Incidental Mutation 'R9667:Spag9'
ID 727875
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? Possibly essential (E-score: 0.737) question?
Stock # R9667 (G1)
Quality Score 106.008
Status Not validated
Chromosome 11
Chromosomal Location 93886917-94016911 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 93887119 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 8 (V8A)
Ref Sequence ENSEMBL: ENSMUSP00000042271 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041956]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000041956
AA Change: V8A

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000042271
Gene: ENSMUSG00000020859
AA Change: V8A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik G A 9: 55,890,645 (GRCm39) Q355* probably null Het
Aacs A T 5: 125,580,691 (GRCm39) N255I possibly damaging Het
Abcf2 A G 5: 24,779,185 (GRCm39) L121P probably damaging Het
Amigo1 A G 3: 108,095,034 (GRCm39) I178V probably benign Het
Ankrd13a T A 5: 114,933,793 (GRCm39) N262K probably damaging Het
Apba2 A G 7: 64,345,062 (GRCm39) E84G possibly damaging Het
Arhgap35 A T 7: 16,296,914 (GRCm39) L717* probably null Het
Aspa A T 11: 73,199,625 (GRCm39) C217* probably null Het
Atp5mc3 A G 2: 73,739,567 (GRCm39) I91T probably damaging Het
Birc6 T C 17: 75,004,420 (GRCm39) M4763T possibly damaging Het
Cc2d2b A G 19: 40,753,927 (GRCm39) Y150C unknown Het
Ccdc180 C T 4: 45,920,861 (GRCm39) Q936* probably null Het
Cdc42bpg A G 19: 6,370,115 (GRCm39) E1103G probably benign Het
Cdca2 T C 14: 67,915,003 (GRCm39) Q752R probably benign Het
Ces1b A T 8: 93,791,637 (GRCm39) S321T probably benign Het
Cfap70 A T 14: 20,490,690 (GRCm39) probably null Het
Cpox C T 16: 58,490,984 (GRCm39) T65I possibly damaging Het
Crocc C T 4: 140,748,988 (GRCm39) E1606K probably damaging Het
Cryzl2 T G 1: 157,316,038 (GRCm39) M337R probably benign Het
Cyp4a29 C A 4: 115,111,630 (GRCm39) A469D probably damaging Het
Dnaaf1 T A 8: 120,306,043 (GRCm39) Y107N possibly damaging Het
Dpp6 T A 5: 27,930,604 (GRCm39) I812N probably damaging Het
Elovl5 A G 9: 77,889,947 (GRCm39) T253A possibly damaging Het
Fancd2 T A 6: 113,530,717 (GRCm39) L450* probably null Het
Fbxo31 C T 8: 122,305,208 (GRCm39) R96H probably damaging Het
Gls A T 1: 52,230,036 (GRCm39) probably null Het
Gm3045 G A 13: 56,577,253 (GRCm39) E134K possibly damaging Het
Gpr158 A G 2: 21,830,054 (GRCm39) I700V probably damaging Het
H2-Aa T C 17: 34,502,295 (GRCm39) I209V probably benign Het
Ifnar2 A G 16: 91,184,984 (GRCm39) D125G probably benign Het
Igsf8 C A 1: 172,145,319 (GRCm39) D278E possibly damaging Het
Inpp5d T C 1: 87,623,128 (GRCm39) I407T probably damaging Het
Iqcd A G 5: 120,744,737 (GRCm39) E355G probably damaging Het
Klra2 T A 6: 131,219,836 (GRCm39) D115V probably benign Het
Kmt2b T C 7: 30,287,784 (GRCm39) E120G unknown Het
Lhx6 A G 2: 35,980,979 (GRCm39) I321T possibly damaging Het
Lmna CAGCACGGTGCGTGAGC CAGC 3: 88,389,857 (GRCm39) probably null Het
Lztr1 T C 16: 17,327,000 (GRCm39) Y37H probably damaging Het
Malrd1 A T 2: 15,570,026 (GRCm39) probably null Het
Mtmr3 C T 11: 4,470,890 (GRCm39) V79I probably damaging Het
Nbr1 A G 11: 101,451,261 (GRCm39) I56M possibly damaging Het
Ncor2 C T 5: 125,125,545 (GRCm39) A580T unknown Het
Ndst3 A G 3: 123,353,866 (GRCm39) I601T possibly damaging Het
Nectin4 C A 1: 171,210,165 (GRCm39) P219Q probably damaging Het
Nfatc4 T C 14: 56,066,964 (GRCm39) V501A probably benign Het
Nisch T C 14: 30,895,646 (GRCm39) T1015A probably damaging Het
Nr2c1 T C 10: 94,017,479 (GRCm39) probably null Het
Nrg2 T C 18: 36,165,430 (GRCm39) E394G probably benign Het
Oas1e A G 5: 120,932,347 (GRCm39) F99L probably benign Het
Oaz3 A T 3: 94,341,835 (GRCm39) Y178* probably null Het
Or1e35 A G 11: 73,798,097 (GRCm39) S74P possibly damaging Het
Or6c69b A C 10: 129,627,022 (GRCm39) S145R probably damaging Het
Pcdhb20 C T 18: 37,637,839 (GRCm39) H122Y probably benign Het
Pdcd2 T A 17: 15,747,535 (GRCm39) M1L probably damaging Het
Phf11 T C 14: 59,482,240 (GRCm39) N171S probably benign Het
Plcd1 C A 9: 118,901,698 (GRCm39) G609W probably damaging Het
Plscr3 T C 11: 69,738,631 (GRCm39) F98L probably benign Het
Ppp1r8 T C 4: 132,570,407 (GRCm39) N6S probably benign Het
Prpf38b G A 3: 108,818,859 (GRCm39) probably benign Het
Rin2 T A 2: 145,702,202 (GRCm39) N299K possibly damaging Het
Serpina1d T G 12: 103,734,299 (GRCm39) T2P probably benign Het
Slc22a16 A G 10: 40,461,125 (GRCm39) D330G probably benign Het
Slit1 G A 19: 41,731,832 (GRCm39) Q6* probably null Het
Spaca7b T A 8: 11,705,681 (GRCm39) E142V probably benign Het
Spsb3 C T 17: 25,105,784 (GRCm39) T44I unknown Het
Srrt T C 5: 137,295,732 (GRCm39) Y563C probably damaging Het
Syne2 A G 12: 75,926,951 (GRCm39) D69G probably damaging Het
Tcf12 A G 9: 71,792,443 (GRCm39) V80A probably benign Het
Tdpoz3 G A 3: 93,733,336 (GRCm39) D4N possibly damaging Het
Tekt2 C T 4: 126,217,444 (GRCm39) R207H probably damaging Het
Tmem132d G A 5: 128,061,375 (GRCm39) T409I possibly damaging Het
Tmem245 G T 4: 56,947,119 (GRCm39) T98K probably damaging Het
Tmem70 A C 1: 16,735,659 (GRCm39) E43A probably benign Het
Trim25 A T 11: 88,907,188 (GRCm39) I516F probably damaging Het
Trim3 G A 7: 105,267,455 (GRCm39) S308L possibly damaging Het
Ttll9 C T 2: 152,831,989 (GRCm39) R189* probably null Het
Ttpal T C 2: 163,449,596 (GRCm39) probably null Het
Ubl4b A T 3: 107,461,911 (GRCm39) H116Q probably benign Het
Unc80 C A 1: 66,651,287 (GRCm39) T1544K possibly damaging Het
Usp2 T C 9: 44,003,487 (GRCm39) probably null Het
Usp25 T C 16: 76,874,123 (GRCm39) probably null Het
Vmn1r167 C T 7: 23,204,990 (GRCm39) V9I probably benign Het
Vmn2r87 A G 10: 130,314,776 (GRCm39) I270T probably damaging Het
Vps35l G A 7: 118,348,915 (GRCm39) probably null Het
Wdr24 A G 17: 26,046,301 (GRCm39) D515G possibly damaging Het
Wdr81 T C 11: 75,341,650 (GRCm39) T87A Het
Zcchc14 A T 8: 122,331,863 (GRCm39) L500Q unknown Het
Zzef1 A G 11: 72,758,786 (GRCm39) T1242A 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
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
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
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'- GTTGTCAGTCTTCAGAGCCC -3'
(R):5'- AACACCGAGTCCAGGTTCTC -3'

Sequencing Primer
(F):5'- GGTGTTGGCGTCACAGC -3'
(R):5'- AGTCCAGGTTCTCCAGCAC -3'
Posted On 2022-10-06