Mutagenetix > Incidental Mutation

Incidental Mutation 'R5754:Spag6'

444931

Institutional Source

Beutler Lab

Gene Symbol

Spag6

Ensembl Gene

ENSMUSG00000037708

Gene Name

sperm associated antigen 6

Synonyms

BC061194, Spag6l

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R5754 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18698808-18754561 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 18703613 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133383 (fasta)

Gene Model

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

AlphaFold

Q3V0U9

Predicted Effect

probably benign
Transcript: ENSMUST00000095132

SMART Domains

Protein: ENSMUSP00000092751
Gene: ENSMUSG00000037708

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: ENSMUST00000137796

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138017

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.8%

Validation Efficiency

98% (61/62)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	A	5: 8,984,320 (GRCm39)	N683K	probably benign	Het
Atad2b	T	A	12: 5,060,351 (GRCm39)	H915Q	probably benign	Het
Bltp2	T	C	11: 78,160,367 (GRCm39)	S609P	probably damaging	Het
Camk1d	G	T	2: 5,449,908 (GRCm39)	P91Q	probably benign	Het
Camk1d	G	C	2: 5,449,910 (GRCm39)	S90R	probably damaging	Het
Card11	T	C	5: 140,885,524 (GRCm39)	E345G	probably damaging	Het
Ccpg1	G	T	9: 72,920,526 (GRCm39)	V714L	possibly damaging	Het
Chst9	T	C	18: 15,586,254 (GRCm39)	E103G	possibly damaging	Het
Cnga1	C	T	5: 72,762,615 (GRCm39)	V300I	probably benign	Het
Crb1	T	C	1: 139,159,337 (GRCm39)	Y1295C	probably damaging	Het
Dnah5	A	G	15: 28,402,014 (GRCm39)	T3392A	probably benign	Het
Elp3	C	A	14: 65,785,439 (GRCm39)	R473L	probably damaging	Het
Epgn	T	A	5: 91,181,807 (GRCm39)	I145N	probably benign	Het
Fam107b	G	A	2: 3,779,457 (GRCm39)	G220D	probably damaging	Het
Fbn2	A	G	18: 58,257,383 (GRCm39)	V328A	probably benign	Het
Fn1	A	T	1: 71,639,481 (GRCm39)	I1770N	probably damaging	Het
Fndc1	T	A	17: 7,988,585 (GRCm39)	Y1159F	unknown	Het
Frem2	A	G	3: 53,444,679 (GRCm39)	L2484P	probably damaging	Het
Grk2	C	T	19: 4,340,496 (GRCm39)	R295H	probably damaging	Het
Gtf3c1	A	T	7: 125,243,237 (GRCm39)	V1789D	possibly damaging	Het
Hmgcl	T	C	4: 135,677,898 (GRCm39)	V33A	probably damaging	Het
Ighv7-1	A	G	12: 113,860,239 (GRCm39)	F51S	probably damaging	Het
Kcna6	A	G	6: 126,716,688 (GRCm39)	L67P	probably damaging	Het
Lamc1	A	T	1: 153,123,030 (GRCm39)	V720E	probably benign	Het
Lrch1	T	C	14: 75,054,558 (GRCm39)	D312G	probably damaging	Het
Mix23	A	G	16: 35,905,427 (GRCm39)	N63S	probably benign	Het
Nav2	A	G	7: 49,206,794 (GRCm39)	T1540A	probably damaging	Het
Nisch	A	T	14: 30,913,373 (GRCm39)		probably benign	Het
Nos1ap	T	A	1: 170,176,968 (GRCm39)	K145M	probably damaging	Het
Npc1l1	A	G	11: 6,177,839 (GRCm39)	Y524H	probably damaging	Het
Nrap	T	C	19: 56,377,916 (GRCm39)	T25A	possibly damaging	Het
Nusap1	A	G	2: 119,477,580 (GRCm39)	K363R	probably damaging	Het
Or5ar1	T	C	2: 85,671,656 (GRCm39)	T160A	probably damaging	Het
Or5b124	A	G	19: 13,611,357 (GRCm39)	E294G	probably damaging	Het
Or7e177	T	A	9: 20,212,390 (GRCm39)	L298Q	probably damaging	Het
Pde4d	T	C	13: 110,074,547 (GRCm39)	I384T	probably damaging	Het
Pkhd1	T	A	1: 20,593,875 (GRCm39)	R1413*	probably null	Het
Plcd3	T	A	11: 102,964,592 (GRCm39)	Y593F	possibly damaging	Het
Plxna1	A	T	6: 89,310,087 (GRCm39)	I1026N	possibly damaging	Het
Podxl	T	A	6: 31,501,329 (GRCm39)	I409F	probably damaging	Het
Polq	A	C	16: 36,837,625 (GRCm39)	Q179P	probably benign	Het
Pomt1	T	C	2: 32,137,602 (GRCm39)	V401A	probably damaging	Het
Qdpr	C	T	5: 45,596,727 (GRCm39)	G146S	probably damaging	Het
Shc4	T	A	2: 125,512,218 (GRCm39)	Q2L	probably damaging	Het
Skint8	T	A	4: 111,807,387 (GRCm39)	C358S	probably benign	Het
Smc5	T	C	19: 23,221,467 (GRCm39)	E354G	possibly damaging	Het
Snx30	T	C	4: 59,868,275 (GRCm39)	V129A	probably damaging	Het
Sp110	G	C	1: 85,504,923 (GRCm39)		probably benign	Het
Trim28	T	A	7: 12,763,036 (GRCm39)	Y450N	probably benign	Het
Trip11	C	T	12: 101,851,924 (GRCm39)	W428*	probably null	Het
Umodl1	T	A	17: 31,213,761 (GRCm39)	V966E	probably damaging	Het
Utf1	A	G	7: 139,524,704 (GRCm39)		probably benign	Het
Vmn1r72	T	C	7: 11,403,776 (GRCm39)	Y224C	probably damaging	Het
Whrn	A	G	4: 63,334,825 (GRCm39)	S748P	probably damaging	Het
Zbtb41	T	A	1: 139,359,816 (GRCm39)		probably null	Het
Zfhx3	T	C	8: 109,526,964 (GRCm39)	F954L	probably damaging	Het
Zfp456	A	T	13: 67,514,359 (GRCm39)	I449K	probably benign	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
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
R8411:Spag6	UTSW	2	18,715,394 (GRCm39)	missense	probably damaging	1.00
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'- TTCGGAAATCAGAAGTGCCAG -3'
(R):5'- AACCAGTCGGAATCGGAACG -3'

Sequencing Primer
(F):5'- CATTAAGAGCAACACGGAGTAATGTG -3'
(R):5'- ACGCAGCCGTCCTGTCG -3'

Posted On

2016-11-21