Incidental Mutation 'R2680:Spef1l'
ID 250924
Institutional Source Beutler Lab
Gene Symbol Spef1l
Ensembl Gene ENSMUSG00000073795
Gene Name sperm flagellar 1 like
Synonyms LOC381933, 6430531B16Rik
MMRRC Submission 040433-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R2680 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 139552216-139558668 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 139558474 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 41 (D41G)
Ref Sequence ENSEMBL: ENSMUSP00000147330 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026546] [ENSMUST00000097970] [ENSMUST00000106069] [ENSMUST00000121412] [ENSMUST00000210254] [ENSMUST00000209335]
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 probably damaging
Transcript: ENSMUST00000097970
AA Change: D41G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095584
Gene: ENSMUSG00000073795
AA Change: D41G

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 probably damaging
Transcript: ENSMUST00000121412
AA Change: D41G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113338
Gene: ENSMUSG00000073795
AA Change: D41G

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 noncoding transcript
Transcript: ENSMUST00000146974
Predicted Effect probably damaging
Transcript: ENSMUST00000210254
AA Change: D41G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000209335
AA Change: D41G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139218
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156647
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
BC024139 A G 15: 76,005,939 (GRCm39) W421R probably damaging Het
Car11 T C 7: 45,351,909 (GRCm39) S113P probably benign Het
Ccdc146 C T 5: 21,510,267 (GRCm39) A582T possibly damaging Het
Cct8l1 A G 5: 25,722,133 (GRCm39) T283A probably benign Het
Ckap5 A G 2: 91,419,043 (GRCm39) I1118V probably benign Het
Copa C T 1: 171,948,971 (GRCm39) Q1199* probably null Het
Cpd A T 11: 76,681,825 (GRCm39) N1140K probably benign Het
Cspp1 A G 1: 10,174,530 (GRCm39) D661G probably damaging Het
Dab2 A G 15: 6,466,474 (GRCm39) Q729R possibly damaging Het
Dnah9 T C 11: 65,924,751 (GRCm39) I2168V probably benign Het
Dync1h1 G A 12: 110,609,681 (GRCm39) R2821H probably damaging Het
Ercc5 T C 1: 44,196,133 (GRCm39) V42A probably benign Het
Evc A G 5: 37,467,581 (GRCm39) V566A probably benign Het
Fcrl2 T C 3: 87,164,656 (GRCm39) Y290C probably damaging Het
Frmd4a A G 2: 4,539,364 (GRCm39) R171G probably damaging Het
Galnt17 G A 5: 131,140,661 (GRCm39) P152L probably damaging Het
Gfi1 A G 5: 107,869,297 (GRCm39) L245P probably damaging Het
Heatr4 T C 12: 84,027,237 (GRCm39) K7E possibly damaging Het
Ifit3b A G 19: 34,589,705 (GRCm39) N294D probably benign Het
Ift74 A G 4: 94,541,265 (GRCm39) Y230C probably damaging Het
Igsf10 C T 3: 59,232,875 (GRCm39) V1953I probably benign Het
Ikzf5 T C 7: 130,998,490 (GRCm39) D14G probably damaging Het
Il12rb2 T A 6: 67,331,789 (GRCm39) T259S possibly damaging Het
Itgae T A 11: 73,005,752 (GRCm39) D305E probably damaging Het
Kif23 A C 9: 61,844,758 (GRCm39) D90E probably benign Het
Kprp A G 3: 92,731,770 (GRCm39) F427L unknown Het
Lmnb1 T A 18: 56,864,177 (GRCm39) Y261N probably damaging Het
Megf8 T C 7: 25,016,981 (GRCm39) V17A probably benign Het
Mfap4 T C 11: 61,378,057 (GRCm39) Y190H probably benign Het
Mlh1 T C 9: 111,065,085 (GRCm39) probably null Het
Mocos C A 18: 24,809,686 (GRCm39) Q430K probably damaging Het
Ndst2 A G 14: 20,774,822 (GRCm39) F794L probably damaging Het
Nedd4l A T 18: 65,296,201 (GRCm39) I197F possibly damaging Het
Nefm A G 14: 68,361,235 (GRCm39) L343P probably damaging Het
Nfatc4 A G 14: 56,070,291 (GRCm39) probably benign Het
Nlrp4a T A 7: 26,148,655 (GRCm39) probably null Het
Nlrp4f A T 13: 65,342,157 (GRCm39) L496* probably null Het
Nom1 T C 5: 29,648,415 (GRCm39) F654S probably damaging Het
Or4k2 A T 14: 50,424,304 (GRCm39) Y123* probably null Het
Pcdhac2 A G 18: 37,278,639 (GRCm39) K540E possibly damaging Het
Pde4dip T C 3: 97,608,933 (GRCm39) N1974S possibly damaging Het
Pik3c3 T C 18: 30,477,131 (GRCm39) probably null Het
Pik3ca C T 3: 32,490,697 (GRCm39) R115* probably null Het
Pik3ca T C 3: 32,498,034 (GRCm39) I492T probably benign Het
Ppp1ca G A 19: 4,244,594 (GRCm39) E218K possibly damaging Het
Prex1 G T 2: 166,443,692 (GRCm39) D492E possibly damaging Het
Scaf8 T C 17: 3,247,866 (GRCm39) V1063A possibly damaging Het
Scn3a G T 2: 65,366,880 (GRCm39) N47K probably benign Het
Sec61a2 G T 2: 5,878,556 (GRCm39) N348K probably benign Het
Sh3rf2 A G 18: 42,234,715 (GRCm39) E166G probably damaging Het
Slc19a2 C A 1: 164,076,982 (GRCm39) T54K probably damaging Het
Slc8a3 T A 12: 81,249,113 (GRCm39) I765F probably damaging Het
Snap91 A T 9: 86,761,603 (GRCm39) M1K probably null Het
Strc T C 2: 121,195,592 (GRCm39) H1619R probably damaging Het
Tbl1xr1 C T 3: 22,245,615 (GRCm39) T207M possibly damaging Het
Tchp T C 5: 114,847,580 (GRCm39) probably null Het
Tln1 A T 4: 43,539,668 (GRCm39) F1581Y probably damaging Het
Tnxb T C 17: 34,922,594 (GRCm39) V2469A possibly damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Vmn1r225 T A 17: 20,723,055 (GRCm39) F165L probably benign Het
Vmn2r13 T C 5: 109,322,178 (GRCm39) D173G possibly damaging Het
Vmn2r6 A C 3: 64,445,707 (GRCm39) S673A possibly damaging Het
Vta1 G A 10: 14,581,171 (GRCm39) probably benign Het
Wwc1 T C 11: 35,766,756 (GRCm39) T500A probably benign Het
Zfp784 T A 7: 5,039,116 (GRCm39) Q147H 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
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
R6361:Spef1l UTSW 7 139,556,585 (GRCm39) missense possibly damaging 0.55
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'- AGGCCCTGTTTGCTACTACC -3'
(R):5'- CAATCCTTCCTGGGATCGAG -3'

Sequencing Primer
(F):5'- CTTTCCTAAGGAGCACGAGTCTG -3'
(R):5'- GTCTCCCAGCAACGGTC -3'
Posted On 2014-12-04