Incidental Mutation 'IGL02049:Ift56'
ID 185033
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ift56
Ensembl Gene ENSMUSG00000056832
Gene Name intraflagellar transport 56
Synonyms hpy, hydrocephalic-polydactyl, 9430097H08Rik, hop, Ttc26
Accession Numbers
Essential gene? Possibly essential (E-score: 0.578) question?
Stock # IGL02049
Quality Score
Status
Chromosome 6
Chromosomal Location 38358404-38404582 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 38402067 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 520 (T520A)
Ref Sequence ENSEMBL: ENSMUSP00000124369 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159145] [ENSMUST00000162554]
AlphaFold Q8BS45
Predicted Effect probably benign
Transcript: ENSMUST00000159145
SMART Domains Protein: ENSMUSP00000124873
Gene: ENSMUSG00000056832

DomainStartEndE-ValueType
low complexity region 19 29 N/A INTRINSIC
Pfam:TPR_2 58 88 1.2e-5 PFAM
Pfam:TPR_8 58 91 1.7e-3 PFAM
Pfam:TPR_1 61 87 4.6e-4 PFAM
Pfam:TPR_11 63 113 4.9e-11 PFAM
Pfam:TPR_19 67 113 3.1e-7 PFAM
Pfam:TPR_8 89 113 2e-3 PFAM
Pfam:TPR_1 91 113 1.7e-4 PFAM
Pfam:TPR_2 91 113 2.4e-3 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162554
AA Change: T520A

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000124369
Gene: ENSMUSG00000056832
AA Change: T520A

DomainStartEndE-ValueType
low complexity region 19 29 N/A INTRINSIC
Pfam:TPR_2 58 88 2.7e-5 PFAM
Pfam:TPR_11 63 117 9e-9 PFAM
Pfam:TPR_9 157 227 9.2e-4 PFAM
Blast:TPR 359 392 9e-10 BLAST
Blast:TPR 461 494 8e-15 BLAST
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a spontaneous nonsense mutation exhibit partial prenatal lethality, a hopping gait, preaxial polydactyly, male sterility due to lack of sperm flagella, impaired hearing, and patterning defects that are typical of impaired Hedgehog signaling. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568D16Rik T A 2: 35,254,801 (GRCm39) R27S probably benign Het
4930596D02Rik C A 14: 35,533,535 (GRCm39) V78L probably benign Het
Abca3 T A 17: 24,595,704 (GRCm39) C352* probably null Het
Acat3 T A 17: 13,144,207 (GRCm39) Y324F probably benign Het
Adamts8 T C 9: 30,862,650 (GRCm39) V285A probably damaging Het
Anpep A G 7: 79,484,929 (GRCm39) I652T probably damaging Het
Arhgef6 T A X: 56,321,271 (GRCm39) Q320L probably damaging Het
Armh1 A T 4: 117,094,860 (GRCm39) I60K probably benign Het
Atp11b T C 3: 35,854,642 (GRCm39) V145A probably damaging Het
Cacna1c T C 6: 118,580,880 (GRCm39) T1674A probably benign Het
Capn2 A T 1: 182,301,519 (GRCm39) probably benign Het
Cfd A G 10: 79,726,776 (GRCm39) Y6C probably benign Het
Cps1 A G 1: 67,183,113 (GRCm39) K157R possibly damaging Het
Csmd3 T A 15: 47,864,870 (GRCm39) R786S possibly damaging Het
Dna2 A T 10: 62,792,815 (GRCm39) I277L probably damaging Het
Gm5168 A T X: 25,999,005 (GRCm39) D50E probably damaging Het
Grik4 T A 9: 42,455,049 (GRCm39) probably benign Het
Iqgap2 A G 13: 95,811,913 (GRCm39) probably benign Het
Klk10 A T 7: 43,433,882 (GRCm39) probably benign Het
Kng1 A G 16: 22,892,187 (GRCm39) Y250C probably damaging Het
Las1l A T X: 94,981,059 (GRCm39) M690K probably benign Het
Mug1 T A 6: 121,848,295 (GRCm39) M673K probably benign Het
Myh9 T C 15: 77,654,070 (GRCm39) H1245R probably benign Het
Oprk1 C T 1: 5,669,067 (GRCm39) T171I probably damaging Het
Pgm5 A T 19: 24,801,782 (GRCm39) S149T probably benign Het
Pla2g4a T C 1: 149,736,847 (GRCm39) N424S probably benign Het
Plec A T 15: 76,063,149 (GRCm39) L2334Q probably damaging Het
Pus7l G A 15: 94,438,059 (GRCm39) S262F probably damaging Het
Rps24 C A 14: 24,541,823 (GRCm39) D3E probably benign Het
Rxfp1 T C 3: 79,557,799 (GRCm39) N560D probably damaging Het
Sema3c C T 5: 17,926,923 (GRCm39) probably benign Het
Slc47a2 A G 11: 61,233,365 (GRCm39) F55S probably damaging Het
Slco1a6 A G 6: 142,047,309 (GRCm39) probably benign Het
Taf4b A T 18: 14,963,196 (GRCm39) E645D probably benign Het
Tmem161a T A 8: 70,631,624 (GRCm39) V158E probably damaging Het
Trav13-2 A G 14: 53,872,604 (GRCm39) S27G possibly damaging Het
Trav13-2 G T 14: 53,872,603 (GRCm39) Q26H probably damaging Het
Trav13-2 A T 14: 53,872,602 (GRCm39) Q26L possibly damaging Het
Vmn2r108 T A 17: 20,691,608 (GRCm39) H305L probably benign Het
Zfp263 A G 16: 3,562,482 (GRCm39) I82V probably damaging Het
Other mutations in Ift56
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00927:Ift56 APN 6 38,359,155 (GRCm39) splice site probably benign
IGL02403:Ift56 APN 6 38,386,373 (GRCm39) missense possibly damaging 0.95
IGL02902:Ift56 APN 6 38,402,097 (GRCm39) missense probably benign 0.21
IGL03189:Ift56 APN 6 38,402,166 (GRCm39) missense probably benign 0.00
IGL03410:Ift56 APN 6 38,362,435 (GRCm39) missense probably damaging 1.00
R0346:Ift56 UTSW 6 38,386,370 (GRCm39) missense probably damaging 1.00
R0562:Ift56 UTSW 6 38,378,064 (GRCm39) missense probably damaging 1.00
R0826:Ift56 UTSW 6 38,402,049 (GRCm39) splice site probably null
R1212:Ift56 UTSW 6 38,387,728 (GRCm39) missense probably damaging 1.00
R1778:Ift56 UTSW 6 38,386,411 (GRCm39) missense possibly damaging 0.93
R1972:Ift56 UTSW 6 38,387,738 (GRCm39) missense probably benign 0.20
R2903:Ift56 UTSW 6 38,378,037 (GRCm39) missense possibly damaging 0.61
R2904:Ift56 UTSW 6 38,378,037 (GRCm39) missense possibly damaging 0.61
R2905:Ift56 UTSW 6 38,378,037 (GRCm39) missense possibly damaging 0.61
R3788:Ift56 UTSW 6 38,380,459 (GRCm39) critical splice donor site probably null
R4222:Ift56 UTSW 6 38,372,010 (GRCm39) missense probably damaging 1.00
R4392:Ift56 UTSW 6 38,358,492 (GRCm39) start gained probably benign
R4930:Ift56 UTSW 6 38,368,475 (GRCm39) missense probably damaging 1.00
R5484:Ift56 UTSW 6 38,366,057 (GRCm39) missense probably benign 0.10
R5920:Ift56 UTSW 6 38,389,005 (GRCm39) missense probably damaging 1.00
R6229:Ift56 UTSW 6 38,371,975 (GRCm39) missense probably benign 0.22
R6429:Ift56 UTSW 6 38,375,248 (GRCm39) missense possibly damaging 0.69
R6901:Ift56 UTSW 6 38,378,079 (GRCm39) missense possibly damaging 0.80
R7448:Ift56 UTSW 6 38,381,422 (GRCm39) nonsense probably null
R7554:Ift56 UTSW 6 38,362,435 (GRCm39) missense probably null 1.00
R7650:Ift56 UTSW 6 38,371,975 (GRCm39) missense probably benign 0.22
R8319:Ift56 UTSW 6 38,382,880 (GRCm39) missense probably damaging 0.98
R9270:Ift56 UTSW 6 38,366,109 (GRCm39) intron probably benign
R9417:Ift56 UTSW 6 38,386,386 (GRCm39) missense probably damaging 1.00
X0066:Ift56 UTSW 6 38,382,877 (GRCm39) missense probably benign 0.00
Posted On 2014-05-07