Incidental Mutation 'R2509:Ift172'
ID 251715
Institutional Source Beutler Lab
Gene Symbol Ift172
Ensembl Gene ENSMUSG00000038564
Gene Name intraflagellar transport 172
Synonyms 4930553F24Rik, wim, avc1
MMRRC Submission 040415-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2509 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 31410623-31448458 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31420312 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 1108 (N1108S)
Ref Sequence ENSEMBL: ENSMUSP00000049335 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041565]
AlphaFold Q6VH22
Predicted Effect probably benign
Transcript: ENSMUST00000041565
AA Change: N1108S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000049335
Gene: ENSMUSG00000038564
AA Change: N1108S

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 0.0639 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 96% (105/109)
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: 108 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik T C 3: 124,200,102 (GRCm39) I497V probably benign Het
4930571K23Rik C A 7: 124,968,311 (GRCm39) noncoding transcript Het
Abca17 G T 17: 24,508,587 (GRCm39) probably benign Het
Ablim1 C T 19: 57,140,791 (GRCm39) R196Q probably damaging Het
Acot11 T C 4: 106,612,516 (GRCm39) I379V possibly damaging Het
Acot4 G A 12: 84,088,647 (GRCm39) G165D probably damaging Het
Agrn A T 4: 156,250,881 (GRCm39) probably null Het
Ahctf1 T C 1: 179,598,258 (GRCm39) S945G possibly damaging Het
Akr1c13 C T 13: 4,248,583 (GRCm39) R263C probably damaging Het
Arfgap1 T A 2: 180,615,846 (GRCm39) probably benign Het
Arhgef3 A G 14: 27,101,633 (GRCm39) K103R probably damaging Het
Cabp1 A T 5: 115,310,843 (GRCm39) N211K probably damaging Het
Cacna1c T A 6: 118,711,943 (GRCm39) D261V probably damaging Het
Car11 G A 7: 45,350,783 (GRCm39) G93E probably damaging Het
Card10 A G 15: 78,664,473 (GRCm39) I821T probably benign Het
Cast T C 13: 74,885,735 (GRCm39) I277V probably benign Het
Cenpj T C 14: 56,769,694 (GRCm39) K1165R probably null Het
Cenpk A G 13: 104,370,675 (GRCm39) probably null Het
Cfap251 A G 5: 123,394,169 (GRCm39) K353E probably benign Het
Cmya5 T C 13: 93,230,066 (GRCm39) Q1674R probably benign Het
Cnnm1 T A 19: 43,430,325 (GRCm39) V481D probably damaging Het
Cracdl T C 1: 37,664,381 (GRCm39) M506V probably benign Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Cyp2c50 G A 19: 40,079,013 (GRCm39) V119I probably benign Het
Dnah7b A G 1: 46,234,447 (GRCm39) T1460A probably damaging Het
Dnah8 G A 17: 30,994,019 (GRCm39) D3379N probably benign Het
Dnajc4 C T 19: 6,968,111 (GRCm39) R55H probably damaging Het
Ebf4 C T 2: 130,148,482 (GRCm39) R98* probably null Het
Epha4 G A 1: 77,488,339 (GRCm39) A47V possibly damaging Het
Ercc8 T C 13: 108,320,251 (GRCm39) probably benign Het
Exo1 T C 1: 175,733,399 (GRCm39) F75S probably damaging Het
Fam168a G T 7: 100,483,391 (GRCm39) probably null Het
Fat3 G A 9: 15,836,310 (GRCm39) R4065W possibly damaging Het
Gm5431 T A 11: 48,779,536 (GRCm39) N740I probably benign Het
Gm5900 T A 7: 104,599,571 (GRCm39) noncoding transcript Het
Gpi1 A G 7: 33,905,348 (GRCm39) S359P probably damaging Het
Gpr156 A G 16: 37,768,149 (GRCm39) R22G probably benign Het
Greb1 A G 12: 16,774,923 (GRCm39) V158A probably damaging Het
Grin2c T A 11: 115,141,894 (GRCm39) K842* probably null Het
Gsta5 T A 9: 78,202,089 (GRCm39) M1K probably null Het
Hnf4a T A 2: 163,408,161 (GRCm39) L329Q probably damaging Het
Hsp90ab1 A G 17: 45,880,267 (GRCm39) L92P probably damaging Het
Ido1 T A 8: 25,074,501 (GRCm39) R290* probably null Het
Ifnlr1 G T 4: 135,432,559 (GRCm39) D332Y probably damaging Het
Igkv3-9 T A 6: 70,565,728 (GRCm39) M109K probably benign Het
Igsf10 T C 3: 59,239,287 (GRCm39) D298G probably damaging Het
Iqck T G 7: 118,475,505 (GRCm39) M98R probably benign Het
Klk1b1 T C 7: 43,618,803 (GRCm39) V60A probably damaging Het
Krtap1-3 C T 11: 99,481,653 (GRCm39) E165K unknown Het
Lair1 A G 7: 4,013,782 (GRCm39) L155P probably damaging Het
Maco1 A G 4: 134,531,699 (GRCm39) S657P probably damaging Het
Mast4 G T 13: 102,990,350 (GRCm39) S57Y probably damaging Het
Mical3 T C 6: 121,011,118 (GRCm39) H360R probably damaging Het
Muc5b A T 7: 141,412,798 (GRCm39) N1915Y unknown Het
Myh1 A G 11: 67,096,423 (GRCm39) I301V probably benign Het
Nck2 T A 1: 43,593,393 (GRCm39) V200E probably damaging Het
Odad4 T G 11: 100,444,361 (GRCm39) L222R probably damaging Het
Or2y1b T G 11: 49,209,048 (GRCm39) L225R probably damaging Het
Or4b12 T C 2: 90,096,030 (GRCm39) Y248C possibly damaging Het
Or4c109 T G 2: 88,817,775 (GRCm39) Y257S probably damaging Het
Or4f60 T A 2: 111,902,837 (GRCm39) L30F probably benign Het
Or4k38 C T 2: 111,166,076 (GRCm39) V116I probably damaging Het
Or52n2c G A 7: 104,574,894 (GRCm39) H26Y probably benign Het
Or5b101 T A 19: 13,005,058 (GRCm39) I212F probably damaging Het
Or8b12i A G 9: 20,082,525 (GRCm39) L114P probably damaging Het
Otoa C T 7: 120,759,695 (GRCm39) T1099I probably benign Het
Pask T A 1: 93,258,485 (GRCm39) I288F possibly damaging Het
Pcnx4 T C 12: 72,613,746 (GRCm39) W564R probably damaging Het
Pip4p1 A T 14: 51,167,115 (GRCm39) Y129* probably null Het
Pitpnm2 T C 5: 124,274,389 (GRCm39) E240G probably damaging Het
Ppp1r16b A G 2: 158,603,383 (GRCm39) Y436C possibly damaging Het
Pramel27 G A 4: 143,578,561 (GRCm39) V274I probably benign Het
Prkca T C 11: 107,870,032 (GRCm39) Y37C probably damaging Het
Rad18 T G 6: 112,652,883 (GRCm39) H238P possibly damaging Het
Rap1b T A 10: 117,654,444 (GRCm39) Q1L probably damaging Het
Rgs9 T C 11: 109,159,798 (GRCm39) Y178C probably benign Het
Rpl3l A T 17: 24,951,360 (GRCm39) D87V possibly damaging Het
Scrn2 T C 11: 96,923,992 (GRCm39) V292A possibly damaging Het
Sdad1 A G 5: 92,453,684 (GRCm39) Y35H probably benign Het
Sez6l2 T C 7: 126,552,944 (GRCm39) S177P probably benign Het
Sh3bp1 C T 15: 78,795,706 (GRCm39) P612S probably damaging Het
Shank1 T C 7: 44,001,148 (GRCm39) S956P unknown Het
Shank1 G A 7: 44,001,547 (GRCm39) A1089T unknown Het
Shprh G A 10: 11,042,468 (GRCm39) C817Y probably damaging Het
Spata22 C T 11: 73,236,593 (GRCm39) P300S probably damaging Het
Sstr2 A T 11: 113,515,749 (GRCm39) I223F probably damaging Het
Stom C T 2: 35,210,354 (GRCm39) A217T probably damaging Het
Stpg1 T C 4: 135,263,960 (GRCm39) V341A probably benign Het
Tagap A G 17: 8,147,586 (GRCm39) T99A probably benign Het
Tas1r2 A G 4: 139,387,162 (GRCm39) N207S probably damaging Het
Thbs2 A G 17: 14,906,105 (GRCm39) V265A probably benign Het
Thyn1 A G 9: 26,911,316 (GRCm39) R3G possibly damaging Het
Tia1 T A 6: 86,401,312 (GRCm39) probably null Het
Tktl2 A G 8: 66,965,504 (GRCm39) E354G probably benign Het
Tmc8 A G 11: 117,683,511 (GRCm39) T689A possibly damaging Het
Tmem11 A T 11: 60,755,807 (GRCm39) probably null Het
Tnik T C 3: 28,722,064 (GRCm39) V1310A probably damaging Het
Trappc10 A G 10: 78,047,357 (GRCm39) S380P possibly damaging Het
Trim8 C T 19: 46,503,734 (GRCm39) P429S probably benign Het
Ttn C A 2: 76,687,756 (GRCm39) probably benign Het
Ulk2 T C 11: 61,678,340 (GRCm39) Y793C probably benign Het
Vill G A 9: 118,899,370 (GRCm39) V337M possibly damaging Het
Vps53 C A 11: 75,957,661 (GRCm39) V364F possibly damaging Het
Zan A T 5: 137,454,848 (GRCm39) I1396N unknown Het
Zfa-ps A C 10: 52,420,339 (GRCm39) noncoding transcript Het
Zfp426 T C 9: 20,381,977 (GRCm39) T337A possibly damaging Het
Zfp536 T C 7: 37,267,403 (GRCm39) E671G possibly damaging Het
Zfp985 A G 4: 147,667,443 (GRCm39) T104A 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
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'- ACTTTTGCCTCAGCTTTTGGAG -3'
(R):5'- GTTTAGAGACCCGACACTTGG -3'

Sequencing Primer
(F):5'- GCCTCAGCTTTTGGAGTTATTTTTC -3'
(R):5'- TGATTAGCAGCAGGGTCCTGAC -3'
Posted On 2014-12-04