Incidental Mutation 'R0357:Ift172'
ID 29872
Institutional Source Beutler Lab
Gene Symbol Ift172
Ensembl Gene ENSMUSG00000038564
Gene Name intraflagellar transport 172
Synonyms 4930553F24Rik, wim, avc1
MMRRC Submission 038563-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0357 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 31410623-31448458 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31415244 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1322 (S1322P)
Ref Sequence ENSEMBL: ENSMUSP00000049335 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041565] [ENSMUST00000054829] [ENSMUST00000201625] [ENSMUST00000201937]
AlphaFold Q6VH22
Predicted Effect possibly damaging
Transcript: ENSMUST00000041565
AA Change: S1322P

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000049335
Gene: ENSMUSG00000038564
AA Change: S1322P

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: ENSMUST00000054829
SMART Domains Protein: ENSMUSP00000060414
Gene: ENSMUSG00000029149

DomainStartEndE-ValueType
Pfam:BCLP 19 211 8.6e-80 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200936
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201057
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201333
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201426
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201565
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202560
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202007
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202384
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201672
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201953
Predicted Effect probably benign
Transcript: ENSMUST00000201625
SMART Domains Protein: ENSMUSP00000144052
Gene: ENSMUSG00000029149

DomainStartEndE-ValueType
Pfam:BCLP 19 206 1.8e-74 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000201937
SMART Domains Protein: ENSMUSP00000144464
Gene: ENSMUSG00000029149

DomainStartEndE-ValueType
Pfam:BCLP 19 206 1.8e-74 PFAM
Meta Mutation Damage Score 0.1032 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.9%
  • 10x: 95.3%
  • 20x: 89.3%
Validation Efficiency 99% (74/75)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf2 T C 5: 24,778,463 (GRCm39) K232E probably benign Het
AI837181 C T 19: 5,476,731 (GRCm39) T298I possibly damaging Het
Alox12 T C 11: 70,133,362 (GRCm39) Y614C probably damaging Het
Amn A T 12: 111,240,575 (GRCm39) probably null Het
Ankrd33b A G 15: 31,305,272 (GRCm39) S121P probably benign Het
Aox1 A G 1: 58,131,675 (GRCm39) Y1028C probably damaging Het
Asph C A 4: 9,453,314 (GRCm39) R736L probably benign Het
Atp2a3 G A 11: 72,861,757 (GRCm39) probably null Het
Cables2 T C 2: 179,904,025 (GRCm39) probably benign Het
Catsperg2 A T 7: 29,414,326 (GRCm39) Y360N possibly damaging Het
Cdh4 T C 2: 179,489,133 (GRCm39) S282P probably damaging Het
Col5a3 C T 9: 20,719,064 (GRCm39) probably benign Het
Ctso A T 3: 81,858,850 (GRCm39) probably benign Het
Cyp4f13 A T 17: 33,151,625 (GRCm39) Y125* probably null Het
Dapk1 T A 13: 60,877,372 (GRCm39) L537* probably null Het
Ddit4l G A 3: 137,331,946 (GRCm39) R104Q probably benign Het
Def6 C T 17: 28,442,909 (GRCm39) H322Y probably damaging Het
Dnaaf9 A T 2: 130,554,866 (GRCm39) probably benign Het
Dnah6 T C 6: 73,165,342 (GRCm39) N588D probably benign Het
Dzip1 T A 14: 119,146,950 (GRCm39) I320F probably damaging Het
Epb41l5 T C 1: 119,536,934 (GRCm39) H319R probably damaging Het
Erc2 A G 14: 27,498,979 (GRCm39) E285G probably damaging Het
Fat4 G A 3: 38,945,376 (GRCm39) G1423E probably damaging Het
Foxp2 C T 6: 15,409,839 (GRCm39) P480S probably damaging Het
Gadd45gip1 G A 8: 85,560,762 (GRCm39) A126T probably damaging Het
Gbp5 G A 3: 142,211,172 (GRCm39) D301N probably benign Het
Gm10360 T C 6: 70,401,297 (GRCm39) noncoding transcript Het
Gm6471 T A 7: 142,387,604 (GRCm39) noncoding transcript Het
Gm8674 T A 13: 50,056,149 (GRCm39) noncoding transcript Het
H2bc18 A C 3: 96,177,104 (GRCm39) K13Q probably null Het
Ift80 A T 3: 68,821,986 (GRCm39) Y686* probably null Het
Insrr A C 3: 87,715,953 (GRCm39) probably null Het
Itprid1 T A 6: 55,945,019 (GRCm39) M580K probably benign Het
Krt87 C T 15: 101,384,900 (GRCm39) V399M probably benign Het
Macf1 T C 4: 123,351,776 (GRCm39) N3708S probably damaging Het
Matcap1 A T 8: 106,011,699 (GRCm39) V222E probably damaging Het
Mogat1 T C 1: 78,488,677 (GRCm39) S27P probably benign Het
Mrgpra4 A T 7: 47,631,574 (GRCm39) M9K probably benign Het
Mtus1 A T 8: 41,536,563 (GRCm39) S384R possibly damaging Het
Myo1a T A 10: 127,546,771 (GRCm39) M306K probably benign Het
Noxa1 G T 2: 24,975,862 (GRCm39) D403E probably damaging Het
Ogdhl T C 14: 32,068,415 (GRCm39) V884A possibly damaging Het
Or10ak12 A C 4: 118,666,614 (GRCm39) L149R probably damaging Het
Or2y1f A G 11: 49,184,613 (GRCm39) N155S probably damaging Het
Or6k4 T A 1: 173,964,865 (GRCm39) L185* probably null Het
Or6n1 T C 1: 173,916,675 (GRCm39) V23A possibly damaging Het
Paxip1 G A 5: 27,963,621 (GRCm39) probably benign Het
Paxx T A 2: 25,350,079 (GRCm39) E145D probably damaging Het
Pde4d T C 13: 110,087,802 (GRCm39) V560A possibly damaging Het
Pheta2 C T 15: 82,227,517 (GRCm39) A12V probably damaging Het
Plxnd1 C T 6: 115,946,421 (GRCm39) V847M probably benign Het
Polk T A 13: 96,641,105 (GRCm39) M151L probably damaging Het
Ptprq C T 10: 107,522,060 (GRCm39) probably benign Het
Pum2 A G 12: 8,771,785 (GRCm39) Q371R possibly damaging Het
Reln G A 5: 22,155,820 (GRCm39) A2224V probably damaging Het
Rmc1 T C 18: 12,312,266 (GRCm39) S169P possibly damaging Het
Scart1 T G 7: 139,807,808 (GRCm39) C660G probably damaging Het
Shroom1 A G 11: 53,356,035 (GRCm39) T362A probably damaging Het
Smarcd2 A G 11: 106,158,158 (GRCm39) probably null Het
Spg11 A C 2: 121,896,713 (GRCm39) probably benign Het
Tcaf3 T A 6: 42,566,761 (GRCm39) Y776F probably damaging Het
Thada A G 17: 84,538,364 (GRCm39) V1548A probably damaging Het
Trpv2 C T 11: 62,481,130 (GRCm39) P410S probably damaging Het
Ube2u G T 4: 100,338,851 (GRCm39) E39* probably null Het
Ulbp3 A T 10: 3,070,307 (GRCm39) noncoding transcript Het
Ulbp3 A G 10: 3,075,788 (GRCm39) noncoding transcript Het
Vmn2r2 C T 3: 64,041,320 (GRCm39) probably null Het
Vmn2r24 TCC TC 6: 123,792,369 (GRCm39) probably null Het
Wdr87-ps A T 7: 29,235,007 (GRCm39) noncoding transcript Het
Zfp110 A G 7: 12,570,302 (GRCm39) Y43C probably damaging Het
Zfp605 A G 5: 110,272,245 (GRCm39) T55A 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
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'- TTCCATGTGACGCAGTGGTCTTC -3'
(R):5'- AATGCAGTGACCTCAGACAGCCAG -3'

Sequencing Primer
(F):5'- ACTTGGTGAACTCCCACCC -3'
(R):5'- GCATCTGAAGAGCTGTTAGCC -3'
Posted On 2013-04-24