Incidental Mutation 'IGL02929:Ift122'
ID 364011
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ift122
Ensembl Gene ENSMUSG00000030323
Gene Name intraflagellar transport 122
Synonyms C86139, sopb, Wdr10
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02929
Quality Score
Status
Chromosome 6
Chromosomal Location 115830431-115903660 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 115879838 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 612 (D612G)
Ref Sequence ENSEMBL: ENSMUSP00000108547 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038234] [ENSMUST00000112923] [ENSMUST00000112925] [ENSMUST00000141305]
AlphaFold Q6NWV3
Predicted Effect possibly damaging
Transcript: ENSMUST00000038234
AA Change: D612G

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000045468
Gene: ENSMUSG00000030323
AA Change: D612G

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: D671G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000108545
Gene: ENSMUSG00000030323
AA Change: D671G

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: D612G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108547
Gene: ENSMUSG00000030323
AA Change: D612G

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: ENSMUST00000124283
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: ENSMUST00000155565
Coding Region Coverage
Validation Efficiency
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A330070K13Rik A G 5: 130,413,252 (GRCm39) probably null Het
Abcb5 T C 12: 118,908,674 (GRCm39) Y90C probably damaging Het
Accs T C 2: 93,674,566 (GRCm39) D112G probably damaging Het
Adam32 C A 8: 25,362,659 (GRCm39) V13L possibly damaging Het
Adgrb3 A G 1: 25,592,905 (GRCm39) V294A probably benign Het
Agt G T 8: 125,283,829 (GRCm39) A430E probably benign Het
Agxt2 T C 15: 10,388,379 (GRCm39) probably benign Het
Atp2a1 A T 7: 126,056,116 (GRCm39) I235N probably damaging Het
Atp8b1 T C 18: 64,694,733 (GRCm39) I516M possibly damaging Het
Atrx T C X: 104,923,512 (GRCm39) probably null Het
Brcc3 T C X: 74,479,105 (GRCm39) V117A possibly damaging Het
Casp8ap2 T C 4: 32,624,105 (GRCm39) probably benign Het
Ceacam3 T A 7: 16,892,115 (GRCm39) V286D probably damaging Het
Cpb1 T C 3: 20,329,630 (GRCm39) D32G probably benign Het
Cpsf1 C A 15: 76,486,327 (GRCm39) probably null Het
Dnai4 C T 4: 102,917,188 (GRCm39) W552* probably null Het
Dock2 A T 11: 34,218,048 (GRCm39) V1174E probably damaging Het
Dqx1 A G 6: 83,037,465 (GRCm39) probably benign Het
Ercc1 T C 7: 19,089,288 (GRCm39) probably null Het
Fn1 A G 1: 71,634,821 (GRCm39) probably null Het
Garre1 A T 7: 33,944,507 (GRCm39) M75K possibly damaging Het
Ice1 A G 13: 70,744,322 (GRCm39) L2087P probably damaging Het
Igkv6-25 A G 6: 70,192,929 (GRCm39) Y112C probably damaging Het
Kit C A 5: 75,801,429 (GRCm39) P572Q probably damaging Het
Kras A G 6: 145,177,815 (GRCm39) probably benign Het
Ltv1 T C 10: 13,067,970 (GRCm39) K6R possibly damaging Het
Man1a C T 10: 53,801,531 (GRCm39) V443I probably benign Het
Mat2b A C 11: 40,575,540 (GRCm39) D154E probably benign Het
Mtrf1 A G 14: 79,640,273 (GRCm39) K143E probably benign Het
Myh13 A C 11: 67,257,991 (GRCm39) I95L probably damaging Het
Myo7b A T 18: 32,127,978 (GRCm39) D571E probably benign Het
Nek10 T A 14: 14,821,119 (GRCm38) D28E possibly damaging Het
Npm2 T A 14: 70,889,678 (GRCm39) probably null Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Plcb2 G A 2: 118,543,715 (GRCm39) probably benign Het
Ppp1r3a A G 6: 14,719,810 (GRCm39) M368T probably benign Het
Rnf123 G T 9: 107,946,275 (GRCm39) T300K probably benign Het
Sbspon A G 1: 15,954,069 (GRCm39) probably benign Het
Slc52a2 G A 15: 76,424,776 (GRCm39) C338Y probably benign Het
Tdrd6 T A 17: 43,940,604 (GRCm39) Q148L possibly damaging Het
Tle5 T A 10: 81,400,672 (GRCm39) probably null Het
Trpc3 T A 3: 36,692,623 (GRCm39) K790* probably null Het
Ushbp1 C T 8: 71,847,120 (GRCm39) A171T probably damaging Het
Usp32 T C 11: 84,879,198 (GRCm39) T1504A probably benign 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
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
R4546: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
Posted On 2015-12-18