Incidental Mutation 'R6361:Spef1l'
ID 513117
Institutional Source Beutler Lab
Gene Symbol Spef1l
Ensembl Gene ENSMUSG00000073795
Gene Name sperm flagellar 1 like
Synonyms LOC381933, 6430531B16Rik
MMRRC Submission 044511-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R6361 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 139552216-139558668 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 139556585 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 134 (D134V)
Ref Sequence ENSEMBL: ENSMUSP00000147330 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026546] [ENSMUST00000097970] [ENSMUST00000106069] [ENSMUST00000121412] [ENSMUST00000209335] [ENSMUST00000210254]
AlphaFold Q3V2J1
Predicted Effect probably benign
Transcript: ENSMUST00000026546
SMART Domains Protein: ENSMUSP00000026546
Gene: ENSMUSG00000025473

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:Pep_M12B_propep 26 151 5.9e-35 PFAM
Pfam:Reprolysin_5 193 371 1e-22 PFAM
Pfam:Reprolysin_4 193 384 1.7e-16 PFAM
Pfam:Reprolysin 195 394 2.7e-70 PFAM
Pfam:Reprolysin_2 214 384 1.6e-16 PFAM
Pfam:Reprolysin_3 218 339 4.9e-21 PFAM
DISIN 411 486 5.16e-36 SMART
ACR 487 606 2.15e-35 SMART
EGF 613 642 3.06e-1 SMART
transmembrane domain 660 682 N/A INTRINSIC
low complexity region 732 762 N/A INTRINSIC
low complexity region 770 783 N/A INTRINSIC
low complexity region 784 812 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000097970
AA Change: D134V

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000095584
Gene: ENSMUSG00000073795
AA Change: D134V

DomainStartEndE-ValueType
Pfam:CH_2 22 118 3e-35 PFAM
Pfam:CAMSAP_CH 23 105 1.2e-21 PFAM
coiled coil region 237 276 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106069
SMART Domains Protein: ENSMUSP00000101684
Gene: ENSMUSG00000025473

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:Pep_M12B_propep 28 152 4e-30 PFAM
Pfam:Reprolysin_5 194 372 9.6e-23 PFAM
Pfam:Reprolysin_4 194 385 1.6e-16 PFAM
Pfam:Reprolysin 196 395 2.2e-73 PFAM
Pfam:Reprolysin_2 215 385 2.9e-18 PFAM
Pfam:Reprolysin_3 219 340 6.6e-21 PFAM
DISIN 412 487 5.16e-36 SMART
ACR 488 607 2.15e-35 SMART
EGF 614 643 3.06e-1 SMART
transmembrane domain 661 683 N/A INTRINSIC
low complexity region 733 763 N/A INTRINSIC
low complexity region 771 784 N/A INTRINSIC
low complexity region 785 813 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000121412
AA Change: D134V

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000113338
Gene: ENSMUSG00000073795
AA Change: D134V

DomainStartEndE-ValueType
Pfam:DUF1042 22 153 4.5e-35 PFAM
Pfam:CAMSAP_CH 23 105 1.3e-20 PFAM
low complexity region 230 246 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128332
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132903
Predicted Effect possibly damaging
Transcript: ENSMUST00000209335
AA Change: D134V

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000210254
AA Change: D134V

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146974
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139218
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156647
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.3%
Validation Efficiency 98% (43/44)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asap1 C T 15: 64,221,672 (GRCm39) probably null Het
Cabin1 G A 10: 75,562,699 (GRCm39) A29V possibly damaging Het
Cadps G A 14: 12,491,778 (GRCm38) Q791* probably null Het
Cdc14b T C 13: 64,364,023 (GRCm39) probably null Het
Cep89 C T 7: 35,097,472 (GRCm39) P33S probably damaging Het
Clec18a A G 8: 111,807,661 (GRCm39) probably benign Het
Cln5 T A 14: 103,313,637 (GRCm39) D296E probably benign Het
Col6a4 A T 9: 105,943,902 (GRCm39) S1191T probably benign Het
Crispld1 A G 1: 17,832,455 (GRCm39) I480M probably damaging Het
Dhrs7 A C 12: 72,711,433 (GRCm39) L32V probably damaging Het
Dscam T C 16: 96,424,011 (GRCm39) T1645A probably benign Het
Eif2b3 A G 4: 116,885,622 (GRCm39) T55A possibly damaging Het
Ercc6 T C 14: 32,239,067 (GRCm39) Y52H probably benign Het
Fam170b C A 14: 32,558,028 (GRCm39) Q288K unknown Het
Flt4 A G 11: 49,521,405 (GRCm39) T442A probably benign Het
Gm19402 A T 10: 77,525,895 (GRCm39) probably benign Het
Gm4841 A G 18: 60,403,832 (GRCm39) I87T probably damaging Het
Hspb7 A G 4: 141,149,860 (GRCm39) E82G possibly damaging Het
Itgb3 A G 11: 104,556,408 (GRCm39) K750E possibly damaging Het
Itsn2 A G 12: 4,679,655 (GRCm39) M155V probably benign Het
Marchf8 A T 6: 116,379,062 (GRCm39) D332V probably null Het
Mst1r A G 9: 107,793,052 (GRCm39) M1042V probably benign Het
Muc4 T C 16: 32,587,725 (GRCm39) F2756L probably benign Het
Myl6b T A 10: 128,333,078 (GRCm39) K55* probably null Het
Or1j19 A G 2: 36,676,792 (GRCm39) N85S probably damaging Het
Or4c123 A T 2: 89,126,990 (GRCm39) I208N probably damaging Het
Or4k51 G T 2: 111,584,940 (GRCm39) L115F probably damaging Het
Or7g18 T C 9: 18,787,027 (GRCm39) Y132H probably damaging Het
Or8g50 A C 9: 39,648,968 (GRCm39) N286H probably damaging Het
Pcca A G 14: 122,875,794 (GRCm39) D141G probably benign Het
Pkd2 C T 5: 104,634,546 (GRCm39) R526* probably null Het
Polr2a C A 11: 69,634,163 (GRCm39) A756S probably damaging Het
Prkd2 T C 7: 16,581,579 (GRCm39) S145P probably damaging Het
Rhbdf1 T C 11: 32,162,915 (GRCm39) N451D possibly damaging Het
Rundc3a G A 11: 102,291,621 (GRCm39) R358Q probably damaging Het
Spata31g1 A T 4: 42,972,695 (GRCm39) D676V probably benign Het
Tbc1d4 T C 14: 101,744,610 (GRCm39) K339E probably damaging Het
Usp37 A G 1: 74,493,052 (GRCm39) I723T probably benign Het
Vwa2 A T 19: 56,889,958 (GRCm39) probably null Het
Zdbf2 A C 1: 63,342,480 (GRCm39) R286S possibly damaging Het
Zfp422 G A 6: 116,603,781 (GRCm39) H73Y probably damaging Het
Zfp868 T C 8: 70,064,564 (GRCm39) H257R probably damaging Het
Zzef1 A G 11: 72,775,175 (GRCm39) S1723G possibly damaging Het
Other mutations in Spef1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00990:Spef1l APN 7 139,558,016 (GRCm39) missense probably damaging 1.00
IGL01900:Spef1l APN 7 139,552,483 (GRCm39) missense probably damaging 1.00
IGL03395:Spef1l APN 7 139,556,589 (GRCm39) splice site probably benign
R0562:Spef1l UTSW 7 139,557,026 (GRCm39) missense probably benign 0.01
R1121:Spef1l UTSW 7 139,556,543 (GRCm39) missense probably benign 0.00
R1474:Spef1l UTSW 7 139,556,555 (GRCm39) missense probably benign
R1844:Spef1l UTSW 7 139,556,005 (GRCm39) missense probably benign 0.06
R2680:Spef1l UTSW 7 139,558,474 (GRCm39) missense probably damaging 1.00
R3113:Spef1l UTSW 7 139,555,878 (GRCm39) splice site probably benign
R4478:Spef1l UTSW 7 139,555,773 (GRCm39) critical splice donor site probably null
R4576:Spef1l UTSW 7 139,558,043 (GRCm39) missense probably damaging 1.00
R4577:Spef1l UTSW 7 139,558,043 (GRCm39) missense probably damaging 1.00
R5037:Spef1l UTSW 7 139,558,587 (GRCm39) missense possibly damaging 0.84
R5935:Spef1l UTSW 7 139,556,526 (GRCm39) missense probably benign 0.37
R6314:Spef1l UTSW 7 139,556,402 (GRCm39) missense possibly damaging 0.92
R7326:Spef1l UTSW 7 139,558,458 (GRCm39) critical splice donor site probably null
R7386:Spef1l UTSW 7 139,555,965 (GRCm39) nonsense probably null
R7658:Spef1l UTSW 7 139,556,531 (GRCm39) missense probably benign
R8300:Spef1l UTSW 7 139,557,091 (GRCm39) missense probably damaging 1.00
R9250:Spef1l UTSW 7 139,556,395 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGGGAGTTCAACATCATGGAC -3'
(R):5'- CTGCTGATCTTCTGGAAGGG -3'

Sequencing Primer
(F):5'- ACATCATGGACCCAGCTTTCGG -3'
(R):5'- GAATTTCCTTTCCAGCCAAATCCAC -3'
Posted On 2018-04-27