Mutagenetix > Incidental Mutation

Incidental Mutation 'R8261:Spag6'

639898

Institutional Source

Beutler Lab

Gene Symbol

Spag6

Ensembl Gene

ENSMUSG00000037708

Gene Name

sperm associated antigen 6

Synonyms

BC061194, Spag6l

MMRRC Submission

067686-MU

Accession Numbers

Essential gene?

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

Stock #

R8261 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

18698808-18754561 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 18750301 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 449 (L449H)

Ref Sequence

ENSEMBL: ENSMUSP00000092751 (fasta)

Gene Model

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

AlphaFold

Q3V0U9

Predicted Effect

probably benign
Transcript: ENSMUST00000095132
AA Change: L449H

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000092751
Gene: ENSMUSG00000037708
AA Change: L449H

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

Meta Mutation Damage Score

0.1210

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (76/76)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933412E24Rik	T	C	15: 59,888,425 (GRCm39)	E5G	probably benign	Het
Adam23	T	C	1: 63,567,957 (GRCm39)	V202A	noncoding transcript	Het
Adamtsl1	A	C	4: 86,195,120 (GRCm39)	E512D	probably damaging	Het
Ahnak	A	T	19: 8,982,817 (GRCm39)	D1367V	probably damaging	Het
Angpt4	A	T	2: 151,769,084 (GRCm39)	Q198L	probably benign	Het
Apcdd1	T	A	18: 63,066,974 (GRCm39)	H29Q	possibly damaging	Het
Cdh16	T	A	8: 105,341,811 (GRCm39)	K755*	probably null	Het
Cdk6	T	G	5: 3,440,685 (GRCm39)	F80V	probably benign	Het
Chd1	T	C	17: 17,607,804 (GRCm39)	S451P	probably benign	Het
Chd6	A	G	2: 160,799,002 (GRCm39)	L2361P	probably damaging	Het
Chst8	A	G	7: 34,447,579 (GRCm39)	M13T	possibly damaging	Het
Cntnap2	T	C	6: 47,072,627 (GRCm39)	L1065P	probably damaging	Het
Dctn4	T	C	18: 60,659,343 (GRCm39)	V14A	possibly damaging	Het
Dicer1	A	T	12: 104,657,865 (GRCm39)	V1903D	probably damaging	Het
E2f2	A	G	4: 135,911,791 (GRCm39)		silent	Het
Eif4g3	T	A	4: 137,898,429 (GRCm39)	S902T	possibly damaging	Het
Emid1	G	T	11: 5,084,353 (GRCm39)	A152D	probably benign	Het
Fer1l6	T	A	15: 58,432,345 (GRCm39)	N297K	possibly damaging	Het
Fes	T	C	7: 80,032,902 (GRCm39)	D281G	probably null	Het
Frmpd2	T	C	14: 33,224,934 (GRCm39)	V133A	probably benign	Het
Fry	A	G	5: 150,369,372 (GRCm39)	Y2282C	probably damaging	Het
Gm10377	C	T	14: 42,616,664 (GRCm39)		probably null	Het
Gm1527	A	G	3: 28,974,749 (GRCm39)	T521A	probably damaging	Het
Gpr141	T	A	13: 19,936,013 (GRCm39)	H254L	probably benign	Het
Gpr160	A	G	3: 30,950,096 (GRCm39)	E56G	probably benign	Het
Grid2ip	T	G	5: 143,367,695 (GRCm39)		probably null	Het
Grin2a	A	G	16: 9,481,382 (GRCm39)	F473S	probably damaging	Het
Igkv1-131	T	C	6: 67,743,102 (GRCm39)	T94A	probably damaging	Het
Inava	T	A	1: 136,153,215 (GRCm39)	N226Y	probably damaging	Het
Iqgap2	A	G	13: 95,772,078 (GRCm39)	L1367P	probably damaging	Het
Kdm5d	T	A	Y: 936,929 (GRCm39)	M856K	probably damaging	Het
Kirrel1	T	C	3: 86,995,309 (GRCm39)		probably benign	Het
Lad1	T	C	1: 135,755,500 (GRCm39)	S259P	probably damaging	Het
Lalba	A	T	15: 98,379,992 (GRCm39)	F86Y	possibly damaging	Het
Lrfn5	G	A	12: 61,886,323 (GRCm39)	C37Y	probably damaging	Het
Man2c1	A	G	9: 57,046,942 (GRCm39)	T665A	probably benign	Het
Ms4a20	T	A	19: 11,087,707 (GRCm39)	S75C	probably damaging	Het
Myh11	T	C	16: 14,041,867 (GRCm39)	I719V		Het
Nbl1	A	T	4: 138,812,832 (GRCm39)	C34S	probably damaging	Het
Ncapg	T	A	5: 45,844,730 (GRCm39)	I575N	possibly damaging	Het
Nlgn1	T	C	3: 25,487,816 (GRCm39)	T840A	possibly damaging	Het
Nrdc	T	C	4: 108,873,876 (GRCm39)	S231P	possibly damaging	Het
Nrg2	T	C	18: 36,165,428 (GRCm39)	K395E	probably benign	Het
Nrip1	A	T	16: 76,088,949 (GRCm39)	N869K	possibly damaging	Het
Or2a14	T	A	6: 43,130,242 (GRCm39)	M1K	probably null	Het
Or4c12	A	G	2: 89,773,716 (GRCm39)	F248L	probably benign	Het
Or8s16	A	T	15: 98,210,546 (GRCm39)	M295K	probably benign	Het
Otub2	G	T	12: 103,369,161 (GRCm39)		probably null	Het
Paxbp1	T	C	16: 90,834,303 (GRCm39)	D161G	probably benign	Het
Pcnx3	C	T	19: 5,715,412 (GRCm39)	G1946E	probably damaging	Het
Per2	T	A	1: 91,361,170 (GRCm39)	Q495L	possibly damaging	Het
Plxna2	T	A	1: 194,431,724 (GRCm39)	V571E	probably damaging	Het
Prr7	C	A	13: 55,620,735 (GRCm39)	P248T	possibly damaging	Het
Ptprr	A	T	10: 116,073,169 (GRCm39)	T464S	possibly damaging	Het
Rapgef2	A	G	3: 78,993,325 (GRCm39)	V721A	probably benign	Het
Rfx1	A	T	8: 84,819,479 (GRCm39)	Y625F	probably benign	Het
Rps6kb2	G	T	19: 4,211,195 (GRCm39)	A110D	possibly damaging	Het
Setdb2	A	T	14: 59,651,141 (GRCm39)		probably benign	Het
Slc25a31	T	C	3: 40,679,351 (GRCm39)	I272T	probably damaging	Het
Smpd1	T	C	7: 105,204,520 (GRCm39)	V133A	probably benign	Het
Sorl1	T	C	9: 41,925,777 (GRCm39)	D1185G	probably damaging	Het
Sptb	C	A	12: 76,668,036 (GRCm39)	R687L	probably benign	Het
Sptbn5	A	T	2: 119,877,616 (GRCm39)	V1012E	noncoding transcript	Het
Tmem192	A	G	8: 65,416,972 (GRCm39)	I188V	probably benign	Het
Tmem253	G	A	14: 52,256,708 (GRCm39)	V194M	probably benign	Het
Tph1	A	G	7: 46,303,173 (GRCm39)		silent	Het
Trak1	A	G	9: 121,280,733 (GRCm39)	E374G	probably damaging	Het
Trpv1	A	T	11: 73,145,593 (GRCm39)		probably null	Het
Trub2	T	C	2: 29,667,725 (GRCm39)	H305R	probably benign	Het
Ttn	A	G	2: 76,747,768 (GRCm39)	V4427A	probably benign	Het
Vasn	A	G	16: 4,466,160 (GRCm39)	T36A	probably damaging	Het
Vmn1r8	A	T	6: 57,013,158 (GRCm39)	I70F	probably benign	Het
Vps13c	A	T	9: 67,862,262 (GRCm39)	I2960L	probably damaging	Het
Zdhhc4	C	A	5: 143,307,588 (GRCm39)	M144I	probably benign	Het
Zfp273	T	A	13: 67,974,070 (GRCm39)	N399K	probably benign	Het
Zfp976	T	A	7: 42,262,125 (GRCm39)	T572S	unknown	Het
Zmym4	A	G	4: 126,798,360 (GRCm39)	C756R	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
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'- GGTCTCCACCAGTGTTACTCAC -3'
(R):5'- GCTGGCTTGTCACTTCCATG -3'

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

Posted On

2020-07-28