Incidental Mutation 'R1875:Spef2'
ID 211177
Institutional Source Beutler Lab
Gene Symbol Spef2
Ensembl Gene ENSMUSG00000072663
Gene Name sperm flagellar 2
Synonyms C230086A09Rik
MMRRC Submission 039897-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # R1875 (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 9597487 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 1390 (G1390R)
Ref Sequence ENSEMBL: ENSMUSP00000124222 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000160236] [ENSMUST00000208854]
AlphaFold Q8C9J3
Predicted Effect possibly damaging
Transcript: ENSMUST00000159288
AA Change: G1400R

PolyPhen 2 Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000125336
Gene: ENSMUSG00000072663
AA Change: G1400R

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: G1390R

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000124222
Gene: ENSMUSG00000072663
AA Change: G1390R

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
Predicted Effect probably benign
Transcript: ENSMUST00000208854
Meta Mutation Damage Score 0.2644 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 92.1%
Validation Efficiency 98% (85/87)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A T 7: 119,847,190 (GRCm39) M685L possibly damaging Het
Abi3bp A G 16: 56,394,862 (GRCm39) Y190C probably damaging Het
Adam26a C A 8: 44,022,888 (GRCm39) V201L probably benign Het
Adamts20 G T 15: 94,229,277 (GRCm39) D947E probably benign Het
Ankrd26 A G 6: 118,517,410 (GRCm39) probably null Het
Apol11a C A 15: 77,397,766 (GRCm39) T39N possibly damaging Het
Arhgef38 T A 3: 132,839,501 (GRCm39) probably null Het
Armh4 T C 14: 49,919,815 (GRCm39) D772G probably damaging Het
Atp11b T C 3: 35,893,296 (GRCm39) L883P probably damaging Het
Btnl10 T A 11: 58,814,586 (GRCm39) I422N probably damaging Het
C2cd3 A G 7: 100,056,232 (GRCm39) K547E possibly damaging Het
Cdh2 T A 18: 16,757,934 (GRCm39) L549F probably benign Het
Celsr3 T C 9: 108,713,037 (GRCm39) V1825A probably benign Het
Cfap221 T C 1: 119,881,389 (GRCm39) I358V probably benign Het
Cimap2 G A 4: 106,470,453 (GRCm39) probably benign Het
Csmd1 T C 8: 15,979,101 (GRCm39) K2828E probably damaging Het
Ddah2 T C 17: 35,279,821 (GRCm39) F137S probably damaging Het
Ddx21 A G 10: 62,429,847 (GRCm39) I299T probably damaging Het
Dnah7a A T 1: 53,495,691 (GRCm39) probably benign Het
Elmod1 A G 9: 53,843,151 (GRCm39) I9T probably benign Het
Epha2 A G 4: 141,036,290 (GRCm39) E242G probably benign Het
Erbb3 T C 10: 128,410,335 (GRCm39) H641R possibly damaging Het
Fbxl18 G A 5: 142,871,978 (GRCm39) A419V probably damaging Het
Fli1 T C 9: 32,335,209 (GRCm39) M408V probably benign Het
Fmo4 T C 1: 162,631,187 (GRCm39) N260S possibly damaging Het
Fry A G 5: 150,249,597 (GRCm39) E136G probably damaging Het
Gm10477 T A X: 55,570,127 (GRCm39) F9Y probably damaging Het
Gm8258 A G 5: 104,924,320 (GRCm39) noncoding transcript Het
Gpr68 T A 12: 100,845,049 (GRCm39) D165V probably damaging Het
Htt T A 5: 34,951,456 (GRCm39) M139K probably benign Het
Jup A G 11: 100,263,120 (GRCm39) probably null Het
Kifc5b G A 17: 27,136,264 (GRCm39) probably null Het
Krba1 T A 6: 48,390,983 (GRCm39) probably null Het
Lamp1 G A 8: 13,217,257 (GRCm39) G89R probably damaging Het
Lrrc17 C T 5: 21,765,650 (GRCm39) S44F possibly damaging Het
Mdga1 T C 17: 30,071,581 (GRCm39) T347A probably damaging Het
Mical3 A T 6: 121,019,025 (GRCm39) W66R probably damaging Het
Mpl A G 4: 118,314,026 (GRCm39) Y73H probably benign Het
Mterf1b T A 5: 4,247,364 (GRCm39) I335N possibly damaging Het
Mylk3 A G 8: 86,079,494 (GRCm39) I388T probably damaging Het
Myo15a C T 11: 60,398,354 (GRCm39) R2775W probably damaging Het
Myoz2 A T 3: 122,819,765 (GRCm39) S65T probably damaging Het
Ndrg1 T C 15: 66,802,940 (GRCm39) T137A possibly damaging Het
Neil3 G T 8: 54,052,454 (GRCm39) N381K probably damaging Het
Obsl1 T C 1: 75,474,877 (GRCm39) Y841C probably damaging Het
Or2b4 A G 17: 38,115,996 (GRCm39) probably benign Het
Or6b6 G A 7: 106,571,389 (GRCm39) S54F possibly damaging Het
Otogl T C 10: 107,735,451 (GRCm39) D111G probably damaging Het
Parp10 T C 15: 76,127,051 (GRCm39) E103G probably damaging Het
Pars2 T C 4: 106,510,913 (GRCm39) F232L possibly damaging Het
Pcdh18 A T 3: 49,709,154 (GRCm39) F720L probably damaging Het
Phf3 T C 1: 30,869,704 (GRCm39) E448G possibly damaging Het
Pigc A G 1: 161,798,516 (GRCm39) Y166C probably damaging Het
Pik3c2a A T 7: 116,017,206 (GRCm39) S184T probably benign Het
Pkd1l1 A G 11: 8,794,670 (GRCm39) probably benign Het
Plch2 G A 4: 155,082,965 (GRCm39) S485F probably damaging Het
Plxnd1 G T 6: 115,955,045 (GRCm39) probably null Het
Pnliprp2 G T 19: 58,751,821 (GRCm39) V189L probably benign Het
Prl8a2 T C 13: 27,535,037 (GRCm39) V103A probably benign Het
Psg23 G A 7: 18,344,375 (GRCm39) T360I probably benign Het
Rad51c A T 11: 87,279,469 (GRCm39) I323N probably damaging Het
Rsbn1l C T 5: 21,156,696 (GRCm39) E30K probably benign Het
Serpina3c C A 12: 104,118,145 (GRCm39) L64F probably damaging Het
Shroom1 A G 11: 53,356,502 (GRCm39) D392G probably damaging Het
Slc26a5 T A 5: 22,020,725 (GRCm39) I540L probably benign Het
Slc37a4 A G 9: 44,312,808 (GRCm39) T321A probably damaging Het
Slc41a2 A G 10: 83,091,949 (GRCm39) L438S probably damaging Het
Spmap2l A T 5: 77,202,431 (GRCm39) K284M probably benign Het
Synj2 G T 17: 6,078,825 (GRCm39) A740S possibly damaging Het
Tigd4 A C 3: 84,502,394 (GRCm39) D437A probably benign Het
Timm21 G C 18: 84,967,387 (GRCm39) L130V probably damaging Het
Tmem106a CAGCTCAACACGACGGTA CAGCTCAACACGACGGTAAGCTCAACACGACGGTA 11: 101,477,204 (GRCm39) probably benign Het
Tmem131l A T 3: 83,812,383 (GRCm39) C1313* probably null Het
Tmem86b A T 7: 4,632,698 (GRCm39) I47N possibly damaging Het
Tspan13 T C 12: 36,070,550 (GRCm39) probably null Het
Vps54 A G 11: 21,250,251 (GRCm39) T396A probably benign Het
Zfp106 A T 2: 120,344,096 (GRCm39) probably null Het
Zfp668 T C 7: 127,465,654 (GRCm39) probably null Het
Zfp809 A T 9: 22,150,027 (GRCm39) R175* 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
R1817:Spef2 UTSW 15 9,584,194 (GRCm39) missense probably damaging 0.96
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 9,584,194 (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'- TGCTAATGCTGCAAACTGGTTG -3'
(R):5'- CTGGACCAAAGAAAGAGGACATTTTAC -3'

Sequencing Primer
(F):5'- CAAACTGGTTGCCTTAGAACTATTG -3'
(R):5'- GGTAGCTTCTTTCTCTCTAGAG -3'
Posted On 2014-06-30