Mutagenetix > Incidental Mutation

Incidental Mutation 'R4711:Spag9'

397188

Institutional Source

Beutler Lab

Gene Symbol

Spag9

Ensembl Gene

ENSMUSG00000020859

Gene Name

sperm associated antigen 9

Synonyms

JLP, Mapk8ip4, 3110018C07Rik, JIP4, 4733401I23Rik, syd1, 4831406C20Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.737) question?

Stock #

R4711 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

93886917-94016911 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 94005177 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117502 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024979] [ENSMUST00000041956] [ENSMUST00000075695] [ENSMUST00000092777] [ENSMUST00000103168] [ENSMUST00000153076]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000024979

SMART Domains

Protein: ENSMUSP00000024979
Gene: ENSMUSG00000020859

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
PDB:2W83\|D	253	305	1e-25	PDB
low complexity region	306	339	N/A	INTRINSIC
coiled coil region	572	606	N/A	INTRINSIC
low complexity region	735	751	N/A	INTRINSIC
SCOP:d1kb0a2	823	969	3e-5	SMART
Blast:WD40	924	964	8e-18	BLAST
low complexity region	1132	1150	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000041956

SMART Domains

Protein: ENSMUSP00000042271
Gene: ENSMUSG00000020859

Domain	Start	End	E-Value	Type
Pfam:Jnk-SapK_ap_N	24	179	2e-61	PFAM
Pfam:JIP_LZII	390	460	5.3e-32	PFAM
coiled coil region	710	744	N/A	INTRINSIC
low complexity region	873	889	N/A	INTRINSIC
SCOP:d1kb0a2	961	1107	1e-5	SMART
Blast:WD40	1062	1102	1e-17	BLAST
low complexity region	1270	1288	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000075695

SMART Domains

Protein: ENSMUSP00000075115
Gene: ENSMUSG00000020859

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
PDB:2W83\|D	253	305	1e-25	PDB
low complexity region	306	339	N/A	INTRINSIC
coiled coil region	571	605	N/A	INTRINSIC
low complexity region	734	750	N/A	INTRINSIC
SCOP:d1kb0a2	822	968	3e-5	SMART
Blast:WD40	923	963	7e-18	BLAST
low complexity region	1131	1149	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000092777

SMART Domains

Protein: ENSMUSP00000090452
Gene: ENSMUSG00000020859

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
PDB:2W83\|D	254	306	1e-25	PDB
low complexity region	307	340	N/A	INTRINSIC
coiled coil region	572	606	N/A	INTRINSIC
low complexity region	735	751	N/A	INTRINSIC
SCOP:d1kb0a2	823	969	3e-5	SMART
Blast:WD40	924	964	7e-18	BLAST
low complexity region	1132	1150	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000103168

SMART Domains

Protein: ENSMUSP00000099457
Gene: ENSMUSG00000020859

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
PDB:2W83\|D	249	301	1e-25	PDB
low complexity region	302	335	N/A	INTRINSIC
coiled coil region	567	601	N/A	INTRINSIC
low complexity region	730	746	N/A	INTRINSIC
SCOP:d1kb0a2	818	964	3e-5	SMART
Blast:WD40	919	959	8e-18	BLAST
low complexity region	1127	1145	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000153076

SMART Domains

Protein: ENSMUSP00000117502
Gene: ENSMUSG00000020859

Domain	Start	End	E-Value	Type
PDB:2W83\|D	1	25	4e-8	PDB
low complexity region	26	59	N/A	INTRINSIC
coiled coil region	291	325	N/A	INTRINSIC
low complexity region	454	470	N/A	INTRINSIC
SCOP:d1kb0a2	542	688	3e-5	SMART
Blast:WD40	643	683	1e-17	BLAST
low complexity region	864	882	N/A	INTRINSIC

Meta Mutation Damage Score

0.9594

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cancer testis antigen gene family. The encoded protein functions as a scaffold protein that structurally organizes mitogen-activated protein kinases and mediates c-Jun-terminal kinase signaling. This protein also binds to kinesin-1 and may be involved in microtubule-based membrane transport. This protein may play a role in tumor growth and development. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]
PHENOTYPE: Male mice homozygous for a null mutation display reduced fertility with oligoasthenozoospermia. [provided by MGI curators]

Allele List at MGI

All alleles(5) : Targeted, knock-out(1) Gene trapped(4)

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atg14	G	A	14: 47,783,298 (GRCm39)	R346C	probably damaging	Het
Bin3	A	G	14: 70,366,288 (GRCm39)		probably null	Het
Ccser1	A	G	6: 61,288,910 (GRCm39)	N358D	possibly damaging	Het
Col20a1	G	C	2: 180,634,284 (GRCm39)	G83A	probably damaging	Het
Copa	T	G	1: 171,947,555 (GRCm39)	F1124V	probably damaging	Het
Cyp2c66	G	A	19: 39,151,843 (GRCm39)	R186H	possibly damaging	Het
Dmxl2	G	A	9: 54,358,208 (GRCm39)	T323M	probably benign	Het
Dner	T	C	1: 84,361,618 (GRCm39)	I664V	possibly damaging	Het
Erp29	A	G	5: 121,583,293 (GRCm39)	I211T	possibly damaging	Het
Exd1	A	G	2: 119,369,232 (GRCm39)	S128P	possibly damaging	Het
Grik4	T	A	9: 42,540,389 (GRCm39)	N264Y	probably damaging	Het
Gsdma2	T	A	11: 98,540,439 (GRCm39)	S119R	probably damaging	Het
H2ac1	C	T	13: 24,118,796 (GRCm39)	P118S	possibly damaging	Het
Ift140	T	A	17: 25,313,691 (GRCm39)		probably null	Het
Ino80c	T	C	18: 24,247,222 (GRCm39)	N59S	probably benign	Het
Maob	T	C	X: 16,582,662 (GRCm39)	T400A	probably benign	Het
Mast4	A	G	13: 103,470,627 (GRCm39)	V25A	probably benign	Het
Mr1	T	C	1: 155,012,336 (GRCm39)	T193A	probably benign	Het
Muc5b	C	A	7: 141,399,770 (GRCm39)	F414L	unknown	Het
Nat10	A	T	2: 103,578,612 (GRCm39)	C197*	probably null	Het
Nt5c1b	A	G	12: 10,420,093 (GRCm39)	K11E	probably damaging	Het
Or5k8	A	T	16: 58,645,069 (GRCm39)	M1K	probably null	Het
Or8i2	T	C	2: 86,852,370 (GRCm39)	I173V	probably damaging	Het
Pak5	A	G	2: 135,929,437 (GRCm39)	I582T	probably damaging	Het
Pcdha12	A	G	18: 37,153,976 (GRCm39)	I232V	probably benign	Het
Pde8b	T	A	13: 95,166,958 (GRCm39)	T664S	probably benign	Het
Pdik1l	G	C	4: 134,006,301 (GRCm39)	R214G	probably benign	Het
Prss37	C	T	6: 40,492,381 (GRCm39)	V157M	probably benign	Het
Psma5-ps	A	G	10: 85,149,667 (GRCm39)		noncoding transcript	Het
Ring1	T	C	17: 34,241,333 (GRCm39)	E261G	possibly damaging	Het
Sf3a3	C	A	4: 124,621,974 (GRCm39)	D371E	probably benign	Het
Spred1	T	A	2: 117,005,866 (GRCm39)	S209R	probably benign	Het
Tas2r121	T	C	6: 132,677,853 (GRCm39)	T40A	probably benign	Het
Tbc1d5	T	C	17: 51,242,537 (GRCm39)	T187A	probably damaging	Het
Tenm2	C	T	11: 36,191,039 (GRCm39)	V311I	probably damaging	Het
Thoc2l	T	C	5: 104,667,527 (GRCm39)	V683A	probably damaging	Het
Tnrc6a	A	G	7: 122,770,301 (GRCm39)	D697G	probably damaging	Het
Trappc14	T	C	5: 138,261,167 (GRCm39)		probably benign	Het
Ttn	G	A	2: 76,660,404 (GRCm39)	A7439V	possibly damaging	Het
Wdr64	T	C	1: 175,626,795 (GRCm39)	I838T	probably damaging	Het
Wdr7	A	G	18: 63,861,536 (GRCm39)	T183A	probably benign	Het

Other mutations in Spag9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00422:Spag9	APN	11	93,988,692 (GRCm39)	missense	probably benign	0.02
IGL01776:Spag9	APN	11	94,007,553 (GRCm39)	splice site	probably benign
IGL02095:Spag9	APN	11	93,999,408 (GRCm39)	missense	probably damaging	1.00
IGL02307:Spag9	APN	11	93,992,986 (GRCm39)	critical splice donor site	probably null
IGL02417:Spag9	APN	11	94,007,567 (GRCm39)	missense	probably benign	0.27
IGL02480:Spag9	APN	11	93,999,413 (GRCm39)	nonsense	probably null
IGL02864:Spag9	APN	11	93,997,487 (GRCm39)	missense	probably damaging	1.00
IGL02976:Spag9	APN	11	93,974,779 (GRCm39)	missense	probably benign	0.30
IGL02979:Spag9	APN	11	93,988,190 (GRCm39)	missense	probably benign
IGL03349:Spag9	APN	11	93,984,335 (GRCm39)	missense	possibly damaging	0.51
dazzle	UTSW	11	93,984,450 (GRCm39)	nonsense	probably null
R0128:Spag9	UTSW	11	93,984,365 (GRCm39)	missense	probably damaging	1.00
R0418:Spag9	UTSW	11	93,982,579 (GRCm39)	splice site	probably benign
R1463:Spag9	UTSW	11	94,007,663 (GRCm39)	missense	probably damaging	1.00
R1593:Spag9	UTSW	11	93,988,059 (GRCm39)	missense	probably damaging	1.00
R1605:Spag9	UTSW	11	93,939,365 (GRCm39)	missense	probably damaging	0.99
R1649:Spag9	UTSW	11	93,999,278 (GRCm39)	splice site	probably null
R1697:Spag9	UTSW	11	93,887,391 (GRCm39)	missense	probably benign	0.00
R1952:Spag9	UTSW	11	93,988,184 (GRCm39)	missense	possibly damaging	0.77
R2011:Spag9	UTSW	11	93,983,201 (GRCm39)	nonsense	probably null
R2012:Spag9	UTSW	11	93,983,201 (GRCm39)	nonsense	probably null
R2351:Spag9	UTSW	11	93,983,726 (GRCm39)	missense	probably damaging	1.00
R2367:Spag9	UTSW	11	94,007,583 (GRCm39)	missense	probably damaging	1.00
R3027:Spag9	UTSW	11	93,977,203 (GRCm39)	missense	probably null	1.00
R3766:Spag9	UTSW	11	93,951,109 (GRCm39)	intron	probably benign
R3777:Spag9	UTSW	11	93,989,852 (GRCm39)	critical splice acceptor site	probably null
R3937:Spag9	UTSW	11	93,935,305 (GRCm39)	missense	possibly damaging	0.92
R3937:Spag9	UTSW	11	93,935,243 (GRCm39)	missense	possibly damaging	0.94
R4417:Spag9	UTSW	11	93,951,172 (GRCm39)	intron	probably benign
R4445:Spag9	UTSW	11	93,988,079 (GRCm39)	missense	possibly damaging	0.95
R4799:Spag9	UTSW	11	93,939,343 (GRCm39)	missense	probably damaging	0.96
R4799:Spag9	UTSW	11	93,939,342 (GRCm39)	missense	possibly damaging	0.87
R4816:Spag9	UTSW	11	93,939,425 (GRCm39)	intron	probably benign
R4843:Spag9	UTSW	11	93,988,644 (GRCm39)	missense	probably damaging	1.00
R5020:Spag9	UTSW	11	93,988,612 (GRCm39)	missense	probably benign	0.08
R5119:Spag9	UTSW	11	94,013,548 (GRCm39)	missense	probably damaging	1.00
R5298:Spag9	UTSW	11	93,990,961 (GRCm39)	missense	probably damaging	1.00
R5304:Spag9	UTSW	11	93,959,838 (GRCm39)	missense	probably damaging	1.00
R5305:Spag9	UTSW	11	93,959,838 (GRCm39)	missense	probably damaging	1.00
R5395:Spag9	UTSW	11	93,982,577 (GRCm39)	splice site	probably null
R5636:Spag9	UTSW	11	93,959,838 (GRCm39)	missense	probably damaging	1.00
R5638:Spag9	UTSW	11	93,959,838 (GRCm39)	missense	probably damaging	1.00
R5654:Spag9	UTSW	11	93,981,538 (GRCm39)	missense	probably damaging	1.00
R5779:Spag9	UTSW	11	94,005,079 (GRCm39)	missense	probably benign	0.20
R5814:Spag9	UTSW	11	93,973,654 (GRCm39)	missense	possibly damaging	0.94
R5912:Spag9	UTSW	11	93,935,251 (GRCm39)	missense	probably damaging	0.98
R6038:Spag9	UTSW	11	94,002,918 (GRCm39)	missense	probably damaging	1.00
R6038:Spag9	UTSW	11	94,002,918 (GRCm39)	missense	probably damaging	1.00
R6269:Spag9	UTSW	11	93,935,333 (GRCm39)	missense	probably benign	0.05
R6294:Spag9	UTSW	11	93,984,311 (GRCm39)	critical splice acceptor site	probably null
R6389:Spag9	UTSW	11	93,977,137 (GRCm39)	missense	probably damaging	1.00
R6420:Spag9	UTSW	11	93,977,128 (GRCm39)	missense	probably damaging	1.00
R6460:Spag9	UTSW	11	93,959,801 (GRCm39)	missense	probably damaging	1.00
R6482:Spag9	UTSW	11	93,984,328 (GRCm39)	missense	possibly damaging	0.94
R6860:Spag9	UTSW	11	93,972,196 (GRCm39)	missense	probably benign	0.25
R7086:Spag9	UTSW	11	93,988,690 (GRCm39)	missense	probably benign
R7179:Spag9	UTSW	11	93,980,258 (GRCm39)	splice site	probably null
R7225:Spag9	UTSW	11	93,988,184 (GRCm39)	missense	probably damaging	0.98
R7351:Spag9	UTSW	11	93,983,802 (GRCm39)	missense	probably benign	0.00
R7366:Spag9	UTSW	11	93,999,347 (GRCm39)	missense	possibly damaging	0.56
R7378:Spag9	UTSW	11	94,005,177 (GRCm39)	critical splice donor site	probably null
R7401:Spag9	UTSW	11	93,988,515 (GRCm39)	missense	probably benign
R7506:Spag9	UTSW	11	93,999,290 (GRCm39)	missense	probably damaging	1.00
R7507:Spag9	UTSW	11	93,958,906 (GRCm39)	missense	probably benign	0.00
R7513:Spag9	UTSW	11	94,002,909 (GRCm39)	missense	probably damaging	1.00
R7655:Spag9	UTSW	11	93,887,389 (GRCm39)	missense	possibly damaging	0.56
R7656:Spag9	UTSW	11	93,887,389 (GRCm39)	missense	possibly damaging	0.56
R7664:Spag9	UTSW	11	93,992,986 (GRCm39)	critical splice donor site	probably null
R7665:Spag9	UTSW	11	93,904,480 (GRCm39)	missense	probably damaging	0.98
R7862:Spag9	UTSW	11	94,002,892 (GRCm39)	missense	possibly damaging	0.69
R8074:Spag9	UTSW	11	94,002,877 (GRCm39)	missense	probably damaging	1.00
R8085:Spag9	UTSW	11	93,989,870 (GRCm39)	missense	probably benign
R8469:Spag9	UTSW	11	93,982,627 (GRCm39)	missense	probably damaging	1.00
R8547:Spag9	UTSW	11	94,013,647 (GRCm39)	missense	possibly damaging	0.84
R8709:Spag9	UTSW	11	93,958,916 (GRCm39)	missense	probably benign	0.02
R8732:Spag9	UTSW	11	93,962,514 (GRCm39)	critical splice donor site	probably null
R8899:Spag9	UTSW	11	93,983,695 (GRCm39)	missense	probably damaging	1.00
R8983:Spag9	UTSW	11	93,958,815 (GRCm39)	missense	probably benign
R9043:Spag9	UTSW	11	93,951,085 (GRCm39)	missense
R9050:Spag9	UTSW	11	93,935,294 (GRCm39)	missense	probably damaging	0.97
R9502:Spag9	UTSW	11	93,959,792 (GRCm39)	missense	probably damaging	1.00
R9575:Spag9	UTSW	11	93,962,409 (GRCm39)	missense	probably damaging	0.99
R9667:Spag9	UTSW	11	93,887,119 (GRCm39)	missense	possibly damaging	0.83
R9683:Spag9	UTSW	11	93,988,568 (GRCm39)	missense	probably damaging	1.00
R9774:Spag9	UTSW	11	94,005,062 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- ACCAGTAACCTCTTGCATCAG -3'
(R):5'- GAGAGGTTGCAAAATAACTTCATCC -3'

Sequencing Primer
(F):5'- CAGTAACCTCTTGCATCAGTACTAG -3'
(R):5'- CTCCTTTATAGAGCCTCCTTAG -3'

Posted On

2016-06-28