Incidental Mutation 'R7366:Spag9'
ID 571822
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 045450-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.737) question?
Stock # R7366 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 93886917-94016911 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 93999347 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 1088 (V1088L)
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: V950L

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000024979
Gene: ENSMUSG00000020859
AA Change: V950L

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000041956
AA Change: V1088L

PolyPhen 2 Score 0.562 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000042271
Gene: ENSMUSG00000020859
AA Change: V1088L

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000075695
AA Change: V949L

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000075115
Gene: ENSMUSG00000020859
AA Change: V949L

DomainStartEndE-ValueType
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: V950L

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000090452
Gene: ENSMUSG00000020859
AA Change: V950L

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000103168
AA Change: V945L

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099457
Gene: ENSMUSG00000020859
AA Change: V945L

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: V669L

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000117502
Gene: ENSMUSG00000020859
AA Change: V669L

DomainStartEndE-ValueType
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 0.1163 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.1%
Validation Efficiency 99% (94/95)
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik C T 8: 73,203,303 (GRCm39) P244S possibly damaging Het
4930562C15Rik A G 16: 4,653,633 (GRCm39) I61V unknown Het
Abcb11 C T 2: 69,130,211 (GRCm39) D282N probably damaging Het
Acbd3 A G 1: 180,562,064 (GRCm39) E181G probably benign Het
Ano3 T C 2: 110,587,412 (GRCm39) Y43C probably damaging Het
Aspa T A 11: 73,210,716 (GRCm39) probably null Het
AU018091 A T 7: 3,206,170 (GRCm39) N620K probably damaging Het
Bicc1 G T 10: 70,779,216 (GRCm39) T724K probably benign Het
Bmper T C 9: 23,395,300 (GRCm39) I677T probably damaging Het
C3 T A 17: 57,528,162 (GRCm39) T686S probably benign Het
Cc2d2a G T 5: 43,887,332 (GRCm39) R1315L probably damaging Het
Ccdc150 G T 1: 54,339,541 (GRCm39) E462* probably null Het
Ccdc88c C A 12: 100,911,209 (GRCm39) R875L possibly damaging Het
Cd177 C T 7: 24,456,147 (GRCm39) G207D probably damaging Het
Cdh23 A T 10: 60,151,471 (GRCm39) Y2471* probably null Het
Cep89 G A 7: 35,129,353 (GRCm39) R630H probably damaging Het
Cmbl A T 15: 31,590,002 (GRCm39) Y244F probably benign Het
Dcaf10 T C 4: 45,373,919 (GRCm39) V448A probably damaging Het
Ddr2 A G 1: 169,825,533 (GRCm39) W356R probably damaging Het
Depdc1a A G 3: 159,228,849 (GRCm39) I534V probably benign Het
Dhtkd1 T A 2: 5,922,717 (GRCm39) I481L probably benign Het
Dlst A T 12: 85,175,089 (GRCm39) I260L probably benign Het
Dnajc13 T G 9: 104,061,905 (GRCm39) K1350Q probably benign Het
Dpp4 T C 2: 62,184,943 (GRCm39) Y520C probably damaging Het
Dr1 C A 5: 108,423,594 (GRCm39) A127E unknown Het
Dsel C T 1: 111,789,303 (GRCm39) G411S probably damaging Het
E130308A19Rik T C 4: 59,752,770 (GRCm39) C628R probably damaging Het
Edem3 T A 1: 151,688,365 (GRCm39) probably null Het
Efcab15 T C 11: 103,098,944 (GRCm39) probably null Het
Fam20a T A 11: 109,564,168 (GRCm39) Q528H possibly damaging Het
Fanca T C 8: 124,007,952 (GRCm39) E981G probably benign Het
Fbp2 A G 13: 62,985,012 (GRCm39) V303A possibly damaging Het
Flii C T 11: 60,611,945 (GRCm39) V353M possibly damaging Het
Gm10277 T A 11: 77,676,584 (GRCm39) Y129F unknown Het
Gm3159 A T 14: 4,398,525 (GRCm38) H72L probably benign Het
Gm5114 T G 7: 39,058,768 (GRCm39) T284P possibly damaging Het
Gm7168 T C 17: 14,170,147 (GRCm39) S505P probably damaging Het
Gnal T C 18: 67,344,142 (GRCm39) V239A possibly damaging Het
Gtf2i C T 5: 134,294,603 (GRCm39) E370K probably damaging Het
Hivep3 CGG CG 4: 119,955,108 (GRCm39) 1141 probably null Het
Il3 T A 11: 54,156,709 (GRCm39) R93S probably benign Het
Itsn1 A G 16: 91,705,338 (GRCm39) E1573G unknown Het
Kif26a G A 12: 112,129,976 (GRCm39) probably null Het
Klb T C 5: 65,529,774 (GRCm39) M434T probably damaging Het
Lrp2 T A 2: 69,314,150 (GRCm39) R2194W probably damaging Het
Lrp6 G T 6: 134,427,781 (GRCm39) P1604T probably damaging Het
Mak16 A G 8: 31,656,127 (GRCm39) Y119H possibly damaging Het
Map3k19 T A 1: 127,745,192 (GRCm39) M1421L probably damaging Het
Mbd5 A G 2: 49,164,580 (GRCm39) I1186V probably benign Het
Mboat1 T A 13: 30,386,345 (GRCm39) C120S possibly damaging Het
Mctp2 T A 7: 71,908,962 (GRCm39) D117V probably benign Het
Mocos C A 18: 24,809,673 (GRCm39) N425K probably damaging Het
Nav2 A G 7: 49,203,951 (GRCm39) probably null Het
Ngfr A T 11: 95,465,255 (GRCm39) W198R possibly damaging Het
Nr4a3 T G 4: 48,051,290 (GRCm39) S15A possibly damaging Het
Obsl1 T C 1: 75,479,608 (GRCm39) S596G probably damaging Het
Or2ag1 G T 7: 106,472,603 (GRCm39) P283Q probably damaging Het
Or51g1 A T 7: 102,633,723 (GRCm39) I216K probably damaging Het
Or52e3 T G 7: 102,869,740 (GRCm39) Y272D probably benign Het
Or5v1b T A 17: 37,841,708 (GRCm39) V280D probably damaging Het
Or6b3 A G 1: 92,439,400 (GRCm39) S117P possibly damaging Het
Pithd1 T C 4: 135,714,361 (GRCm39) Y29C probably benign Het
Plcb3 T C 19: 6,939,389 (GRCm39) T530A probably benign Het
Prss40 A T 1: 34,598,952 (GRCm39) Y70* probably null Het
Ralgps1 T C 2: 33,214,700 (GRCm39) M61V possibly damaging Het
Rbp4 C T 19: 38,113,410 (GRCm39) R36H possibly damaging Het
Rnf125 A G 18: 21,107,490 (GRCm39) N7S not run Het
Rpe65 G A 3: 159,330,366 (GRCm39) S511N probably benign Het
Rspo4 A T 2: 151,709,793 (GRCm39) Y66F probably damaging Het
Ruvbl2 A G 7: 45,071,573 (GRCm39) S437P probably benign Het
Sele C A 1: 163,876,288 (GRCm39) R12S probably benign Het
Sgo2b T A 8: 64,391,451 (GRCm39) K139* probably null Het
Shroom3 C A 5: 93,112,465 (GRCm39) S1942* probably null Het
Slc12a9 G A 5: 137,326,885 (GRCm39) R191* probably null Het
Sptb T G 12: 76,650,968 (GRCm39) D1669A probably damaging Het
Sptlc2 A G 12: 87,360,823 (GRCm39) probably null Het
Sult2a8 A T 7: 14,150,254 (GRCm39) probably null Het
Synpo2 A G 3: 122,907,690 (GRCm39) V542A probably damaging Het
Tecpr2 T C 12: 110,881,914 (GRCm39) probably null Het
Tektip1 T C 10: 81,200,025 (GRCm39) D165G possibly damaging Het
Tenm2 T C 11: 35,960,241 (GRCm39) T1029A probably benign Het
Tgoln1 G C 6: 72,593,261 (GRCm39) T73R probably benign Het
Tnfaip8l1 C A 17: 56,478,897 (GRCm39) N62K probably damaging Het
Tollip A G 7: 141,443,334 (GRCm39) S174P probably benign Het
Trp53tg5 A G 2: 164,313,027 (GRCm39) I216T possibly damaging Het
Tssk5 A G 15: 76,258,713 (GRCm39) S58P probably benign Het
Ttc9b T C 7: 27,354,384 (GRCm39) Y157H probably damaging Het
Tuba8 A G 6: 121,199,871 (GRCm39) Y185C probably damaging Het
Ubr2 C T 17: 47,266,771 (GRCm39) A1127T probably damaging Het
Urb1 CACTTAC CAC 16: 90,569,461 (GRCm39) probably benign Het
Yipf3 T A 17: 46,559,855 (GRCm39) L57Q possibly damaging Het
Zbtb32 A C 7: 30,289,606 (GRCm39) C19G probably damaging Het
Zfp735 A T 11: 73,602,979 (GRCm39) H641L possibly damaging Het
Zfyve28 A T 5: 34,389,571 (GRCm39) Y210N probably damaging Het
Zpr1 T A 9: 46,184,671 (GRCm39) probably null Het
Other mutations in Spag9
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- CAGATTGTTGTGCAGATTAGCAG -3'
(R):5'- TGTAGTTGTAGACCATCTGCTC -3'

Sequencing Primer
(F):5'- AATGTTGGATCCCCTGGAAC -3'
(R):5'- GTGCCACAACACTGCATAAAC -3'
Posted On 2019-09-13