Incidental Mutation 'R7225:Spag9'
ID 562108
Institutional Source Beutler Lab
Gene Symbol Spag9
Ensembl Gene ENSMUSG00000020859
Gene Name sperm associated antigen 9
Synonyms syd1, JIP4, Mapk8ip4, 4733401I23Rik, JLP, 3110018C07Rik, 4831406C20Rik
MMRRC Submission 045297-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.784) question?
Stock # R7225 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 93996091-94126085 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 94097358 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 833 (C833R)
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 possibly damaging
Transcript: ENSMUST00000024979
AA Change: C695R

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000024979
Gene: ENSMUSG00000020859
AA Change: C695R

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: C833R

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000042271
Gene: ENSMUSG00000020859
AA Change: C833R

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: C694R

PolyPhen 2 Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000075115
Gene: ENSMUSG00000020859
AA Change: C694R

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: C695R

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000090452
Gene: ENSMUSG00000020859
AA Change: C695R

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: C690R

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099457
Gene: ENSMUSG00000020859
AA Change: C690R

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: ENSMUST00000132079
AA Change: C483R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000118850
Gene: ENSMUSG00000020859
AA Change: C483R

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 possibly damaging
Transcript: ENSMUST00000153076
AA Change: C414R

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000117502
Gene: ENSMUSG00000020859
AA Change: C414R

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
Predicted Effect
SMART Domains Protein: ENSMUSP00000115864
Gene: ENSMUSG00000020859
AA Change: C682R

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 0.7482 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (62/63)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001K19Rik T C 12: 110,670,865 (GRCm38) probably benign Het
5730480H06Rik T A 5: 48,380,233 (GRCm38) probably null Het
Actn4 A T 7: 28,898,699 (GRCm38) V492D probably damaging Het
Alpk2 T C 18: 65,305,199 (GRCm38) E1041G probably benign Het
Asap1 G A 15: 64,130,250 (GRCm38) T404M probably damaging Het
Cd22 C T 7: 30,877,634 (GRCm38) A83T not run Het
Cdan1 T C 2: 120,724,912 (GRCm38) T783A probably benign Het
Cdh9 C T 15: 16,856,073 (GRCm38) S733F probably damaging Het
Cfap54 A G 10: 92,904,374 (GRCm38) F2282S unknown Het
Chst9 T C 18: 15,452,661 (GRCm38) K282E probably damaging Het
Clcn1 G A 6: 42,293,462 (GRCm38) D232N probably damaging Het
Clpb T A 7: 101,711,465 (GRCm38) L234Q probably damaging Het
Cluh T G 11: 74,666,406 (GRCm38) probably null Het
Cnp C T 11: 100,580,587 (GRCm38) Q352* probably null Het
Cyfip1 AGTGT AGT 7: 55,928,189 (GRCm38) probably null Het
Dtx3 C T 10: 127,191,489 (GRCm38) C272Y probably damaging Het
Dync2h1 A G 9: 7,142,756 (GRCm38) I1156T probably benign Het
Epg5 T A 18: 78,012,702 (GRCm38) V1697E probably benign Het
Exoc3l4 A G 12: 111,423,624 (GRCm38) D211G probably benign Het
Fank1 A G 7: 133,853,259 (GRCm38) K36R probably benign Het
Fat4 T C 3: 38,980,176 (GRCm38) I2659T possibly damaging Het
Fer1l5 T C 1: 36,420,952 (GRCm38) W1893R possibly damaging Het
Gorasp2 T A 2: 70,684,047 (GRCm38) L256Q probably damaging Het
Gpc5 T G 14: 115,552,298 (GRCm38) V528G probably damaging Het
Gria2 T A 3: 80,802,631 (GRCm38) probably benign Het
Htatip2 A G 7: 49,770,856 (GRCm38) E150G possibly damaging Het
Jak3 C A 8: 71,685,511 (GRCm38) Q869K probably benign Het
Jmjd1c T C 10: 67,226,065 (GRCm38) V1218A probably benign Het
Kcnf1 A G 12: 17,175,693 (GRCm38) C176R possibly damaging Het
Kcnq4 A G 4: 120,746,914 (GRCm38) V88A probably benign Het
Lmod3 T A 6: 97,247,384 (GRCm38) D492V probably benign Het
Lurap1l A C 4: 80,911,481 (GRCm38) S43R probably benign Het
Mamdc4 T C 2: 25,565,546 (GRCm38) H890R possibly damaging Het
Mertk T G 2: 128,801,562 (GRCm38) N960K possibly damaging Het
Nudt9 C A 5: 104,065,100 (GRCm38) D346E probably benign Het
Opa1 A G 16: 29,614,039 (GRCm38) probably null Het
Or5an1 A T 19: 12,283,467 (GRCm38) T140S probably benign Het
Oxr1 C T 15: 41,813,608 (GRCm38) P187L not run Het
Paxbp1 T C 16: 91,027,068 (GRCm38) E564G probably damaging Het
Pcdhb13 C T 18: 37,444,437 (GRCm38) R623C possibly damaging Het
Pkhd1l1 G T 15: 44,546,941 (GRCm38) V2615F probably damaging Het
Plin3 T C 17: 56,286,541 (GRCm38) T58A possibly damaging Het
Por A G 5: 135,732,587 (GRCm38) D309G probably benign Het
Ppp2r5e T C 12: 75,468,579 (GRCm38) K261R probably damaging Het
Ptpn18 C T 1: 34,472,846 (GRCm38) T366I possibly damaging Het
Ptprz1 G A 6: 23,000,929 (GRCm38) G1006E possibly damaging Het
Rnf219 T C 14: 104,479,858 (GRCm38) T360A probably benign Het
Rpl12 C T 2: 32,961,897 (GRCm38) probably benign Het
Rpsa T G 9: 120,131,156 (GRCm38) F262V probably benign Het
Sh3pxd2a G T 19: 47,267,389 (GRCm38) N991K probably damaging Het
Shank2 T A 7: 144,285,025 (GRCm38) N19K probably benign Het
Sik1 T C 17: 31,854,300 (GRCm38) T61A probably benign Het
Sipa1l3 A C 7: 29,399,428 (GRCm38) V472G probably damaging Het
Sirt6 A G 10: 81,622,481 (GRCm38) S313P probably benign Het
Slc12a7 A G 13: 73,763,962 (GRCm38) probably benign Het
Sox13 A T 1: 133,387,124 (GRCm38) V266E probably benign Het
Tcof1 T C 18: 60,828,448 (GRCm38) T812A unknown Het
Tnfsf4 A G 1: 161,417,250 (GRCm38) D170G possibly damaging Het
Tshz3 A G 7: 36,769,657 (GRCm38) N357S probably damaging Het
Txk C T 5: 72,700,714 (GRCm38) D418N probably damaging Het
Ube2j2 A G 4: 155,949,316 (GRCm38) probably null Het
Vmn2r84 G A 10: 130,386,683 (GRCm38) P556L probably damaging Het
Zfp1007 T C 5: 109,677,149 (GRCm38) H145R possibly damaging Het
Zfp442 T C 2: 150,409,005 (GRCm38) N326D probably benign Het
Other mutations in Spag9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00422:Spag9 APN 11 94,097,866 (GRCm38) missense probably benign 0.02
IGL01776:Spag9 APN 11 94,116,727 (GRCm38) splice site probably benign
IGL02095:Spag9 APN 11 94,108,582 (GRCm38) missense probably damaging 1.00
IGL02307:Spag9 APN 11 94,102,160 (GRCm38) critical splice donor site probably null
IGL02417:Spag9 APN 11 94,116,741 (GRCm38) missense probably benign 0.27
IGL02480:Spag9 APN 11 94,108,587 (GRCm38) nonsense probably null
IGL02864:Spag9 APN 11 94,106,661 (GRCm38) missense probably damaging 1.00
IGL02976:Spag9 APN 11 94,083,953 (GRCm38) missense probably benign 0.30
IGL02979:Spag9 APN 11 94,097,364 (GRCm38) missense probably benign
IGL03349:Spag9 APN 11 94,093,509 (GRCm38) missense possibly damaging 0.51
dazzle UTSW 11 94,093,624 (GRCm38) nonsense probably null
R0128:Spag9 UTSW 11 94,093,539 (GRCm38) missense probably damaging 1.00
R0418:Spag9 UTSW 11 94,091,753 (GRCm38) splice site probably benign
R1463:Spag9 UTSW 11 94,116,837 (GRCm38) missense probably damaging 1.00
R1593:Spag9 UTSW 11 94,097,233 (GRCm38) missense probably damaging 1.00
R1605:Spag9 UTSW 11 94,048,539 (GRCm38) missense probably damaging 0.99
R1649:Spag9 UTSW 11 94,108,452 (GRCm38) splice site probably null
R1697:Spag9 UTSW 11 93,996,565 (GRCm38) missense probably benign 0.00
R1952:Spag9 UTSW 11 94,097,358 (GRCm38) missense possibly damaging 0.77
R2011:Spag9 UTSW 11 94,092,375 (GRCm38) nonsense probably null
R2012:Spag9 UTSW 11 94,092,375 (GRCm38) nonsense probably null
R2351:Spag9 UTSW 11 94,092,900 (GRCm38) missense probably damaging 1.00
R2367:Spag9 UTSW 11 94,116,757 (GRCm38) missense probably damaging 1.00
R3027:Spag9 UTSW 11 94,086,377 (GRCm38) missense probably null 1.00
R3766:Spag9 UTSW 11 94,060,283 (GRCm38) intron probably benign
R3777:Spag9 UTSW 11 94,099,026 (GRCm38) critical splice acceptor site probably null
R3937:Spag9 UTSW 11 94,044,479 (GRCm38) missense possibly damaging 0.92
R3937:Spag9 UTSW 11 94,044,417 (GRCm38) missense possibly damaging 0.94
R4417:Spag9 UTSW 11 94,060,346 (GRCm38) intron probably benign
R4445:Spag9 UTSW 11 94,097,253 (GRCm38) missense possibly damaging 0.95
R4711:Spag9 UTSW 11 94,114,351 (GRCm38) critical splice donor site probably null
R4799:Spag9 UTSW 11 94,048,517 (GRCm38) missense probably damaging 0.96
R4799:Spag9 UTSW 11 94,048,516 (GRCm38) missense possibly damaging 0.87
R4816:Spag9 UTSW 11 94,048,599 (GRCm38) intron probably benign
R4843:Spag9 UTSW 11 94,097,818 (GRCm38) missense probably damaging 1.00
R5020:Spag9 UTSW 11 94,097,786 (GRCm38) missense probably benign 0.08
R5119:Spag9 UTSW 11 94,122,722 (GRCm38) missense probably damaging 1.00
R5298:Spag9 UTSW 11 94,100,135 (GRCm38) missense probably damaging 1.00
R5304:Spag9 UTSW 11 94,069,012 (GRCm38) missense probably damaging 1.00
R5305:Spag9 UTSW 11 94,069,012 (GRCm38) missense probably damaging 1.00
R5395:Spag9 UTSW 11 94,091,751 (GRCm38) splice site probably null
R5636:Spag9 UTSW 11 94,069,012 (GRCm38) missense probably damaging 1.00
R5638:Spag9 UTSW 11 94,069,012 (GRCm38) missense probably damaging 1.00
R5654:Spag9 UTSW 11 94,090,712 (GRCm38) missense probably damaging 1.00
R5779:Spag9 UTSW 11 94,114,253 (GRCm38) missense probably benign 0.20
R5814:Spag9 UTSW 11 94,082,828 (GRCm38) missense possibly damaging 0.94
R5912:Spag9 UTSW 11 94,044,425 (GRCm38) missense probably damaging 0.98
R6038:Spag9 UTSW 11 94,112,092 (GRCm38) missense probably damaging 1.00
R6038:Spag9 UTSW 11 94,112,092 (GRCm38) missense probably damaging 1.00
R6269:Spag9 UTSW 11 94,044,507 (GRCm38) missense probably benign 0.05
R6294:Spag9 UTSW 11 94,093,485 (GRCm38) critical splice acceptor site probably null
R6389:Spag9 UTSW 11 94,086,311 (GRCm38) missense probably damaging 1.00
R6420:Spag9 UTSW 11 94,086,302 (GRCm38) missense probably damaging 1.00
R6460:Spag9 UTSW 11 94,068,975 (GRCm38) missense probably damaging 1.00
R6482:Spag9 UTSW 11 94,093,502 (GRCm38) missense possibly damaging 0.94
R6860:Spag9 UTSW 11 94,081,370 (GRCm38) missense probably benign 0.25
R7086:Spag9 UTSW 11 94,097,864 (GRCm38) missense probably benign
R7179:Spag9 UTSW 11 94,089,432 (GRCm38) splice site probably null
R7351:Spag9 UTSW 11 94,092,976 (GRCm38) missense probably benign 0.00
R7366:Spag9 UTSW 11 94,108,521 (GRCm38) missense possibly damaging 0.56
R7378:Spag9 UTSW 11 94,114,351 (GRCm38) critical splice donor site probably null
R7401:Spag9 UTSW 11 94,097,689 (GRCm38) missense probably benign
R7506:Spag9 UTSW 11 94,108,464 (GRCm38) missense probably damaging 1.00
R7507:Spag9 UTSW 11 94,068,080 (GRCm38) missense probably benign 0.00
R7513:Spag9 UTSW 11 94,112,083 (GRCm38) missense probably damaging 1.00
R7655:Spag9 UTSW 11 93,996,563 (GRCm38) missense possibly damaging 0.56
R7656:Spag9 UTSW 11 93,996,563 (GRCm38) missense possibly damaging 0.56
R7664:Spag9 UTSW 11 94,102,160 (GRCm38) critical splice donor site probably null
R7665:Spag9 UTSW 11 94,013,654 (GRCm38) missense probably damaging 0.98
R7862:Spag9 UTSW 11 94,112,066 (GRCm38) missense possibly damaging 0.69
R8074:Spag9 UTSW 11 94,112,051 (GRCm38) missense probably damaging 1.00
R8085:Spag9 UTSW 11 94,099,044 (GRCm38) missense probably benign
R8469:Spag9 UTSW 11 94,091,801 (GRCm38) missense probably damaging 1.00
R8547:Spag9 UTSW 11 94,122,821 (GRCm38) missense possibly damaging 0.84
R8709:Spag9 UTSW 11 94,068,090 (GRCm38) missense probably benign 0.02
R8732:Spag9 UTSW 11 94,071,688 (GRCm38) critical splice donor site probably null
R8899:Spag9 UTSW 11 94,092,869 (GRCm38) missense probably damaging 1.00
R8983:Spag9 UTSW 11 94,067,989 (GRCm38) missense probably benign
R9043:Spag9 UTSW 11 94,060,259 (GRCm38) missense
R9050:Spag9 UTSW 11 94,044,468 (GRCm38) missense probably damaging 0.97
R9502:Spag9 UTSW 11 94,068,966 (GRCm38) missense probably damaging 1.00
R9575:Spag9 UTSW 11 94,071,583 (GRCm38) missense probably damaging 0.99
R9667:Spag9 UTSW 11 93,996,293 (GRCm38) missense possibly damaging 0.83
R9683:Spag9 UTSW 11 94,097,742 (GRCm38) missense probably damaging 1.00
R9774:Spag9 UTSW 11 94,114,236 (GRCm38) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- GCTTGTTTACTGGGTATTCCAAC -3'
(R):5'- TAACATGGGCACTACAGCATC -3'

Sequencing Primer
(F):5'- GTTTACTGGGTATTCCAACAAAGTTG -3'
(R):5'- ATGGGCACTACAGCATCTTCTTC -3'
Posted On 2019-06-26