Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02095:Spag9'

279570

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spag9

Ensembl Gene

ENSMUSG00000020859

Gene Name

sperm associated antigen 9

Synonyms

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

Accession Numbers

Genbank: NM_027569; MGI: 1918084

Is this an essential gene?

Probably essential (E-score: 0.819) question?

Stock #

IGL02095

Quality Score

Status

Chromosome

Chromosomal Location

93996091-94126085 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 94108582 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 1108 (H1108L)

Ref Sequence

ENSEMBL: ENSMUSP00000042271 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024979] [ENSMUST00000041956] [ENSMUST00000075695] [ENSMUST00000092777] [ENSMUST00000103168] [ENSMUST00000132079] [ENSMUST00000153076]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000024979
AA Change: H970L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000024979
Gene: ENSMUSG00000020859
AA Change: H970L

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 damaging
Transcript: ENSMUST00000041956
AA Change: H1108L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000042271
Gene: ENSMUSG00000020859
AA Change: H1108L

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

possibly damaging
Transcript: ENSMUST00000075695
AA Change: H969L

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000075115
Gene: ENSMUSG00000020859
AA Change: H969L

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 damaging
Transcript: ENSMUST00000092777
AA Change: H970L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000090452
Gene: ENSMUSG00000020859
AA Change: H970L

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

possibly damaging
Transcript: ENSMUST00000103168
AA Change: H965L

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000099457
Gene: ENSMUSG00000020859
AA Change: H965L

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: 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

probably damaging
Transcript: ENSMUST00000153076
AA Change: H689L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000117502
Gene: ENSMUSG00000020859
AA Change: H689L

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,661,626	Q794L	probably benign	Het
Acrbp	C	A	6: 125,053,956	Y313*	probably null	Het
Adam9	A	G	8: 24,996,729	S178P	probably benign	Het
Adgrv1	T	C	13: 81,579,790	I244V	possibly damaging	Het
Atad5	A	G	11: 80,094,707	S207G	probably benign	Het
Atp10a	A	G	7: 58,807,393	D880G	probably damaging	Het
Cadps2	A	G	6: 23,427,310	I573T	probably benign	Het
Camsap3	A	G	8: 3,603,845	D494G	probably damaging	Het
Cbfa2t3	T	C	8: 122,633,493	E438G	probably damaging	Het
Cisd2	T	C	3: 135,411,219	D37G	possibly damaging	Het
Cndp2	T	C	18: 84,681,032	E36G	possibly damaging	Het
Ddx54	G	A	5: 120,623,791	G544D	possibly damaging	Het
Dok2	G	T	14: 70,777,861	G343W	possibly damaging	Het
Dscaml1	A	G	9: 45,447,703	N87D	probably damaging	Het
Ehf	T	C	2: 103,266,991	Y237C	probably damaging	Het
Exoc3	T	C	13: 74,180,536	T569A	probably damaging	Het
Fam151a	T	C	4: 106,747,875	V478A	probably damaging	Het
Fam227b	T	A	2: 126,101,004	H291L	probably damaging	Het
Fmn2	A	G	1: 174,502,601	T186A	unknown	Het
Ggnbp2	T	C	11: 84,833,128	Y660C	probably damaging	Het
Ggt5	G	A	10: 75,608,803	M318I	probably benign	Het
Gprc5d	A	G	6: 135,116,177	I244T	probably damaging	Het
Gucy2e	A	G	11: 69,232,787	S429P	possibly damaging	Het
Igf2r	T	C	17: 12,702,005	D1341G	probably damaging	Het
Kcnq4	T	C	4: 120,700,027		probably benign	Het
Krt40	T	C	11: 99,541,671	D173G	probably damaging	Het
Lrrc27	C	T	7: 139,230,253	T380I	probably benign	Het
Lrrc4c	A	G	2: 97,629,404	N125S	probably benign	Het
Mtor	C	T	4: 148,544,541	R2217C	probably damaging	Het
Nfrkb	C	T	9: 31,411,231	R866W	probably damaging	Het
Olfr1424	C	A	19: 12,059,549	V68F	probably benign	Het
Olfr982	T	A	9: 40,074,671	Y125*	probably null	Het
P2ry6	T	A	7: 100,938,864	D96V	probably damaging	Het
Pcdh18	A	T	3: 49,756,156	S237T	probably benign	Het
Pck2	G	A	14: 55,542,510	R72Q	probably benign	Het
Pik3c2a	C	T	7: 116,346,188	R1461Q	probably damaging	Het
Polr3a	A	G	14: 24,454,610	V1130A	possibly damaging	Het
Ppm1d	T	A	11: 85,327,006	D198E	probably benign	Het
Rasa1	T	A	13: 85,216,155	E1022D	probably benign	Het
Rbm25	T	C	12: 83,671,974	Y507H	probably damaging	Het
Rbm26	A	T	14: 105,144,260	I488K	probably damaging	Het
Ryr2	T	A	13: 11,759,759	E1170D	probably damaging	Het
Sdk2	T	G	11: 113,834,830	T1198P	probably damaging	Het
Sema3g	C	T	14: 31,227,824	T654I	probably benign	Het
Tcrg-C2	T	A	13: 19,307,410		probably benign	Het
Ubap2	T	C	4: 41,229,709	N142S	probably benign	Het
Usp33	T	C	3: 152,381,794	F699L	possibly damaging	Het
Ythdc2	A	G	18: 44,873,140		probably benign	Het

Other mutations in Spag9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00422:Spag9	APN	11	94097866	missense	probably benign	0.02
IGL01776:Spag9	APN	11	94116727	splice site	probably benign
IGL02307:Spag9	APN	11	94102160	critical splice donor site	probably null
IGL02417:Spag9	APN	11	94116741	missense	probably benign	0.27
IGL02480:Spag9	APN	11	94108587	nonsense	probably null
IGL02864:Spag9	APN	11	94106661	missense	probably damaging	1.00
IGL02976:Spag9	APN	11	94083953	missense	probably benign	0.30
IGL02979:Spag9	APN	11	94097364	missense	probably benign
IGL03349:Spag9	APN	11	94093509	missense	possibly damaging	0.51
dazzle	UTSW	11	94093624	nonsense	probably null
R0128:Spag9	UTSW	11	94093539	missense	probably damaging	1.00
R0418:Spag9	UTSW	11	94091753	splice site	probably benign
R1463:Spag9	UTSW	11	94116837	missense	probably damaging	1.00
R1593:Spag9	UTSW	11	94097233	missense	probably damaging	1.00
R1605:Spag9	UTSW	11	94048539	missense	probably damaging	0.99
R1649:Spag9	UTSW	11	94108452	splice site	probably null
R1697:Spag9	UTSW	11	93996565	missense	probably benign	0.00
R1952:Spag9	UTSW	11	94097358	missense	possibly damaging	0.77
R2011:Spag9	UTSW	11	94092375	nonsense	probably null
R2012:Spag9	UTSW	11	94092375	nonsense	probably null
R2351:Spag9	UTSW	11	94092900	missense	probably damaging	1.00
R2367:Spag9	UTSW	11	94116757	missense	probably damaging	1.00
R3027:Spag9	UTSW	11	94086377	missense	probably null	1.00
R3766:Spag9	UTSW	11	94060283	intron	probably benign
R3777:Spag9	UTSW	11	94099026	critical splice acceptor site	probably null
R3937:Spag9	UTSW	11	94044417	missense	possibly damaging	0.94
R3937:Spag9	UTSW	11	94044479	missense	possibly damaging	0.92
R4417:Spag9	UTSW	11	94060346	intron	probably benign
R4445:Spag9	UTSW	11	94097253	missense	possibly damaging	0.95
R4711:Spag9	UTSW	11	94114351	critical splice donor site	probably null
R4799:Spag9	UTSW	11	94048516	missense	possibly damaging	0.87
R4799:Spag9	UTSW	11	94048517	missense	probably damaging	0.96
R4816:Spag9	UTSW	11	94048599	intron	probably benign
R4843:Spag9	UTSW	11	94097818	missense	probably damaging	1.00
R5020:Spag9	UTSW	11	94097786	missense	probably benign	0.08
R5119:Spag9	UTSW	11	94122722	missense	probably damaging	1.00
R5298:Spag9	UTSW	11	94100135	missense	probably damaging	1.00
R5304:Spag9	UTSW	11	94069012	missense	probably damaging	1.00
R5305:Spag9	UTSW	11	94069012	missense	probably damaging	1.00
R5395:Spag9	UTSW	11	94091751	splice site	probably null
R5636:Spag9	UTSW	11	94069012	missense	probably damaging	1.00
R5638:Spag9	UTSW	11	94069012	missense	probably damaging	1.00
R5654:Spag9	UTSW	11	94090712	missense	probably damaging	1.00
R5779:Spag9	UTSW	11	94114253	missense	probably benign	0.20
R5814:Spag9	UTSW	11	94082828	missense	possibly damaging	0.94
R5912:Spag9	UTSW	11	94044425	missense	probably damaging	0.98
R6038:Spag9	UTSW	11	94112092	missense	probably damaging	1.00
R6038:Spag9	UTSW	11	94112092	missense	probably damaging	1.00
R6269:Spag9	UTSW	11	94044507	missense	probably benign	0.05
R6294:Spag9	UTSW	11	94093485	critical splice acceptor site	probably null
R6389:Spag9	UTSW	11	94086311	missense	probably damaging	1.00
R6420:Spag9	UTSW	11	94086302	missense	probably damaging	1.00
R6460:Spag9	UTSW	11	94068975	missense	probably damaging	1.00
R6482:Spag9	UTSW	11	94093502	missense	possibly damaging	0.94
R6860:Spag9	UTSW	11	94081370	missense	probably benign	0.25
R7086:Spag9	UTSW	11	94097864	missense	probably benign
R7179:Spag9	UTSW	11	94089432	splice site	probably null
R7225:Spag9	UTSW	11	94097358	missense	probably damaging	0.98
R7351:Spag9	UTSW	11	94092976	missense	probably benign	0.00
R7366:Spag9	UTSW	11	94108521	missense	possibly damaging	0.56
R7378:Spag9	UTSW	11	94114351	critical splice donor site	probably null
R7401:Spag9	UTSW	11	94097689	missense	probably benign
R7506:Spag9	UTSW	11	94108464	missense	probably damaging	1.00
R7507:Spag9	UTSW	11	94068080	missense	probably benign	0.00
R7513:Spag9	UTSW	11	94112083	missense	probably damaging	1.00
R7655:Spag9	UTSW	11	93996563	missense	possibly damaging	0.56
R7656:Spag9	UTSW	11	93996563	missense	possibly damaging	0.56
R7664:Spag9	UTSW	11	94102160	critical splice donor site	probably null
R7665:Spag9	UTSW	11	94013654	missense	probably damaging	0.98
R7862:Spag9	UTSW	11	94112066	missense	possibly damaging	0.69
R8074:Spag9	UTSW	11	94112051	missense	probably damaging	1.00
R8085:Spag9	UTSW	11	94099044	missense	probably benign
R8469:Spag9	UTSW	11	94091801	missense	probably damaging	1.00
R8547:Spag9	UTSW	11	94122821	missense	possibly damaging	0.84
R8709:Spag9	UTSW	11	94068090	missense	probably benign	0.02
R8732:Spag9	UTSW	11	94071688	critical splice donor site	probably null
R8899:Spag9	UTSW	11	94092869	missense	probably damaging	1.00
R8983:Spag9	UTSW	11	94067989	missense	probably benign
R9043:Spag9	UTSW	11	94060259	missense
R9050:Spag9	UTSW	11	94044468	missense	probably damaging	0.97
R9502:Spag9	UTSW	11	94068966	missense	probably damaging	1.00
R9575:Spag9	UTSW	11	94071583	missense	not run

Posted On

2015-04-16