Incidental Mutation 'R2172:Ift57'
ID 237583
Institutional Source Beutler Lab
Gene Symbol Ift57
Ensembl Gene ENSMUSG00000032965
Gene Name intraflagellar transport 57
Synonyms 4833420A15Rik, MHS4R2, HIPPI, Esrrbl1
MMRRC Submission 040174-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # R2172 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 49699233-49765126 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 49759340 bp (GRCm38)
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: 37,990,560 E441V probably damaging Het
Arfip2 T A 7: 105,637,988 D64V probably damaging Het
Atg9a C A 1: 75,185,685 R527L probably damaging Het
Atp1a1 T G 3: 101,590,548 I308L probably benign Het
Bcan T A 3: 87,996,581 Y199F probably damaging Het
Bsn T C 9: 108,109,992 probably benign Het
Ccdc158 A T 5: 92,632,508 L902H probably damaging Het
Dnah7b A G 1: 46,124,512 Y492C probably benign Het
Dnah9 G T 11: 66,072,779 H1783N probably damaging Het
Dpep2 A G 8: 105,988,998 V320A possibly damaging Het
Dsc2 A G 18: 20,045,502 Y282H probably damaging Het
Egfr C T 11: 16,911,562 P1114S probably benign Het
Fastkd1 A G 2: 69,700,133 S560P probably damaging Het
Gm10696 T G 3: 94,176,298 K69Q possibly damaging Het
Gm14295 G A 2: 176,811,102 R795Q possibly damaging Het
Gpr155 C T 2: 73,382,127 V51I probably benign Het
Gsap G A 5: 21,222,440 probably null Het
Hecw1 T A 13: 14,377,706 I103F probably damaging Het
Herc3 T A 6: 58,887,437 N685K probably damaging Het
Hnrnph1 T A 11: 50,382,816 D244E probably benign Het
Hydin A G 8: 110,582,049 E3989G probably benign Het
Ibsp T C 5: 104,310,430 Y278H probably damaging Het
Il15ra A G 2: 11,723,571 T149A possibly damaging Het
Ints5 C T 19: 8,896,282 T535I possibly damaging Het
Jarid2 T C 13: 44,902,539 L268P probably damaging Het
Klhdc7a T A 4: 139,965,810 T609S probably benign Het
Lrrc49 A G 9: 60,602,682 V429A probably benign Het
Lsm3 T C 6: 91,522,272 V87A possibly damaging Het
Man1c1 G C 4: 134,703,438 P11R probably damaging Het
Map1a G T 2: 121,307,932 V2726L probably damaging Het
Marveld3 A C 8: 109,961,846 S88A probably benign Het
Mcm9 T C 10: 53,548,574 D640G probably damaging Het
Mettl4 A G 17: 94,733,163 I399T probably benign Het
Mmp27 T A 9: 7,577,378 L274* probably null Het
Nacc2 A C 2: 26,060,223 D500E probably benign Het
Nprl3 T A 11: 32,234,894 M372L probably benign Het
Olfr478 A T 7: 108,031,467 I292N probably damaging Het
Otud7b T G 3: 96,153,520 probably null Het
Pcx G A 19: 4,620,881 R1070H probably benign Het
Ptprq C T 10: 107,590,994 W1560* probably null Het
Puf60 A T 15: 76,070,464 I520N probably damaging Het
Qars C T 9: 108,509,200 R143C probably damaging Het
Rfx3 G A 19: 27,815,494 Q322* probably null Het
Samd14 G T 11: 95,014,391 V10L probably benign Het
Setd2 G A 9: 110,549,844 R909Q probably benign Het
Sh2d4a T C 8: 68,296,664 S117P probably benign Het
Sharpin C A 15: 76,350,666 probably benign Het
Skor1 C A 9: 63,145,122 A494S possibly damaging Het
Slc41a2 T C 10: 83,283,774 T375A probably benign Het
Sparc G A 11: 55,395,801 Q324* probably null Het
Srebf1 T C 11: 60,206,502 T171A probably benign Het
Srrd A G 5: 112,341,122 I54T possibly damaging Het
Tecpr1 G T 5: 144,196,417 Q1072K probably damaging Het
Tecpr1 A T 5: 144,211,456 V377E probably benign Het
Tln1 T A 4: 43,545,721 H919L probably benign Het
Tm9sf3 C T 19: 41,217,420 S516N probably damaging Het
Trpa1 T A 1: 14,881,656 T940S probably benign Het
Trpv4 G A 5: 114,644,710 R64C probably damaging Het
Tufm A G 7: 126,488,847 E174G probably benign Het
Urb2 A G 8: 124,031,102 T1183A probably damaging Het
Virma A T 4: 11,527,843 M1245L possibly damaging Het
Vmn2r32 T C 7: 7,474,615 Y259C probably damaging Het
Zfp329 A G 7: 12,810,767 F277L probably damaging Het
Zfp683 C T 4: 134,055,795 T190I possibly damaging Het
Other mutations in Ift57
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02476:Ift57 APN 16 49763889 missense probably benign 0.39
R0636:Ift57 UTSW 16 49711896 missense probably benign 0.27
R1552:Ift57 UTSW 16 49759353 missense probably benign 0.09
R2885:Ift57 UTSW 16 49763751 missense probably damaging 0.98
R4657:Ift57 UTSW 16 49762594 splice site probably null
R4761:Ift57 UTSW 16 49701900 missense probably damaging 1.00
R5726:Ift57 UTSW 16 49699498 missense probably damaging 1.00
R5958:Ift57 UTSW 16 49711108 intron probably benign
R6013:Ift57 UTSW 16 49699304 splice site probably null
R6189:Ift57 UTSW 16 49763813 missense probably damaging 1.00
R6390:Ift57 UTSW 16 49762473 splice site probably null
R6749:Ift57 UTSW 16 49760984 missense probably benign 0.23
R6862:Ift57 UTSW 16 49763804 missense possibly damaging 0.49
R7073:Ift57 UTSW 16 49763867 missense probably benign 0.10
R7379:Ift57 UTSW 16 49760994 missense probably damaging 1.00
R7556:Ift57 UTSW 16 49706128 missense probably benign 0.00
R8479:Ift57 UTSW 16 49701900 missense probably damaging 1.00
R9011:Ift57 UTSW 16 49759414 missense probably benign 0.34
R9313:Ift57 UTSW 16 49736722 missense possibly damaging 0.88
R9392:Ift57 UTSW 16 49763811 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