Incidental Mutation 'IGL02207:Ift140'
ID 284540
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ift140
Ensembl Gene ENSMUSG00000024169
Gene Name intraflagellar transport 140
Synonyms Tce5, Wdtc2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02207
Quality Score
Status
Chromosome 17
Chromosomal Location 25016091-25099495 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 25055598 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 748 (Y748C)
Ref Sequence ENSEMBL: ENSMUSP00000116163 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024983] [ENSMUST00000024984] [ENSMUST00000137386] [ENSMUST00000153745]
AlphaFold E9PY46
Predicted Effect probably benign
Transcript: ENSMUST00000024983
AA Change: Y748C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000024983
Gene: ENSMUSG00000024169
AA Change: Y748C

DomainStartEndE-ValueType
WD40 55 89 6.14e1 SMART
WD40 91 131 1.49e0 SMART
Blast:WD40 252 304 3e-15 BLAST
WD40 308 352 2.76e0 SMART
Blast:WD40 364 405 8e-17 BLAST
Blast:WD40 510 547 6e-13 BLAST
Blast:WD40 560 603 3e-7 BLAST
Blast:TPR 863 896 9e-13 BLAST
Blast:TPR 1011 1044 1e-13 BLAST
Blast:TPR 1377 1410 8e-13 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000024984
SMART Domains Protein: ENSMUSP00000024984
Gene: ENSMUSG00000024168

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
transmembrane domain 102 124 N/A INTRINSIC
transmembrane domain 139 161 N/A INTRINSIC
transmembrane domain 168 190 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000137386
AA Change: Y748C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000116163
Gene: ENSMUSG00000024169
AA Change: Y748C

DomainStartEndE-ValueType
WD40 55 89 6.14e1 SMART
WD40 91 131 1.49e0 SMART
Blast:WD40 252 304 3e-15 BLAST
WD40 308 352 2.76e0 SMART
Blast:WD40 364 405 1e-16 BLAST
Blast:WD40 510 547 5e-13 BLAST
Blast:WD40 560 603 3e-7 BLAST
Blast:TPR 863 896 8e-13 BLAST
Blast:TPR 1011 1044 9e-14 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140692
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142000
Predicted Effect probably benign
Transcript: ENSMUST00000153745
SMART Domains Protein: ENSMUSP00000119536
Gene: ENSMUSG00000024168

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
transmembrane domain 42 64 N/A INTRINSIC
transmembrane domain 71 93 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153895
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the subunits of the intraflagellar transport (IFT) complex A. Intraflagellar transport is involved in the genesis, resorption and signaling of primary cilia. The primary cilium is a microtubule-based sensory organelle at the surface of most quiescent mammalian cells, that receives signals from its environment, such as the flow of fluid, light or odors, and transduces those signals to the nucleus. Loss of the corresponding protein in mouse results in renal cystic disease. [provided by RefSeq, Jun 2012]
PHENOTYPE: Mice homozygous for a reporter knock-out allele die at mid-gestation. Mice homozygous for an ENU-induced mutation exhibit cardiovascular defects and situs abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110034G24Rik A T 2: 132,691,946 (GRCm38) probably benign Het
Adamtsl2 A G 2: 27,102,981 (GRCm38) E702G probably damaging Het
Adgre5 T C 8: 83,728,284 (GRCm38) T260A probably damaging Het
Agap3 A T 5: 24,499,936 (GRCm38) T660S probably benign Het
Amotl2 A T 9: 102,724,697 (GRCm38) E380V probably damaging Het
Ap4e1 A G 2: 127,011,816 (GRCm38) E58G probably damaging Het
Arap3 G A 18: 37,987,853 (GRCm38) A713V probably benign Het
B4galt2 T C 4: 117,881,521 (GRCm38) D33G probably damaging Het
Bbs7 A T 3: 36,604,490 (GRCm38) S212T probably benign Het
Ccl26 A G 5: 135,563,370 (GRCm38) Y38H probably benign Het
Ccne2 A T 4: 11,202,261 (GRCm38) S339C probably benign Het
Cd55 A G 1: 130,452,419 (GRCm38) V274A possibly damaging Het
Cenpw T G 10: 30,198,581 (GRCm38) probably null Het
Chrnb4 T C 9: 55,035,216 (GRCm38) D258G probably damaging Het
Col4a3bp T C 13: 96,624,792 (GRCm38) probably null Het
Commd3 T C 2: 18,674,008 (GRCm38) probably null Het
Csgalnact1 C A 8: 68,401,492 (GRCm38) G219V probably damaging Het
Cyp2b23 C A 7: 26,681,755 (GRCm38) R59L probably damaging Het
Edar G T 10: 58,610,521 (GRCm38) T194K probably damaging Het
Edem3 A G 1: 151,808,360 (GRCm38) I733V possibly damaging Het
Elmod2 T C 8: 83,321,506 (GRCm38) Y109C probably benign Het
Eps15 C T 4: 109,304,748 (GRCm38) probably benign Het
Fat4 T C 3: 38,951,263 (GRCm38) V1937A probably benign Het
Fdx1l T A 9: 21,068,119 (GRCm38) probably null Het
Flg2 A T 3: 93,220,128 (GRCm38) I2116F unknown Het
Gm15091 A G X: 149,977,466 (GRCm38) D424G possibly damaging Het
Gm16380 T A 9: 53,884,539 (GRCm38) noncoding transcript Het
Gm6614 A T 6: 141,990,432 (GRCm38) I309N possibly damaging Het
Gpn2 G A 4: 133,584,636 (GRCm38) V60M possibly damaging Het
Grip1 G A 10: 120,075,309 (GRCm38) R1044K probably damaging Het
H2-D1 T A 17: 35,263,414 (GRCm38) S37T possibly damaging Het
Havcr1 C T 11: 46,778,576 (GRCm38) A294V probably benign Het
Herc4 G A 10: 63,299,244 (GRCm38) probably null Het
Il20ra A G 10: 19,751,578 (GRCm38) T242A probably damaging Het
Ilvbl G A 10: 78,583,702 (GRCm38) probably null Het
Kif18a A T 2: 109,296,707 (GRCm38) I329L probably damaging Het
Kmt2a T A 9: 44,847,682 (GRCm38) I957F probably damaging Het
Krt1 A G 15: 101,848,616 (GRCm38) I282T possibly damaging Het
Lamb1 T G 12: 31,329,435 (GRCm38) V1768G probably damaging Het
Nek9 A T 12: 85,303,483 (GRCm38) L939* probably null Het
Nfe2l2 A G 2: 75,678,525 (GRCm38) L122P probably damaging Het
Nin T C 12: 70,056,657 (GRCm38) M270V probably damaging Het
Nlrp4a G T 7: 26,449,278 (GRCm38) K103N possibly damaging Het
Nrde2 T C 12: 100,130,931 (GRCm38) Y870C probably benign Het
Nsmce2 A G 15: 59,416,078 (GRCm38) M71V probably benign Het
Ocstamp T C 2: 165,397,663 (GRCm38) H201R possibly damaging Het
Olfr1126 A G 2: 87,457,450 (GRCm38) D95G probably benign Het
Olfr744 G A 14: 50,618,558 (GRCm38) G112D probably damaging Het
Oog4 T C 4: 143,438,940 (GRCm38) I212M probably benign Het
Osmr T C 15: 6,847,147 (GRCm38) T99A probably benign Het
Pdia4 A T 6: 47,796,807 (GRCm38) M536K probably benign Het
Pdyn A T 2: 129,688,518 (GRCm38) L77H probably damaging Het
Pikfyve T C 1: 65,251,678 (GRCm38) probably null Het
Plcb1 A G 2: 135,387,171 (GRCm38) E1105G probably damaging Het
Rb1 A T 14: 73,206,085 (GRCm38) D743E probably damaging Het
Rdh14 G A 12: 10,394,712 (GRCm38) V188I possibly damaging Het
Scd3 T C 19: 44,215,589 (GRCm38) V72A possibly damaging Het
Slc25a27 G A 17: 43,661,684 (GRCm38) R104W probably damaging Het
Slc29a4 A G 5: 142,718,885 (GRCm38) D394G possibly damaging Het
Snx29 T G 16: 11,738,352 (GRCm38) M407R probably damaging Het
Syf2 A G 4: 134,935,052 (GRCm38) probably null Het
Syn1 T C X: 20,865,137 (GRCm38) Q321R probably benign Het
Tbc1d12 A T 19: 38,916,647 (GRCm38) D602V probably damaging Het
Tenm4 A T 7: 96,874,116 (GRCm38) I1585F possibly damaging Het
Tgfbr1 A G 4: 47,410,785 (GRCm38) probably benign Het
Trav6-2 G A 14: 52,667,432 (GRCm38) V8M possibly damaging Het
Unc119b A G 5: 115,134,754 (GRCm38) S53P probably benign Het
Vmp1 T A 11: 86,607,193 (GRCm38) I299F possibly damaging Het
Xpot T C 10: 121,613,580 (GRCm38) Y194C probably damaging Het
Zbtb10 T A 3: 9,280,465 (GRCm38) probably null Het
Other mutations in Ift140
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00753:Ift140 APN 17 25,055,644 (GRCm38) missense probably damaging 1.00
IGL00966:Ift140 APN 17 25,018,802 (GRCm38) missense probably damaging 1.00
IGL01082:Ift140 APN 17 25,048,455 (GRCm38) missense possibly damaging 0.89
IGL01394:Ift140 APN 17 25,094,702 (GRCm38) missense probably benign 0.02
IGL01816:Ift140 APN 17 25,087,025 (GRCm38) splice site probably null
IGL01994:Ift140 APN 17 25,048,443 (GRCm38) missense probably damaging 1.00
IGL02102:Ift140 APN 17 25,033,130 (GRCm38) missense probably benign 0.03
IGL02493:Ift140 APN 17 25,087,924 (GRCm38) nonsense probably null
IGL02735:Ift140 APN 17 25,034,035 (GRCm38) splice site probably benign
IGL02902:Ift140 APN 17 25,090,762 (GRCm38) missense probably damaging 1.00
IGL03037:Ift140 APN 17 25,092,394 (GRCm38) missense probably benign 0.02
IGL03122:Ift140 APN 17 25,086,910 (GRCm38) missense probably damaging 1.00
IGL03206:Ift140 APN 17 25,092,826 (GRCm38) missense probably damaging 0.98
IGL03271:Ift140 APN 17 25,087,906 (GRCm38) missense probably damaging 1.00
IGL03358:Ift140 APN 17 25,087,984 (GRCm38) missense probably damaging 1.00
PIT4515001:Ift140 UTSW 17 25,086,860 (GRCm38) missense probably damaging 0.98
R0100:Ift140 UTSW 17 25,090,954 (GRCm38) nonsense probably null
R0100:Ift140 UTSW 17 25,090,954 (GRCm38) nonsense probably null
R0197:Ift140 UTSW 17 25,090,933 (GRCm38) missense probably benign 0.09
R0238:Ift140 UTSW 17 25,045,523 (GRCm38) nonsense probably null
R0238:Ift140 UTSW 17 25,045,523 (GRCm38) nonsense probably null
R0239:Ift140 UTSW 17 25,045,523 (GRCm38) nonsense probably null
R0239:Ift140 UTSW 17 25,045,523 (GRCm38) nonsense probably null
R0355:Ift140 UTSW 17 25,048,435 (GRCm38) nonsense probably null
R0399:Ift140 UTSW 17 25,050,340 (GRCm38) missense possibly damaging 0.77
R0574:Ift140 UTSW 17 25,051,760 (GRCm38) splice site probably null
R0610:Ift140 UTSW 17 25,035,803 (GRCm38) missense probably benign 0.06
R0701:Ift140 UTSW 17 25,090,933 (GRCm38) missense probably benign 0.09
R0883:Ift140 UTSW 17 25,090,933 (GRCm38) missense probably benign 0.09
R0900:Ift140 UTSW 17 25,035,812 (GRCm38) missense probably benign 0.22
R1167:Ift140 UTSW 17 25,035,745 (GRCm38) missense probably benign 0.01
R1295:Ift140 UTSW 17 25,088,933 (GRCm38) critical splice donor site probably null
R1588:Ift140 UTSW 17 25,087,985 (GRCm38) missense probably damaging 1.00
R1619:Ift140 UTSW 17 25,088,865 (GRCm38) missense probably damaging 1.00
R1637:Ift140 UTSW 17 25,025,634 (GRCm38) missense probably benign 0.40
R1854:Ift140 UTSW 17 25,035,839 (GRCm38) missense probably benign 0.05
R2397:Ift140 UTSW 17 25,020,736 (GRCm38) missense probably damaging 1.00
R2510:Ift140 UTSW 17 25,036,308 (GRCm38) missense probably benign 0.02
R2918:Ift140 UTSW 17 25,035,831 (GRCm38) missense possibly damaging 0.66
R3433:Ift140 UTSW 17 25,036,308 (GRCm38) missense probably benign 0.02
R3878:Ift140 UTSW 17 25,028,944 (GRCm38) missense probably benign 0.25
R4559:Ift140 UTSW 17 25,090,767 (GRCm38) missense probably damaging 0.97
R4670:Ift140 UTSW 17 25,098,961 (GRCm38) unclassified probably benign
R4711:Ift140 UTSW 17 25,094,717 (GRCm38) splice site probably null
R4934:Ift140 UTSW 17 25,048,488 (GRCm38) missense probably benign
R4949:Ift140 UTSW 17 25,094,665 (GRCm38) missense probably benign 0.06
R4982:Ift140 UTSW 17 25,036,994 (GRCm38) missense probably damaging 0.99
R5099:Ift140 UTSW 17 25,090,700 (GRCm38) missense probably damaging 1.00
R5223:Ift140 UTSW 17 25,035,812 (GRCm38) missense probably benign 0.22
R5268:Ift140 UTSW 17 25,020,627 (GRCm38) missense possibly damaging 0.48
R5423:Ift140 UTSW 17 25,033,085 (GRCm38) missense probably damaging 0.96
R5480:Ift140 UTSW 17 25,020,576 (GRCm38) missense probably damaging 1.00
R5655:Ift140 UTSW 17 25,045,064 (GRCm38) missense probably damaging 1.00
R5756:Ift140 UTSW 17 25,028,813 (GRCm38) missense possibly damaging 0.62
R5837:Ift140 UTSW 17 25,089,540 (GRCm38) missense probably damaging 1.00
R5894:Ift140 UTSW 17 25,033,919 (GRCm38) missense possibly damaging 0.92
R5907:Ift140 UTSW 17 25,092,371 (GRCm38) missense probably benign 0.02
R5966:Ift140 UTSW 17 25,094,761 (GRCm38) nonsense probably null
R6000:Ift140 UTSW 17 25,036,960 (GRCm38) missense probably benign 0.00
R6046:Ift140 UTSW 17 25,055,589 (GRCm38) missense probably benign 0.00
R6050:Ift140 UTSW 17 25,091,005 (GRCm38) missense probably damaging 1.00
R6103:Ift140 UTSW 17 25,093,126 (GRCm38) missense probably damaging 1.00
R6239:Ift140 UTSW 17 25,028,972 (GRCm38) missense probably benign 0.26
R6287:Ift140 UTSW 17 25,050,434 (GRCm38) missense probably benign
R6539:Ift140 UTSW 17 25,094,669 (GRCm38) missense possibly damaging 0.87
R6656:Ift140 UTSW 17 25,032,173 (GRCm38) missense probably damaging 0.96
R6723:Ift140 UTSW 17 25,033,116 (GRCm38) missense probably benign 0.08
R6749:Ift140 UTSW 17 25,098,916 (GRCm38) missense probably damaging 0.99
R6892:Ift140 UTSW 17 25,020,546 (GRCm38) missense possibly damaging 0.95
R7151:Ift140 UTSW 17 25,055,725 (GRCm38) missense probably damaging 1.00
R7235:Ift140 UTSW 17 25,020,645 (GRCm38) missense possibly damaging 0.88
R7424:Ift140 UTSW 17 25,037,036 (GRCm38) missense possibly damaging 0.81
R7552:Ift140 UTSW 17 25,033,115 (GRCm38) missense probably benign 0.02
R7560:Ift140 UTSW 17 25,092,341 (GRCm38) missense probably benign 0.28
R7660:Ift140 UTSW 17 25,051,824 (GRCm38) missense probably damaging 1.00
R8105:Ift140 UTSW 17 25,036,975 (GRCm38) missense probably benign 0.01
R8415:Ift140 UTSW 17 25,092,915 (GRCm38) missense probably damaging 0.99
R8437:Ift140 UTSW 17 25,094,677 (GRCm38) missense probably damaging 0.99
R8747:Ift140 UTSW 17 25,035,835 (GRCm38) missense probably benign
R8932:Ift140 UTSW 17 25,086,888 (GRCm38) missense probably benign 0.03
R9226:Ift140 UTSW 17 25,098,865 (GRCm38) missense probably benign 0.00
R9347:Ift140 UTSW 17 25,094,779 (GRCm38) missense probably benign 0.00
R9451:Ift140 UTSW 17 25,033,951 (GRCm38) missense probably benign 0.33
R9456:Ift140 UTSW 17 25,035,784 (GRCm38) missense probably benign 0.03
R9782:Ift140 UTSW 17 25,045,177 (GRCm38) critical splice donor site probably null
Posted On 2015-04-16