Incidental Mutation 'R8751:Spef2'
ID 663872
Institutional Source Beutler Lab
Gene Symbol Spef2
Ensembl Gene ENSMUSG00000072663
Gene Name sperm flagellar 2
Synonyms C230086A09Rik
MMRRC Submission 068594-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # R8751 (G1)
Quality Score 214.009
Status Not validated
Chromosome 15
Chromosomal Location 9578279-9748954 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 9729723 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 132 (K132*)
Ref Sequence ENSEMBL: ENSMUSP00000035762 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041840] [ENSMUST00000159093] [ENSMUST00000159368] [ENSMUST00000160236] [ENSMUST00000162780] [ENSMUST00000208854]
AlphaFold Q8C9J3
Predicted Effect probably null
Transcript: ENSMUST00000041840
AA Change: K132*
SMART Domains Protein: ENSMUSP00000035762
Gene: ENSMUSG00000072663
AA Change: K132*

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 null
Transcript: ENSMUST00000159093
AA Change: K132*
SMART Domains Protein: ENSMUSP00000124891
Gene: ENSMUSG00000072663
AA Change: K132*

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 null
Transcript: ENSMUST00000159368
AA Change: K132*
SMART Domains Protein: ENSMUSP00000124723
Gene: ENSMUSG00000072663
AA Change: K132*

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 null
Transcript: ENSMUST00000160236
AA Change: K132*
SMART Domains Protein: ENSMUSP00000124222
Gene: ENSMUSG00000072663
AA Change: K132*

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 null
Transcript: ENSMUST00000162780
AA Change: K132*
SMART Domains Protein: ENSMUSP00000124393
Gene: ENSMUSG00000072663
AA Change: K132*

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 null
Transcript: ENSMUST00000208854
AA Change: K132*
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 96.2%
Validation Efficiency
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts12 T A 15: 11,215,813 (GRCm39) I278N probably damaging Het
Adcy9 A G 16: 4,129,492 (GRCm39) W702R probably damaging Het
Adgrf5 G A 17: 43,748,574 (GRCm39) V468I possibly damaging Het
Ahnak A C 19: 8,987,509 (GRCm39) K2931T probably damaging Het
Ank3 C T 10: 69,761,849 (GRCm39) probably benign Het
Birc6 G A 17: 74,955,135 (GRCm39) V3480I probably damaging Het
Bpifa5 A T 2: 154,007,432 (GRCm39) I125L probably benign Het
Catsperg2 T C 7: 29,404,744 (GRCm39) D773G possibly damaging Het
Ccm2l A T 2: 152,909,695 (GRCm39) I16F probably benign Het
Cep72 G A 13: 74,198,303 (GRCm39) S359F possibly damaging Het
Col1a1 A G 11: 94,838,100 (GRCm39) N844S unknown Het
Col7a1 C T 9: 108,796,730 (GRCm39) P1623S possibly damaging Het
Crybg1 T C 10: 43,880,838 (GRCm39) K117E probably benign Het
Csmd3 A G 15: 47,845,402 (GRCm39) C54R Het
Dlg1 A G 16: 31,600,648 (GRCm39) T211A probably benign Het
Emc1 C A 4: 139,097,279 (GRCm39) H724N possibly damaging Het
Epg5 A C 18: 78,008,223 (GRCm39) N784H probably benign Het
Epg5 T A 18: 78,008,225 (GRCm39) N784K probably benign Het
Epg5 A T 18: 78,008,224 (GRCm39) N784I possibly damaging Het
Erc2 A G 14: 27,802,145 (GRCm39) E771G possibly damaging Het
Exo1 T C 1: 175,719,678 (GRCm39) V241A probably benign Het
Fat4 A G 3: 38,946,002 (GRCm39) T1632A probably benign Het
Fbxo21 T A 5: 118,140,127 (GRCm39) M529K probably damaging Het
Fhad1 T C 4: 141,646,134 (GRCm39) E276G probably benign Het
Frem1 G A 4: 82,889,015 (GRCm39) T1069I probably damaging Het
Gapvd1 A C 2: 34,568,078 (GRCm39) F1429V probably damaging Het
Gbp9 T C 5: 105,229,117 (GRCm39) E510G possibly damaging Het
Gm17087 A T 17: 8,785,510 (GRCm39) H64Q probably damaging Het
Gm19965 A T 1: 116,749,867 (GRCm39) Y516F unknown Het
Hdac5 A T 11: 102,109,280 (GRCm39) I38N probably benign Het
Hectd4 T A 5: 121,501,838 (GRCm39) C4190* probably null Het
Helb A T 10: 119,925,412 (GRCm39) D988E probably benign Het
Herc6 C T 6: 57,639,359 (GRCm39) S909L probably damaging Het
Ice1 A T 13: 70,751,010 (GRCm39) V1692E probably damaging Het
Ino80 A G 2: 119,237,389 (GRCm39) Y1107H probably benign Het
Kif9 A T 9: 110,330,724 (GRCm39) Y350F probably benign Het
Lct T A 1: 128,221,534 (GRCm39) T1570S probably benign Het
Lias T A 5: 65,557,193 (GRCm39) N203K probably benign Het
Lrrtm4 A G 6: 79,999,092 (GRCm39) N168S probably damaging Het
Ltf A T 9: 110,860,192 (GRCm39) K538* probably null Het
Lysmd4 A G 7: 66,875,787 (GRCm39) D150G probably benign Het
Magi2 A G 5: 20,739,462 (GRCm39) D572G probably benign Het
Meiob T C 17: 25,047,008 (GRCm39) probably null Het
Ncor2 T C 5: 125,115,964 (GRCm39) Y130C Het
Ntmt2 T A 1: 163,544,738 (GRCm39) T82S probably benign Het
Ofcc1 A G 13: 40,409,072 (GRCm39) S118P probably benign Het
Or10g3 A G 14: 52,610,420 (GRCm39) F30S probably benign Het
Or2t45 A G 11: 58,669,213 (GRCm39) T87A probably benign Het
Or8b55 T A 9: 38,727,335 (GRCm39) C179S probably damaging Het
Parp14 A T 16: 35,677,181 (GRCm39) M929K probably benign Het
Pcdh8 T C 14: 80,006,229 (GRCm39) E778G probably benign Het
Pgls T C 8: 72,047,838 (GRCm39) V211A probably benign Het
Pkd2 T A 5: 104,637,151 (GRCm39) M588K probably damaging Het
Pms1 T C 1: 53,231,269 (GRCm39) N860S probably benign Het
Psg19 C T 7: 18,530,888 (GRCm39) V89M probably benign Het
Reln T C 5: 22,147,672 (GRCm39) H2426R probably benign Het
Ripor2 T A 13: 24,885,050 (GRCm39) N428K possibly damaging Het
Slc12a4 C T 8: 106,676,285 (GRCm39) probably null Het
Slc25a3 T C 10: 90,952,960 (GRCm39) I314V probably benign Het
Slc29a1 C A 17: 45,900,688 (GRCm39) V125F probably benign Het
Slc9a5 T A 8: 106,085,981 (GRCm39) C583S probably damaging Het
Slco2b1 G A 7: 99,309,259 (GRCm39) Q691* probably null Het
Smg7 T C 1: 152,719,129 (GRCm39) D874G probably damaging Het
Tap1 A G 17: 34,412,133 (GRCm39) K446R probably benign Het
Tcam1 A T 11: 106,176,443 (GRCm39) T390S possibly damaging Het
Tnik A G 3: 28,666,057 (GRCm39) N687D probably damaging Het
Trim42 T C 9: 97,251,852 (GRCm39) R16G possibly damaging Het
Vcp A C 4: 42,984,658 (GRCm39) L411W probably damaging Het
Vma21-ps C A 4: 52,496,973 (GRCm39) G91V probably damaging Het
Vmn1r23 T C 6: 57,903,452 (GRCm39) T109A probably benign Het
Vmn2r67 C T 7: 84,801,450 (GRCm39) C162Y probably benign Het
Vmn2r-ps117 A G 17: 19,044,021 (GRCm39) T366A probably benign Het
Zfp804a A G 2: 82,066,190 (GRCm39) K54E probably damaging 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
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
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'- ATCAGTAGTGTGACTAGGAAGC -3'
(R):5'- ACCAACACTTCACCTGCTGG -3'

Sequencing Primer
(F):5'- TAGTGTGACTAGGAAGCAGGGAG -3'
(R):5'- CTGGGTTTGCAGTTTGATCAGAATG -3'
Posted On 2021-03-08