Incidental Mutation 'R4590:Ift172'
ID 342735
Institutional Source Beutler Lab
Gene Symbol Ift172
Ensembl Gene ENSMUSG00000038564
Gene Name intraflagellar transport 172
Synonyms 4930553F24Rik, wim, avc1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4590 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 31410623-31448458 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31411299 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1643 (E1643G)
Ref Sequence ENSEMBL: ENSMUSP00000049335 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031034] [ENSMUST00000041565] [ENSMUST00000054829] [ENSMUST00000201625] [ENSMUST00000202576] [ENSMUST00000201937]
AlphaFold Q6VH22
Predicted Effect probably benign
Transcript: ENSMUST00000031034
SMART Domains Protein: ENSMUSP00000031034
Gene: ENSMUSG00000029148

DomainStartEndE-ValueType
low complexity region 27 60 N/A INTRINSIC
Pfam:Pkinase_Tyr 80 324 5.8e-26 PFAM
Pfam:Pkinase 80 327 1e-26 PFAM
low complexity region 412 436 N/A INTRINSIC
low complexity region 459 476 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000041565
AA Change: E1643G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000049335
Gene: ENSMUSG00000038564
AA Change: E1643G

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: ENSMUST00000200857
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201070
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201333
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201393
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202560
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201426
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201672
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201697
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201565
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202982
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202801
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202384
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202007
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: ENSMUST00000202576
SMART Domains Protein: ENSMUSP00000143872
Gene: ENSMUSG00000029148

DomainStartEndE-ValueType
low complexity region 27 60 N/A INTRINSIC
Pfam:Pkinase 79 335 1e-24 PFAM
Pfam:Pkinase_Tyr 81 332 6.5e-25 PFAM
low complexity region 420 444 N/A INTRINSIC
low complexity region 467 484 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000201937
SMART Domains Protein: ENSMUSP00000144464
Gene: ENSMUSG00000029149

DomainStartEndE-ValueType
Pfam:BCLP 19 206 1.8e-74 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankhd1 T A 18: 36,716,697 (GRCm39) D201E probably damaging Het
Ano10 T A 9: 122,086,231 (GRCm39) Q398L probably benign Het
Ap3d1 A T 10: 80,555,646 (GRCm39) L319* probably null Het
Cacna1e T C 1: 154,312,265 (GRCm39) M1575V possibly damaging Het
Cep192 T A 18: 67,949,862 (GRCm39) Y315* probably null Het
Cndp2 C A 18: 84,687,933 (GRCm39) V353F probably damaging Het
Ctsq T A 13: 61,184,028 (GRCm39) N298I probably benign Het
Dnah6 A T 6: 73,129,695 (GRCm39) C1173S probably damaging Het
Dnah9 T C 11: 65,931,218 (GRCm39) M1993V probably damaging Het
Dnhd1 T C 7: 105,363,237 (GRCm39) V3933A probably damaging Het
Dnpep C A 1: 75,293,045 (GRCm39) V76L probably damaging Het
Dsc3 A C 18: 20,122,752 (GRCm39) C57W probably damaging Het
Dtx3 A G 10: 127,028,564 (GRCm39) S222P probably damaging Het
Eml5 T C 12: 98,803,600 (GRCm39) Y1009C possibly damaging Het
Fam169a A G 13: 97,234,093 (GRCm39) I122V probably benign Het
Fgr T A 4: 132,722,364 (GRCm39) V211E probably damaging Het
Flvcr1 T C 1: 190,744,343 (GRCm39) T402A probably benign Het
Frmd5 C T 2: 121,595,512 (GRCm39) probably null Het
Fut2 T C 7: 45,300,370 (GRCm39) N134S possibly damaging Het
Gm10110 A T 14: 90,134,982 (GRCm39) noncoding transcript Het
Gm7275 A T 16: 47,893,982 (GRCm39) noncoding transcript Het
Gm904 T A 13: 50,799,285 (GRCm39) C81* probably null Het
Herc1 T A 9: 66,344,946 (GRCm39) V1913E probably damaging Het
Hnmt T C 2: 23,909,111 (GRCm39) probably null Het
Inpp4b T A 8: 82,468,040 (GRCm39) M1K probably null Het
Keap1 G T 9: 21,148,905 (GRCm39) A34D probably damaging Het
Krt25 T C 11: 99,208,854 (GRCm39) probably benign Het
Lama2 A G 10: 26,865,410 (GRCm39) V2916A probably benign Het
Ly9 G A 1: 171,421,443 (GRCm39) Q603* probably null Het
Mis18bp1 A C 12: 65,205,280 (GRCm39) N14K possibly damaging Het
Mmrn1 G T 6: 60,937,797 (GRCm39) C265F probably damaging Het
Mrgprb5 C T 7: 47,817,809 (GRCm39) E309K probably benign Het
Nrtn T C 17: 57,058,504 (GRCm39) T166A probably damaging Het
Odr4 A G 1: 150,262,103 (GRCm39) probably null Het
Or8g50 T C 9: 39,648,146 (GRCm39) F12L probably damaging Het
Osbpl7 T A 11: 96,947,098 (GRCm39) S266R probably damaging Het
Pcdhb11 T C 18: 37,555,549 (GRCm39) I293T probably damaging Het
Pes1 A G 11: 3,927,986 (GRCm39) Y546C probably damaging Het
Pth1r A T 9: 110,551,339 (GRCm39) W587R probably benign Het
Rasgrf2 A G 13: 92,174,789 (GRCm39) Y147H probably damaging Het
Rbbp8 T A 18: 11,865,322 (GRCm39) L737* probably null Het
Rcor3 A T 1: 191,810,217 (GRCm39) F153L probably damaging Het
Rev3l G A 10: 39,682,929 (GRCm39) C349Y probably damaging Het
Rnf115 C T 3: 96,695,889 (GRCm39) T225M probably benign Het
Rnf157 A G 11: 116,250,098 (GRCm39) V200A probably damaging Het
Scfd2 T C 5: 74,372,917 (GRCm39) T653A probably benign Het
Sdccag8 T C 1: 176,775,858 (GRCm39) Y590H probably damaging Het
Sema4d T A 13: 51,877,654 (GRCm39) K59N probably benign Het
Serpinb7 C A 1: 107,379,563 (GRCm39) H323Q probably damaging Het
Setx T A 2: 29,034,821 (GRCm39) H435Q probably damaging Het
Sgk3 T C 1: 9,969,020 (GRCm39) S466P possibly damaging Het
Sgsm2 T C 11: 74,741,958 (GRCm39) M1011V probably damaging Het
Ssc4d G A 5: 135,993,538 (GRCm39) P106L probably benign Het
Taf7 T C 18: 37,775,784 (GRCm39) Q261R possibly damaging Het
Tbc1d2b T C 9: 90,152,553 (GRCm39) K71R possibly damaging Het
Tff3 C T 17: 31,348,508 (GRCm39) V15I probably benign Het
Tgfb3 C A 12: 86,124,589 (GRCm39) V40L possibly damaging Het
Timm10 T A 2: 84,657,992 (GRCm39) D2E possibly damaging Het
Ttc16 T A 2: 32,663,753 (GRCm39) N74I probably damaging Het
Ttll1 G A 15: 83,381,546 (GRCm39) T241I probably damaging Het
Uba6 T A 5: 86,260,603 (GRCm39) D992V probably damaging Het
Vmn1r25 T A 6: 57,955,480 (GRCm39) T270S probably benign Het
Vmn2r106 T C 17: 20,497,728 (GRCm39) I504V probably damaging Het
Vmn2r87 G T 10: 130,315,014 (GRCm39) H191N possibly damaging Het
Vnn1 C A 10: 23,775,303 (GRCm39) F184L possibly damaging Het
Vtn A T 11: 78,393,032 (GRCm39) I466F probably damaging Het
Zfp352 A C 4: 90,112,772 (GRCm39) D304A 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
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'- GTAGCTCTGGCACCAAAAGG -3'
(R):5'- TTCTTCAGTGACACCAGCC -3'

Sequencing Primer
(F):5'- GCTCTGGCACCAAAAGGAAATTTTG -3'
(R):5'- AGCCCTCACTACTACTCAGG -3'
Posted On 2015-09-24