Incidental Mutation 'R7513:Spag9'
ID 582240
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 045586-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.737) question?
Stock # R7513 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 93886917-94016911 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 94002909 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1140 (S1140P)
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 damaging
Transcript: ENSMUST00000024979
AA Change: S1002P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000024979
Gene: ENSMUSG00000020859
AA Change: S1002P

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: S1140P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000042271
Gene: ENSMUSG00000020859
AA Change: S1140P

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: S1001P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000075115
Gene: ENSMUSG00000020859
AA Change: S1001P

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: S1002P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000090452
Gene: ENSMUSG00000020859
AA Change: S1002P

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: S997P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099457
Gene: ENSMUSG00000020859
AA Change: S997P

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 damaging
Transcript: ENSMUST00000153076
AA Change: S721P

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000117502
Gene: ENSMUSG00000020859
AA Change: S721P

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a G A 5: 8,765,771 (GRCm39) W694* probably null Het
Accs T C 2: 93,670,437 (GRCm39) N256S possibly damaging Het
Agmo C T 12: 37,294,352 (GRCm39) T100I probably benign Het
Alox8 T C 11: 69,078,670 (GRCm39) D341G probably benign Het
Apol7c T A 15: 77,409,911 (GRCm39) E345V possibly damaging Het
Arl5a A G 2: 52,302,157 (GRCm39) F86L possibly damaging Het
AU040320 A G 4: 126,686,057 (GRCm39) E211G probably benign Het
B020011L13Rik T A 1: 117,729,149 (GRCm39) C219S probably damaging Het
Btaf1 T A 19: 36,955,803 (GRCm39) L579Q probably benign Het
Cd84 T A 1: 171,712,185 (GRCm39) V267E probably benign Het
Cdcp3 G A 7: 130,873,800 (GRCm39) G1709R unknown Het
Clec11a T C 7: 43,955,780 (GRCm39) E89G probably benign Het
Csrnp2 C A 15: 100,380,297 (GRCm39) E331D probably benign Het
Cyp2d12 C A 15: 82,442,621 (GRCm39) H355N probably benign Het
Ddx24 C A 12: 103,385,365 (GRCm39) G413* probably null Het
Dhx38 G A 8: 110,287,221 (GRCm39) P249L probably benign Het
Dip2a A T 10: 76,149,069 (GRCm39) M233K probably benign Het
Dip2b T A 15: 100,105,629 (GRCm39) probably null Het
Dmbt1 T C 7: 130,692,242 (GRCm39) S1003P unknown Het
Dna2 A G 10: 62,807,747 (GRCm39) D1033G probably benign Het
Dnah5 T C 15: 28,370,561 (GRCm39) S2834P probably benign Het
Dnah7b T G 1: 46,163,506 (GRCm39) S437A probably benign Het
Eif5 A T 12: 111,506,686 (GRCm39) I93F probably damaging Het
Fbxo47 A G 11: 97,747,055 (GRCm39) F337S probably damaging Het
Helz T C 11: 107,546,941 (GRCm39) I1086T probably damaging Het
Ifi208 A T 1: 173,523,220 (GRCm39) R497* probably null Het
Igfn1 T G 1: 135,887,705 (GRCm39) D2453A probably damaging Het
Ighg2c A T 12: 113,252,471 (GRCm39) L27Q Het
Jak1 C T 4: 101,048,848 (GRCm39) C10Y probably damaging Het
Kif7 T A 7: 79,360,776 (GRCm39) N200Y possibly damaging Het
Ktn1 G C 14: 47,901,541 (GRCm39) A100P possibly damaging Het
Lrsam1 T C 2: 32,843,497 (GRCm39) D136G probably benign Het
Man2c1 T C 9: 57,046,683 (GRCm39) L648P probably benign Het
Mki67 T C 7: 135,294,952 (GRCm39) I3116V probably benign Het
Mmp10 A T 9: 7,508,128 (GRCm39) D418V probably damaging Het
Mrpl24 A T 3: 87,829,734 (GRCm39) T107S probably benign Het
Mycbpap T A 11: 94,394,382 (GRCm39) D296V probably damaging Het
Mycn C A 12: 12,989,743 (GRCm39) A218S probably benign Het
Myo1f G T 17: 33,794,788 (GRCm39) W9C probably damaging Het
Nckap1 T A 2: 80,332,635 (GRCm39) K1074N possibly damaging Het
Neb T C 2: 52,099,552 (GRCm39) D4766G possibly damaging Het
Nhsl1 T C 10: 18,399,700 (GRCm39) S275P probably damaging Het
Or2d3c A G 7: 106,526,483 (GRCm39) F61S possibly damaging Het
Or5k16 T A 16: 58,736,295 (GRCm39) K236N probably damaging Het
Pam G A 1: 97,780,910 (GRCm39) P514S possibly damaging Het
Pcdha4 C T 18: 37,086,392 (GRCm39) L192F probably damaging Het
Per1 T A 11: 68,996,397 (GRCm39) D800E probably benign Het
Plcg2 C A 8: 118,306,592 (GRCm39) N315K probably damaging Het
Plxnb2 T A 15: 89,042,525 (GRCm39) probably null Het
Pnpla1 A G 17: 29,077,781 (GRCm39) probably benign Het
Pptc7 A T 5: 122,446,192 (GRCm39) probably null Het
Psg26 G T 7: 18,209,225 (GRCm39) S394R probably benign Het
Psmc1 C A 12: 100,081,773 (GRCm39) T125K probably benign Het
Ptgis T A 2: 167,067,203 (GRCm39) M125L probably benign Het
Rbms1 A G 2: 60,589,165 (GRCm39) Y323H probably damaging Het
Rgl2 G A 17: 34,151,529 (GRCm39) R191Q probably benign Het
Sirpb1a G A 3: 15,476,503 (GRCm39) T98I possibly damaging Het
Sirpb1b C A 3: 15,607,200 (GRCm39) E361* probably null Het
Slc13a4 A T 6: 35,260,272 (GRCm39) probably null Het
Spata31e4 T A 13: 50,856,909 (GRCm39) I849N probably benign Het
Tas2r140 A G 6: 40,469,084 (GRCm39) N305D probably damaging Het
Tenm2 G A 11: 35,942,727 (GRCm39) A1314V probably benign Het
Tgm3 A G 2: 129,866,324 (GRCm39) T81A probably benign Het
Timeless T C 10: 128,085,399 (GRCm39) V839A probably damaging Het
Tmem132a A G 19: 10,837,492 (GRCm39) I606T probably damaging Het
Tox T A 4: 6,741,507 (GRCm39) M158L probably benign Het
Trpc2 A T 7: 101,739,275 (GRCm39) M549L probably damaging Het
Trpm5 C T 7: 142,635,572 (GRCm39) R600Q possibly damaging Het
Trpv1 A G 11: 73,131,367 (GRCm39) N302D probably damaging Het
Ttn C T 2: 76,681,940 (GRCm39) R1019H Het
Ttn G T 2: 76,775,307 (GRCm39) H1958N unknown Het
Usp32 A T 11: 84,917,938 (GRCm39) Y769* probably null Het
Vim A T 2: 13,583,443 (GRCm39) Q255L possibly damaging Het
Vmn1r84 T C 7: 12,095,994 (GRCm39) H233R probably benign Het
Xirp2 T A 2: 67,341,108 (GRCm39) H1116Q possibly damaging Het
Zc3h18 G T 8: 123,134,993 (GRCm39) R580L unknown Het
Zfp267 T A 3: 36,218,792 (GRCm39) F272I possibly damaging Het
Zfp442 A T 2: 150,250,676 (GRCm39) C409S unknown Het
Zfy1 A T Y: 759,852 (GRCm39) I20K unknown 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
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'- GATGAACATGGTGGTGCCTAC -3'
(R):5'- CAGCGTTGTCACAGATTTGC -3'

Sequencing Primer
(F):5'- AGTTCAGAGCCATTCTAGACGTC -3'
(R):5'- GCCAAAATCTAAACAATTCCTTTGG -3'
Posted On 2019-10-17