Incidental Mutation 'R1817:Spef2'
ID 204535
Institutional Source Beutler Lab
Gene Symbol Spef2
Ensembl Gene ENSMUSG00000072663
Gene Name sperm flagellar 2
Synonyms C230086A09Rik
MMRRC Submission 039845-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R1817 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 9578279-9748954 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 9584194 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 1624 (E1624K)
Gene Model predicted gene model for transcript(s): [ENSMUST00000160236]
AlphaFold Q8C9J3
Predicted Effect probably damaging
Transcript: ENSMUST00000159288
AA Change: E1624K

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000125336
Gene: ENSMUSG00000072663
AA Change: E1624K

DomainStartEndE-ValueType
Pfam:CH_2 5 102 3.1e-25 PFAM
low complexity region 106 115 N/A INTRINSIC
low complexity region 137 148 N/A INTRINSIC
low complexity region 151 163 N/A INTRINSIC
coiled coil region 171 203 N/A INTRINSIC
low complexity region 247 256 N/A INTRINSIC
coiled coil region 312 345 N/A INTRINSIC
Pfam:ADK 602 789 8.8e-11 PFAM
low complexity region 819 855 N/A INTRINSIC
low complexity region 899 907 N/A INTRINSIC
low complexity region 1201 1221 N/A INTRINSIC
low complexity region 1264 1278 N/A INTRINSIC
low complexity region 1359 1369 N/A INTRINSIC
SCOP:d1rec__ 1378 1530 3e-3 SMART
low complexity region 1605 1624 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000160236
AA Change: E1614K

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000124222
Gene: ENSMUSG00000072663
AA Change: E1614K

DomainStartEndE-ValueType
Pfam:DUF1042 5 160 4.6e-59 PFAM
coiled coil region 171 203 N/A INTRINSIC
low complexity region 247 256 N/A INTRINSIC
coiled coil region 312 345 N/A INTRINSIC
Pfam:ADK 600 787 3.7e-10 PFAM
low complexity region 819 855 N/A INTRINSIC
low complexity region 899 907 N/A INTRINSIC
low complexity region 1201 1225 N/A INTRINSIC
low complexity region 1254 1268 N/A INTRINSIC
low complexity region 1349 1359 N/A INTRINSIC
SCOP:d1rec__ 1368 1520 3e-3 SMART
low complexity region 1595 1614 N/A INTRINSIC
Meta Mutation Damage Score 0.2889 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.9%
  • 10x: 95.2%
  • 20x: 91.9%
Validation Efficiency 95% (90/95)
MGI Phenotype PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit male infertility due to oligospermia and abnormal spermatogenesis, hydroencephaly, sinusitis, and background-dependent lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A T 11: 110,110,144 (GRCm39) S600T probably benign Het
Acly T A 11: 100,386,717 (GRCm39) Q615L probably benign Het
Adgrf1 C A 17: 43,620,924 (GRCm39) T387K probably benign Het
Afg3l1 G T 8: 124,228,670 (GRCm39) K745N probably damaging Het
Armc8 T C 9: 99,418,312 (GRCm39) T39A possibly damaging Het
Atm C A 9: 53,403,533 (GRCm39) probably benign Het
Babam2 A G 5: 32,214,890 (GRCm39) T324A probably damaging Het
Btd C A 14: 31,384,246 (GRCm39) D77E possibly damaging Het
Cadm1 T A 9: 47,740,668 (GRCm39) probably benign Het
Card11 A T 5: 140,871,315 (GRCm39) D729E probably benign Het
Ccni G T 5: 93,335,967 (GRCm39) T144K possibly damaging Het
Ceacam23 C T 7: 17,607,255 (GRCm39) noncoding transcript Het
Cecr2 A G 6: 120,708,228 (GRCm39) T77A probably damaging Het
Cgas A G 9: 78,341,593 (GRCm39) probably null Het
Cpsf7 T C 19: 10,512,803 (GRCm39) F296L possibly damaging Het
Cyfip1 C A 7: 55,523,196 (GRCm39) N70K possibly damaging Het
Cyp4a12b A G 4: 115,271,259 (GRCm39) probably benign Het
Ddx20 A T 3: 105,585,896 (GRCm39) Y816* probably null Het
Ddx59 A G 1: 136,360,245 (GRCm39) I420V probably damaging Het
Dgat1 T A 15: 76,386,703 (GRCm39) M445L probably damaging Het
Dnah5 T A 15: 28,246,546 (GRCm39) L628* probably null Het
Dnah7a A C 1: 53,598,307 (GRCm39) D1409E probably benign Het
Dnmt1 T C 9: 20,838,422 (GRCm39) T215A probably benign Het
Dsg4 C T 18: 20,604,302 (GRCm39) T923M probably damaging Het
Enox1 A G 14: 77,852,915 (GRCm39) I394V possibly damaging Het
Esrp2 A T 8: 106,861,250 (GRCm39) M183K probably damaging Het
Fam171a1 C T 2: 3,179,410 (GRCm39) P79S probably benign Het
Fga A G 3: 82,939,082 (GRCm39) T486A probably benign Het
Fkbp10 G T 11: 100,306,715 (GRCm39) A36S probably benign Het
Fnip1 A G 11: 54,393,279 (GRCm39) T572A probably benign Het
Fxn A C 19: 24,257,765 (GRCm39) probably null Het
Gaa C T 11: 119,175,324 (GRCm39) Q901* probably null Het
Gabrg1 A G 5: 70,911,594 (GRCm39) M344T probably benign Het
Galnt7 C T 8: 57,991,212 (GRCm39) V433M probably damaging Het
Gin1 A G 1: 97,712,951 (GRCm39) probably null Het
Hydin A C 8: 111,259,459 (GRCm39) D2477A probably benign Het
Igsf6 T C 7: 120,670,031 (GRCm39) Y37C probably damaging Het
Il18rap A G 1: 40,570,687 (GRCm39) I210V probably benign Het
Kif3a T C 11: 53,489,561 (GRCm39) Y138H probably damaging Het
Klra17 A G 6: 129,845,681 (GRCm39) probably null Het
Lcorl A T 5: 45,952,688 (GRCm39) I55N probably damaging Het
Lrrc49 A G 9: 60,510,059 (GRCm39) S398P possibly damaging Het
Ltv1 A G 10: 13,055,018 (GRCm39) L384S probably damaging Het
Mageb3 A T 2: 121,784,918 (GRCm39) Y261* probably null Het
Mical3 T G 6: 121,019,196 (GRCm39) T9P probably benign Het
Myrip C T 9: 120,217,228 (GRCm39) S49L probably damaging Het
Nrap T C 19: 56,372,487 (GRCm39) probably benign Het
Or2m12 T C 16: 19,104,627 (GRCm39) N289D probably damaging Het
Or4k5 A G 14: 50,385,728 (GRCm39) V201A probably benign Het
Otoa A T 7: 120,759,753 (GRCm39) probably benign Het
Pals2 T G 6: 50,140,411 (GRCm39) F144V probably benign Het
Parp11 T A 6: 127,467,008 (GRCm39) I133N probably damaging Het
Pcnx1 A G 12: 81,965,416 (GRCm39) T528A probably benign Het
Pde4c A G 8: 71,179,638 (GRCm39) H63R probably benign Het
Pdpk1 T C 17: 24,329,878 (GRCm39) K53E probably damaging Het
Pdzd7 A T 19: 45,024,615 (GRCm39) M468K probably damaging Het
Perm1 C A 4: 156,303,061 (GRCm39) P535Q possibly damaging Het
Pgap1 C A 1: 54,575,128 (GRCm39) A265S probably benign Het
Pik3c2a A T 7: 115,975,747 (GRCm39) probably null Het
Plxnd1 T C 6: 115,957,562 (GRCm39) T491A possibly damaging Het
Pms1 A T 1: 53,246,128 (GRCm39) D470E probably benign Het
Prf1 C A 10: 61,138,762 (GRCm39) T240N probably damaging Het
Prune2 A G 19: 17,099,445 (GRCm39) T1650A probably benign Het
Ptprf A G 4: 118,080,462 (GRCm39) L1264P probably benign Het
Ptprs A G 17: 56,726,527 (GRCm39) S948P probably damaging Het
Rapgef1 T C 2: 29,576,268 (GRCm39) V117A probably damaging Het
Rnf123 A G 9: 107,940,125 (GRCm39) V756A probably benign Het
Sez6l2 A G 7: 126,566,291 (GRCm39) E741G probably damaging Het
Shc3 A T 13: 51,626,888 (GRCm39) I125K possibly damaging Het
Smr3a A T 5: 88,155,917 (GRCm39) probably benign Het
St6gal1 A T 16: 23,140,083 (GRCm39) K85* probably null Het
Taf1b T G 12: 24,597,121 (GRCm39) D353E possibly damaging Het
Tcp10b C T 17: 13,286,590 (GRCm39) P180S possibly damaging Het
Tlr9 A T 9: 106,102,142 (GRCm39) M478L probably benign Het
Tpr A T 1: 150,295,654 (GRCm39) E892D probably damaging Het
Trio C T 15: 27,742,581 (GRCm39) W22* probably null Het
Usp14 A G 18: 10,024,673 (GRCm39) V8A probably damaging Het
Vmn2r19 A T 6: 123,307,011 (GRCm39) K506N possibly damaging Het
Vmn2r45 T A 7: 8,475,372 (GRCm39) N552I probably damaging Het
Vmn2r56 A T 7: 12,449,542 (GRCm39) M232K probably benign Het
Vps13b T A 15: 35,910,788 (GRCm39) F3517L possibly damaging Het
Yif1a C T 19: 5,142,333 (GRCm39) R247* probably null Het
Zbtb5 A G 4: 44,993,767 (GRCm39) V539A probably benign Het
Zfp180 G A 7: 23,804,652 (GRCm39) R357Q probably damaging Het
Zfp536 A G 7: 37,268,042 (GRCm39) L458P probably damaging Het
Zfp646 G A 7: 127,482,292 (GRCm39) G1490S probably benign Het
Zfp970 C T 2: 177,167,976 (GRCm39) H517Y probably damaging Het
Zranb3 A T 1: 127,945,293 (GRCm39) probably null Het
Other mutations in Spef2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00490:Spef2 APN 15 9,740,621 (GRCm39) missense probably damaging 1.00
IGL00886:Spef2 APN 15 9,663,181 (GRCm39) missense probably damaging 1.00
IGL01409:Spef2 APN 15 9,716,499 (GRCm39) missense probably damaging 1.00
IGL01413:Spef2 APN 15 9,676,376 (GRCm39) missense probably benign 0.16
IGL01474:Spef2 APN 15 9,663,244 (GRCm39) missense probably benign 0.00
IGL01603:Spef2 APN 15 9,704,466 (GRCm39) missense probably damaging 0.99
IGL02320:Spef2 APN 15 9,717,662 (GRCm39) missense probably damaging 0.99
IGL02570:Spef2 APN 15 9,717,584 (GRCm39) nonsense probably null
IGL02605:Spef2 APN 15 9,725,238 (GRCm39) missense probably damaging 0.99
IGL02890:Spef2 APN 15 9,748,853 (GRCm39) start codon destroyed probably null 1.00
IGL02904:Spef2 APN 15 9,679,432 (GRCm39) missense probably damaging 1.00
IGL02942:Spef2 APN 15 9,668,960 (GRCm39) missense possibly damaging 0.71
IGL02953:Spef2 APN 15 9,713,329 (GRCm39) missense possibly damaging 0.82
IGL02965:Spef2 APN 15 9,725,192 (GRCm39) splice site probably benign
IGL03263:Spef2 APN 15 9,667,305 (GRCm39) missense possibly damaging 0.72
IGL03302:Spef2 APN 15 9,676,466 (GRCm39) missense probably benign 0.01
R0101:Spef2 UTSW 15 9,713,194 (GRCm39) missense probably damaging 1.00
R0101:Spef2 UTSW 15 9,713,194 (GRCm39) missense probably damaging 1.00
R0183:Spef2 UTSW 15 9,716,445 (GRCm39) missense possibly damaging 0.70
R0386:Spef2 UTSW 15 9,584,148 (GRCm39) missense probably damaging 1.00
R0511:Spef2 UTSW 15 9,584,070 (GRCm39) critical splice donor site probably null
R0617:Spef2 UTSW 15 9,592,844 (GRCm39) missense probably damaging 1.00
R0655:Spef2 UTSW 15 9,626,217 (GRCm39) missense possibly damaging 0.96
R0829:Spef2 UTSW 15 9,687,899 (GRCm39) missense probably benign 0.10
R0908:Spef2 UTSW 15 9,614,281 (GRCm39) splice site probably null
R0939:Spef2 UTSW 15 9,704,636 (GRCm39) splice site probably null
R0973:Spef2 UTSW 15 9,716,482 (GRCm39) missense probably damaging 1.00
R1371:Spef2 UTSW 15 9,725,194 (GRCm39) splice site probably benign
R1392:Spef2 UTSW 15 9,647,349 (GRCm39) missense probably benign 0.15
R1392:Spef2 UTSW 15 9,647,349 (GRCm39) missense probably benign 0.15
R1428:Spef2 UTSW 15 9,596,793 (GRCm39) unclassified probably benign
R1518:Spef2 UTSW 15 9,667,316 (GRCm39) missense probably damaging 1.00
R1585:Spef2 UTSW 15 9,596,660 (GRCm39) missense probably damaging 1.00
R1654:Spef2 UTSW 15 9,634,738 (GRCm39) missense probably damaging 0.99
R1723:Spef2 UTSW 15 9,614,295 (GRCm39) missense probably damaging 1.00
R1757:Spef2 UTSW 15 9,717,568 (GRCm39) missense probably damaging 1.00
R1812:Spef2 UTSW 15 9,679,435 (GRCm39) missense probably damaging 1.00
R1818:Spef2 UTSW 15 9,584,194 (GRCm39) missense probably damaging 0.96
R1873:Spef2 UTSW 15 9,584,194 (GRCm39) missense probably damaging 0.96
R1875:Spef2 UTSW 15 9,597,487 (GRCm39) missense possibly damaging 0.78
R1875:Spef2 UTSW 15 9,584,194 (GRCm39) missense probably damaging 0.96
R1897:Spef2 UTSW 15 9,729,740 (GRCm39) nonsense probably null
R1901:Spef2 UTSW 15 9,607,463 (GRCm39) missense probably damaging 1.00
R1902:Spef2 UTSW 15 9,607,463 (GRCm39) missense probably damaging 1.00
R1943:Spef2 UTSW 15 9,663,280 (GRCm39) missense possibly damaging 0.76
R1968:Spef2 UTSW 15 9,609,602 (GRCm39) missense probably damaging 1.00
R1973:Spef2 UTSW 15 9,663,152 (GRCm39) makesense probably null
R1998:Spef2 UTSW 15 9,668,989 (GRCm39) critical splice acceptor site probably null
R1999:Spef2 UTSW 15 9,668,989 (GRCm39) critical splice acceptor site probably null
R2008:Spef2 UTSW 15 9,713,271 (GRCm39) missense possibly damaging 0.95
R2111:Spef2 UTSW 15 9,589,659 (GRCm39) missense probably damaging 1.00
R2127:Spef2 UTSW 15 9,729,747 (GRCm39) missense possibly damaging 0.53
R2405:Spef2 UTSW 15 9,626,120 (GRCm39) nonsense probably null
R2517:Spef2 UTSW 15 9,725,283 (GRCm39) missense possibly damaging 0.93
R2889:Spef2 UTSW 15 9,630,699 (GRCm39) missense probably damaging 0.99
R2988:Spef2 UTSW 15 9,682,709 (GRCm39) missense probably benign 0.43
R3792:Spef2 UTSW 15 9,704,622 (GRCm39) missense probably damaging 1.00
R4154:Spef2 UTSW 15 9,626,107 (GRCm39) missense probably benign 0.13
R4159:Spef2 UTSW 15 9,676,407 (GRCm39) missense probably damaging 1.00
R4199:Spef2 UTSW 15 9,667,366 (GRCm39) missense probably damaging 1.00
R4320:Spef2 UTSW 15 9,679,429 (GRCm39) missense possibly damaging 0.93
R4321:Spef2 UTSW 15 9,679,429 (GRCm39) missense possibly damaging 0.93
R4568:Spef2 UTSW 15 9,647,303 (GRCm39) missense probably damaging 1.00
R4625:Spef2 UTSW 15 9,647,524 (GRCm39) missense probably damaging 1.00
R4669:Spef2 UTSW 15 9,676,459 (GRCm39) missense probably benign 0.42
R4684:Spef2 UTSW 15 9,647,576 (GRCm39) missense probably benign 0.44
R4761:Spef2 UTSW 15 9,653,040 (GRCm39) missense probably damaging 1.00
R4839:Spef2 UTSW 15 9,713,264 (GRCm39) nonsense probably null
R5004:Spef2 UTSW 15 9,578,413 (GRCm39) missense probably benign 0.02
R5157:Spef2 UTSW 15 9,668,877 (GRCm39) nonsense probably null
R5230:Spef2 UTSW 15 9,667,316 (GRCm39) missense possibly damaging 0.62
R5315:Spef2 UTSW 15 9,596,777 (GRCm39) missense probably damaging 0.98
R5400:Spef2 UTSW 15 9,614,367 (GRCm39) missense probably damaging 1.00
R5591:Spef2 UTSW 15 9,583,922 (GRCm39) missense probably benign 0.02
R5599:Spef2 UTSW 15 9,729,789 (GRCm39) missense possibly damaging 0.53
R5605:Spef2 UTSW 15 9,609,606 (GRCm39) missense probably damaging 0.96
R5787:Spef2 UTSW 15 9,748,812 (GRCm39) missense possibly damaging 0.91
R5939:Spef2 UTSW 15 9,614,301 (GRCm39) missense probably benign 0.16
R6177:Spef2 UTSW 15 9,727,618 (GRCm39) missense possibly damaging 0.89
R6641:Spef2 UTSW 15 9,626,059 (GRCm39) missense probably damaging 1.00
R6665:Spef2 UTSW 15 9,600,604 (GRCm39) critical splice donor site probably null
R6944:Spef2 UTSW 15 9,592,835 (GRCm39) missense probably damaging 1.00
R6956:Spef2 UTSW 15 9,685,021 (GRCm39) missense probably damaging 1.00
R6968:Spef2 UTSW 15 9,597,426 (GRCm39) missense probably benign 0.02
R7089:Spef2 UTSW 15 9,725,257 (GRCm39) missense probably damaging 1.00
R7117:Spef2 UTSW 15 9,729,924 (GRCm39) missense probably damaging 1.00
R7161:Spef2 UTSW 15 9,717,689 (GRCm39) missense probably benign 0.29
R7223:Spef2 UTSW 15 9,601,726 (GRCm39) missense unknown
R7263:Spef2 UTSW 15 9,653,098 (GRCm39) splice site probably null
R7270:Spef2 UTSW 15 9,600,066 (GRCm39) critical splice donor site probably null
R7303:Spef2 UTSW 15 9,647,576 (GRCm39) missense possibly damaging 0.92
R7369:Spef2 UTSW 15 9,584,293 (GRCm39) missense probably benign 0.02
R7464:Spef2 UTSW 15 9,740,671 (GRCm39) missense probably benign 0.23
R7498:Spef2 UTSW 15 9,727,625 (GRCm39) missense probably benign
R7587:Spef2 UTSW 15 9,713,305 (GRCm39) missense probably damaging 1.00
R7748:Spef2 UTSW 15 9,653,031 (GRCm39) missense probably damaging 0.98
R7772:Spef2 UTSW 15 9,704,567 (GRCm39) missense probably damaging 0.99
R7838:Spef2 UTSW 15 9,609,637 (GRCm39) missense possibly damaging 0.53
R7854:Spef2 UTSW 15 9,596,730 (GRCm39) missense possibly damaging 0.77
R7855:Spef2 UTSW 15 9,687,981 (GRCm39) missense possibly damaging 0.53
R7889:Spef2 UTSW 15 9,717,649 (GRCm39) missense probably damaging 1.00
R7943:Spef2 UTSW 15 9,601,171 (GRCm39) missense unknown
R8105:Spef2 UTSW 15 9,682,748 (GRCm39) missense probably benign 0.06
R8151:Spef2 UTSW 15 9,601,598 (GRCm39) missense unknown
R8296:Spef2 UTSW 15 9,727,629 (GRCm39) missense probably benign 0.06
R8393:Spef2 UTSW 15 9,676,615 (GRCm39) missense probably benign 0.27
R8405:Spef2 UTSW 15 9,612,643 (GRCm39) missense probably benign 0.00
R8552:Spef2 UTSW 15 9,600,765 (GRCm39) intron probably benign
R8691:Spef2 UTSW 15 9,602,005 (GRCm39) nonsense probably null
R8751:Spef2 UTSW 15 9,729,723 (GRCm39) nonsense probably null
R8847:Spef2 UTSW 15 9,668,913 (GRCm39) missense probably benign
R8864:Spef2 UTSW 15 9,599,833 (GRCm39) missense unknown
R8868:Spef2 UTSW 15 9,729,747 (GRCm39) missense possibly damaging 0.53
R8916:Spef2 UTSW 15 9,725,266 (GRCm39) nonsense probably null
R8935:Spef2 UTSW 15 9,607,436 (GRCm39) missense probably damaging 0.98
R8961:Spef2 UTSW 15 9,647,414 (GRCm39) missense possibly damaging 0.92
R8978:Spef2 UTSW 15 9,725,263 (GRCm39) missense possibly damaging 0.81
R9062:Spef2 UTSW 15 9,601,717 (GRCm39) missense unknown
R9076:Spef2 UTSW 15 9,653,091 (GRCm39) missense probably benign 0.13
R9149:Spef2 UTSW 15 9,717,568 (GRCm39) missense probably damaging 1.00
R9162:Spef2 UTSW 15 9,602,017 (GRCm39) missense unknown
R9216:Spef2 UTSW 15 9,647,611 (GRCm39) missense probably damaging 1.00
R9240:Spef2 UTSW 15 9,578,401 (GRCm39) nonsense probably null
R9278:Spef2 UTSW 15 9,727,495 (GRCm39) critical splice donor site probably null
R9341:Spef2 UTSW 15 9,713,190 (GRCm39) missense probably damaging 1.00
R9343:Spef2 UTSW 15 9,713,190 (GRCm39) missense probably damaging 1.00
R9389:Spef2 UTSW 15 9,725,307 (GRCm39) missense probably damaging 0.96
R9476:Spef2 UTSW 15 9,713,203 (GRCm39) missense probably damaging 1.00
R9510:Spef2 UTSW 15 9,713,203 (GRCm39) missense probably damaging 1.00
R9537:Spef2 UTSW 15 9,601,885 (GRCm39) missense unknown
R9575:Spef2 UTSW 15 9,596,672 (GRCm39) missense probably damaging 1.00
R9597:Spef2 UTSW 15 9,599,897 (GRCm39) missense unknown
R9765:Spef2 UTSW 15 9,601,945 (GRCm39) missense unknown
X0025:Spef2 UTSW 15 9,596,708 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCCAGGTCCTGAAAAGTCTTG -3'
(R):5'- AGCATCTCCATTGCTCGAAG -3'

Sequencing Primer
(F):5'- GGTCCTGAAAAGTCTTGATGAAATTC -3'
(R):5'- GCTCGAAGCATCTCTGTCTG -3'
Posted On 2014-06-23