Incidental Mutation 'R0973:Ift172'
ID 236724
Institutional Source Beutler Lab
Gene Symbol Ift172
Ensembl Gene ENSMUSG00000038564
Gene Name intraflagellar transport 172
Synonyms 4930553F24Rik, wim, avc1
MMRRC Submission 039102-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0973 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 31410623-31448458 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 31422699 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 917 (R917H)
Ref Sequence ENSEMBL: ENSMUSP00000049335 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041565]
AlphaFold Q6VH22
Predicted Effect probably benign
Transcript: ENSMUST00000041565
AA Change: R917H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000049335
Gene: ENSMUSG00000038564
AA Change: R917H

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

DomainStartEndE-ValueType
Blast:WD40 46 78 2e-11 BLAST
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 93% (38/41)
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700056E22Rik C T 1: 183,765,702 (GRCm39) S119N probably benign Het
4930503L19Rik T A 18: 70,600,997 (GRCm39) probably null Het
Adam18 T C 8: 25,137,869 (GRCm39) T324A probably benign Het
Adamts20 T A 15: 94,184,252 (GRCm39) Q1517L probably benign Het
AI429214 A G 8: 37,461,473 (GRCm39) Q207R probably benign Het
Arhgef7 A G 8: 11,869,659 (GRCm39) T432A possibly damaging Het
Atad2b A G 12: 5,081,784 (GRCm39) N1231S probably benign Het
Atp13a1 T C 8: 70,254,794 (GRCm39) probably null Het
Atp6v0a1 T A 11: 100,946,317 (GRCm39) L770* probably null Het
Atp8b3 T C 10: 80,370,032 (GRCm39) N127S probably damaging Het
B3gnt5 T A 16: 19,588,760 (GRCm39) D326E probably damaging Het
Birc6 T A 17: 74,872,856 (GRCm39) S372T probably damaging Het
Btbd9 T A 17: 30,518,607 (GRCm39) D451V probably damaging Het
Cd46 T C 1: 194,724,300 (GRCm39) *366W probably null Het
Cdcp3 T C 7: 130,839,911 (GRCm39) L611P probably damaging Het
Cdh18 T A 15: 23,474,081 (GRCm39) D650E probably damaging Het
Cenpc1 A T 5: 86,185,767 (GRCm39) V248E probably damaging Het
Cep152 A G 2: 125,436,819 (GRCm39) S574P probably benign Het
Chd2 A G 7: 73,128,412 (GRCm39) S858P probably damaging Het
Cib4 T C 5: 30,645,938 (GRCm39) D110G probably damaging Het
Col9a2 T A 4: 120,896,985 (GRCm39) probably null Het
Csmd2 A T 4: 128,389,981 (GRCm39) I2239F possibly damaging Het
Csmd3 C A 15: 47,522,485 (GRCm39) G2728V probably damaging Het
Cxcl1 A T 5: 91,039,626 (GRCm39) K85* probably null Het
Cyp2d11 A G 15: 82,273,730 (GRCm39) L416P possibly damaging Het
Daam1 A C 12: 71,962,558 (GRCm39) K90T unknown Het
Depdc5 T A 5: 33,144,310 (GRCm39) M1435K possibly damaging Het
Dip2c G A 13: 9,626,944 (GRCm39) A632T probably damaging Het
Dld A T 12: 31,384,053 (GRCm39) I350N probably damaging Het
Dmtf1 T A 5: 9,177,987 (GRCm39) I391F possibly damaging Het
Dnah14 T C 1: 181,579,710 (GRCm39) V3081A probably damaging Het
Efemp1 A G 11: 28,804,538 (GRCm39) E22G probably damaging Het
Ephb6 A G 6: 41,591,038 (GRCm39) D65G probably damaging Het
Fsip2 A T 2: 82,807,436 (GRCm39) T1252S probably benign Het
Gm4847 A G 1: 166,457,824 (GRCm39) S510P probably benign Het
Golga4 T C 9: 118,366,341 (GRCm39) I365T probably damaging Het
Gp2 A T 7: 119,053,766 (GRCm39) L65Q probably damaging Het
Ibtk T C 9: 85,625,630 (GRCm39) Y40C probably damaging Het
Ice1 C A 13: 70,750,546 (GRCm39) V1847L probably benign Het
Itgae C T 11: 73,029,335 (GRCm39) Q1037* probably null Het
Kbtbd7 A G 14: 79,664,870 (GRCm39) E234G possibly damaging Het
Khsrp T C 17: 57,332,576 (GRCm39) T235A probably benign Het
Klk13 T C 7: 43,370,582 (GRCm39) probably null Het
Lrfn5 G A 12: 61,890,223 (GRCm39) G504D probably damaging Het
Macf1 A G 4: 123,369,793 (GRCm39) V91A possibly damaging Het
Map6 G A 7: 98,985,950 (GRCm39) G821D possibly damaging Het
Mark1 A C 1: 184,653,801 (GRCm39) V167G probably damaging Het
Mrgprf T A 7: 144,861,993 (GRCm39) L185Q probably damaging Het
Mtor T A 4: 148,634,645 (GRCm39) V2422D probably damaging Het
Myh13 T A 11: 67,223,346 (GRCm39) I222N probably damaging Het
Myh7b G A 2: 155,462,347 (GRCm39) C350Y probably benign Het
Nfix G A 8: 85,453,155 (GRCm39) R300C probably damaging Het
Olfm3 C A 3: 114,895,635 (GRCm39) S172R probably benign Het
Or13e8 A G 4: 43,696,706 (GRCm39) S156P probably damaging Het
Or1j14 A G 2: 36,418,020 (GRCm39) I199V probably benign Het
Or4c1 A T 2: 89,133,528 (GRCm39) I136N probably damaging Het
Or5d40 A T 2: 88,015,322 (GRCm39) T34S probably benign Het
Or8b48 T A 9: 38,492,579 (GRCm39) V2D possibly damaging Het
Pacs1 A T 19: 5,193,857 (GRCm39) D557E probably damaging Het
Pde1c A G 6: 56,338,800 (GRCm39) F11L probably benign Het
Phactr2 T C 10: 13,122,883 (GRCm39) D343G possibly damaging Het
Piezo2 T C 18: 63,148,873 (GRCm39) Y2659C probably damaging Het
Pkd2l2 A G 18: 34,561,305 (GRCm39) T438A probably damaging Het
Pld2 T C 11: 70,447,907 (GRCm39) W857R probably damaging Het
Plxnb1 T C 9: 108,931,210 (GRCm39) V410A possibly damaging Het
Pramel26 T C 4: 143,538,428 (GRCm39) Y181C probably damaging Het
Ptger2 A G 14: 45,226,957 (GRCm39) Y179C probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rcan1 A T 16: 92,190,408 (GRCm39) M177K probably benign Het
Rilpl1 A G 5: 124,639,934 (GRCm39) S156P probably benign Het
Rilpl1 A G 5: 124,639,951 (GRCm39) I122T possibly damaging Het
Rims4 C T 2: 163,705,849 (GRCm39) V262M possibly damaging Het
Rpa1 C T 11: 75,203,799 (GRCm39) probably null Het
Saxo2 A G 7: 82,284,078 (GRCm39) V260A probably benign Het
Sel1l T C 12: 91,791,634 (GRCm39) Y309C probably damaging Het
Setd1b GCCCCCCC GCCCCCCCCCCCCC 5: 123,298,766 (GRCm39) probably benign Het
Slc33a1 A G 3: 63,850,725 (GRCm39) F533S probably benign Het
Slc38a4 C T 15: 96,903,739 (GRCm39) V421M probably benign Het
Snx14 A G 9: 88,282,774 (GRCm39) probably null Het
Spef2 A G 15: 9,716,482 (GRCm39) F368S probably damaging Het
Sri A T 5: 8,109,381 (GRCm39) Q55L probably damaging Het
Stat4 A G 1: 52,135,979 (GRCm39) I429M probably damaging Het
Stkld1 A T 2: 26,841,462 (GRCm39) Q469L probably benign Het
Tm9sf1 T C 14: 55,880,392 (GRCm39) T2A possibly damaging Het
Tmco5 A G 2: 116,713,699 (GRCm39) T122A probably benign Het
Tmem59l G A 8: 70,938,710 (GRCm39) P124S possibly damaging Het
Tmem81 G A 1: 132,435,662 (GRCm39) R156Q probably damaging Het
Trpv6 T A 6: 41,602,122 (GRCm39) T396S probably benign Het
Usp24 T A 4: 106,228,276 (GRCm39) Y780* probably null Het
Utp25 A T 1: 192,797,011 (GRCm39) N573K probably damaging Het
Vmn1r120 A G 7: 20,786,941 (GRCm39) C257R probably damaging Het
Vmn2r53 A G 7: 12,335,319 (GRCm39) F114L probably damaging Het
Vwf A G 6: 125,619,969 (GRCm39) E1549G probably damaging Het
Zfp626 G A 7: 27,517,907 (GRCm39) R296H 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
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'- GAGTGCACCTCCTCATTCAC -3'
(R):5'- CAGCCTGAAAGGAATCTCGGAG -3'

Sequencing Primer
(F):5'- CACTGTGATGTTGTCTGAGCTCC -3'
(R):5'- CCTGAAAGGAATCTCGGAGTGTGG -3'
Posted On 2014-10-02