Mutagenetix > Incidental Mutation

Incidental Mutation 'R9413:Spag6'

711883

Institutional Source

Beutler Lab

Gene Symbol

Spag6

Ensembl Gene

ENSMUSG00000037708

Gene Name

sperm associated antigen 6

Synonyms

BC061194, Spag6l

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9413 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

18694032-18750413 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 18734218 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 320 (M320L)

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: M320L

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

SMART Domains

Protein: ENSMUSP00000092751
Gene: ENSMUSG00000037708
AA Change: M320L

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

97% (35/36)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	T	7: 120,527,199	T1194S	probably benign	Het
Akr7a5	A	T	4: 139,310,748		probably benign	Het
Ap3b2	G	T	7: 81,478,009	P140T	possibly damaging	Het
Ap3s1	T	C	18: 46,754,464		probably null	Het
Arrdc2	C	T	8: 70,836,248	R381H	probably damaging	Het
Atg13	T	C	2: 91,681,625	D286G	probably benign	Het
C1qtnf4	T	C	2: 90,890,304	F307S	probably damaging	Het
Cdk5rap1	A	T	2: 154,365,960		probably null	Het
Chsy3	C	T	18: 59,176,098	A141V	possibly damaging	Het
Creb3l1	C	T	2: 91,991,886		probably null	Het
D5Ertd579e	A	G	5: 36,614,934	S706P	probably damaging	Het
Ell2	A	G	13: 75,769,586	D545G		Het
Ephb6	T	C	6: 41,614,575	L222P		Het
Flnc	G	A	6: 29,441,485	R422Q	probably benign	Het
Gm6619	A	T	6: 131,491,407	D167V	unknown	Het
Gucy2c	T	C	6: 136,723,773	D581G	possibly damaging	Het
Hectd1	G	A	12: 51,746,097	R2471*	probably null	Het
Kif1a	A	T	1: 93,021,297	M1501K	probably benign	Het
Mycbpap	A	G	11: 94,501,495	V390A	probably damaging	Het
Olfr136	A	T	17: 38,335,429	T91S	possibly damaging	Het
Pex3	A	G	10: 13,534,710	Y236H	probably damaging	Het
Pglyrp3	G	T	3: 92,022,799	A91S	probably damaging	Het
Ppp1ca	T	C	19: 4,194,898	S292P	probably damaging	Het
Prkci	T	C	3: 31,043,766	V455A	probably damaging	Het
Prrx1	A	G	1: 163,312,613	V8A	probably benign	Het
Psd4	C	T	2: 24,397,460	T468I	probably benign	Het
Rnf213	A	G	11: 119,466,233	E4203G		Het
Snrnp27	T	C	6: 86,676,273	D121G	possibly damaging	Het
Spata16	T	A	3: 26,924,337	M484K	possibly damaging	Het
Trim69	G	A	2: 122,178,602	W381*	probably null	Het
Tubgcp3	A	C	8: 12,624,885	I745S	probably damaging	Het
Ubxn2b	A	G	4: 6,204,607	D156G	probably damaging	Het
Vmn2r103	A	G	17: 19,811,896	N644S	possibly damaging	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
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
R9451:Spag6	UTSW	2	18710558	nonsense	probably null
R9660:Spag6	UTSW	2	18699236	missense	probably benign	0.37

Predicted Primers

PCR Primer
(F):5'- CACCATTGCCAGGTAGTTTTAAG -3'
(R):5'- TCTGGGTGCATGGAAGTGAC -3'

Sequencing Primer
(F):5'- GCCAGGTAGTTTTAAGTACTAAACAG -3'
(R):5'- TCCTGGTGTCAGTCTATGG -3'

Posted On

2022-05-16