Mutagenetix > Incidental Mutation

Incidental Mutation 'R1568:Spag6'

175394

Institutional Source

Beutler Lab

Gene Symbol

Spag6

Ensembl Gene

ENSMUSG00000037708

Gene Name

sperm associated antigen 6

Synonyms

BC061194, Spag6l

MMRRC Submission

039607-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R1568 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

18694032-18750413 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 18733114 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 265 (D265G)

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: D265G

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

SMART Domains

Protein: ENSMUSP00000092751
Gene: ENSMUSG00000037708
AA Change: D265G

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

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 90.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	T	C	11: 23,589,971	K48E	probably damaging	Het
4931408C20Rik	T	C	1: 26,685,869	T77A	probably benign	Het
Adam18	T	G	8: 24,647,783		probably null	Het
Adgb	A	T	10: 10,442,665	Y138*	probably null	Het
Adra1d	T	C	2: 131,546,172	R488G	possibly damaging	Het
Ahnak	G	A	19: 9,002,375	G341E	probably damaging	Het
Ankmy1	T	C	1: 92,881,116	D690G	probably damaging	Het
Arhgef38	C	T	3: 133,132,464	E21K	probably damaging	Het
Atp8b2	T	C	3: 89,949,848	M402V	probably damaging	Het
Atp8b4	G	T	2: 126,325,394	H1062N	probably benign	Het
Bdnf	A	G	2: 109,723,794	H131R	probably damaging	Het
Cblb	C	T	16: 52,135,829	T265M	probably damaging	Het
Cenpe	T	A	3: 135,239,758	M1011K	probably benign	Het
Clca2	A	T	3: 145,075,649	Y711*	probably null	Het
Clca4a	A	G	3: 144,952,929	Y842H	probably benign	Het
Clspn	T	A	4: 126,581,517	M1021K	probably benign	Het
Cpne8	G	T	15: 90,619,642	R107S	probably damaging	Het
D6Ertd527e	C	G	6: 87,111,524	T223S	unknown	Het
Dna2	C	T	10: 62,949,187	R28W	probably benign	Het
Dnah5	T	A	15: 28,409,177	N3580K	probably damaging	Het
Dsp	T	C	13: 38,175,147	I298T	probably damaging	Het
Dync2h1	T	C	9: 7,157,553	K858R	probably null	Het
Fasn	A	T	11: 120,813,249	V1448E	possibly damaging	Het
Ghdc	A	G	11: 100,768,505	I322T	probably benign	Het
Gins2	T	C	8: 120,582,200	D105G	probably damaging	Het
Insr	A	T	8: 3,165,576	D975E	probably benign	Het
Klrc3	T	C	6: 129,639,547	D169G	probably benign	Het
Krt76	T	A	15: 101,885,008	S532C	unknown	Het
Lamp3	A	T	16: 19,673,525	M323K	probably damaging	Het
Lgmn	T	C	12: 102,394,609	I423M	possibly damaging	Het
Lpgat1	A	T	1: 191,776,426	T359S	possibly damaging	Het
Lrguk	T	A	6: 34,086,438	I466N	probably damaging	Het
Magi3	A	C	3: 104,089,527	M234R	probably benign	Het
Myh14	G	A	7: 44,611,698	R1042*	probably null	Het
Nfia	T	G	4: 98,111,224	Y378D	possibly damaging	Het
Npffr1	T	A	10: 61,626,233	S383T	possibly damaging	Het
Olfr1308	C	A	2: 111,960,240	V278F	probably benign	Het
Olfr1410	T	C	1: 92,607,954	L39P	probably damaging	Het
Olfr1466	C	A	19: 13,342,175	P139Q	probably benign	Het
Olfr658	T	A	7: 104,644,770	I199F	probably benign	Het
Osr1	G	A	12: 9,579,798		probably null	Het
Pde4b	A	C	4: 102,597,699	R375S	probably damaging	Het
Pde8a	A	G	7: 81,292,263	E150G	probably damaging	Het
Pkhd1l1	A	T	15: 44,545,501		probably null	Het
Ppp3ca	A	G	3: 136,928,544	T422A	probably benign	Het
Proser1	T	C	3: 53,477,759	V354A	possibly damaging	Het
Rgs20	G	T	1: 5,020,827	R127S	probably benign	Het
Sec22a	T	C	16: 35,347,628	D171G	probably benign	Het
Secisbp2	A	G	13: 51,673,107	E417G	possibly damaging	Het
Serpinb6b	T	C	13: 32,974,912	L32S	probably damaging	Het
Sf3b1	C	G	1: 55,019,395	E12Q	possibly damaging	Het
Slc39a10	A	T	1: 46,826,215	S487T	probably benign	Het
Slc6a1	G	T	6: 114,307,770	G263V	probably damaging	Het
Sybu	G	T	15: 44,718,832	S132*	probably null	Het
Virma	T	C	4: 11,528,776	S1288P	probably damaging	Het
Vmn1r229	T	A	17: 20,814,805	V104D	probably damaging	Het
Vmn1r238	T	C	18: 3,123,358	T19A	probably benign	Het
Vmn2r86	C	T	10: 130,453,141	V164I	probably benign	Het
Wfdc13	G	T	2: 164,686,934	A64S	probably damaging	Het
Zfp873	C	A	10: 82,060,279	H318Q	probably damaging	Het
Zyg11a	A	G	4: 108,183,646		probably null	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
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
R4918: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
R8261:Spag6	UTSW	2	18745490	missense	probably benign	0.01
R8411:Spag6	UTSW	2	18710583	missense	probably damaging	1.00
R8865:Spag6	UTSW	2	18734117	missense	probably benign	0.22
R9275:Spag6	UTSW	2	18699174	missense	probably benign	0.28
R9278:Spag6	UTSW	2	18699174	missense	probably benign	0.28
R9413:Spag6	UTSW	2	18734218	missense	probably benign
R9451:Spag6	UTSW	2	18710558	nonsense	probably null
R9660:Spag6	UTSW	2	18699236	missense	probably benign	0.37

Predicted Primers

PCR Primer
(F):5'- CAACAGCTCAGAAATCTTAGCTTGTGC -3'
(R):5'- GAGGCTTGGAGTCTTCCCACAATC -3'

Sequencing Primer
(F):5'- GCTTGTGCTAAATATCTATGTTGC -3'
(R):5'- tttcccacctacagtcacatc -3'

Posted On

2014-04-24