Incidental Mutation 'R5912:Spag9'
ID 461071
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 044109-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.737) question?
Stock # R5912 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 93886917-94016911 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 93935251 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 21 (N21D)
Ref Sequence ENSEMBL: ENSMUSP00000075115 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024979] [ENSMUST00000041956] [ENSMUST00000075695] [ENSMUST00000092777] [ENSMUST00000103168] [ENSMUST00000132079]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000024979
AA Change: N21D

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000024979
Gene: ENSMUSG00000020859
AA Change: N21D

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 benign
Transcript: ENSMUST00000041956
SMART Domains Protein: ENSMUSP00000042271
Gene: ENSMUSG00000020859

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: N21D

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000075115
Gene: ENSMUSG00000020859
AA Change: N21D

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: N21D

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000090452
Gene: ENSMUSG00000020859
AA Change: N21D

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: N21D

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000099457
Gene: ENSMUSG00000020859
AA Change: N21D

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 noncoding transcript
Transcript: ENSMUST00000127066
Predicted Effect possibly damaging
Transcript: ENSMUST00000132079
AA Change: N21D

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000118850
Gene: ENSMUSG00000020859
AA Change: N21D

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 noncoding transcript
Transcript: ENSMUST00000132605
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132772
Predicted Effect probably benign
Transcript: ENSMUST00000156019
SMART Domains Protein: ENSMUSP00000115864
Gene: ENSMUSG00000020859

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
Meta Mutation Damage Score 0.2194 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 100% (52/52)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik A T 15: 84,839,897 (GRCm39) C166S possibly damaging Het
Ahnak T A 19: 8,989,267 (GRCm39) M3517K probably damaging Het
Asap2 T C 12: 21,256,344 (GRCm39) V214A probably damaging Het
Atp13a4 A G 16: 29,275,389 (GRCm39) V365A probably benign Het
Bivm G T 1: 44,165,573 (GRCm39) G8* probably null Het
Cc2d2a A C 5: 43,877,772 (GRCm39) D1043A probably damaging Het
Cdh2 A C 18: 16,773,507 (GRCm39) I331S possibly damaging Het
Clip3 A C 7: 29,998,295 (GRCm39) D247A probably benign Het
Csf3r A T 4: 125,923,753 (GRCm39) I88F probably damaging Het
Cyp2j13 A T 4: 95,945,079 (GRCm39) N316K probably damaging Het
Dnah12 T A 14: 26,491,965 (GRCm39) C1133* probably null Het
Glud1 G A 14: 34,033,300 (GRCm39) probably null Het
Gm5805 A G 15: 81,857,018 (GRCm39) noncoding transcript Het
Gsg1l2 G T 11: 67,665,540 (GRCm39) probably null Het
Ikzf1 C A 11: 11,698,464 (GRCm39) S105* probably null Het
Kif18b A G 11: 102,803,817 (GRCm39) S448P probably benign Het
Klhl31 C A 9: 77,563,012 (GRCm39) N592K probably damaging Het
Kmt2c A G 5: 25,552,467 (GRCm39) F1239L possibly damaging Het
Lama5 A G 2: 179,837,268 (GRCm39) Y1014H probably damaging Het
Macf1 A C 4: 123,290,951 (GRCm39) L3980R probably damaging Het
Magi1 A T 6: 93,685,126 (GRCm39) S524T possibly damaging Het
Nlrp4f A T 13: 65,342,722 (GRCm39) Y308N probably damaging Het
Or1e33 A C 11: 73,738,501 (GRCm39) I150R possibly damaging Het
Or3a1c A T 11: 74,046,046 (GRCm39) E22V possibly damaging Het
Rfx5 G A 3: 94,866,029 (GRCm39) probably benign Het
Scn1b C T 7: 30,817,228 (GRCm39) V165M probably damaging Het
Sema4c A C 1: 36,593,469 (GRCm39) V41G possibly damaging Het
Serpini1 G T 3: 75,523,914 (GRCm39) G174V probably benign Het
Sh2b1 T C 7: 126,070,642 (GRCm39) E353G probably damaging Het
Slc7a6 G T 8: 106,906,289 (GRCm39) V174L probably benign Het
Smg1 A T 7: 117,753,809 (GRCm39) probably benign Het
Spdye4c C T 2: 128,437,994 (GRCm39) R245* probably null Het
Sulf1 A G 1: 12,856,976 (GRCm39) probably benign Het
Swt1 A G 1: 151,287,160 (GRCm39) S111P probably damaging Het
Syne2 G A 12: 75,955,721 (GRCm39) probably null Het
Tanc1 T C 2: 59,622,030 (GRCm39) V383A possibly damaging Het
Tbc1d10b G T 7: 126,799,033 (GRCm39) A491E probably damaging Het
Tek A G 4: 94,686,877 (GRCm39) T132A probably damaging Het
Traf3 A G 12: 111,221,783 (GRCm39) I290V probably benign Het
Traf5 A G 1: 191,730,030 (GRCm39) probably benign Het
Ttn A T 2: 76,640,687 (GRCm39) I13687N probably damaging Het
Unc5c A G 3: 141,494,767 (GRCm39) D415G probably damaging Het
Ust A G 10: 8,173,825 (GRCm39) Y227H probably benign Het
Vmn2r100 A G 17: 19,752,071 (GRCm39) N705D probably damaging Het
Wnk2 T C 13: 49,214,250 (GRCm39) E1444G probably damaging Het
Ylpm1 C T 12: 85,087,660 (GRCm39) P1148L probably damaging Het
Zbtb5 A G 4: 44,993,750 (GRCm39) S545P probably benign Het
Zfp710 A G 7: 79,731,222 (GRCm39) D133G probably benign Het
Zfp866 A T 8: 70,218,934 (GRCm39) C229S probably benign 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
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
Predicted Primers PCR Primer
(F):5'- ATGGAGTGGAAAGCTGCTGC -3'
(R):5'- GGTTACAAAGCAGACTCATGGTC -3'

Sequencing Primer
(F):5'- CTGCTGGCATTGTTTTTGTGGC -3'
(R):5'- AAGCAGACTCATGGTCCTAAG -3'
Posted On 2017-02-28