Incidental Mutation 'R4478:Spef1l'
ID 381216
Institutional Source Beutler Lab
Gene Symbol Spef1l
Ensembl Gene ENSMUSG00000073795
Gene Name sperm flagellar 1 like
Synonyms LOC381933, 6430531B16Rik
MMRRC Submission 041735-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R4478 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 139552216-139558668 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 139555773 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148257 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026546] [ENSMUST00000097970] [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 probably null
Transcript: ENSMUST00000097970
SMART Domains Protein: ENSMUSP00000095584
Gene: ENSMUSG00000073795

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 null
Transcript: ENSMUST00000097970
SMART Domains Protein: ENSMUSP00000095584
Gene: ENSMUSG00000073795

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 benign
Transcript: ENSMUST00000121412
SMART Domains Protein: ENSMUSP00000113338
Gene: ENSMUSG00000073795

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 probably null
Transcript: ENSMUST00000209335
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146974
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139218
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156647
Predicted Effect probably benign
Transcript: ENSMUST00000210254
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 94% (46/49)
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam3 T C 8: 25,185,171 (GRCm39) D509G probably benign Het
Ank1 C T 8: 23,610,594 (GRCm39) T1379I probably benign Het
Ap1m2 A G 9: 21,209,509 (GRCm39) V389A probably benign Het
Cdh15 A G 8: 123,591,415 (GRCm39) H517R probably benign Het
Chd9 T C 8: 91,760,659 (GRCm39) probably benign Het
Chp2 A G 7: 121,820,141 (GRCm39) D97G probably benign Het
Cpne5 T C 17: 29,428,450 (GRCm39) T118A probably damaging Het
D130040H23Rik C A 8: 69,755,155 (GRCm39) H187N possibly damaging Het
Dag1 G C 9: 108,085,929 (GRCm39) T404R probably damaging Het
Dnah3 T G 7: 119,671,086 (GRCm39) H599P probably benign Het
Eif4g1 G T 16: 20,497,593 (GRCm39) probably benign Het
Fabp9 T C 3: 10,262,166 (GRCm39) Y30C probably damaging Het
Fnbp1 G A 2: 30,995,266 (GRCm39) A56V probably damaging Het
Hid1 G A 11: 115,252,481 (GRCm39) A67V probably damaging Het
Il6ra T A 3: 89,797,597 (GRCm39) Y90F probably damaging Het
Kcnk18 T C 19: 59,223,676 (GRCm39) S274P probably damaging Het
Kndc1 A T 7: 139,500,600 (GRCm39) D655V probably damaging Het
Lrrk2 G A 15: 91,607,391 (GRCm39) A585T probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Myo9b A T 8: 71,743,725 (GRCm39) K262M probably damaging Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Or10aa1 C T 1: 173,870,182 (GRCm39) T222I probably benign Het
Or6c6b C T 10: 129,147,645 (GRCm39) L90F possibly damaging Het
Or8h10 G T 2: 86,808,562 (GRCm39) R193S probably benign Het
Plxna4 A T 6: 32,173,068 (GRCm39) C1288S possibly damaging Het
Ptpn22 T C 3: 103,809,380 (GRCm39) probably benign Het
Rab11fip3 C T 17: 26,235,057 (GRCm39) E619K probably damaging Het
Robo2 C A 16: 73,812,761 (GRCm39) R311L probably damaging Het
S2bpcox16 T C 12: 81,535,990 (GRCm39) probably benign Het
Sdad1 A G 5: 92,445,019 (GRCm39) M315T probably damaging Het
Slc39a12 T A 2: 14,424,990 (GRCm39) L407* probably null Het
Snap29 T C 16: 17,246,019 (GRCm39) V213A probably benign Het
Stard7 T A 2: 127,126,179 (GRCm39) L77Q probably damaging Het
Stat5b A G 11: 100,678,110 (GRCm39) Y668H probably benign Het
Tgfb2 A G 1: 186,364,696 (GRCm39) I266T probably damaging Het
Tmem87a C T 2: 120,199,824 (GRCm39) W440* probably null Het
Tnr T A 1: 159,712,326 (GRCm39) probably null Het
Ubl3 C T 5: 148,448,787 (GRCm39) S18N probably benign Het
Vmn2r68 TCC TC 7: 84,870,758 (GRCm39) probably null Het
Vmn2r9 T C 5: 108,994,143 (GRCm39) E502G probably benign Het
Vps8 A T 16: 21,363,986 (GRCm39) probably benign Het
Vwa8 T A 14: 79,106,241 (GRCm39) D61E probably benign Het
Wdr73 T C 7: 80,542,969 (GRCm39) E213G probably benign Het
Zfp1 A G 8: 112,397,175 (GRCm39) R366G probably damaging Het
Zfp282 A T 6: 47,867,630 (GRCm39) R269* probably null 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
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'- TCTGCCTCTGAGAAGGACTG -3'
(R):5'- AAAATGGGCTGCTGTGCTTG -3'

Sequencing Primer
(F):5'- GCCTGATGAATCACCATTGCTAGG -3'
(R):5'- GGGTGGACCTTTATCTCTCAAATTC -3'
Posted On 2016-04-20