Mutagenetix > Incidental Mutation

Incidental Mutation 'R3766:Spag9'

473906

Institutional Source

Beutler Lab

Gene Symbol

Spag9

Ensembl Gene

ENSMUSG00000020859

Gene Name

sperm associated antigen 9

Synonyms

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

MMRRC Submission

040743-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.737) question?

Stock #

R3766 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

93886917-94016911 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 93951109 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118850 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024979] [ENSMUST00000041956] [ENSMUST00000075695] [ENSMUST00000092777] [ENSMUST00000103168] [ENSMUST00000132079]

AlphaFold

no structure available at present

Predicted Effect

probably benign
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 benign
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 benign
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 benign
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 benign
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

noncoding transcript
Transcript: ENSMUST00000127066

Predicted Effect

probably benign
Transcript: ENSMUST00000132079

SMART Domains

Protein: ENSMUSP00000118850
Gene: ENSMUSG00000020859

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
coiled coil region	360	394	N/A	INTRINSIC
low complexity region	523	539	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000156019
AA Change: K91R

SMART Domains

Protein: ENSMUSP00000115864
Gene: ENSMUSG00000020859
AA Change: K91R

Domain	Start	End	E-Value	Type
Pfam:JIP_LZII	240	310	1.1e-32	PFAM
coiled coil region	559	593	N/A	INTRINSIC
low complexity region	723	739	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

98% (41/42)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	C	T	5: 125,583,326 (GRCm39)	T294M	probably damaging	Het
Brf2	G	T	8: 27,614,496 (GRCm39)	T230N	possibly damaging	Het
Ccne2	A	G	4: 11,199,293 (GRCm39)		probably benign	Het
Crbn	T	C	6: 106,771,987 (GRCm39)	K106E	possibly damaging	Het
Cttnbp2nl	G	A	3: 104,912,117 (GRCm39)	T589I	probably benign	Het
Dock10	A	G	1: 80,514,643 (GRCm39)	S1091P	probably damaging	Het
Fh1	A	G	1: 175,442,316 (GRCm39)	V178A	probably damaging	Het
Fndc1	A	G	17: 8,003,253 (GRCm39)	S111P	probably damaging	Het
Frk	A	G	10: 34,360,001 (GRCm39)	M1V	probably null	Het
Gm29394	C	T	15: 57,912,024 (GRCm39)		probably benign	Het
Herc2	A	G	7: 55,813,572 (GRCm39)	D2601G	probably damaging	Het
Hspa13	T	C	16: 75,561,974 (GRCm39)	D75G	probably benign	Het
Itgav	T	C	2: 83,632,229 (GRCm39)		probably null	Het
Kif6	A	T	17: 50,065,671 (GRCm39)		probably benign	Het
Lypla1	G	A	1: 4,911,201 (GRCm39)	R104Q	probably benign	Het
Map1b	T	C	13: 99,570,595 (GRCm39)	K709E	unknown	Het
Or52l1	A	T	7: 104,830,088 (GRCm39)	I159K	probably damaging	Het
Or56b1b	G	A	7: 108,164,402 (GRCm39)	P200L	probably benign	Het
Pcdhb16	A	T	18: 37,611,249 (GRCm39)	K70*	probably null	Het
Pex5l	T	G	3: 33,061,327 (GRCm39)	D174A	probably benign	Het
Plac8l1	A	T	18: 42,313,460 (GRCm39)	M94K	probably benign	Het
Plxna1	T	C	6: 89,311,757 (GRCm39)		probably benign	Het
Psg26	T	C	7: 18,208,996 (GRCm39)	T471A	probably benign	Het
Pus3	C	A	9: 35,477,968 (GRCm39)	T400K	probably benign	Het
Pxk	T	C	14: 8,136,863 (GRCm38)		probably benign	Het
Rapgef2	T	C	3: 78,996,057 (GRCm39)	T569A	probably benign	Het
Sall4	T	C	2: 168,597,964 (GRCm39)	Q292R	possibly damaging	Het
Slc18b1	A	G	10: 23,674,647 (GRCm39)	D34G	probably damaging	Het
Slc45a1	T	C	4: 150,722,517 (GRCm39)	R456G	probably damaging	Het
Sox13	T	C	1: 133,318,536 (GRCm39)	R81G	possibly damaging	Het
Ston1	C	T	17: 88,942,788 (GRCm39)	P65S	probably damaging	Het
Tada2b	A	T	5: 36,633,761 (GRCm39)	D197E	probably benign	Het
Tcim	T	A	8: 24,928,765 (GRCm39)	R50W	probably damaging	Het
Tnpo3	T	C	6: 29,579,688 (GRCm39)	D235G	probably benign	Het
Trim59	A	G	3: 68,944,137 (GRCm39)	V401A	probably benign	Het
Trpm3	A	C	19: 22,425,741 (GRCm39)	Q32P	probably benign	Het
Tubgcp5	T	A	7: 55,480,614 (GRCm39)	M1018K	probably damaging	Het
Ube2o	A	G	11: 116,437,689 (GRCm39)		probably benign	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Uvrag	G	T	7: 98,537,350 (GRCm39)	S615*	probably null	Het
Vmn2r6	T	A	3: 64,463,929 (GRCm39)	I302L	probably benign	Het
Vmn2r73	C	T	7: 85,521,198 (GRCm39)	V257I	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
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
R4711:Spag9	UTSW	11	94,005,177 (GRCm39)	critical splice donor site	probably null
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

Posted On

2017-04-14