Incidental Mutation 'IGL03349:Ift172'
ID 419632
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ift172
Ensembl Gene ENSMUSG00000038564
Gene Name intraflagellar transport 172
Synonyms 4930553F24Rik, wim, avc1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03349
Quality Score
Status
Chromosome 5
Chromosomal Location 31410623-31448458 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 31441474 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 220 (V220E)
Ref Sequence ENSEMBL: ENSMUSP00000049335 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041565] [ENSMUST00000201809]
AlphaFold Q6VH22
Predicted Effect probably benign
Transcript: ENSMUST00000041565
AA Change: V220E

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000049335
Gene: ENSMUSG00000038564
AA Change: V220E

DomainStartEndE-ValueType
WD40 2 44 6e-3 SMART
WD40 55 94 2.22e0 SMART
WD40 102 139 1.23e2 SMART
WD40 141 180 4.6e0 SMART
WD40 186 223 3.3e1 SMART
WD40 225 267 4.42e1 SMART
WD40 279 314 1.03e1 SMART
Blast:WD40 516 550 5e-13 BLAST
low complexity region 573 588 N/A INTRINSIC
internal_repeat_1 625 1026 1.7e-10 PROSPERO
Blast:TPR 1029 1062 2e-13 BLAST
low complexity region 1077 1091 N/A INTRINSIC
internal_repeat_1 1101 1498 1.7e-10 PROSPERO
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201274
Predicted Effect probably benign
Transcript: ENSMUST00000201809
SMART Domains Protein: ENSMUSP00000144425
Gene: ENSMUSG00000038564

DomainStartEndE-ValueType
WD40 2 44 3.8e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202410
Predicted Effect probably benign
Transcript: ENSMUST00000202589
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 a subunit of the intraflagellar transport subcomplex IFT-B. Subcomplexes IFT-A and IFT-B are necessary for ciliary assembly and maintenance. Mutations in this gene have been associated with skeletal ciliopathies, with or without polydactyly, such as such short-rib thoracic dysplasias 1, 9 or 10. [provided by RefSeq, Mar 2014]
PHENOTYPE: Mice homozygous for disruptions in this gene display embryonic lethality during organogenesis, neural tube defects, and developmental patterning abnormalities. Mice homozygous for a conditional allele activated in the early limb bud exhibit polydactyly and short limbs. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,629,455 (GRCm39) Y3648H probably benign Het
Akr1c20 T A 13: 4,558,249 (GRCm39) R172* probably null Het
Apba1 A T 19: 23,894,939 (GRCm39) E458D probably benign Het
Atg2a T A 19: 6,308,054 (GRCm39) V1590D possibly damaging Het
Atp13a4 A G 16: 29,275,489 (GRCm39) S332P probably benign Het
Atp8b2 A T 3: 89,865,124 (GRCm39) F163I probably damaging Het
Azin2 A T 4: 128,839,907 (GRCm39) Y228* probably null Het
Cd109 C T 9: 78,543,767 (GRCm39) H104Y probably benign Het
Ces2a G T 8: 105,460,712 (GRCm39) L3F probably damaging Het
Crebbp A G 16: 3,935,222 (GRCm39) V889A possibly damaging Het
Crim1 A T 17: 78,662,579 (GRCm39) K801* probably null Het
Cxcr1 T C 1: 74,231,687 (GRCm39) T112A possibly damaging Het
Cyp1a2 A G 9: 57,587,158 (GRCm39) S378P possibly damaging Het
Cyp2c67 T C 19: 39,632,128 (GRCm39) Y80C probably damaging Het
Dennd4a T C 9: 64,796,256 (GRCm39) W761R probably damaging Het
Dgki C T 6: 37,074,562 (GRCm39) probably null Het
Dnase1l3 T C 14: 7,984,146 (GRCm38) T89A probably benign Het
Dock4 C A 12: 40,783,309 (GRCm39) Q748K probably benign Het
Elmo3 A G 8: 106,033,020 (GRCm39) E68G possibly damaging Het
Fer1l4 C A 2: 155,886,654 (GRCm39) E692* probably null Het
Fkbp9 T A 6: 56,826,703 (GRCm39) M101K probably damaging Het
Grin1 C A 2: 25,200,448 (GRCm39) V225L probably benign Het
Gucy2d T C 7: 98,099,048 (GRCm39) V288A possibly damaging Het
Heatr5b C A 17: 79,062,749 (GRCm39) K1933N probably benign Het
Hsdl1 A T 8: 120,292,436 (GRCm39) S260T probably benign Het
Hspg2 T C 4: 137,287,833 (GRCm39) probably benign Het
Igkv12-47 C T 6: 69,727,850 (GRCm39) noncoding transcript Het
Ism1 C T 2: 139,573,895 (GRCm39) R82* probably null Het
Lrch3 A G 16: 32,775,694 (GRCm39) T187A probably damaging Het
Ltbr T A 6: 125,289,329 (GRCm39) D160V probably damaging Het
Lypd11 T A 7: 24,422,261 (GRCm39) S163C probably damaging Het
Mark3 A T 12: 111,594,684 (GRCm39) K353I probably benign Het
Mrm3 A T 11: 76,140,772 (GRCm39) H260L probably damaging Het
Nckap1 T C 2: 80,355,904 (GRCm39) Q627R probably benign Het
Neb T A 2: 52,168,964 (GRCm39) Y1857F possibly damaging Het
Ntsr1 A G 2: 180,142,295 (GRCm39) T29A probably benign Het
Ofcc1 C T 13: 40,226,228 (GRCm39) G768D probably benign Het
Or5k17 T C 16: 58,746,323 (GRCm39) M204V probably benign Het
Pde8b T C 13: 95,179,551 (GRCm39) probably benign Het
Pld4 A T 12: 112,734,313 (GRCm39) Q393L probably benign Het
Prss23 T C 7: 89,159,065 (GRCm39) I335V probably benign Het
Prune2 A G 19: 17,100,710 (GRCm39) I2071M probably damaging Het
Ptprz1 T A 6: 23,000,331 (GRCm39) V807E probably damaging Het
Rnf20 G A 4: 49,655,936 (GRCm39) A961T probably damaging Het
Slc25a24 A G 3: 109,056,865 (GRCm39) Q126R possibly damaging Het
Slc35e1 A T 8: 73,237,696 (GRCm39) Y382N probably damaging Het
Snrpn C T 7: 59,635,613 (GRCm39) G129D probably damaging Het
Spag9 A T 11: 93,984,335 (GRCm39) N386I possibly damaging Het
Ssna1 T C 2: 25,161,542 (GRCm39) N102D possibly damaging Het
Tex21 A T 12: 76,268,365 (GRCm39) I139N probably benign Het
Trgc2 T A 13: 19,489,346 (GRCm39) T129S probably benign Het
Trim21 T C 7: 102,212,484 (GRCm39) T161A probably benign Het
Vmn2r82 T A 10: 79,213,703 (GRCm39) H96Q probably benign Het
Other mutations in Ift172
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00476:Ift172 APN 5 31,433,240 (GRCm39) missense probably damaging 1.00
IGL01399:Ift172 APN 5 31,423,592 (GRCm39) missense probably benign
IGL01405:Ift172 APN 5 31,419,196 (GRCm39) nonsense probably null
IGL01562:Ift172 APN 5 31,424,591 (GRCm39) missense probably damaging 0.97
IGL01758:Ift172 APN 5 31,438,058 (GRCm39) missense probably benign
IGL01792:Ift172 APN 5 31,434,215 (GRCm39) missense probably damaging 1.00
IGL01830:Ift172 APN 5 31,442,636 (GRCm39) missense probably damaging 1.00
IGL01839:Ift172 APN 5 31,423,694 (GRCm39) missense probably damaging 1.00
IGL02007:Ift172 APN 5 31,443,948 (GRCm39) missense probably benign 0.17
IGL02172:Ift172 APN 5 31,438,681 (GRCm39) splice site probably benign
IGL02190:Ift172 APN 5 31,411,802 (GRCm39) missense possibly damaging 0.51
IGL02334:Ift172 APN 5 31,440,402 (GRCm39) missense probably benign 0.00
IGL02486:Ift172 APN 5 31,414,927 (GRCm39) missense probably damaging 1.00
IGL02517:Ift172 APN 5 31,410,992 (GRCm39) splice site probably null
IGL02571:Ift172 APN 5 31,415,235 (GRCm39) missense probably damaging 1.00
IGL02626:Ift172 APN 5 31,421,840 (GRCm39) missense probably benign
IGL03183:Ift172 APN 5 31,429,348 (GRCm39) missense probably benign 0.06
IGL03277:Ift172 APN 5 31,424,642 (GRCm39) missense possibly damaging 0.92
ostinato UTSW 5 31,434,284 (GRCm39) missense probably benign 0.10
pushback UTSW 5 31,444,289 (GRCm39) missense probably damaging 1.00
P0042:Ift172 UTSW 5 31,418,799 (GRCm39) missense probably benign 0.35
PIT4802001:Ift172 UTSW 5 31,442,610 (GRCm39) missense probably benign 0.03
R0153:Ift172 UTSW 5 31,417,968 (GRCm39) missense probably benign
R0328:Ift172 UTSW 5 31,421,195 (GRCm39) nonsense probably null
R0357:Ift172 UTSW 5 31,415,244 (GRCm39) missense possibly damaging 0.51
R0369:Ift172 UTSW 5 31,410,985 (GRCm39) missense probably damaging 1.00
R0391:Ift172 UTSW 5 31,444,011 (GRCm39) missense probably damaging 1.00
R0512:Ift172 UTSW 5 31,442,821 (GRCm39) missense possibly damaging 0.92
R0546:Ift172 UTSW 5 31,414,945 (GRCm39) missense probably benign 0.14
R0553:Ift172 UTSW 5 31,433,186 (GRCm39) splice site probably benign
R0606:Ift172 UTSW 5 31,411,657 (GRCm39) missense probably damaging 0.99
R0834:Ift172 UTSW 5 31,414,715 (GRCm39) missense probably benign
R0973:Ift172 UTSW 5 31,415,262 (GRCm39) unclassified probably benign
R0973:Ift172 UTSW 5 31,422,699 (GRCm39) missense probably benign
R1189:Ift172 UTSW 5 31,443,174 (GRCm39) critical splice acceptor site probably null
R1205:Ift172 UTSW 5 31,443,136 (GRCm39) missense probably benign
R1289:Ift172 UTSW 5 31,438,320 (GRCm39) missense probably damaging 0.98
R1342:Ift172 UTSW 5 31,419,210 (GRCm39) missense probably benign
R1395:Ift172 UTSW 5 31,442,582 (GRCm39) unclassified probably benign
R1417:Ift172 UTSW 5 31,413,993 (GRCm39) missense probably damaging 1.00
R2020:Ift172 UTSW 5 31,424,585 (GRCm39) nonsense probably null
R2111:Ift172 UTSW 5 31,443,423 (GRCm39) missense probably benign 0.04
R2175:Ift172 UTSW 5 31,424,029 (GRCm39) missense probably damaging 1.00
R2509:Ift172 UTSW 5 31,420,312 (GRCm39) missense probably benign
R2870:Ift172 UTSW 5 31,415,205 (GRCm39) missense probably benign 0.00
R2870:Ift172 UTSW 5 31,415,205 (GRCm39) missense probably benign 0.00
R2871:Ift172 UTSW 5 31,415,205 (GRCm39) missense probably benign 0.00
R2871:Ift172 UTSW 5 31,415,205 (GRCm39) missense probably benign 0.00
R2872:Ift172 UTSW 5 31,415,205 (GRCm39) missense probably benign 0.00
R2872:Ift172 UTSW 5 31,415,205 (GRCm39) missense probably benign 0.00
R3705:Ift172 UTSW 5 31,418,781 (GRCm39) critical splice donor site probably null
R3793:Ift172 UTSW 5 31,414,925 (GRCm39) missense possibly damaging 0.61
R4385:Ift172 UTSW 5 31,444,311 (GRCm39) missense probably damaging 1.00
R4477:Ift172 UTSW 5 31,422,781 (GRCm39) missense probably benign 0.38
R4590:Ift172 UTSW 5 31,411,299 (GRCm39) missense probably damaging 1.00
R4663:Ift172 UTSW 5 31,441,559 (GRCm39) missense probably benign 0.01
R4665:Ift172 UTSW 5 31,442,598 (GRCm39) missense possibly damaging 0.82
R4977:Ift172 UTSW 5 31,429,460 (GRCm39) missense possibly damaging 0.79
R5109:Ift172 UTSW 5 31,423,330 (GRCm39) missense probably benign 0.06
R5182:Ift172 UTSW 5 31,424,958 (GRCm39) missense possibly damaging 0.51
R5343:Ift172 UTSW 5 31,421,156 (GRCm39) missense probably benign 0.05
R5465:Ift172 UTSW 5 31,418,862 (GRCm39) splice site probably null
R5622:Ift172 UTSW 5 31,440,426 (GRCm39) missense probably damaging 1.00
R5718:Ift172 UTSW 5 31,412,621 (GRCm39) missense possibly damaging 0.94
R5793:Ift172 UTSW 5 31,434,292 (GRCm39) missense possibly damaging 0.96
R5870:Ift172 UTSW 5 31,434,284 (GRCm39) missense probably benign 0.10
R5919:Ift172 UTSW 5 31,418,006 (GRCm39) missense possibly damaging 0.63
R5968:Ift172 UTSW 5 31,418,828 (GRCm39) missense probably damaging 1.00
R6112:Ift172 UTSW 5 31,414,241 (GRCm39) missense probably benign
R6339:Ift172 UTSW 5 31,444,289 (GRCm39) missense probably damaging 1.00
R6339:Ift172 UTSW 5 31,413,927 (GRCm39) missense probably benign 0.00
R6355:Ift172 UTSW 5 31,441,501 (GRCm39) missense probably benign 0.33
R6565:Ift172 UTSW 5 31,433,227 (GRCm39) missense possibly damaging 0.68
R6668:Ift172 UTSW 5 31,412,683 (GRCm39) missense probably benign 0.00
R6755:Ift172 UTSW 5 31,418,342 (GRCm39) nonsense probably null
R6818:Ift172 UTSW 5 31,423,304 (GRCm39) missense probably benign 0.01
R6939:Ift172 UTSW 5 31,414,930 (GRCm39) missense probably damaging 1.00
R6980:Ift172 UTSW 5 31,414,730 (GRCm39) missense probably benign
R7047:Ift172 UTSW 5 31,433,238 (GRCm39) nonsense probably null
R7156:Ift172 UTSW 5 31,429,419 (GRCm39) missense probably damaging 1.00
R7180:Ift172 UTSW 5 31,411,606 (GRCm39) missense probably damaging 1.00
R7288:Ift172 UTSW 5 31,442,630 (GRCm39) missense probably damaging 1.00
R7351:Ift172 UTSW 5 31,433,240 (GRCm39) missense probably damaging 1.00
R7706:Ift172 UTSW 5 31,423,723 (GRCm39) nonsense probably null
R7890:Ift172 UTSW 5 31,440,425 (GRCm39) nonsense probably null
R7980:Ift172 UTSW 5 31,417,988 (GRCm39) missense probably benign
R8263:Ift172 UTSW 5 31,422,681 (GRCm39) missense possibly damaging 0.48
R8559:Ift172 UTSW 5 31,413,921 (GRCm39) missense probably damaging 0.98
R8717:Ift172 UTSW 5 31,412,985 (GRCm39) missense probably benign 0.00
R8774:Ift172 UTSW 5 31,415,207 (GRCm39) missense probably benign 0.45
R8774-TAIL:Ift172 UTSW 5 31,415,207 (GRCm39) missense probably benign 0.45
R9037:Ift172 UTSW 5 31,420,400 (GRCm39) missense possibly damaging 0.56
R9038:Ift172 UTSW 5 31,441,399 (GRCm39) missense possibly damaging 0.53
R9133:Ift172 UTSW 5 31,442,867 (GRCm39) missense probably benign 0.00
R9607:Ift172 UTSW 5 31,410,913 (GRCm39) missense
X0022:Ift172 UTSW 5 31,442,664 (GRCm39) missense probably damaging 0.97
Z1176:Ift172 UTSW 5 31,434,268 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02