Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02795:Spag6'

359950

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spag6

Ensembl Gene

ENSMUSG00000037708

Gene Name

sperm associated antigen 6

Synonyms

BC061194, Spag6l

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

IGL02795

Quality Score

Status

Chromosome

Chromosomal Location

18694032-18750413 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 18733083 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 255 (V255F)

Ref Sequence

ENSEMBL: ENSMUSP00000092751 (fasta)

Gene Model

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

AlphaFold

Q3V0U9

Predicted Effect

probably benign
Transcript: ENSMUST00000095132
AA Change: V255F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000092751
Gene: ENSMUSG00000037708
AA Change: V255F

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 benign
Transcript: ENSMUST00000173763

SMART Domains

Protein: ENSMUSP00000133383
Gene: ENSMUSG00000037708

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,288,748 (GRCm38)	L1391P	probably damaging	Het
Abcc3	G	A	11: 94,361,642 (GRCm38)		probably benign	Het
Acvr1	A	G	2: 58,462,952 (GRCm38)	I332T	probably damaging	Het
Atp8a2	C	T	14: 60,033,742 (GRCm38)	V247M	probably damaging	Het
Btn1a1	T	C	13: 23,460,616 (GRCm38)		probably null	Het
Btnl9	A	T	11: 49,174,867 (GRCm38)		probably benign	Het
Dbx1	T	A	7: 49,636,577 (GRCm38)	I47F	probably benign	Het
Dnaja3	A	G	16: 4,690,073 (GRCm38)		probably benign	Het
Dnmt1	T	C	9: 20,927,111 (GRCm38)	S220G	probably benign	Het
Dock9	A	T	14: 121,639,978 (GRCm38)	M451K	probably benign	Het
Eml3	A	G	19: 8,933,778 (GRCm38)	Y257C	probably benign	Het
Fbxw19	C	A	9: 109,495,818 (GRCm38)	M10I	possibly damaging	Het
Flg2	C	T	3: 93,203,613 (GRCm38)	R983W	unknown	Het
Galnt5	C	A	2: 58,027,871 (GRCm38)	P707H	probably damaging	Het
Gba2	G	T	4: 43,578,331 (GRCm38)	P6Q	probably damaging	Het
Gm13199	A	G	2: 5,862,673 (GRCm38)		probably benign	Het
Gpr45	C	T	1: 43,032,493 (GRCm38)	R99C	possibly damaging	Het
Hecw1	G	A	13: 14,322,517 (GRCm38)	S302L	probably damaging	Het
Hrg	T	C	16: 22,957,553 (GRCm38)		probably benign	Het
Kdelc2	A	G	9: 53,392,105 (GRCm38)	D99G	probably damaging	Het
Lama1	A	G	17: 67,738,894 (GRCm38)		probably null	Het
Lgr4	T	C	2: 110,008,210 (GRCm38)		probably benign	Het
Lrrc9	C	T	12: 72,478,768 (GRCm38)	T830M	probably damaging	Het
Mdga2	T	C	12: 66,689,432 (GRCm38)	T341A	probably benign	Het
Mms19	C	T	19: 41,952,406 (GRCm38)		probably null	Het
Nectin1	A	G	9: 43,803,552 (GRCm38)	S362G	probably benign	Het
Nlrc3	G	T	16: 3,965,285 (GRCm38)	H87N	probably damaging	Het
Oit1	T	A	14: 8,355,497 (GRCm38)	M113L	probably benign	Het
Olfr1018	T	A	2: 85,823,512 (GRCm38)	C180*	probably null	Het
Olfr142	A	G	2: 90,252,562 (GRCm38)	L142P	probably damaging	Het
Olfr183	G	T	16: 59,000,277 (GRCm38)	L197F	possibly damaging	Het
Olfr23	G	A	11: 73,940,929 (GRCm38)	V228I	probably benign	Het
Olfr243	T	A	7: 103,716,883 (GRCm38)	F96L	probably benign	Het
Pcsk1	G	T	13: 75,112,620 (GRCm38)	G321C	probably damaging	Het
Prrc2c	G	T	1: 162,714,299 (GRCm38)	P374T	probably benign	Het
Rusc1	A	T	3: 89,091,950 (GRCm38)	L175Q	probably damaging	Het
Ryr2	T	C	13: 11,595,190 (GRCm38)	N4250S	probably benign	Het
Scara5	A	C	14: 65,730,680 (GRCm38)	N134T	possibly damaging	Het
Sema4d	T	C	13: 51,703,411 (GRCm38)	K595R	probably benign	Het
Serpinb6a	A	C	13: 33,931,593 (GRCm38)	L15R	probably damaging	Het
Setdb1	A	T	3: 95,327,373 (GRCm38)	N1006K	probably damaging	Het
Slc18a2	G	A	19: 59,274,490 (GRCm38)		probably benign	Het
Slc22a30	C	T	19: 8,400,895 (GRCm38)	C139Y	probably damaging	Het
Slc25a27	T	A	17: 43,647,112 (GRCm38)	Y269F	probably damaging	Het
Slc9c1	A	T	16: 45,575,419 (GRCm38)	D611V	probably benign	Het
St5	T	C	7: 109,556,364 (GRCm38)	Y393C	probably damaging	Het
Svep1	C	A	4: 58,123,223 (GRCm38)	G698W	probably damaging	Het
Syne2	T	C	12: 75,966,549 (GRCm38)	L2839P	probably damaging	Het
Tfb2m	T	C	1: 179,545,959 (GRCm38)	E58G	possibly damaging	Het
Trim24	A	T	6: 37,919,389 (GRCm38)	E260D	probably damaging	Het
Ugt2b1	T	A	5: 86,917,701 (GRCm38)	D493V	probably damaging	Het
Vmn1r27	A	G	6: 58,215,302 (GRCm38)	V189A	possibly damaging	Het
Vmn2r91	A	G	17: 18,085,277 (GRCm38)	Q74R	probably benign	Het
Vps25	A	G	11: 101,256,090 (GRCm38)	Y64C	probably damaging	Het
Xirp2	G	A	2: 67,509,136 (GRCm38)	G574S	probably damaging	Het
Ythdc2	A	G	18: 44,837,438 (GRCm38)	E273G	possibly damaging	Het

Other mutations in Spag6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00505:Spag6	APN	2	18,734,184 (GRCm38)	missense	probably benign	0.31
IGL01352:Spag6	APN	2	18,710,473 (GRCm38)	missense	possibly damaging	0.77
IGL03406:Spag6	APN	2	18,742,873 (GRCm38)	splice site	probably benign
R0362:Spag6	UTSW	2	18,710,491 (GRCm38)	missense	probably damaging	0.99
R0423:Spag6	UTSW	2	18,710,593 (GRCm38)	missense	probably benign	0.00
R1309:Spag6	UTSW	2	18,734,216 (GRCm38)	missense	probably damaging	1.00
R1386:Spag6	UTSW	2	18,734,246 (GRCm38)	missense	possibly damaging	0.49
R1568:Spag6	UTSW	2	18,733,114 (GRCm38)	missense	probably benign
R1716:Spag6	UTSW	2	18,745,609 (GRCm38)	splice site	probably null
R1771:Spag6	UTSW	2	18,734,117 (GRCm38)	missense	probably benign	0.22
R1911:Spag6	UTSW	2	18,715,805 (GRCm38)	nonsense	probably null
R1985:Spag6	UTSW	2	18,732,119 (GRCm38)	missense	probably benign	0.00
R2029:Spag6	UTSW	2	18,734,105 (GRCm38)	unclassified	probably benign
R2131:Spag6	UTSW	2	18,733,097 (GRCm38)	nonsense	probably null
R3705:Spag6	UTSW	2	18,710,557 (GRCm38)	missense	probably damaging	0.99
R4230:Spag6	UTSW	2	18,715,638 (GRCm38)	splice site	probably null
R4585:Spag6	UTSW	2	18,732,147 (GRCm38)	critical splice donor site	probably null
R4586:Spag6	UTSW	2	18,732,147 (GRCm38)	critical splice donor site	probably null
R4692:Spag6	UTSW	2	18,699,243 (GRCm38)	missense	probably benign	0.24
R4745:Spag6	UTSW	2	18,737,296 (GRCm38)	missense	possibly damaging	0.78
R4890:Spag6	UTSW	2	18,742,777 (GRCm38)	missense	probably benign	0.00
R4914:Spag6	UTSW	2	18,745,549 (GRCm38)	missense	probably benign	0.00
R4918:Spag6	UTSW	2	18,745,549 (GRCm38)	missense	probably benign	0.00
R5086:Spag6	UTSW	2	18,742,877 (GRCm38)	splice site	probably benign
R5264:Spag6	UTSW	2	18,745,513 (GRCm38)	missense	probably benign	0.00
R5729:Spag6	UTSW	2	18,715,714 (GRCm38)	missense	probably benign
R5754:Spag6	UTSW	2	18,698,802 (GRCm38)	unclassified	probably benign
R5781:Spag6	UTSW	2	18,731,993 (GRCm38)	missense	probably benign
R5954:Spag6	UTSW	2	18,710,606 (GRCm38)	missense	probably damaging	1.00
R6246:Spag6	UTSW	2	18,699,095 (GRCm38)	critical splice donor site	probably null
R7607:Spag6	UTSW	2	18,731,962 (GRCm38)	missense	possibly damaging	0.87
R8261:Spag6	UTSW	2	18,745,490 (GRCm38)	missense	probably benign	0.01
R8411:Spag6	UTSW	2	18,710,583 (GRCm38)	missense	probably damaging	1.00
R8865:Spag6	UTSW	2	18,734,117 (GRCm38)	missense	probably benign	0.22
R9275:Spag6	UTSW	2	18,699,174 (GRCm38)	missense	probably benign	0.28
R9278:Spag6	UTSW	2	18,699,174 (GRCm38)	missense	probably benign	0.28
R9413:Spag6	UTSW	2	18,734,218 (GRCm38)	missense	probably benign
R9451:Spag6	UTSW	2	18,710,558 (GRCm38)	nonsense	probably null
R9660:Spag6	UTSW	2	18,699,236 (GRCm38)	missense	probably benign	0.37

Posted On

2015-12-18