Incidental Mutation 'R4546:Ift122'
ID 333774
Institutional Source Beutler Lab
Gene Symbol Ift122
Ensembl Gene ENSMUSG00000030323
Gene Name intraflagellar transport 122
Synonyms C86139, sopb, Wdr10
MMRRC Submission 041780-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4546 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 115830431-115903660 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 115867549 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 433 (L433Q)
Ref Sequence ENSEMBL: ENSMUSP00000045468 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038234] [ENSMUST00000112923] [ENSMUST00000112925] [ENSMUST00000141305]
AlphaFold Q6NWV3
Predicted Effect probably damaging
Transcript: ENSMUST00000038234
AA Change: L433Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045468
Gene: ENSMUSG00000030323
AA Change: L433Q

DomainStartEndE-ValueType
WD40 1 39 7.1e1 SMART
WD40 42 81 7.16e-10 SMART
WD40 83 120 1.54e0 SMART
WD40 122 160 1.43e0 SMART
WD40 162 208 2.29e1 SMART
WD40 210 249 1.91e1 SMART
WD40 251 290 3.45e-3 SMART
WD40 448 483 1.43e1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000112923
AA Change: L492Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000108545
Gene: ENSMUSG00000030323
AA Change: L492Q

DomainStartEndE-ValueType
WD40 1 39 7.1e1 SMART
WD40 42 81 7.16e-10 SMART
WD40 83 120 1.54e0 SMART
WD40 122 160 1.43e0 SMART
Blast:WD40 163 267 3e-46 BLAST
WD40 269 308 1.91e1 SMART
WD40 310 349 3.45e-3 SMART
WD40 507 542 1.43e1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000112925
AA Change: L433Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000108547
Gene: ENSMUSG00000030323
AA Change: L433Q

DomainStartEndE-ValueType
WD40 1 39 7.1e1 SMART
WD40 42 81 7.16e-10 SMART
WD40 83 120 1.54e0 SMART
WD40 122 160 1.43e0 SMART
WD40 162 208 2.29e1 SMART
WD40 210 249 1.91e1 SMART
WD40 251 290 3.45e-3 SMART
WD40 448 483 1.43e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138113
Predicted Effect probably benign
Transcript: ENSMUST00000141305
SMART Domains Protein: ENSMUSP00000138535
Gene: ENSMUSG00000030323

DomainStartEndE-ValueType
WD40 1 39 7.1e1 SMART
WD40 42 81 7.16e-10 SMART
WD40 83 120 1.54e0 SMART
low complexity region 124 134 N/A INTRINSIC
low complexity region 162 176 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146950
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152092
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149083
Meta Mutation Damage Score 0.7417 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 97% (65/67)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This cytoplasmic protein contains seven WD repeats and an AF-2 domain which function by recruiting coregulatory molecules and in transcriptional activation. Mutations in this gene cause cranioectodermal dysplasia-1. A related pseudogene is located on chromosome 3. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygotes for a null mutation display embryonic lethality during organogenesis with exencephaly, a ventralized caudal neural tube, preaxial polydactyly, abnormal cilia, and left-right patterning defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930012K11Rik G A 14: 70,393,927 (GRCm39) S236L probably benign Het
Ahcyl C T 16: 45,974,330 (GRCm39) C349Y possibly damaging Het
Alg9 C T 9: 50,716,654 (GRCm39) T409M possibly damaging Het
Alpi T A 1: 87,026,839 (GRCm39) Y413F probably damaging Het
Asmt T C X: 169,110,230 (GRCm39) probably null Het
Atf7 A G 15: 102,442,762 (GRCm39) V449A probably benign Het
Bnc2 A G 4: 84,210,213 (GRCm39) F744L probably benign Het
Ccnyl1 G T 1: 64,762,735 (GRCm39) M347I probably benign Het
Cdk13 T C 13: 17,941,159 (GRCm39) K21R probably damaging Het
Cenpf A C 1: 189,386,847 (GRCm39) L1811R probably damaging Het
Cfap91 C T 16: 38,155,885 (GRCm39) V113I probably benign Het
Cr2 A G 1: 194,853,349 (GRCm39) I43T possibly damaging Het
Cspg4 T A 9: 56,795,913 (GRCm39) L1216Q possibly damaging Het
Cylc2 A T 4: 51,229,840 (GRCm39) D394V unknown Het
Cylc2 C G 4: 51,229,651 (GRCm39) T331R unknown Het
Dcaf8 T C 1: 172,007,460 (GRCm39) probably benign Het
Dlec1 A T 9: 118,957,146 (GRCm39) I796F probably damaging Het
Dnah12 A T 14: 26,494,971 (GRCm39) Q1343L probably damaging Het
Dnajc21 T C 15: 10,447,183 (GRCm39) R522G probably benign Het
F2rl3 C T 8: 73,489,211 (GRCm39) A146V probably benign Het
Fastkd1 C T 2: 69,542,655 (GRCm39) E51K probably damaging Het
Glrb T C 3: 80,786,993 (GRCm39) S57G probably damaging Het
Gm5507 T A 18: 54,117,409 (GRCm39) noncoding transcript Het
Golga4 A G 9: 118,385,913 (GRCm39) K22E probably damaging Het
Hdac1-ps A T 17: 78,800,388 (GRCm39) T460S probably benign Het
Il21r A G 7: 125,228,071 (GRCm39) R181G probably damaging Het
Il5ra G T 6: 106,715,459 (GRCm39) S125* probably null Het
Kdm7a T C 6: 39,152,406 (GRCm39) R97G probably benign Het
Lepr T A 4: 101,671,838 (GRCm39) I954N probably benign Het
Lims1 T C 10: 58,254,612 (GRCm39) probably benign Het
Mest T C 6: 30,740,679 (GRCm39) W13R probably damaging Het
Mfn2 A G 4: 147,971,909 (GRCm39) V224A probably benign Het
Muc15 T C 2: 110,567,844 (GRCm39) S330P probably damaging Het
Ncapg T C 5: 45,828,554 (GRCm39) F102L probably damaging Het
Nkd2 T C 13: 73,971,475 (GRCm39) D187G probably benign Het
Nphp1 C T 2: 127,607,939 (GRCm39) probably null Het
Or10ag59 T C 2: 87,405,530 (GRCm39) F34S probably benign Het
Or1e19 T C 11: 73,316,012 (GRCm39) N266D probably benign Het
Or2a12 C T 6: 42,904,348 (GRCm39) S61L probably damaging Het
Osbpl6 T C 2: 76,414,836 (GRCm39) V409A possibly damaging Het
Pdhx A T 2: 102,903,742 (GRCm39) L18Q probably null Het
Pear1 C T 3: 87,661,968 (GRCm39) G469D probably damaging Het
Plec T C 15: 76,065,757 (GRCm39) T1506A probably benign Het
Plod3 T A 5: 137,017,801 (GRCm39) D192E possibly damaging Het
Rbks T C 5: 31,781,912 (GRCm39) N296S probably benign Het
Sema3c G A 5: 17,899,770 (GRCm39) V421I probably benign Het
Slc15a4 A G 5: 127,681,600 (GRCm39) probably null Het
Slc7a8 C G 14: 54,973,247 (GRCm39) G240A possibly damaging Het
Tmem200c A G 17: 69,149,166 (GRCm39) D583G probably benign Het
Trpm6 A G 19: 18,809,841 (GRCm39) Y1079C probably damaging Het
Ttn T C 2: 76,652,932 (GRCm39) probably null Het
Vcp T C 4: 42,988,813 (GRCm39) probably benign Het
Vmn2r78 T C 7: 86,603,811 (GRCm39) V663A probably damaging Het
Vmn2r9 T G 5: 108,995,551 (GRCm39) M366L probably benign Het
Wdr11 A G 7: 129,230,729 (GRCm39) E878G probably damaging Het
Zan C G 5: 137,382,096 (GRCm39) M5150I unknown Het
Other mutations in Ift122
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00227:Ift122 APN 6 115,894,018 (GRCm39) missense probably benign 0.10
IGL00783:Ift122 APN 6 115,882,863 (GRCm39) missense probably benign
IGL00784:Ift122 APN 6 115,882,863 (GRCm39) missense probably benign
IGL00799:Ift122 APN 6 115,854,497 (GRCm39) missense probably damaging 1.00
IGL00908:Ift122 APN 6 115,890,870 (GRCm39) missense probably benign 0.00
IGL01012:Ift122 APN 6 115,876,452 (GRCm39) missense probably damaging 0.99
IGL01444:Ift122 APN 6 115,861,340 (GRCm39) missense probably benign 0.08
IGL01451:Ift122 APN 6 115,889,565 (GRCm39) critical splice donor site probably null
IGL01940:Ift122 APN 6 115,864,332 (GRCm39) splice site probably benign
IGL02089:Ift122 APN 6 115,902,398 (GRCm39) missense probably benign 0.00
IGL02331:Ift122 APN 6 115,864,285 (GRCm39) missense probably damaging 1.00
IGL02929:Ift122 APN 6 115,879,838 (GRCm39) missense probably damaging 1.00
IGL03169:Ift122 APN 6 115,882,922 (GRCm39) splice site probably benign
PIT1430001:Ift122 UTSW 6 115,902,705 (GRCm39) splice site probably benign
R0158:Ift122 UTSW 6 115,901,445 (GRCm39) splice site probably benign
R0496:Ift122 UTSW 6 115,882,863 (GRCm39) missense probably benign
R1065:Ift122 UTSW 6 115,852,286 (GRCm39) splice site probably null
R1670:Ift122 UTSW 6 115,900,844 (GRCm39) missense probably benign 0.05
R1861:Ift122 UTSW 6 115,868,889 (GRCm39) missense probably damaging 1.00
R1889:Ift122 UTSW 6 115,871,382 (GRCm39) critical splice donor site probably null
R1990:Ift122 UTSW 6 115,901,328 (GRCm39) missense probably damaging 1.00
R2362:Ift122 UTSW 6 115,861,311 (GRCm39) missense probably damaging 0.99
R2385:Ift122 UTSW 6 115,889,483 (GRCm39) missense probably benign 0.21
R3734:Ift122 UTSW 6 115,902,462 (GRCm39) splice site probably benign
R3800:Ift122 UTSW 6 115,902,867 (GRCm39) missense probably benign 0.03
R3981:Ift122 UTSW 6 115,890,882 (GRCm39) missense probably benign 0.02
R4289:Ift122 UTSW 6 115,900,852 (GRCm39) missense probably damaging 1.00
R4545:Ift122 UTSW 6 115,867,549 (GRCm39) missense probably damaging 1.00
R4641:Ift122 UTSW 6 115,865,726 (GRCm39) nonsense probably null
R4815:Ift122 UTSW 6 115,858,517 (GRCm39) missense possibly damaging 0.95
R4854:Ift122 UTSW 6 115,839,707 (GRCm39) missense possibly damaging 0.61
R4928:Ift122 UTSW 6 115,892,819 (GRCm39) utr 3 prime probably benign
R5021:Ift122 UTSW 6 115,841,333 (GRCm39) missense probably benign 0.41
R5121:Ift122 UTSW 6 115,889,495 (GRCm39) missense probably benign 0.04
R5200:Ift122 UTSW 6 115,897,340 (GRCm39) missense probably damaging 0.99
R5549:Ift122 UTSW 6 115,868,983 (GRCm39) missense probably damaging 1.00
R6111:Ift122 UTSW 6 115,852,247 (GRCm39) missense probably damaging 1.00
R6141:Ift122 UTSW 6 115,892,972 (GRCm39) missense probably damaging 0.99
R6766:Ift122 UTSW 6 115,903,204 (GRCm39) missense probably benign 0.15
R7379:Ift122 UTSW 6 115,903,263 (GRCm39) missense probably benign
R7402:Ift122 UTSW 6 115,871,283 (GRCm39) missense probably benign 0.00
R7436:Ift122 UTSW 6 115,903,263 (GRCm39) missense probably benign
R7437:Ift122 UTSW 6 115,903,263 (GRCm39) missense probably benign
R7438:Ift122 UTSW 6 115,903,263 (GRCm39) missense probably benign
R7517:Ift122 UTSW 6 115,867,543 (GRCm39) missense probably benign 0.37
R7978:Ift122 UTSW 6 115,897,313 (GRCm39) missense probably benign 0.37
R8492:Ift122 UTSW 6 115,863,966 (GRCm39) missense probably benign 0.02
R8493:Ift122 UTSW 6 115,887,292 (GRCm39) missense probably benign 0.01
R8669:Ift122 UTSW 6 115,900,252 (GRCm39) missense probably damaging 0.98
R8867:Ift122 UTSW 6 115,857,632 (GRCm39) missense probably damaging 1.00
R8887:Ift122 UTSW 6 115,868,880 (GRCm39) missense probably benign 0.00
R8947:Ift122 UTSW 6 115,901,368 (GRCm39) missense probably benign
R8978:Ift122 UTSW 6 115,902,769 (GRCm39) missense possibly damaging 0.78
R9149:Ift122 UTSW 6 115,867,492 (GRCm39) missense probably damaging 1.00
R9571:Ift122 UTSW 6 115,857,628 (GRCm39) missense possibly damaging 0.50
R9573:Ift122 UTSW 6 115,857,646 (GRCm39) missense probably benign
R9677:Ift122 UTSW 6 115,897,357 (GRCm39) missense probably benign 0.16
Z1176:Ift122 UTSW 6 115,892,955 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGAAGAGCCAGCGTTAGATCAC -3'
(R):5'- AGCATGCTGTGAGTCTGAGG -3'

Sequencing Primer
(F):5'- AGCGTTAGATCACCACTGCTG -3'
(R):5'- TGTGAGTCTGAGGGCCACAG -3'
Posted On 2015-08-18