Incidental Mutation 'R2172:Ift57'
ID 237583
Institutional Source Beutler Lab
Gene Symbol Ift57
Ensembl Gene ENSMUSG00000032965
Gene Name intraflagellar transport 57
Synonyms 4833420A15Rik, Esrrbl1, HIPPI, MHS4R2
MMRRC Submission 040174-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2172 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 49519657-49585489 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 49579703 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 291 (N291K)
Ref Sequence ENSEMBL: ENSMUSP00000046645 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046777] [ENSMUST00000142682]
AlphaFold Q8BXG3
Predicted Effect probably benign
Transcript: ENSMUST00000046777
AA Change: N291K

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000046645
Gene: ENSMUSG00000032965
AA Change: N291K

DomainStartEndE-ValueType
low complexity region 16 37 N/A INTRINSIC
Pfam:IFT57 44 401 2.1e-154 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127115
Predicted Effect unknown
Transcript: ENSMUST00000140914
AA Change: N162K
SMART Domains Protein: ENSMUSP00000116412
Gene: ENSMUSG00000032965
AA Change: N162K

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: N206K

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000117882
Gene: ENSMUSG00000032965
AA Change: N206K

DomainStartEndE-ValueType
Pfam:IFT57 1 272 5.5e-111 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arap3 T A 18: 38,123,613 (GRCm39) E441V probably damaging Het
Arfip2 T A 7: 105,287,195 (GRCm39) D64V probably damaging Het
Atg9a C A 1: 75,162,329 (GRCm39) R527L probably damaging Het
Atp1a1 T G 3: 101,497,864 (GRCm39) I308L probably benign Het
Bcan T A 3: 87,903,888 (GRCm39) Y199F probably damaging Het
Bsn T C 9: 107,987,191 (GRCm39) probably benign Het
Ccdc158 A T 5: 92,780,367 (GRCm39) L902H probably damaging Het
Dnah7b A G 1: 46,163,672 (GRCm39) Y492C probably benign Het
Dnah9 G T 11: 65,963,605 (GRCm39) H1783N probably damaging Het
Dpep2 A G 8: 106,715,630 (GRCm39) V320A possibly damaging Het
Dsc2 A G 18: 20,178,559 (GRCm39) Y282H probably damaging Het
Egfr C T 11: 16,861,562 (GRCm39) P1114S probably benign Het
Fastkd1 A G 2: 69,530,477 (GRCm39) S560P probably damaging Het
Gm14295 G A 2: 176,502,895 (GRCm39) R795Q possibly damaging Het
Gpr155 C T 2: 73,212,471 (GRCm39) V51I probably benign Het
Gsap G A 5: 21,427,438 (GRCm39) probably null Het
Hecw1 T A 13: 14,552,291 (GRCm39) I103F probably damaging Het
Herc3 T A 6: 58,864,422 (GRCm39) N685K probably damaging Het
Hnrnph1 T A 11: 50,273,643 (GRCm39) D244E probably benign Het
Hydin A G 8: 111,308,681 (GRCm39) E3989G probably benign Het
Ibsp T C 5: 104,458,296 (GRCm39) Y278H probably damaging Het
Il15ra A G 2: 11,728,382 (GRCm39) T149A possibly damaging Het
Ints5 C T 19: 8,873,646 (GRCm39) T535I possibly damaging Het
Jarid2 T C 13: 45,056,015 (GRCm39) L268P probably damaging Het
Klhdc7a T A 4: 139,693,121 (GRCm39) T609S probably benign Het
Lrrc49 A G 9: 60,509,965 (GRCm39) V429A probably benign Het
Lsm3 T C 6: 91,499,254 (GRCm39) V87A possibly damaging Het
Man1c1 G C 4: 134,430,749 (GRCm39) P11R probably damaging Het
Map1a G T 2: 121,138,413 (GRCm39) V2726L probably damaging Het
Marveld3 A C 8: 110,688,478 (GRCm39) S88A probably benign Het
Mcm9 T C 10: 53,424,670 (GRCm39) D640G probably damaging Het
Mettl4 A G 17: 95,040,591 (GRCm39) I399T probably benign Het
Mmp27 T A 9: 7,577,379 (GRCm39) L274* probably null Het
Nacc2 A C 2: 25,950,235 (GRCm39) D500E probably benign Het
Nprl3 T A 11: 32,184,894 (GRCm39) M372L probably benign Het
Or5p6 A T 7: 107,630,674 (GRCm39) I292N probably damaging Het
Otud7b T G 3: 96,060,837 (GRCm39) probably null Het
Pcx G A 19: 4,670,909 (GRCm39) R1070H probably benign Het
Ptprq C T 10: 107,426,855 (GRCm39) W1560* probably null Het
Puf60 A T 15: 75,942,313 (GRCm39) I520N probably damaging Het
Qars1 C T 9: 108,386,399 (GRCm39) R143C probably damaging Het
Rfx3 G A 19: 27,792,894 (GRCm39) Q322* probably null Het
Samd14 G T 11: 94,905,217 (GRCm39) V10L probably benign Het
Setd2 G A 9: 110,378,912 (GRCm39) R909Q probably benign Het
Sh2d4a T C 8: 68,749,316 (GRCm39) S117P probably benign Het
Sharpin C A 15: 76,234,866 (GRCm39) probably benign Het
Skor1 C A 9: 63,052,404 (GRCm39) A494S possibly damaging Het
Slc41a2 T C 10: 83,119,638 (GRCm39) T375A probably benign Het
Sparc G A 11: 55,286,627 (GRCm39) Q324* probably null Het
Spopfm2 T G 3: 94,083,605 (GRCm39) K69Q possibly damaging Het
Srebf1 T C 11: 60,097,328 (GRCm39) T171A probably benign Het
Srrd A G 5: 112,488,988 (GRCm39) I54T possibly damaging Het
Tecpr1 G T 5: 144,133,235 (GRCm39) Q1072K probably damaging Het
Tecpr1 A T 5: 144,148,274 (GRCm39) V377E probably benign Het
Tln1 T A 4: 43,545,721 (GRCm39) H919L probably benign Het
Tm9sf3 C T 19: 41,205,859 (GRCm39) S516N probably damaging Het
Trpa1 T A 1: 14,951,880 (GRCm39) T940S probably benign Het
Trpv4 G A 5: 114,782,771 (GRCm39) R64C probably damaging Het
Tufm A G 7: 126,088,019 (GRCm39) E174G probably benign Het
Urb2 A G 8: 124,757,841 (GRCm39) T1183A probably damaging Het
Virma A T 4: 11,527,843 (GRCm39) M1245L possibly damaging Het
Vmn2r32 T C 7: 7,477,614 (GRCm39) Y259C probably damaging Het
Zfp329 A G 7: 12,544,694 (GRCm39) F277L probably damaging Het
Zfp683 C T 4: 133,783,106 (GRCm39) T190I possibly damaging 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
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
R6749:Ift57 UTSW 16 49,581,347 (GRCm39) missense probably benign 0.23
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'- GGTGTGACTAAAGTGTTTCTCATC -3'
(R):5'- ATCTCACCCAGGGATCCATC -3'

Sequencing Primer
(F):5'- AGTGTTTCTCATCATAGAGTTTGTTG -3'
(R):5'- GGGATCCATCATATCCACCTCAAGTC -3'
Posted On 2014-10-02