Incidental Mutation 'R9037:Ift172'
ID 687459
Institutional Source Beutler Lab
Gene Symbol Ift172
Ensembl Gene ENSMUSG00000038564
Gene Name intraflagellar transport 172
Synonyms 4930553F24Rik, wim, avc1
MMRRC Submission 068969-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9037 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 31410623-31448458 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31420400 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 1079 (K1079E)
Ref Sequence ENSEMBL: ENSMUSP00000049335 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041565]
AlphaFold Q6VH22
Predicted Effect possibly damaging
Transcript: ENSMUST00000041565
AA Change: K1079E

PolyPhen 2 Score 0.561 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000049335
Gene: ENSMUSG00000038564
AA Change: K1079E

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 probably benign
Transcript: ENSMUST00000202585
SMART Domains Protein: ENSMUSP00000144216
Gene: ENSMUSG00000038564

DomainStartEndE-ValueType
Blast:WD40 46 78 2e-11 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 100% (66/66)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim3 T A 18: 61,952,066 (GRCm39) I432F probably benign Het
Aco2 C G 15: 81,756,620 (GRCm39) probably benign Het
Adcy1 A G 11: 7,087,325 (GRCm39) T400A possibly damaging Het
Afap1l2 A T 19: 56,918,403 (GRCm39) probably benign Het
Anapc4 C A 5: 53,021,843 (GRCm39) Q642K probably benign Het
Ano8 A G 8: 71,937,088 (GRCm39) F160S probably damaging Het
Apob T C 12: 8,066,501 (GRCm39) V4490A probably benign Het
Bcar1 A C 8: 112,447,522 (GRCm39) F152V probably benign Het
Cacna2d2 A G 9: 107,386,395 (GRCm39) D174G probably benign Het
Capn11 T C 17: 45,950,357 (GRCm39) K328R probably benign Het
Colq C A 14: 31,279,744 (GRCm39) probably benign Het
Coro1a A C 7: 126,299,772 (GRCm39) M350R probably benign Het
Ctbp1 T A 5: 33,424,352 (GRCm39) M24L probably benign Het
Cyp2c55 T A 19: 39,030,537 (GRCm39) F456L probably damaging Het
Dnah5 A T 15: 28,248,104 (GRCm39) K747M probably benign Het
Efcab3 A G 11: 104,803,791 (GRCm39) D3048G unknown Het
Esp36 C T 17: 38,729,840 (GRCm39) G60D unknown Het
Gast A G 11: 100,227,436 (GRCm39) E43G probably damaging Het
Gm5849 T G 3: 90,685,155 (GRCm39) N10T probably benign Het
Gulp1 T C 1: 44,793,524 (GRCm39) S62P probably benign Het
Hectd1 T C 12: 51,832,665 (GRCm39) D903G possibly damaging Het
Hk2 T A 6: 82,720,339 (GRCm39) I201F probably benign Het
Ifna2 T C 4: 88,601,664 (GRCm39) D118G probably benign Het
Igsf9 T C 1: 172,312,081 (GRCm39) V9A probably benign Het
Ints2 G A 11: 86,106,530 (GRCm39) T960I probably benign Het
Klk12 T C 7: 43,419,139 (GRCm39) W35R probably damaging Het
Ly6c1 C A 15: 74,917,300 (GRCm39) G116V probably damaging Het
Macf1 T C 4: 123,365,518 (GRCm39) N3081S probably benign Het
Mal2 A G 15: 54,434,939 (GRCm39) N12S unknown Het
Mgat1 T G 11: 49,152,256 (GRCm39) N246K probably damaging Het
Mpeg1 T A 19: 12,439,190 (GRCm39) V216E probably damaging Het
Mpo A G 11: 87,688,557 (GRCm39) probably benign Het
Mtmr9 T A 14: 63,761,532 (GRCm39) T541S possibly damaging Het
Or4a73 C T 2: 89,421,051 (GRCm39) R136Q probably benign Het
Or51b6b T A 7: 103,310,382 (GRCm39) H25L probably benign Het
Or5ak25 T C 2: 85,269,139 (GRCm39) D121G possibly damaging Het
Or8k3 G T 2: 86,059,042 (GRCm39) T91K probably benign Het
P2rx6 A G 16: 17,388,307 (GRCm39) T328A possibly damaging Het
Pcdhb12 A C 18: 37,569,229 (GRCm39) E125A probably benign Het
Pde3a C A 6: 141,416,832 (GRCm39) Q569K probably damaging Het
Pepd A T 7: 34,720,398 (GRCm39) Q227L probably benign Het
Piezo2 T A 18: 63,225,902 (GRCm39) E911D probably benign Het
Pnpla6 A T 8: 3,592,379 (GRCm39) R1241* probably null Het
Pold1 T C 7: 44,188,339 (GRCm39) D513G probably damaging Het
Polr1d A T 5: 147,015,490 (GRCm39) I58L probably benign Het
Ppif T C 14: 25,694,828 (GRCm39) L58P probably damaging Het
Preb T C 5: 31,116,590 (GRCm39) K101R probably benign Het
Psma8 G T 18: 14,854,251 (GRCm39) V44L probably benign Het
Ptf1a A G 2: 19,451,036 (GRCm39) Y122C possibly damaging Het
Ranbp6 T C 19: 29,790,317 (GRCm39) T12A probably benign Het
Rasal3 C A 17: 32,614,094 (GRCm39) R587L probably benign Het
Rnf146 T C 10: 29,223,676 (GRCm39) K70R probably benign Het
Serpinb6b G T 13: 33,161,998 (GRCm39) E266* probably null Het
Slc15a2 A T 16: 36,582,725 (GRCm39) M252K probably benign Het
Slc2a1 T C 4: 118,993,494 (GRCm39) F444L probably damaging Het
Sox9 A G 11: 112,675,650 (GRCm39) S280G probably damaging Het
Spata31e4 A G 13: 50,856,944 (GRCm39) K861E probably benign Het
Trappc8 A G 18: 20,961,539 (GRCm39) V1243A probably benign Het
Trpv2 A T 11: 62,475,231 (GRCm39) T215S probably damaging Het
Ttc39a A G 4: 109,299,981 (GRCm39) E490G probably damaging Het
Ush2a A T 1: 187,995,487 (GRCm39) D86V possibly damaging Het
Usp24 A G 4: 106,236,251 (GRCm39) T980A probably damaging Het
Vwa7 T C 17: 35,236,268 (GRCm39) V74A probably benign Het
Zan A G 5: 137,452,578 (GRCm39) V1501A unknown Het
Zfp105 A G 9: 122,758,836 (GRCm39) E169G possibly damaging Het
Zfp788 C T 7: 41,298,315 (GRCm39) T317I probably damaging 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
IGL03349:Ift172 APN 5 31,441,474 (GRCm39) missense probably benign 0.05
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
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
Predicted Primers PCR Primer
(F):5'- ACTTTTGCCTCAGCTTTTGGAG -3'
(R):5'- GGATTTTCTGAACGCCATCC -3'

Sequencing Primer
(F):5'- CTCTGTATATAGGATGCTCTGGGAG -3'
(R):5'- CTCTGTCCTTAAACACTGACCTAAG -3'
Posted On 2021-11-19