Incidental Mutation 'R6749:Ift57'
ID 532910
Institutional Source Beutler Lab
Gene Symbol Ift57
Ensembl Gene ENSMUSG00000032965
Gene Name intraflagellar transport 57
Synonyms 4833420A15Rik, Esrrbl1, HIPPI, MHS4R2
MMRRC Submission 044866-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6749 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 49519657-49585489 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 49581347 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 209 (G209R)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046777] [ENSMUST00000142682]
AlphaFold Q8BXG3
Predicted Effect probably benign
Transcript: ENSMUST00000046777
AA Change: G338R

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000046645
Gene: ENSMUSG00000032965
AA Change: G338R

DomainStartEndE-ValueType
low complexity region 16 37 N/A INTRINSIC
Pfam:IFT57 44 401 2.1e-154 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140914
AA Change: G209R

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000116412
Gene: ENSMUSG00000032965
AA Change: G209R

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:IFT57 48 273 6.4e-84 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000142682
AA Change: G253R

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000117882
Gene: ENSMUSG00000032965
AA Change: G253R

DomainStartEndE-ValueType
Pfam:IFT57 1 272 5.5e-111 PFAM
Meta Mutation Damage Score 0.6767 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 100% (47/47)
MGI Phenotype PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality during organogenesis, abnormal left-right axis patterning, absence of embryonic cilia. random and delayed embryo turning, and abnormal neural tube development and morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk A G 11: 119,901,600 (GRCm39) V875A possibly damaging Het
Arhgef15 A T 11: 68,845,383 (GRCm39) F156L probably damaging Het
Bdh2 T A 3: 135,006,452 (GRCm39) S184T probably damaging Het
Bmp5 A T 9: 75,683,375 (GRCm39) M1L probably benign Het
Cacfd1 T C 2: 26,908,467 (GRCm39) Y134H probably damaging Het
Camk1 G A 6: 113,311,486 (GRCm39) P340L probably benign Het
Cdc14a T C 3: 116,090,807 (GRCm39) H424R possibly damaging Het
Cntfr T A 4: 41,663,232 (GRCm39) T192S possibly damaging Het
Erbin G T 13: 103,970,885 (GRCm39) S910R probably damaging Het
Esrp1 A T 4: 11,357,519 (GRCm39) V366E probably damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fsip2 T A 2: 82,808,738 (GRCm39) S1686T possibly damaging Het
Gata5 A G 2: 179,976,143 (GRCm39) L7S probably damaging Het
Hgf T A 5: 16,818,640 (GRCm39) probably null Het
Ift140 A G 17: 25,317,890 (GRCm39) E1458G probably damaging Het
Il12rb2 G T 6: 67,338,950 (GRCm39) probably benign Het
Krt78 G A 15: 101,859,358 (GRCm39) R280C probably damaging Het
Lipc A G 9: 70,730,668 (GRCm39) I88T probably damaging Het
Lrmda G T 14: 22,077,344 (GRCm39) R27L probably benign Het
Lrrc37a T G 11: 103,392,923 (GRCm39) E834A probably benign Het
Mmachc C A 4: 116,561,738 (GRCm39) R132L probably damaging Het
Myo10 T C 15: 25,714,196 (GRCm39) Y88H probably damaging Het
Myo5b G A 18: 74,834,574 (GRCm39) R878Q possibly damaging Het
Or2y1f A G 11: 49,184,877 (GRCm39) H243R probably damaging Het
Padi3 T C 4: 140,523,164 (GRCm39) T289A possibly damaging Het
Pcdhgb4 G T 18: 37,854,282 (GRCm39) A226S possibly damaging Het
Pde4c T C 8: 71,198,659 (GRCm39) V167A probably damaging Het
Pigr A G 1: 130,774,285 (GRCm39) T422A probably benign Het
Pmp2 T C 3: 10,247,542 (GRCm39) Y49C probably benign Het
Prpf39 A G 12: 65,103,048 (GRCm39) I441V possibly damaging Het
Ptprs A G 17: 56,744,884 (GRCm39) V284A probably damaging Het
Rsad1 T C 11: 94,434,166 (GRCm39) E354G probably damaging Het
Sema4b T A 7: 79,869,949 (GRCm39) D412E possibly damaging Het
Siglecg A G 7: 43,058,403 (GRCm39) I97V probably benign Het
Slc4a3 C T 1: 75,531,182 (GRCm39) R792* probably null Het
Slc6a20a A G 9: 123,466,135 (GRCm39) C569R probably damaging Het
Spata19 T C 9: 27,309,276 (GRCm39) V59A probably benign Het
Sult2a3 T A 7: 13,816,629 (GRCm39) Y183F probably benign Het
Tedc1 C T 12: 113,121,702 (GRCm39) T194M probably damaging Het
Tektl1 A C 10: 78,588,672 (GRCm39) M46R possibly damaging Het
Tmem63c T A 12: 87,122,439 (GRCm39) N412K probably damaging Het
Trav5-1 T C 14: 52,860,402 (GRCm39) I69T possibly damaging Het
Trim68 T C 7: 102,327,990 (GRCm39) D321G probably damaging Het
Ttn T C 2: 76,695,600 (GRCm39) probably benign Het
Vars2 A G 17: 35,977,605 (GRCm39) V109A probably damaging Het
Vmn2r96 C T 17: 18,818,352 (GRCm39) P643L probably damaging Het
Zfpm2 G T 15: 40,818,104 (GRCm39) V146F possibly damaging Het
Znfx1 T C 2: 166,898,519 (GRCm39) K135R probably benign Het
Other mutations in Ift57
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02476:Ift57 APN 16 49,584,252 (GRCm39) missense probably benign 0.39
R0636:Ift57 UTSW 16 49,532,259 (GRCm39) missense probably benign 0.27
R1552:Ift57 UTSW 16 49,579,716 (GRCm39) missense probably benign 0.09
R2172:Ift57 UTSW 16 49,579,703 (GRCm39) missense probably benign 0.03
R2885:Ift57 UTSW 16 49,584,114 (GRCm39) missense probably damaging 0.98
R4657:Ift57 UTSW 16 49,582,957 (GRCm39) splice site probably null
R4761:Ift57 UTSW 16 49,522,263 (GRCm39) missense probably damaging 1.00
R5726:Ift57 UTSW 16 49,519,861 (GRCm39) missense probably damaging 1.00
R5958:Ift57 UTSW 16 49,531,471 (GRCm39) intron probably benign
R6013:Ift57 UTSW 16 49,519,667 (GRCm39) splice site probably null
R6189:Ift57 UTSW 16 49,584,176 (GRCm39) missense probably damaging 1.00
R6390:Ift57 UTSW 16 49,582,836 (GRCm39) splice site probably null
R6862:Ift57 UTSW 16 49,584,167 (GRCm39) missense possibly damaging 0.49
R7073:Ift57 UTSW 16 49,584,230 (GRCm39) missense probably benign 0.10
R7379:Ift57 UTSW 16 49,581,357 (GRCm39) missense probably damaging 1.00
R7556:Ift57 UTSW 16 49,526,491 (GRCm39) missense probably benign 0.00
R8479:Ift57 UTSW 16 49,522,263 (GRCm39) missense probably damaging 1.00
R9011:Ift57 UTSW 16 49,579,777 (GRCm39) missense probably benign 0.34
R9313:Ift57 UTSW 16 49,557,085 (GRCm39) missense possibly damaging 0.88
R9392:Ift57 UTSW 16 49,584,174 (GRCm39) missense possibly damaging 0.86
Predicted Primers PCR Primer
(F):5'- TCACTTAAATGCATGGCGCC -3'
(R):5'- CCAAGAGAAGGATTATTGGTTCAC -3'

Sequencing Primer
(F):5'- TGCATGGCGCCTATTAATAAGGAC -3'
(R):5'- GGTTCACATGTTAGCGAACTTC -3'
Posted On 2018-08-29