Incidental Mutation 'R7498:Spef2'
ID 581237
Institutional Source Beutler Lab
Gene Symbol Spef2
Ensembl Gene ENSMUSG00000072663
Gene Name sperm flagellar 2
Synonyms C230086A09Rik
MMRRC Submission 045571-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # R7498 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 9578279-9748954 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 9727625 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 153 (M153L)
Ref Sequence ENSEMBL: ENSMUSP00000124891 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041840] [ENSMUST00000159093] [ENSMUST00000159368] [ENSMUST00000160236] [ENSMUST00000162780] [ENSMUST00000208854]
AlphaFold Q8C9J3
Predicted Effect probably benign
Transcript: ENSMUST00000041840
SMART Domains Protein: ENSMUSP00000035762
Gene: ENSMUSG00000072663

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 benign
Transcript: ENSMUST00000159093
AA Change: M153L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000124891
Gene: ENSMUSG00000072663
AA Change: M153L

DomainStartEndE-ValueType
Pfam:DUF1042 5 166 3.5e-57 PFAM
coiled coil region 167 205 N/A INTRINSIC
low complexity region 208 220 N/A INTRINSIC
coiled coil region 228 260 N/A INTRINSIC
low complexity region 304 313 N/A INTRINSIC
coiled coil region 369 402 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159368
SMART Domains Protein: ENSMUSP00000124723
Gene: ENSMUSG00000072663

DomainStartEndE-ValueType
Pfam:DUF1042 5 162 1.4e-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
Predicted Effect probably benign
Transcript: ENSMUST00000160236
SMART Domains Protein: ENSMUSP00000124222
Gene: ENSMUSG00000072663

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: ENSMUST00000162780
AA Change: M153L

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000124393
Gene: ENSMUSG00000072663
AA Change: M153L

DomainStartEndE-ValueType
Pfam:DUF1042 5 164 1.1e-57 PFAM
coiled coil region 167 205 N/A INTRINSIC
low complexity region 208 220 N/A INTRINSIC
coiled coil region 228 260 N/A INTRINSIC
low complexity region 304 313 N/A INTRINSIC
coiled coil region 369 402 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000208854
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 99% (75/76)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik G A 2: 68,498,012 (GRCm39) E148K unknown Het
Adgrl2 T A 3: 148,564,852 (GRCm39) K243* probably null Het
Adgrv1 A T 13: 81,588,344 (GRCm39) V4414E possibly damaging Het
Ahnak A T 19: 8,989,383 (GRCm39) I3556F probably benign Het
Akap6 C T 12: 53,189,488 (GRCm39) R2301* probably null Het
Alg6 A G 4: 99,636,933 (GRCm39) T305A probably damaging Het
Alpk1 C T 3: 127,473,427 (GRCm39) A859T probably benign Het
Apba3 T A 10: 81,104,735 (GRCm39) F3I possibly damaging Het
Birc6 A G 17: 74,967,465 (GRCm39) E4151G probably damaging Het
Bmp2k T A 5: 97,235,978 (GRCm39) F1134I probably benign Het
C6 A T 15: 4,792,846 (GRCm39) H317L probably damaging Het
Catsperg2 G A 7: 29,416,527 (GRCm39) S295L possibly damaging Het
Ccdc142 G T 6: 83,080,212 (GRCm39) R385L possibly damaging Het
Ciz1 A T 2: 32,261,761 (GRCm39) M482L probably benign Het
Crisp3 A G 17: 40,536,693 (GRCm39) probably null Het
Dcaf15 G A 8: 84,828,392 (GRCm39) P233S probably damaging Het
Def8 A G 8: 124,174,583 (GRCm39) N16S probably damaging Het
Dnah7b T G 1: 46,364,925 (GRCm39) S3569A probably damaging Het
Dok6 C T 18: 89,787,443 (GRCm39) probably benign Het
Dop1a A T 9: 86,376,464 (GRCm39) T233S possibly damaging Het
Ep300 T A 15: 81,524,044 (GRCm39) V1325D unknown Het
Fancm T A 12: 65,146,165 (GRCm39) H629Q probably benign Het
Fbxo10 T C 4: 45,062,194 (GRCm39) S111G probably benign Het
Fbxo21 T C 5: 118,140,239 (GRCm39) probably null Het
Fdx1 A C 9: 51,859,898 (GRCm39) L144R probably damaging Het
Fgfr3 GGACCTCTCCGTG GG 5: 33,892,766 (GRCm39) probably null Het
Flot2 G A 11: 77,944,188 (GRCm39) probably null Het
Fndc10 C T 4: 155,779,195 (GRCm39) R80C probably damaging Het
Fut8 A T 12: 77,459,708 (GRCm39) T274S probably benign Het
Gli2 T C 1: 118,763,565 (GRCm39) M1529V possibly damaging Het
Gm7361 C A 5: 26,466,188 (GRCm39) H183Q probably benign Het
Hdlbp T A 1: 93,341,337 (GRCm39) H1007L probably benign Het
Hmcn2 A C 2: 31,273,487 (GRCm39) probably null Het
Inhbb C T 1: 119,345,608 (GRCm39) R227H probably damaging Het
Kifc1 A G 17: 34,102,846 (GRCm39) F256L probably benign Het
Lman2 A T 13: 55,494,790 (GRCm39) F326Y probably damaging Het
Mcmdc2 T C 1: 9,989,302 (GRCm39) V242A probably benign Het
Mettl8 A C 2: 70,795,969 (GRCm39) V306G probably damaging Het
Mog A T 17: 37,322,984 (GRCm39) probably null Het
Morc2b G A 17: 33,356,833 (GRCm39) A313V possibly damaging Het
Myh3 A G 11: 66,987,874 (GRCm39) N1449S possibly damaging Het
Myh8 C A 11: 67,174,263 (GRCm39) T200K possibly damaging Het
Myo16 T A 8: 10,450,589 (GRCm39) H530Q unknown Het
Neb C T 2: 52,148,188 (GRCm39) R2686H probably damaging Het
Nudt2 T C 4: 41,480,539 (GRCm39) F141L possibly damaging Het
Obscn G A 11: 58,973,539 (GRCm39) H1931Y probably damaging Het
Odad3 A G 9: 21,913,553 (GRCm39) I73T probably damaging Het
Or10al5 A G 17: 38,063,242 (GRCm39) T166A probably damaging Het
Or2d4 A T 7: 106,543,575 (GRCm39) V211D possibly damaging Het
Or5p80 T A 7: 108,229,623 (GRCm39) C141* probably null Het
Plcb1 T A 2: 135,104,153 (GRCm39) L274* probably null Het
Plcb1 G T 2: 135,104,154 (GRCm39) L274F probably damaging Het
Potefam3d A C 8: 69,972,475 (GRCm39) Y91* probably null Het
Prc1 C T 7: 79,962,898 (GRCm39) T564M possibly damaging Het
Psd4 G A 2: 24,296,996 (GRCm39) R923Q probably damaging Het
Ptprj G A 2: 90,266,909 (GRCm39) Q1300* probably null Het
Rapgef6 G T 11: 54,510,830 (GRCm39) R249L probably damaging Het
Slain1 G A 14: 103,893,429 (GRCm39) probably null Het
Slfn9 A T 11: 82,873,013 (GRCm39) I630N probably damaging Het
Smg6 G A 11: 74,819,932 (GRCm39) A68T probably benign Het
Spata31h1 T A 10: 82,127,113 (GRCm39) T1966S probably benign Het
St8sia4 T A 1: 95,519,418 (GRCm39) M357L probably benign Het
Tal1 A T 4: 114,925,879 (GRCm39) H316L possibly damaging Het
Tenm4 A G 7: 96,497,224 (GRCm39) E1207G probably damaging Het
Tmem64 C A 4: 15,266,176 (GRCm39) H75Q probably benign Het
Tor4a A G 2: 25,085,804 (GRCm39) V33A probably benign Het
Traj52 C T 14: 54,402,818 (GRCm39) T15I Het
Trim50 G A 5: 135,392,768 (GRCm39) V228M probably benign Het
Trpm1 A T 7: 63,858,657 (GRCm39) I360F possibly damaging Het
Trpm6 A T 19: 18,853,484 (GRCm39) R1835W probably damaging Het
Ubn1 T C 16: 4,894,969 (GRCm39) S672P probably damaging Het
Ugt2a2 C T 5: 87,622,500 (GRCm39) C156Y probably damaging Het
Wnk1 T C 6: 119,904,157 (GRCm39) S2223G unknown Het
Wnt7b G T 15: 85,427,880 (GRCm39) A194E probably damaging Het
Zmpste24 A G 4: 120,940,028 (GRCm39) V206A 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
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 9,597,487 (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
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'- AATGTGTGCTTACTACAGGCAG -3'
(R):5'- CGGGATGTGGTATGAGGACC -3'

Sequencing Primer
(F):5'- CCACCAGGTATACTAGGTACTAATG -3'
(R):5'- GACCAAAAGGAAAGAGGTCTTTG -3'
Posted On 2019-10-17