Incidental Mutation 'IGL03410:Ift56'
ID 421732
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 # IGL03410
Quality Score
Status
Chromosome 6
Chromosomal Location 38358404-38404582 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38362435 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 70 (L70P)
Ref Sequence ENSEMBL: ENSMUSP00000124369 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159145] [ENSMUST00000160215] [ENSMUST00000161751] [ENSMUST00000162554]
AlphaFold Q8BS45
Predicted Effect probably damaging
Transcript: ENSMUST00000159145
AA Change: L70P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124873
Gene: ENSMUSG00000056832
AA Change: L70P

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 damaging
Transcript: ENSMUST00000160215
AA Change: L70P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125097
Gene: ENSMUSG00000056832
AA Change: L70P

DomainStartEndE-ValueType
low complexity region 19 29 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000161751
AA Change: L70P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124271
Gene: ENSMUSG00000056832
AA Change: L70P

DomainStartEndE-ValueType
low complexity region 19 29 N/A INTRINSIC
Pfam:TPR_2 58 88 1.3e-5 PFAM
Pfam:TPR_8 58 91 1.8e-3 PFAM
Pfam:TPR_6 59 87 2.6e-3 PFAM
Pfam:TPR_1 61 87 4.8e-4 PFAM
Pfam:TPR_11 63 115 4.1e-11 PFAM
Pfam:TPR_19 67 130 1.7e-7 PFAM
Pfam:TPR_8 89 113 2.1e-3 PFAM
Pfam:TPR_1 91 113 1.8e-4 PFAM
Pfam:TPR_2 91 113 2.5e-3 PFAM
Pfam:TPR_9 145 210 9.4e-4 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000162554
AA Change: L70P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124369
Gene: ENSMUSG00000056832
AA Change: L70P

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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T A 17: 9,220,728 (GRCm39) V409E probably damaging Het
1700086D15Rik A G 11: 65,043,393 (GRCm39) probably benign Het
Apba1 A G 19: 23,914,945 (GRCm39) N715S possibly damaging Het
Arfgef3 G T 10: 18,476,238 (GRCm39) A1527D probably damaging Het
Cmtm2a G T 8: 105,010,501 (GRCm39) P133T probably damaging Het
Cyp2d9 T C 15: 82,340,900 (GRCm39) V483A probably benign Het
Dclre1b T A 3: 103,715,456 (GRCm39) D14V probably damaging Het
Dock5 T C 14: 68,083,535 (GRCm39) I125V probably benign Het
Dok3 G T 13: 55,672,044 (GRCm39) Y211* probably null Het
Fat4 T C 3: 38,945,325 (GRCm39) V1406A probably damaging Het
Fbn2 A G 18: 58,183,315 (GRCm39) F1790S possibly damaging Het
Gm4787 A T 12: 81,425,948 (GRCm39) M70K probably damaging Het
Gulp1 A T 1: 44,747,777 (GRCm39) D10V probably damaging Het
Hagh T C 17: 25,079,916 (GRCm39) probably benign Het
Htt A G 5: 34,956,789 (GRCm39) E206G probably damaging Het
Hyou1 A G 9: 44,299,355 (GRCm39) E682G probably benign Het
Igkv4-59 G T 6: 69,415,450 (GRCm39) A35E probably damaging Het
Krt78 A G 15: 101,862,421 (GRCm39) V80A probably damaging Het
Lars2 G A 9: 123,247,841 (GRCm39) A333T possibly damaging Het
Lrrc4 G A 6: 28,830,515 (GRCm39) R367W probably damaging Het
Med1 A T 11: 98,080,009 (GRCm39) M44K possibly damaging Het
Mep1a T A 17: 43,788,986 (GRCm39) probably null Het
Mmrn1 A G 6: 60,952,819 (GRCm39) I367V probably benign Het
Myo18a T C 11: 77,738,830 (GRCm39) L1677P probably damaging Het
Neb T C 2: 52,209,717 (GRCm39) T246A probably benign Het
Nkiras1 A G 14: 18,280,073 (GRCm38) R155G probably benign Het
Nrip1 T C 16: 76,089,379 (GRCm39) N726S probably benign Het
Nyap2 A G 1: 81,219,156 (GRCm39) T393A possibly damaging Het
Oprm1 A T 10: 6,780,051 (GRCm39) I238F probably damaging Het
Or4b1b A G 2: 90,112,557 (GRCm39) Y121H probably damaging Het
Or4b1d G A 2: 89,969,489 (GRCm39) probably benign Het
Or5m11b T A 2: 85,805,764 (GRCm39) M59K probably damaging Het
Pcnx2 T A 8: 126,613,779 (GRCm39) E557D probably damaging Het
Pole A G 5: 110,472,425 (GRCm39) I1563V probably benign Het
Pramel21 C A 4: 143,341,851 (GRCm39) H93Q probably benign Het
Prdx3 T G 19: 60,859,848 (GRCm39) probably benign Het
Rgsl1 C T 1: 153,669,501 (GRCm39) R295K probably null Het
Rhbdl2 T A 4: 123,723,463 (GRCm39) L289* probably null Het
Rnps1 A G 17: 24,640,835 (GRCm39) probably benign Het
Rpgrip1 A G 14: 52,395,823 (GRCm39) probably benign Het
Ryr2 A T 13: 11,603,033 (GRCm39) Y4518N probably damaging Het
Scyl3 A G 1: 163,772,436 (GRCm39) N296S probably damaging Het
Sipa1l3 G A 7: 29,047,964 (GRCm39) T1308M probably damaging Het
Slc39a9 A G 12: 80,691,662 (GRCm39) D3G probably damaging Het
Slc4a9 A G 18: 36,662,740 (GRCm39) E165G probably benign Het
Slc6a3 A T 13: 73,686,776 (GRCm39) I48F probably benign Het
Stxbp3 C T 3: 108,709,476 (GRCm39) C354Y probably damaging Het
Terb1 C A 8: 105,199,674 (GRCm39) probably benign Het
Tfrc G A 16: 32,443,649 (GRCm39) probably null Het
Toporsl A C 4: 52,611,134 (GRCm39) R342S probably benign Het
Ube2d3 T A 3: 135,170,978 (GRCm39) W141R probably damaging Het
Vps13b G T 15: 35,910,486 (GRCm39) V3417L probably benign Het
Other mutations in Ift56
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00927:Ift56 APN 6 38,359,155 (GRCm39) splice site probably benign
IGL02049:Ift56 APN 6 38,402,067 (GRCm39) missense probably benign 0.16
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
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 2016-08-02