	18,747,684 (GRCm39)	splice site	probably benign
R0362:Spag6	UTSW	2	18,715,302 (GRCm39)	missense	probably damaging	0.99
R0423:Spag6	UTSW	2	18,715,404 (GRCm39)	missense	probably benign	0.00
R1309:Spag6	UTSW	2	18,739,027 (GRCm39)	missense	probably damaging	1.00
R1386:Spag6	UTSW	2	18,739,057 (GRCm39)	missense	possibly damaging	0.49
R1568:Spag6	UTSW	2	18,737,925 (GRCm39)	missense	probably benign
R1716:Spag6	UTSW	2	18,750,420 (GRCm39)	splice site	probably null
R1771:Spag6	UTSW	2	18,738,928 (GRCm39)	missense	probably benign	0.22
R1911:Spag6	UTSW	2	18,720,616 (GRCm39)	nonsense	probably null
R1985:Spag6	UTSW	2	18,736,930 (GRCm39)	missense	probably benign	0.00
R2029:Spag6	UTSW	2	18,738,916 (GRCm39)	unclassified	probably benign
R2131:Spag6	UTSW	2	18,737,908 (GRCm39)	nonsense	probably null
R3705:Spag6	UTSW	2	18,715,368 (GRCm39)	missense	probably damaging	0.99
R4230:Spag6	UTSW	2	18,720,449 (GRCm39)	splice site	probably null
R4585:Spag6	UTSW	2	18,736,958 (GRCm39)	critical splice donor site	probably null
R4586:Spag6	UTSW	2	18,736,958 (GRCm39)	critical splice donor site	probably null
R4692:Spag6	UTSW	2	18,704,054 (GRCm39)	missense	probably benign	0.24
R4745:Spag6	UTSW	2	18,742,107 (GRCm39)	missense	possibly damaging	0.78
R4890:Spag6	UTSW	2	18,747,588 (GRCm39)	missense	probably benign	0.00
R4914:Spag6	UTSW	2	18,750,360 (GRCm39)	missense	probably benign	0.00
R4918:Spag6	UTSW	2	18,750,360 (GRCm39)	missense	probably benign	0.00
R5086:Spag6	UTSW	2	18,747,688 (GRCm39)	splice site	probably benign
R5264:Spag6	UTSW	2	18,750,324 (GRCm39)	missense	probably benign	0.00
R5729:Spag6	UTSW	2	18,720,525 (GRCm39)	missense	probably benign
R5754:Spag6	UTSW	2	18,703,613 (GRCm39)	unclassified	probably benign
R5781:Spag6	UTSW	2	18,736,804 (GRCm39)	missense	probably benign
R5954:Spag6	UTSW	2	18,715,417 (GRCm39)	missense	probably damaging	1.00
R6246:Spag6	UTSW	2	18,703,906 (GRCm39)	critical splice donor site	probably null
R7607:Spag6	UTSW	2	18,736,773 (GRCm39)	missense	possibly damaging	0.87
R8261:Spag6	UTSW	2	18,750,301 (GRCm39)	missense	probably benign	0.01
R8865:Spag6	UTSW	2	18,738,928 (GRCm39)	missense	probably benign	0.22
R9275:Spag6	UTSW	2	18,703,985 (GRCm39)	missense	probably benign	0.28
R9278:Spag6	UTSW	2	18,703,985 (GRCm39)	missense	probably benign	0.28
R9413:Spag6	UTSW	2	18,739,029 (GRCm39)	missense	probably benign
R9451:Spag6	UTSW	2	18,715,369 (GRCm39)	nonsense	probably null
R9660:Spag6	UTSW	2	18,704,047 (GRCm39)	missense	probably benign	0.37

Predicted Primers

PCR Primer
(F):5'- TGTGCAGAATCACATGTTTTGC -3'
(R):5'- AGGTAGATCTAGAGCTTTGAAGTG -3'

Sequencing Primer
(F):5'- ACGTGGTCCCAACCATT -3'
(R):5'- GCATGGTCCACTTAAATTAGCAG -3'

Posted On

2020-10-20