Incidental Mutation 'R9133:Ift172'
ID 693763
Institutional Source Beutler Lab
Gene Symbol Ift172
Ensembl Gene ENSMUSG00000038564
Gene Name intraflagellar transport 172
Synonyms 4930553F24Rik, wim, avc1
MMRRC Submission 068930-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9133 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 31410623-31448458 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31442867 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 140 (T140A)
Ref Sequence ENSEMBL: ENSMUSP00000049335 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041565] [ENSMUST00000201809]
AlphaFold Q6VH22
Predicted Effect probably benign
Transcript: ENSMUST00000041565
AA Change: T140A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000049335
Gene: ENSMUSG00000038564
AA Change: T140A

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: ENSMUST00000201809
SMART Domains Protein: ENSMUSP00000144425
Gene: ENSMUSG00000038564

DomainStartEndE-ValueType
WD40 2 44 3.8e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000202589
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (65/65)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat3 T A 17: 13,159,176 (GRCm39) R4S probably benign Het
Adamdec1 A T 14: 68,814,547 (GRCm39) C143* probably null Het
Adck5 A G 15: 76,460,612 (GRCm39) probably benign Het
Aebp2 A G 6: 140,579,441 (GRCm39) D226G probably damaging Het
Ascc3 A G 10: 50,630,175 (GRCm39) I1755V possibly damaging Het
Aspm C T 1: 139,419,266 (GRCm39) T2977M probably damaging Het
Cacna1a A G 8: 85,276,152 (GRCm39) S582G probably damaging Het
Card14 T C 11: 119,231,835 (GRCm39) F801S probably damaging Het
Casp16 T A 17: 23,771,003 (GRCm39) D134V probably damaging Het
Cmya5 A G 13: 93,234,108 (GRCm39) S327P possibly damaging Het
Cutc A T 19: 43,755,727 (GRCm39) D229V possibly damaging Het
Cyp21a1 C A 17: 35,023,419 (GRCm39) probably benign Het
Dnah10 A G 5: 124,859,423 (GRCm39) K2130R probably damaging Het
Dsc1 C T 18: 20,234,904 (GRCm39) S250N probably benign Het
Edc4 T C 8: 106,611,778 (GRCm39) probably null Het
Efcab8 G C 2: 153,646,861 (GRCm39) V397L unknown Het
Ehmt1 A T 2: 24,729,635 (GRCm39) I642K possibly damaging Het
Gjd2 T C 2: 113,842,039 (GRCm39) Q146R probably benign Het
Gm26661 A G 14: 7,791,936 (GRCm38) H117R unknown Het
H2-Oa T A 17: 34,313,505 (GRCm39) D185E probably damaging Het
Hjurp A T 1: 88,202,772 (GRCm39) Y71N possibly damaging Het
Hyal6 A G 6: 24,734,585 (GRCm39) R173G possibly damaging Het
Ica1 A T 6: 8,659,921 (GRCm39) V125D probably benign Het
Ighv9-4 T A 12: 114,263,883 (GRCm39) I17F probably benign Het
Igkv4-92 G T 6: 68,732,248 (GRCm39) T42N probably damaging Het
Kctd16 C A 18: 40,392,069 (GRCm39) P219Q probably damaging Het
Kdm5b A T 1: 134,530,323 (GRCm39) I445F probably benign Het
Ksr2 A G 5: 117,841,319 (GRCm39) T598A probably benign Het
Lrrn1 C T 6: 107,544,568 (GRCm39) T122I probably damaging Het
Mars2 A G 1: 55,276,721 (GRCm39) D108G possibly damaging Het
Ms4a14 A G 19: 11,281,038 (GRCm39) W507R Het
Ncoa3 A G 2: 165,910,381 (GRCm39) T1266A possibly damaging Het
Neb T C 2: 52,083,256 (GRCm39) K5650E possibly damaging Het
Nlrp4f T A 13: 65,332,883 (GRCm39) K92* probably null Het
Nme4 G T 17: 26,314,389 (GRCm39) A13E probably benign Het
Nova1 G T 12: 46,865,524 (GRCm39) A4E unknown Het
Nphs1 G T 7: 30,160,092 (GRCm39) E124* probably null Het
Or10d4 T A 9: 39,580,974 (GRCm39) I207N possibly damaging Het
Or10d4b T A 9: 39,534,809 (GRCm39) L128* probably null Het
Or5d14 T C 2: 87,880,782 (GRCm39) Y62C probably damaging Het
Pde8a C T 7: 80,982,619 (GRCm39) T746I probably damaging Het
Peg3 GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC 7: 6,712,167 (GRCm39) probably benign Het
Ranbp2 T C 10: 58,313,050 (GRCm39) S1257P probably damaging Het
Ranbp3 T C 17: 57,003,791 (GRCm39) probably null Het
Rasgrf1 A G 9: 89,793,600 (GRCm39) T126A probably benign Het
Rexo5 T G 7: 119,444,667 (GRCm39) L714R probably damaging Het
Rhobtb3 A G 13: 76,020,512 (GRCm39) Y597H probably damaging Het
Riox1 C G 12: 83,998,221 (GRCm39) Y252* probably null Het
Sh2d3c T C 2: 32,634,778 (GRCm39) Y186H possibly damaging Het
Slc16a7 T A 10: 125,066,536 (GRCm39) T368S probably benign Het
Slc25a26 G A 6: 94,511,143 (GRCm39) V107I Het
Slc4a5 A T 6: 83,203,217 (GRCm39) Y39F possibly damaging Het
Smarcad1 A G 6: 65,049,035 (GRCm39) K254E probably damaging Het
Sspo G T 6: 48,434,747 (GRCm39) V1080L possibly damaging Het
Thsd7b A T 1: 129,843,382 (GRCm39) T865S probably benign Het
Top1 C T 2: 160,545,591 (GRCm39) Q320* probably null Het
Trank1 T A 9: 111,220,770 (GRCm39) N2502K possibly damaging Het
Urad T C 5: 147,252,251 (GRCm39) H67R probably damaging Het
Vamp5 A C 6: 72,357,362 (GRCm39) probably null Het
Vmn1r62 A G 7: 5,679,062 (GRCm39) I248V probably benign Het
Wwc2 G T 8: 48,305,007 (GRCm39) Q873K unknown Het
Zcchc2 C A 1: 105,958,535 (GRCm39) S1002Y probably damaging Het
Zdhhc14 G A 17: 5,803,283 (GRCm39) R462H probably benign Het
Zfp788 A G 7: 41,299,484 (GRCm39) N707D Het
Zfp964 A G 8: 70,115,783 (GRCm39) T128A probably benign Het
Zkscan16 T C 4: 58,957,722 (GRCm39) L668S possibly 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
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
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'- AAGTACCTGACGATGGTGC -3'
(R):5'- GCAGCAGGGTTCCTTCTTTC -3'

Sequencing Primer
(F):5'- AGAGGATCCCCTTCCCAGAG -3'
(R):5'- TTTCCCCTGGAGCCCGAG -3'
Posted On 2022-01-20