Incidental Mutation 'R1812:Spef2'
ID 202507
Institutional Source Beutler Lab
Gene Symbol Spef2
Ensembl Gene ENSMUSG00000072663
Gene Name sperm flagellar 2
Synonyms C230086A09Rik
MMRRC Submission 039840-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # R1812 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 9578279-9748954 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 9679435 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 634 (P634L)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041840] [ENSMUST00000160236] [ENSMUST00000208854]
AlphaFold Q8C9J3
Predicted Effect possibly damaging
Transcript: ENSMUST00000041840
AA Change: P634L

PolyPhen 2 Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000035762
Gene: ENSMUSG00000072663
AA Change: P634L

DomainStartEndE-ValueType
Pfam:DUF1042 5 161 2.8e-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 600 829 5.9e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000159288
AA Change: P634L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000125336
Gene: ENSMUSG00000072663
AA Change: P634L

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 probably damaging
Transcript: ENSMUST00000160236
AA Change: P634L

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000124222
Gene: ENSMUSG00000072663
AA Change: P634L

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 damaging
Transcript: ENSMUST00000208854
AA Change: P634L

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.3%
  • 10x: 93.2%
  • 20x: 85.7%
Validation Efficiency 100% (1/1)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik G A 9: 57,164,740 (GRCm39) Q545* probably null Het
Aadacl2 T C 3: 59,932,498 (GRCm39) C338R probably damaging Het
Abcb4 G A 5: 8,978,578 (GRCm39) probably null Het
Adam17 T C 12: 21,411,768 (GRCm39) D41G probably damaging Het
Angptl7 T A 4: 148,582,540 (GRCm39) I119F probably damaging Het
Arid1b T A 17: 5,387,304 (GRCm39) S1586T probably benign Het
Arid4b C T 13: 14,370,014 (GRCm39) A1170V probably damaging Het
Atad5 A G 11: 80,023,873 (GRCm39) T1659A probably damaging Het
Bub1b T G 2: 118,462,902 (GRCm39) D754E probably benign Het
Cdkn1a T C 17: 29,317,539 (GRCm39) V53A probably benign Het
Chsy1 T G 7: 65,821,565 (GRCm39) V600G probably benign Het
Cntrl G A 2: 35,039,481 (GRCm39) V561M probably damaging Het
Col6a5 A G 9: 105,805,253 (GRCm39) C1218R unknown Het
Crhr1 T C 11: 104,059,973 (GRCm39) L140P probably damaging Het
Cyb5b CAGAG CAG 8: 107,897,020 (GRCm39) probably null Het
Cyp3a59 A T 5: 146,039,621 (GRCm39) Q298L probably damaging Het
Dctn1 A G 6: 83,169,500 (GRCm39) E638G possibly damaging Het
Ddx41 A G 13: 55,683,767 (GRCm39) I88T probably benign Het
Dennd11 A G 6: 40,386,365 (GRCm39) I288T probably benign Het
Diaph1 G T 18: 38,024,071 (GRCm39) P589Q unknown Het
Dip2b C A 15: 100,096,819 (GRCm39) probably null Het
Dscaml1 G A 9: 45,662,584 (GRCm39) probably null Het
Dync1h1 C T 12: 110,629,334 (GRCm39) A4246V possibly damaging Het
Epb41l1 T C 2: 156,338,431 (GRCm39) I158T probably damaging Het
Fat1 A G 8: 45,489,840 (GRCm39) Y3584C probably damaging Het
Fxyd5 T A 7: 30,737,355 (GRCm39) probably null Het
Gapvd1 T A 2: 34,615,076 (GRCm39) K336* probably null Het
Gm9637 G A 14: 19,402,395 (GRCm38) noncoding transcript Het
Gpr65 C T 12: 98,242,001 (GRCm39) T218M probably damaging Het
Gsdma3 T C 11: 98,523,219 (GRCm39) V203A probably damaging Het
Helb T A 10: 119,925,471 (GRCm39) K969* probably null Het
Hipk2 G A 6: 38,675,098 (GRCm39) A1188V probably benign Het
Itpk1 T A 12: 102,540,317 (GRCm39) E255D probably benign Het
Kif21a T C 15: 90,855,969 (GRCm39) D596G possibly damaging Het
Kif5a A T 10: 127,077,879 (GRCm39) I405N probably benign Het
Klk1b11 T A 7: 43,427,179 (GRCm39) probably null Het
Luzp1 T A 4: 136,269,642 (GRCm39) L622M probably benign Het
Macf1 T A 4: 123,325,817 (GRCm39) I5227F probably damaging Het
Mapk10 A C 5: 103,061,128 (GRCm39) S470A probably damaging Het
Morc2a C T 11: 3,635,831 (GRCm39) T897I probably damaging Het
Nmbr A G 10: 14,636,283 (GRCm39) probably null Het
Nosip T A 7: 44,725,998 (GRCm39) M214K probably damaging Het
Or13c7d G T 4: 43,770,230 (GRCm39) Y260* probably null Het
Or52m2 A T 7: 102,263,577 (GRCm39) N206K possibly damaging Het
Or52r1 T C 7: 102,537,285 (GRCm39) Y25C probably benign Het
Or5w13 A G 2: 87,523,447 (GRCm39) F260L probably benign Het
Pik3c2a A T 7: 116,016,899 (GRCm39) V286E probably damaging Het
Ppfia4 T A 1: 134,252,311 (GRCm39) I388F probably benign Het
Ppm1f A G 16: 16,735,651 (GRCm39) H289R probably damaging Het
Ptprz1 T A 6: 22,959,711 (GRCm39) D69E probably benign Het
Rad54b A T 4: 11,612,770 (GRCm39) T801S probably damaging Het
Ramp1 A T 1: 91,124,579 (GRCm39) N47Y probably damaging Het
Rnf32 T A 5: 29,411,258 (GRCm39) H181Q possibly damaging Het
Rpa2 T C 4: 132,495,996 (GRCm39) F6L probably benign Het
Ryr2 C A 13: 11,575,472 (GRCm39) R4842L probably damaging Het
Scn11a G T 9: 119,609,931 (GRCm39) C972* probably null Het
Setd2 C T 9: 110,379,170 (GRCm39) T995I probably damaging Het
Slc39a7 A G 17: 34,247,789 (GRCm39) L471P probably damaging Het
Slc6a21 C G 7: 44,932,371 (GRCm39) S350R probably damaging Het
Slx4ip A G 2: 136,910,115 (GRCm39) N300S probably benign Het
Stk32b G A 5: 37,624,102 (GRCm39) A215V probably damaging Het
Svil A T 18: 5,097,545 (GRCm39) Y1676F probably damaging Het
Tanc1 G A 2: 59,622,023 (GRCm39) V381M probably damaging Het
Tanc2 T C 11: 105,777,212 (GRCm39) F797L probably benign Het
Tas2r120 T G 6: 132,634,564 (GRCm39) C215W probably benign Het
Tenm4 G A 7: 96,545,147 (GRCm39) D2388N probably damaging Het
Thsd4 C T 9: 59,964,220 (GRCm39) S64N probably damaging Het
Thsd7b C T 1: 129,686,347 (GRCm39) R630C probably damaging Het
Top3a A G 11: 60,650,188 (GRCm39) I145T probably damaging Het
Vmn2r78 A G 7: 86,569,995 (GRCm39) D171G probably benign Het
Vmn2r82 A G 10: 79,215,046 (GRCm39) E343G probably benign Het
Wdr70 T C 15: 8,108,663 (GRCm39) D161G probably benign 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
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 9,597,487 (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'- AGCTACTCTCACAATTCCGTGC -3'
(R):5'- TACAGACCCTTGAATGTGTCCC -3'

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