Mutagenetix > Incidental Mutations

Incidental Mutation 'R4918:Spag6'

378361

Institutional Source

Beutler Lab

Gene Symbol

Spag6

Ensembl Gene

ENSMUSG00000037708

Gene Name

sperm associated antigen 6

Synonyms

BC061194, Spag6l

MMRRC Submission

042520-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R4918 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18694032-18750413 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 18745549 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 469 (I469F)

Ref Sequence

ENSEMBL: ENSMUSP00000092751 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000095132
AA Change: I469F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000092751
Gene: ENSMUSG00000037708
AA Change: I469F

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

noncoding transcript
Transcript: ENSMUST00000174811

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.7%

Validation Efficiency

99% (116/117)

Allele List at MGI

Other mutations in this stock

Total: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930539E08Rik	T	G	17: 28,908,363	Q224P	probably benign	Het
Abca6	T	A	11: 110,180,551	I1492F	probably damaging	Het
Ago4	A	C	4: 126,506,842	C693G	probably damaging	Het
Apobec2	T	C	17: 48,423,125	E171G	probably benign	Het
Arfgef3	T	A	10: 18,616,890	I1258F	probably damaging	Het
Arhgef40	A	G	14: 51,990,099	E434G	probably damaging	Het
Baz2b	T	A	2: 59,914,043	T1373S	possibly damaging	Het
Bcas1	T	C	2: 170,378,886	D324G	probably damaging	Het
Bdp1	A	T	13: 100,055,205	V1422E	probably damaging	Het
Bfsp1	C	T	2: 143,827,471	R396Q	probably benign	Het
Bnip1	C	T	17: 26,783,551		probably benign	Het
Bpifb9b	T	A	2: 154,314,106		probably null	Het
Casp8	T	C	1: 58,827,218	F126S	probably damaging	Het
Cdh26	T	C	2: 178,449,821	S58P	probably benign	Het
Cntnap2	T	C	6: 46,530,035		probably benign	Het
Col9a1	T	C	1: 24,237,258	I749T	possibly damaging	Het
Ddx50	A	T	10: 62,627,671	C414*	probably null	Het
Defb42	A	G	14: 63,048,341	I57V	probably benign	Het
Dennd5a	A	G	7: 109,901,089	F943S	probably damaging	Het
Dhx40	G	T	11: 86,804,391	H98N	possibly damaging	Het
Disp2	A	T	2: 118,790,454	S556C	probably damaging	Het
Dpysl5	T	G	5: 30,792,268	F461V	probably damaging	Het
Efcab11	T	C	12: 99,719,062	D151G	probably damaging	Het
Egfem1	T	C	3: 29,151,893	V93A	probably damaging	Het
Ehbp1	T	C	11: 22,146,592	D299G	probably benign	Het
Esyt2	T	C	12: 116,324,140	V226A	probably benign	Het
Fan1	A	T	7: 64,373,538		probably benign	Het
Fasn	T	G	11: 120,816,646	N799T	probably benign	Het
Fbxo3	T	G	2: 104,054,966	N388K	probably damaging	Het
Fer1l4	T	C	2: 156,031,300	K1287E	probably benign	Het
Fn1	A	T	1: 71,595,809		probably null	Het
Fsip2	G	A	2: 82,993,770	V6616I	possibly damaging	Het
Fut8	G	T	12: 77,475,044	A486S	probably damaging	Het
Glp2r	G	T	11: 67,757,593	Y94*	probably null	Het
Gm10764	A	G	10: 87,290,717		noncoding transcript	Het
Gm6788	C	T	19: 28,763,264		noncoding transcript	Het
Gm8122	T	C	14: 43,234,116	N65S	unknown	Het
Golga4	C	A	9: 118,558,145	S1445Y	probably damaging	Het
Gsdmd	A	G	15: 75,864,392	I123M	probably benign	Het
Hsf4	A	G	8: 105,272,735	E235G	probably benign	Het
Ifi206	T	A	1: 173,482,044	T129S	possibly damaging	Het
Jakmip1	G	A	5: 37,091,275	R93Q	probably damaging	Het
Kcnj1	T	A	9: 32,396,760	L160Q	probably damaging	Het
Kif1a	T	A	1: 93,074,978	E233V	probably benign	Het
Krt5	A	T	15: 101,710,307	Y340N	probably damaging	Het
Krt90	T	A	15: 101,562,479	H116L	possibly damaging	Het
Large2	A	G	2: 92,366,107		probably benign	Het
March4	T	G	1: 72,428,779	S365R	probably benign	Het
Mei4	A	G	9: 81,890,163	T10A	probably benign	Het
Meis1	T	C	11: 19,009,222		probably benign	Het
Mllt1	T	C	17: 56,899,813	T344A	probably benign	Het
Mrps28	A	G	3: 8,882,554		probably benign	Het
Ncdn	G	A	4: 126,749,938	L364F	possibly damaging	Het
Nckap1l	A	G	15: 103,483,613	N825S	probably benign	Het
Nfat5	T	A	8: 107,324,652	D47E	probably damaging	Het
Nfix	T	C	8: 84,771,829	I172V	probably benign	Het
Nkx3-1	G	A	14: 69,190,918	G72S	probably benign	Het
Nsf	G	A	11: 103,910,359		probably benign	Het
Olfr1010	T	C	2: 85,754,121		probably benign	Het
Olfr1350	C	T	7: 6,570,644	L218F	possibly damaging	Het
Olfr1459	T	A	19: 13,145,991	I223L	possibly damaging	Het
Olfr353	A	G	2: 36,890,332	I172T	probably damaging	Het
Olfr362	A	T	2: 37,105,158	I164N	possibly damaging	Het
Olfr401	A	T	11: 74,121,879	I197F	probably benign	Het
Olfr577	A	T	7: 102,973,407	I195N	possibly damaging	Het
Olfr988	C	T	2: 85,353,288	V213I	probably benign	Het
Pcdh20	A	C	14: 88,467,668	L732R	probably damaging	Het
Pgbd5	C	A	8: 124,370,566	K408N	probably benign	Het
Pip4k2c	T	C	10: 127,199,327	T391A	possibly damaging	Het
Ppm1k	T	A	6: 57,510,777	N354Y	probably damaging	Het
Prpf18	T	C	2: 4,637,170	D186G	probably benign	Het
Rab3gap1	T	A	1: 127,889,177	W58R	possibly damaging	Het
Rbp3	T	C	14: 33,955,411	Y439H	probably damaging	Het
Rere	T	A	4: 150,619,144	W1528R	probably damaging	Het
Rsf1	T	C	7: 97,662,405	S781P	probably damaging	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Ryr2	A	G	13: 11,594,986	V753A	probably damaging	Het
Schip1	A	T	3: 68,408,485		probably benign	Het
Scin	T	A	12: 40,069,374	I552F	possibly damaging	Het
Scn3a	T	C	2: 65,461,455	N1649S	probably damaging	Het
Sh3rf3	A	T	10: 59,007,103	D297V	probably damaging	Het
Slc20a2	C	T	8: 22,561,004	S351L	probably damaging	Het
Slc35e2	C	A	4: 155,616,236	P272Q	probably damaging	Het
Slc4a1	A	G	11: 102,352,453	V784A	probably damaging	Het
Slco1b2	G	A	6: 141,669,370	V334I	probably benign	Het
Slf2	T	G	19: 44,971,661	D1022E	probably damaging	Het
Spsb2	A	C	6: 124,809,748	E148A	probably benign	Het
Sulf1	A	G	1: 12,818,496	D335G	probably damaging	Het
Tchhl1	A	G	3: 93,470,316	D109G	possibly damaging	Het
Thoc7	T	C	14: 13,953,154	I83V	probably damaging	Het
Thsd7a	A	C	6: 12,327,559	I1438S	probably damaging	Het
Tm4sf1	C	T	3: 57,293,027	G85S	probably damaging	Het
Tmem63a	T	A	1: 180,966,521	I541N	probably benign	Het
Trav6d-4	T	C	14: 52,753,783	F95S	probably damaging	Het
Ttn	T	C	2: 76,759,254	T21219A	probably damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Unc80	T	C	1: 66,646,550	Y2278H	possibly damaging	Het
Usp8	A	T	2: 126,720,140	K85*	probably null	Het
Vmn2r69	T	A	7: 85,406,759	M724L	probably benign	Het
Zeb2	A	G	2: 44,996,882	I706T	probably damaging	Het
Zfp512	T	C	5: 31,476,865	S407P	probably damaging	Het
Zfp791	T	A	8: 85,110,951	I95L	probably benign	Het

Other mutations in Spag6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00505:Spag6	APN	2	18734184	missense	probably benign	0.31
IGL01352:Spag6	APN	2	18710473	missense	possibly damaging	0.77
IGL02795:Spag6	APN	2	18733083	missense	probably benign
IGL03406:Spag6	APN	2	18742873	splice site	probably benign
R0362:Spag6	UTSW	2	18710491	missense	probably damaging	0.99
R0423:Spag6	UTSW	2	18710593	missense	probably benign	0.00
R1309:Spag6	UTSW	2	18734216	missense	probably damaging	1.00
R1386:Spag6	UTSW	2	18734246	missense	possibly damaging	0.49
R1568:Spag6	UTSW	2	18733114	missense	probably benign
R1716:Spag6	UTSW	2	18745609	splice site	probably null
R1771:Spag6	UTSW	2	18734117	missense	probably benign	0.22
R1911:Spag6	UTSW	2	18715805	nonsense	probably null
R1985:Spag6	UTSW	2	18732119	missense	probably benign	0.00
R2029:Spag6	UTSW	2	18734105	unclassified	probably benign
R2131:Spag6	UTSW	2	18733097	nonsense	probably null
R3705:Spag6	UTSW	2	18710557	missense	probably damaging	0.99
R4230:Spag6	UTSW	2	18715638	splice site	probably null
R4585:Spag6	UTSW	2	18732147	critical splice donor site	probably null
R4586:Spag6	UTSW	2	18732147	critical splice donor site	probably null
R4692:Spag6	UTSW	2	18699243	missense	probably benign	0.24
R4745:Spag6	UTSW	2	18737296	missense	possibly damaging	0.78
R4890:Spag6	UTSW	2	18742777	missense	probably benign	0.00
R4914:Spag6	UTSW	2	18745549	missense	probably benign	0.00
R5086:Spag6	UTSW	2	18742877	splice site	probably benign
R5264:Spag6	UTSW	2	18745513	missense	probably benign	0.00
R5729:Spag6	UTSW	2	18715714	missense	probably benign
R5754:Spag6	UTSW	2	18698802	unclassified	probably benign
R5781:Spag6	UTSW	2	18731993	missense	probably benign
R5954:Spag6	UTSW	2	18710606	missense	probably damaging	1.00
R6246:Spag6	UTSW	2	18699095	critical splice donor site	probably null
R7607:Spag6	UTSW	2	18731962	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- GGTACTGACTGAAAAGTTCTCTTCTG -3'
(R):5'- AGCTGTATCTGCCTCTAATACCTTG -3'

Sequencing Primer
(F):5'- GTTTCTATCCTCAAGGTGCT -3'
(R):5'- TGTAGGGATTCACACTTGAGCCC -3'

Posted On

2016-04-15