Incidental Mutation 'R4665:Ift172'
ID 401856
Institutional Source Beutler Lab
Gene Symbol Ift172
Ensembl Gene ENSMUSG00000038564
Gene Name intraflagellar transport 172
Synonyms 4930553F24Rik, wim, avc1
MMRRC Submission 041923-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4665 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 31410623-31448458 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 31442598 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 190 (Q190K)
Ref Sequence ENSEMBL: ENSMUSP00000049335 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041565] [ENSMUST00000201809]
AlphaFold Q6VH22
Predicted Effect possibly damaging
Transcript: ENSMUST00000041565
AA Change: Q190K

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000049335
Gene: ENSMUSG00000038564
AA Change: Q190K

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
Meta Mutation Damage Score 0.1325 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 99% (89/90)
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 T A 6: 86,902,059 (GRCm39) M76K probably null Het
Abcc4 A G 14: 118,766,414 (GRCm39) I886T probably benign Het
Adam6a T C 12: 113,507,992 (GRCm39) Y122H possibly damaging Het
Adgre1 A G 17: 57,787,947 (GRCm39) T905A probably benign Het
Arap2 A G 5: 62,827,312 (GRCm39) F969L possibly damaging Het
Arhgef4 G T 1: 34,845,113 (GRCm39) G1439V possibly damaging Het
Atm A G 9: 53,375,529 (GRCm39) W2097R probably benign Het
Atmin A G 8: 117,684,698 (GRCm39) D786G probably damaging Het
AU016765 T A 17: 64,826,916 (GRCm39) noncoding transcript Het
Capn1 A T 19: 6,061,045 (GRCm39) N253K probably benign Het
Cdc42bpa A G 1: 179,972,130 (GRCm39) T527A probably damaging Het
Chmp7 A T 14: 69,958,404 (GRCm39) V255D probably damaging Het
Cldn12 A G 5: 5,558,385 (GRCm39) F14S probably damaging Het
Cpsf2 T C 12: 101,949,466 (GRCm39) S61P probably damaging Het
Cpvl C T 6: 53,908,918 (GRCm39) E282K probably benign Het
Crygn T A 5: 24,956,019 (GRCm39) probably benign Het
Csde1 C T 3: 102,954,388 (GRCm39) T386M probably damaging Het
Cux1 G A 5: 136,315,653 (GRCm39) T1129I probably damaging Het
Dcaf10 G A 4: 45,372,769 (GRCm39) R394Q possibly damaging Het
Dhx16 T C 17: 36,190,835 (GRCm39) V11A probably damaging Het
Dnah10 T C 5: 124,905,536 (GRCm39) M4060T possibly damaging Het
Duox1 C T 2: 122,149,956 (GRCm39) P116S probably benign Het
Eif5b A G 1: 38,084,793 (GRCm39) E880G probably damaging Het
Eml6 A T 11: 29,769,007 (GRCm39) Y67* probably null Het
Faim2 C A 15: 99,422,581 (GRCm39) probably null Het
Faim2 T G 15: 99,422,582 (GRCm39) S72R probably benign Het
Fanca T C 8: 123,995,711 (GRCm39) T1364A probably damaging Het
Fhip1a A T 3: 85,637,988 (GRCm39) W104R probably damaging Het
Gak A G 5: 108,730,826 (GRCm39) I860T probably benign Het
Garem2 C A 5: 30,319,665 (GRCm39) R376S probably damaging Het
Gdf2 A G 14: 33,667,408 (GRCm39) T377A probably damaging Het
Gm2431 A T 7: 141,811,440 (GRCm39) C155S unknown Het
Gm5814 A G 17: 47,721,288 (GRCm39) M1V probably null Het
Gm5901 C G 7: 105,026,438 (GRCm39) Q69E possibly damaging Het
Gm9945 A G 11: 53,371,202 (GRCm39) probably benign Het
Gmps T C 3: 63,908,956 (GRCm39) V486A probably benign Het
Gtf2ird1 T A 5: 134,412,756 (GRCm39) E55V probably damaging Het
Hoxa11 T A 6: 52,220,483 (GRCm39) N267Y probably damaging Het
Ifngr2 C A 16: 91,356,926 (GRCm39) H153Q possibly damaging Het
Iqch A G 9: 63,352,853 (GRCm39) V899A probably damaging Het
Lactb2 T C 1: 13,717,624 (GRCm39) E133G probably damaging Het
Lig3 G A 11: 82,691,076 (GRCm39) V110M probably damaging Het
Lin54 C A 5: 100,600,943 (GRCm39) Q262H possibly damaging Het
Lingo3 G A 10: 80,671,372 (GRCm39) T186I probably damaging Het
Lrrc7 GAAGTTGTTTGGAGATTCTTATCTTA GA 3: 158,024,045 (GRCm39) probably benign Het
Ly86 T A 13: 37,559,010 (GRCm39) F70I probably damaging Het
Mospd2 A T X: 163,730,329 (GRCm39) S301T probably benign Het
Mroh2a A C 1: 88,169,340 (GRCm39) I672L probably benign Het
Myo15a A T 11: 60,395,705 (GRCm39) probably null Het
Nme8 C G 13: 19,858,605 (GRCm39) A78P probably damaging Het
Obscn C T 11: 59,015,578 (GRCm39) V965M probably damaging Het
Or10ag57 T A 2: 87,218,220 (GRCm39) I57K probably damaging Het
Parn T C 16: 13,358,967 (GRCm39) K592E probably benign Het
Pax6 C A 2: 105,514,343 (GRCm39) probably benign Het
Pdcd6 A T 13: 74,465,325 (GRCm39) M1K probably null Het
Pex11b T C 3: 96,551,151 (GRCm39) L198P possibly damaging Het
Phldb3 C T 7: 24,310,852 (GRCm39) A28V probably benign Het
Pkn3 C A 2: 29,975,469 (GRCm39) probably benign Het
Pknox1 T C 17: 31,814,300 (GRCm39) probably null Het
Ptprg A C 14: 12,215,288 (GRCm38) I1092L possibly damaging Het
Pxylp1 A C 9: 96,707,338 (GRCm39) I281M probably damaging Het
Ramac C T 7: 81,418,178 (GRCm39) R78W probably damaging Het
Retreg2 G T 1: 75,121,310 (GRCm39) L195F probably damaging Het
Rgs20 G C 1: 5,091,231 (GRCm39) F66L probably benign Het
Ripk4 C T 16: 97,556,273 (GRCm39) V157I probably damaging Het
Ryr2 T C 13: 11,765,571 (GRCm39) probably null Het
Scaper A T 9: 55,819,339 (GRCm39) S125R probably damaging Het
Sec16a C T 2: 26,302,970 (GRCm39) probably benign Het
Slc35f6 T C 5: 30,812,957 (GRCm39) L37P probably damaging Het
Slc6a12 T A 6: 121,335,972 (GRCm39) probably benign Het
Slc9a5 A G 8: 106,094,760 (GRCm39) K784E probably damaging Het
Snd1 T C 6: 28,707,053 (GRCm39) V455A probably damaging Het
Ssbp2 A T 13: 91,687,454 (GRCm39) I46L possibly damaging Het
Stil A G 4: 114,898,841 (GRCm39) D1157G probably benign Het
Tax1bp1 T A 6: 52,714,116 (GRCm39) C271S probably benign Het
Tdpoz6 G A 3: 93,599,776 (GRCm39) H198Y probably damaging Het
Tdrd6 T A 17: 43,935,007 (GRCm39) M2014L probably benign Het
Thsd7a T A 6: 12,504,012 (GRCm39) I381F possibly damaging Het
Thsd7a T A 6: 12,337,313 (GRCm39) T1235S possibly damaging Het
Tmprss11d T C 5: 86,457,260 (GRCm39) D133G probably damaging Het
Tpr C T 1: 150,320,150 (GRCm39) R2233W probably damaging Het
Ugt1a1 CAGAGAGAGAGAGA CAGAGAGAGAGA 1: 88,139,706 (GRCm39) probably benign Het
Vgll1 A G X: 56,137,792 (GRCm39) R54G possibly damaging Het
Wdr72 A G 9: 74,117,306 (GRCm39) T673A probably benign Het
Zfp169 C T 13: 48,644,339 (GRCm39) probably benign Het
Zfp319 G A 8: 96,052,201 (GRCm39) 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
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
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
Predicted Primers PCR Primer
(F):5'- ACTCCTAAATGCATCTCTGTGGTG -3'
(R):5'- TTACGTGGTAGCACTGACAAC -3'

Sequencing Primer
(F):5'- TCTGTGGTGGCATCCAAAC -3'
(R):5'- TAGCATTGGAACTGTCAGGCAC -3'
Posted On 2016-07-14