Incidental Mutation 'R9502:Spag9'
ID 717662
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
Accession Numbers
Essential gene? Probably essential (E-score: 0.785) question?
Stock # R9502 (G1)
Quality Score 223.009
Status Not validated
Chromosome 11
Chromosomal Location 93886917-94016911 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 93959792 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 327 (V327A)
Ref Sequence ENSEMBL: ENSMUSP00000042271 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024979] [ENSMUST00000041956] [ENSMUST00000075695] [ENSMUST00000092777] [ENSMUST00000103168] [ENSMUST00000132079]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000024979
AA Change: V184A

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000024979
Gene: ENSMUSG00000020859
AA Change: V184A

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 probably damaging
Transcript: ENSMUST00000041956
AA Change: V327A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000042271
Gene: ENSMUSG00000020859
AA Change: V327A

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 possibly damaging
Transcript: ENSMUST00000075695
AA Change: V184A

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000075115
Gene: ENSMUSG00000020859
AA Change: V184A

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 possibly damaging
Transcript: ENSMUST00000092777
AA Change: V184A

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000090452
Gene: ENSMUSG00000020859
AA Change: V184A

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 possibly damaging
Transcript: ENSMUST00000103168
AA Change: V184A

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099457
Gene: ENSMUSG00000020859
AA Change: V184A

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
AA Change: V184A

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000118850
Gene: ENSMUSG00000020859
AA Change: V184A

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
SMART Domains Protein: ENSMUSP00000115864
Gene: ENSMUSG00000020859
AA Change: V176A

DomainStartEndE-ValueType
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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019D03Rik T A 1: 52,964,662 (GRCm39) H22L possibly damaging Het
Abca2 C A 2: 25,326,895 (GRCm39) Y590* probably null Het
Acot1 G T 12: 84,061,353 (GRCm39) E220* probably null Het
Acsl5 T G 19: 55,271,744 (GRCm39) I292S probably benign Het
Acvr1b C T 15: 101,092,710 (GRCm39) H118Y probably benign Het
Aggf1 A G 13: 95,507,450 (GRCm39) C112R probably benign Het
Ap2a2 T A 7: 141,178,689 (GRCm39) N105K probably benign Het
Aste1 G A 9: 105,273,880 (GRCm39) C40Y probably benign Het
Carmil1 T C 13: 24,323,357 (GRCm39) T232A probably benign Het
Ccser2 A G 14: 36,631,090 (GRCm39) F649L probably benign Het
Cdcp3 T C 7: 130,836,815 (GRCm39) V419A possibly damaging Het
Cenpf G A 1: 189,388,978 (GRCm39) T1618I probably damaging Het
Ces5a G A 8: 94,262,308 (GRCm39) Q10* probably null Het
Cfap20dc A G 14: 8,659,452 (GRCm38) F48L probably damaging Het
Cfh A T 1: 140,040,320 (GRCm39) L592Q possibly damaging Het
Chchd6 T C 6: 89,396,763 (GRCm39) H216R probably damaging Het
Chrm5 A T 2: 112,311,040 (GRCm39) H25Q probably damaging Het
Clasp2 C T 9: 113,737,866 (GRCm39) T1080I probably benign Het
Clic6 G T 16: 92,295,588 (GRCm39) G83C probably damaging Het
Coro1c A T 5: 113,988,781 (GRCm39) S187R probably damaging Het
Cyp2a4 A G 7: 26,008,004 (GRCm39) D137G probably benign Het
Ddhd1 G T 14: 45,894,679 (GRCm39) Q264K possibly damaging Het
Dhdds A T 4: 133,707,497 (GRCm39) Y235N probably damaging Het
Ephb1 T C 9: 101,918,486 (GRCm39) E341G probably damaging Het
Fam53b T C 7: 132,361,740 (GRCm39) D96G probably benign Het
Fcgbpl1 A G 7: 27,836,891 (GRCm39) D270G probably benign Het
Fermt1 G T 2: 132,781,388 (GRCm39) R67S probably benign Het
Fmnl2 C A 2: 52,998,312 (GRCm39) P559H unknown Het
Foxo3 C T 10: 42,073,021 (GRCm39) V499M probably damaging Het
Frmpd2 T A 14: 33,227,404 (GRCm39) F261I probably benign Het
Garem2 T A 5: 30,321,750 (GRCm39) L703Q possibly damaging Het
Ggct T A 6: 54,962,872 (GRCm39) I180F possibly damaging Het
Gigyf2 T A 1: 87,331,446 (GRCm39) I198K unknown Het
Gucy2d T C 7: 98,107,942 (GRCm39) F700L probably benign Het
Gucy2g T A 19: 55,198,816 (GRCm39) I776F probably damaging Het
H2ac8 T C 13: 23,755,045 (GRCm39) I80V probably benign Het
Has1 T C 17: 18,063,971 (GRCm39) Y556C probably damaging Het
Hecw1 T C 13: 14,546,567 (GRCm39) I145V probably damaging Het
Helz2 T A 2: 180,878,245 (GRCm39) Y851F possibly damaging Het
Hes7 C A 11: 69,013,711 (GRCm39) P190Q probably benign Het
Hivep1 T C 13: 42,322,779 (GRCm39) C79R Het
Hnrnpr A G 4: 136,056,681 (GRCm39) D227G probably damaging Het
Hoxb9 C A 11: 96,162,544 (GRCm39) F59L probably benign Het
Hspb1 A T 5: 135,917,930 (GRCm39) H135L probably benign Het
Igkv1-122 T A 6: 67,994,348 (GRCm39) F79I probably benign Het
Igtp G C 11: 58,097,800 (GRCm39) V324L possibly damaging Het
Il18r1 G A 1: 40,528,852 (GRCm39) A299T probably benign Het
Kat14 C A 2: 144,235,527 (GRCm39) P329Q probably damaging Het
Krt33b T A 11: 99,917,315 (GRCm39) Q179L probably benign Het
Lrrk2 C T 15: 91,607,365 (GRCm39) A576V probably damaging Het
Map3k11 A G 19: 5,740,624 (GRCm39) E117G probably damaging Het
Mgme1 C T 2: 144,114,156 (GRCm39) A86V probably benign Het
Mks1 C A 11: 87,753,766 (GRCm39) A534E probably damaging Het
Mrpl28 T A 17: 26,343,594 (GRCm39) I118N probably damaging Het
Mrps22 T A 9: 98,480,219 (GRCm39) Y102F probably damaging Het
Myt1 A T 2: 181,461,991 (GRCm39) H1000L probably damaging Het
Ncoa5 A G 2: 164,854,802 (GRCm39) Y107H possibly damaging Het
Nipsnap3a A T 4: 52,994,039 (GRCm39) Y40F probably benign Het
Nlrc4 T A 17: 74,752,580 (GRCm39) Y601F probably benign Het
Obsl1 A G 1: 75,466,267 (GRCm39) L1487P probably damaging Het
Oit3 A T 10: 59,264,173 (GRCm39) N320K probably damaging Het
Or1e33 T C 11: 73,738,825 (GRCm39) N42S probably damaging Het
Or7a38 A G 10: 78,753,559 (GRCm39) N295S probably damaging Het
Otud4 T C 8: 80,400,480 (GRCm39) S1065P probably benign Het
P3h1 A C 4: 119,094,008 (GRCm39) E221A possibly damaging Het
Pgpep1 C A 8: 71,103,899 (GRCm39) A124S probably benign Het
Pigg T A 5: 108,495,782 (GRCm39) S940T Het
Proser3 G T 7: 30,245,587 (GRCm39) T139K possibly damaging Het
Prr36 C T 8: 4,264,775 (GRCm39) R297H unknown Het
Rai14 A T 15: 10,587,947 (GRCm39) F306I possibly damaging Het
Rnase13 T A 14: 52,159,825 (GRCm39) N105Y probably damaging Het
Ros1 A G 10: 52,000,174 (GRCm39) I1138T probably benign Het
Rsbn1 C A 3: 103,822,146 (GRCm39) T127K possibly damaging Het
Rsf1 G GCCGGCGGCC 7: 97,229,116 (GRCm39) probably benign Het
Rtca T C 3: 116,301,413 (GRCm39) T45A probably benign Het
Sema6b G T 17: 56,439,500 (GRCm39) D82E probably benign Het
Serpinc1 A T 1: 160,821,179 (GRCm39) K209* probably null Het
Slc4a1 C A 11: 102,247,674 (GRCm39) R403L probably damaging Het
Smtn A G 11: 3,482,780 (GRCm39) V92A possibly damaging Het
Spdl1 T C 11: 34,713,283 (GRCm39) N233S possibly damaging Het
Stimate A G 14: 30,593,463 (GRCm39) N189S probably damaging Het
Ston2 T C 12: 91,707,424 (GRCm39) D62G possibly damaging Het
Sult2a5 A G 7: 13,359,243 (GRCm39) D73G probably benign Het
Ticrr A G 7: 79,343,597 (GRCm39) E1154G probably benign Het
Tmem163 A T 1: 127,480,529 (GRCm39) M111K probably damaging Het
Tmem266 T C 9: 55,344,973 (GRCm39) V535A probably damaging Het
Tmprss7 T A 16: 45,484,555 (GRCm39) D535V probably damaging Het
Tmt1a T C 15: 100,203,215 (GRCm39) V163A probably damaging Het
Tpcn1 A C 5: 120,698,390 (GRCm39) I44S probably benign Het
Trbv12-1 T A 6: 41,090,921 (GRCm39) F98I probably damaging Het
Trhde A T 10: 114,636,697 (GRCm39) V170E probably damaging Het
Trpt1 A T 19: 6,975,578 (GRCm39) T111S probably benign Het
Ttc13 T C 8: 125,410,010 (GRCm39) T401A possibly damaging Het
Ulbp1 T C 10: 7,423,260 (GRCm39) I28V probably benign Het
Vldlr A T 19: 27,218,742 (GRCm39) D531V probably damaging Het
Vmn2r85 T A 10: 130,261,387 (GRCm39) T317S probably damaging Het
Vps33a T C 5: 123,696,705 (GRCm39) K316R probably benign Het
Vwa3b A G 1: 37,099,520 (GRCm39) N245S probably damaging Het
Zfp266 A T 9: 20,413,413 (GRCm39) C82* probably null Het
Zfp746 T C 6: 48,041,397 (GRCm39) K443R probably damaging 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
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
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'- AGTGTGTGACATTGTCTAACCTC -3'
(R):5'- TCCTGCCAGAAGAATGTCCTC -3'

Sequencing Primer
(F):5'- GTCTAACCTCATATTTCCTAGAACAC -3'
(R):5'- CTGTAGCACAACATGAACTG -3'
Posted On 2022-07-18