Incidental Mutation 'R0153:Ift172'
ID 22826
Institutional Source Beutler Lab
Gene Symbol Ift172
Ensembl Gene ENSMUSG00000038564
Gene Name intraflagellar transport 172
Synonyms 4930553F24Rik, wim, avc1
MMRRC Submission 038436-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0153 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 5
Chromosomal Location 31410623-31448458 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31417968 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 1274 (R1274G)
Ref Sequence ENSEMBL: ENSMUSP00000049335 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041565]
AlphaFold Q6VH22
Predicted Effect probably benign
Transcript: ENSMUST00000041565
AA Change: R1274G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000049335
Gene: ENSMUSG00000038564
AA Change: R1274G

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: ENSMUST00000200936
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201057
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201953
Meta Mutation Damage Score 0.0883 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.5%
  • 20x: 90.1%
Validation Efficiency 97% (99/102)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 T C 5: 124,218,119 (GRCm39) M406V probably benign Het
Adar T C 3: 89,638,121 (GRCm39) S2P probably benign Het
Adgre1 T A 17: 57,750,939 (GRCm39) S538T possibly damaging Het
Alms1 T A 6: 85,618,363 (GRCm39) I2803N possibly damaging Het
Amn1 G T 6: 149,090,091 (GRCm39) probably benign Het
Arid1b G A 17: 5,393,207 (GRCm39) A2246T probably damaging Het
BC024139 T C 15: 76,005,947 (GRCm39) E418G probably damaging Het
Bok A G 1: 93,614,239 (GRCm39) D24G probably damaging Het
Cabp2 T C 19: 4,134,913 (GRCm39) probably benign Het
Ccdc141 C A 2: 76,995,582 (GRCm39) probably benign Het
Ccdc178 T C 18: 22,283,492 (GRCm39) T13A probably benign Het
Ccdc42 G T 11: 68,478,476 (GRCm39) V33F possibly damaging Het
Clcn7 G A 17: 25,368,176 (GRCm39) probably benign Het
Cluh A G 11: 74,548,176 (GRCm39) probably benign Het
Cr1l A T 1: 194,797,164 (GRCm39) probably benign Het
Cracdl A G 1: 37,663,720 (GRCm39) V726A probably benign Het
Csnk1g3 T A 18: 54,051,861 (GRCm39) probably benign Het
Depdc5 T C 5: 33,091,281 (GRCm39) probably benign Het
Dgkh A C 14: 78,807,569 (GRCm39) Y1149* probably null Het
Dipk2a G T 9: 94,406,533 (GRCm39) D291E probably benign Het
Dnai1 A G 4: 41,635,162 (GRCm39) probably benign Het
Dync2i1 A G 12: 116,196,256 (GRCm39) V497A probably benign Het
Efcab2 A G 1: 178,302,451 (GRCm39) E65G possibly damaging Het
Eif4a3l1 A T 6: 136,305,842 (GRCm39) D101V probably damaging Het
Eno1b T C 18: 48,180,806 (GRCm39) I328T probably benign Het
Fgfr4 A G 13: 55,309,198 (GRCm39) probably benign Het
Garin5b A T 7: 4,773,286 (GRCm39) L177Q probably damaging Het
Gm10720 A C 9: 3,015,787 (GRCm39) S44R probably null Het
Gm17535 T A 9: 3,035,786 (GRCm39) L218H probably benign Het
Gm6471 A T 7: 142,385,368 (GRCm39) noncoding transcript Het
Hnrnpm C T 17: 33,865,489 (GRCm39) R724Q probably damaging Het
Homer1 C T 13: 93,528,254 (GRCm39) T117I possibly damaging Het
Hoxd4 A T 2: 74,557,801 (GRCm39) Q60L probably damaging Het
Ino80d A G 1: 63,097,477 (GRCm39) S806P probably damaging Het
Itga10 T C 3: 96,561,016 (GRCm39) V627A probably benign Het
Itgb2l A G 16: 96,238,569 (GRCm39) Y77H possibly damaging Het
Kel A T 6: 41,678,877 (GRCm39) H195Q probably benign Het
Klhdc7a A G 4: 139,694,582 (GRCm39) S122P possibly damaging Het
Krt71 T A 15: 101,643,141 (GRCm39) I456F possibly damaging Het
Lats1 T A 10: 7,567,339 (GRCm39) S37T probably damaging Het
Lrp1b T A 2: 41,013,031 (GRCm39) H1858L possibly damaging Het
Matk A T 10: 81,098,676 (GRCm39) T461S probably benign Het
Meikin A G 11: 54,300,468 (GRCm39) probably benign Het
Muc6 T C 7: 141,214,029 (GRCm39) Q2832R possibly damaging Het
Myo10 T C 15: 25,781,324 (GRCm39) F194L possibly damaging Het
Nbas G A 12: 13,323,877 (GRCm39) probably benign Het
Nme4 A G 17: 26,312,831 (GRCm39) probably null Het
Or13p8 A T 4: 118,583,530 (GRCm39) I29F possibly damaging Het
Or4c112 T A 2: 88,853,540 (GRCm39) N269I probably benign Het
Or5w13 A G 2: 87,523,948 (GRCm39) S93P probably benign Het
Or7g32 T A 9: 19,408,233 (GRCm39) L63H probably damaging Het
Or8g34 T C 9: 39,372,967 (GRCm39) V80A probably damaging Het
Pacsin2 T C 15: 83,261,862 (GRCm39) Q473R probably benign Het
Patz1 A G 11: 3,243,288 (GRCm39) H427R probably damaging Het
Pkp3 A G 7: 140,663,256 (GRCm39) Y367C probably damaging Het
Prdm2 G A 4: 142,860,338 (GRCm39) P984L possibly damaging Het
Rev3l T A 10: 39,750,124 (GRCm39) C3091* probably null Het
Rims4 C T 2: 163,705,849 (GRCm39) V262M possibly damaging Het
Rpl5 T C 5: 108,052,623 (GRCm39) F140L probably benign Het
Sec24a A C 11: 51,591,653 (GRCm39) I1014M probably benign Het
Serpinb11 A G 1: 107,299,933 (GRCm39) H93R probably benign Het
Shank2 C A 7: 143,623,872 (GRCm39) H286N probably benign Het
Sipa1l2 G T 8: 126,148,637 (GRCm39) Q1651K probably damaging Het
Slc17a3 C T 13: 24,039,841 (GRCm39) S293F probably damaging Het
Slc30a5 A T 13: 100,963,002 (GRCm39) F75L possibly damaging Het
Slco1a1 G T 6: 141,856,427 (GRCm39) probably benign Het
Smg5 C T 3: 88,261,179 (GRCm39) probably benign Het
Snapc1 C T 12: 74,021,806 (GRCm39) R81C probably damaging Het
Taf8 A T 17: 47,809,177 (GRCm39) probably benign Het
Tars3 A G 7: 65,333,829 (GRCm39) D617G probably damaging Het
Tbc1d5 A T 17: 51,291,715 (GRCm39) probably benign Het
Tfcp2 C G 15: 100,412,708 (GRCm39) E315Q probably damaging Het
Tmf1 A T 6: 97,147,345 (GRCm39) S540R probably damaging Het
Tmprss4 T C 9: 45,095,634 (GRCm39) Q70R probably benign Het
Trip13 G T 13: 74,068,183 (GRCm39) A266E possibly damaging Het
Ttc24 T A 3: 87,982,234 (GRCm39) probably benign Het
Ttll5 T A 12: 85,878,740 (GRCm39) I49N probably damaging Het
Tut7 G A 13: 59,930,150 (GRCm39) R962* probably null Het
Ube2ql1 A T 13: 69,886,711 (GRCm39) M250K possibly damaging Het
Vmn1r87 A T 7: 12,866,211 (GRCm39) D25E probably damaging Het
Vmn2r84 A G 10: 130,227,877 (GRCm39) Y120H probably benign Het
Wdr6 G A 9: 108,452,441 (GRCm39) R481C probably damaging Het
Zdhhc17 A T 10: 110,790,955 (GRCm39) Y371* probably null Het
Zfp292 T C 4: 34,811,185 (GRCm39) N620D probably benign Het
Zfp932 T A 5: 110,154,834 (GRCm39) Y11N 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
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
Predicted Primers PCR Primer
(F):5'- AGTCCACTGCACGGCTATACTCTC -3'
(R):5'- CTCCACACTGATTCCTGGCAAGAAG -3'

Sequencing Primer
(F):5'- CGGCTATACTCTCCAGCCTG -3'
(R):5'- TCTGTAGTCAGGCCAGAGG -3'
Posted On 2013-04-16