Incidental Mutation 'R1552:Ift57'
ID 170041
Institutional Source Beutler Lab
Gene Symbol Ift57
Ensembl Gene ENSMUSG00000032965
Gene Name intraflagellar transport 57
Synonyms 4833420A15Rik, Esrrbl1, HIPPI, MHS4R2
MMRRC Submission 039591-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1552 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 49519657-49585489 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 49579716 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 211 (T211A)
Ref Sequence ENSEMBL: ENSMUSP00000117882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046777] [ENSMUST00000142682]
AlphaFold Q8BXG3
Predicted Effect probably benign
Transcript: ENSMUST00000046777
AA Change: T296A

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000046645
Gene: ENSMUSG00000032965
AA Change: T296A

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: T167A
SMART Domains Protein: ENSMUSP00000116412
Gene: ENSMUSG00000032965
AA Change: T167A

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: T211A

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000117882
Gene: ENSMUSG00000032965
AA Change: T211A

DomainStartEndE-ValueType
Pfam:IFT57 1 272 5.5e-111 PFAM
Meta Mutation Damage Score 0.0899 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.7%
Validation Efficiency 97% (71/73)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 T A 16: 20,217,617 (GRCm39) I365F probably damaging Het
Abhd15 T C 11: 77,406,233 (GRCm39) L70P probably damaging Het
Adam18 A C 8: 25,136,377 (GRCm39) H381Q probably benign Het
Ankfy1 T C 11: 72,645,321 (GRCm39) probably null Het
Arcn1 C T 9: 44,670,291 (GRCm39) A112T probably damaging Het
Bltp3a T C 17: 28,109,045 (GRCm39) F1088S possibly damaging Het
Calhm1 C T 19: 47,129,640 (GRCm39) R294H probably benign Het
Ccdc121rt1 A G 1: 181,338,556 (GRCm39) L132P probably damaging Het
Cdk5rap1 T C 2: 154,212,615 (GRCm39) E81G probably benign Het
Cep170 T C 1: 176,610,060 (GRCm39) probably benign Het
Cep350 C T 1: 155,786,484 (GRCm39) R1454Q possibly damaging Het
Chrna3 C A 9: 54,923,192 (GRCm39) E205D probably benign Het
Chst5 T C 8: 112,616,912 (GRCm39) D236G probably damaging Het
Coro1a T C 7: 126,299,124 (GRCm39) N367D probably benign Het
Cyp3a16 T C 5: 145,373,346 (GRCm39) I474V probably benign Het
Cyth3 G A 5: 143,683,505 (GRCm39) V87I probably benign Het
Dclk3 C A 9: 111,317,647 (GRCm39) T761K probably damaging Het
Dvl2 T A 11: 69,897,198 (GRCm39) M300K possibly damaging Het
Eefsec C T 6: 88,353,182 (GRCm39) probably benign Het
Exog T C 9: 119,274,176 (GRCm39) S54P unknown Het
Fasn A G 11: 120,709,384 (GRCm39) S519P probably damaging Het
Gas8 G A 8: 124,247,385 (GRCm39) A16T probably benign Het
Got2 A G 8: 96,596,122 (GRCm39) S333P probably benign Het
Hadhb T A 5: 30,381,931 (GRCm39) L287Q probably null Het
Il1rap A G 16: 26,541,184 (GRCm39) E475G possibly damaging Het
Ilkap A T 1: 91,312,316 (GRCm39) D11E probably damaging Het
Impact T C 18: 13,117,337 (GRCm39) S137P probably benign Het
Jarid2 T C 13: 45,064,675 (GRCm39) V920A probably damaging Het
Kcnk18 A T 19: 59,223,890 (GRCm39) H345L probably damaging Het
Kdm4d A T 9: 14,375,325 (GRCm39) Y178N probably damaging Het
Klk1b1 A G 7: 43,618,767 (GRCm39) Y48C probably damaging Het
Klra5 G T 6: 129,886,848 (GRCm39) T60K probably damaging Het
Kng2 A T 16: 22,806,270 (GRCm39) L643H probably damaging Het
Lamb3 A G 1: 193,013,067 (GRCm39) probably null Het
Lingo2 A G 4: 35,708,315 (GRCm39) V555A probably damaging Het
Mbd5 T C 2: 49,162,946 (GRCm39) S251P probably damaging Het
Mc4r T C 18: 66,992,766 (GRCm39) S116G probably benign Het
Mipol1 T C 12: 57,352,874 (GRCm39) V71A possibly damaging Het
Myo15b A C 11: 115,757,461 (GRCm39) S1104R probably benign Het
Nek1 T A 8: 61,459,771 (GRCm39) D26E probably damaging Het
Neu1 C T 17: 35,151,089 (GRCm39) probably benign Het
Npffr2 T C 5: 89,730,975 (GRCm39) S302P possibly damaging Het
Or8b48 T C 9: 38,492,675 (GRCm39) M34T probably benign Het
Palmd T A 3: 116,741,689 (GRCm39) probably benign Het
Pcdh8 A T 14: 80,008,047 (GRCm39) V172E probably benign Het
Pnpla6 C A 8: 3,572,403 (GRCm39) Q291K probably damaging Het
Pou2af2 T A 9: 51,202,870 (GRCm39) S95C probably damaging Het
Prkch T C 12: 73,749,320 (GRCm39) F357L probably benign Het
Ptprj A T 2: 90,301,497 (GRCm39) Y212N probably damaging Het
Reln G T 5: 22,165,376 (GRCm39) H2061N probably benign Het
Rint1 T A 5: 24,005,656 (GRCm39) S113T probably benign Het
Rnf38 G C 4: 44,142,468 (GRCm39) probably null Het
Slc30a4 T A 2: 122,527,936 (GRCm39) I374L probably benign Het
Slfn10-ps T C 11: 82,920,676 (GRCm39) noncoding transcript Het
Smcp A T 3: 92,491,710 (GRCm39) C46S unknown Het
Smu1 A C 4: 40,748,570 (GRCm39) V240G probably damaging Het
Srsf5 A G 12: 80,996,519 (GRCm39) probably benign Het
Stn1 T C 19: 47,524,812 (GRCm39) probably null Het
Stx18 A G 5: 38,262,335 (GRCm39) E63G probably damaging Het
Tas2r130 A G 6: 131,607,130 (GRCm39) Y222H probably benign Het
Tescl G T 7: 24,032,758 (GRCm39) P189Q probably benign Het
Tlr1 A G 5: 65,084,203 (GRCm39) S125P probably damaging Het
Ugt2a2 G T 5: 87,609,880 (GRCm39) D566E possibly damaging Het
Unc13b A T 4: 43,237,144 (GRCm39) T3405S probably damaging Het
Upf1 G A 8: 70,785,709 (GRCm39) Q1046* probably null Het
Wwox T A 8: 115,172,090 (GRCm39) Y61* probably null Het
Zfhx4 C T 3: 5,468,170 (GRCm39) T2776M probably damaging Het
Zranb3 G A 1: 127,888,488 (GRCm39) 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
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
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'- GGGAACAAGAGATCGCTCACACTAC -3'
(R):5'- GAAATGAGACACGGAATCCTGACACTC -3'

Sequencing Primer
(F):5'- ttcccttgcttcagcctc -3'
(R):5'- AAGTGGAGGCCCTCTCTTG -3'
Posted On 2014-04-13