Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02417:Spag9'

292494

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02417

Quality Score

Status

Chromosome

Chromosomal Location

93886917-94016911 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 94007567 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 1224 (S1224G)

Ref Sequence

ENSEMBL: ENSMUSP00000042271 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000024979
AA Change: S1086G

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

SMART Domains

Protein: ENSMUSP00000024979
Gene: ENSMUSG00000020859
AA Change: S1086G

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
AA Change: S1224G

PolyPhen 2 Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000042271
Gene: ENSMUSG00000020859
AA Change: S1224G

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
AA Change: S1085G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000075115
Gene: ENSMUSG00000020859
AA Change: S1085G

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
AA Change: S1086G

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

SMART Domains

Protein: ENSMUSP00000090452
Gene: ENSMUSG00000020859
AA Change: S1086G

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
AA Change: S1081G

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

SMART Domains

Protein: ENSMUSP00000099457
Gene: ENSMUSG00000020859
AA Change: S1081G

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 benign
Transcript: ENSMUST00000153076
AA Change: S818G

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

SMART Domains

Protein: ENSMUSP00000117502
Gene: ENSMUSG00000020859
AA Change: S818G

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

Coding Region Coverage

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap5	T	A	12: 52,565,136 (GRCm39)	N702K	probably damaging	Het
Atm	T	C	9: 53,390,995 (GRCm39)	T1860A	probably benign	Het
Bicdl1	A	T	5: 115,811,217 (GRCm39)	H231Q	probably damaging	Het
C2cd5	A	C	6: 142,987,218 (GRCm39)	D470E	probably damaging	Het
Chd5	T	C	4: 152,451,751 (GRCm39)	F688L	probably damaging	Het
Cul3	T	C	1: 80,300,619 (GRCm39)	Y74C	probably damaging	Het
Dhx16	A	G	17: 36,203,429 (GRCm39)	E1042G	probably damaging	Het
Dnah11	A	G	12: 118,020,915 (GRCm39)	L1966P	probably damaging	Het
Dpy19l1	A	T	9: 24,386,682 (GRCm39)	I204N	possibly damaging	Het
Drd2	T	C	9: 49,313,559 (GRCm39)		probably benign	Het
Fasn	A	G	11: 120,711,166 (GRCm39)	V228A	probably damaging	Het
Fggy	T	C	4: 95,737,846 (GRCm39)	W148R	probably benign	Het
Gm9631	G	A	11: 121,834,478 (GRCm39)			Het
Gpr89	A	T	3: 96,804,741 (GRCm39)	Y38*	probably null	Het
H2-M1	G	A	17: 36,983,026 (GRCm39)	H22Y	possibly damaging	Het
Kdm3b	T	A	18: 34,941,630 (GRCm39)	S574T	probably benign	Het
Kmt2c	C	T	5: 25,578,018 (GRCm39)	V753I	probably benign	Het
Lcn9	T	C	2: 25,713,692 (GRCm39)	F73L	possibly damaging	Het
Lnpep	T	C	17: 17,765,165 (GRCm39)	T762A	possibly damaging	Het
Lrp2	C	T	2: 69,291,649 (GRCm39)	C3510Y	probably damaging	Het
Nlrp3	T	A	11: 59,456,849 (GRCm39)		probably benign	Het
Or14c39	A	G	7: 86,344,027 (GRCm39)	Y121C	probably damaging	Het
Or1j18	A	T	2: 36,624,356 (GRCm39)	I8F	probably benign	Het
Or5b3	A	G	19: 13,388,259 (GRCm39)	T109A	possibly damaging	Het
Pcnx3	A	T	19: 5,736,509 (GRCm39)	V176E	possibly damaging	Het
Phlpp1	T	C	1: 106,320,444 (GRCm39)	S1480P	probably benign	Het
Ppfia3	T	C	7: 44,991,141 (GRCm39)	R1027G	probably damaging	Het
Rnf216	A	G	5: 143,054,665 (GRCm39)	Y628H	possibly damaging	Het
Sh3bp1	G	A	15: 78,785,699 (GRCm39)	R4Q	probably damaging	Het
Skint9	A	G	4: 112,271,335 (GRCm39)		probably benign	Het
Slc25a51	A	G	4: 45,400,074 (GRCm39)	S39P	probably benign	Het
Smarca4	C	T	9: 21,612,386 (GRCm39)	R1558C	probably damaging	Het
Spdl1	G	T	11: 34,704,181 (GRCm39)	Q551K	probably benign	Het
Sugt1	A	G	14: 79,847,698 (GRCm39)	I183V	probably benign	Het
Th	G	A	7: 142,453,643 (GRCm39)	S19L	probably damaging	Het
Tmprss11g	A	G	5: 86,638,750 (GRCm39)	V246A	probably benign	Het
Tnfaip8l2	T	C	3: 95,047,714 (GRCm39)	T50A	probably benign	Het
Tox3	G	T	8: 90,984,759 (GRCm39)	T140K	possibly damaging	Het
Unc50	T	A	1: 37,476,531 (GRCm39)	Y205*	probably null	Het
Vmn2r83	A	T	10: 79,314,881 (GRCm39)	K376N	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
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
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

Posted On

2015-04-16