Incidental Mutation 'IGL01012:Ift122'
ID 53615
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
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL01012
Quality Score
Status
Chromosome 6
Chromosomal Location 115853470-115926699 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 115899491 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 563 (Y563N)
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: Y563N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000045468
Gene: ENSMUSG00000030323
AA Change: Y563N

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: Y622N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000108545
Gene: ENSMUSG00000030323
AA Change: Y622N

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: Y563N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000108547
Gene: ENSMUSG00000030323
AA Change: Y563N

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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim3 A T 18: 61,839,701 M249K possibly damaging Het
Adamtsl1 T C 4: 86,342,189 F879S possibly damaging Het
Afap1l2 T C 19: 56,930,261 E30G probably damaging Het
Aqp9 A G 9: 71,130,549 probably benign Het
Arhgap17 A T 7: 123,286,568 probably benign Het
Arhgef10 T C 8: 14,979,977 S921P probably damaging Het
Atp6v0e2 T C 6: 48,537,815 I22T probably damaging Het
AY074887 C T 9: 54,950,679 probably benign Het
Bcl2l15 T A 3: 103,833,414 D65E probably damaging Het
C2cd6 A T 1: 58,997,348 probably benign Het
Ccdc138 G A 10: 58,540,915 probably null Het
Ccdc7b A G 8: 129,178,357 T159A possibly damaging Het
Ccser1 A G 6: 61,638,490 T659A probably benign Het
Cd300ld2 T A 11: 115,012,297 I241F probably benign Het
Cep192 T A 18: 67,812,406 N192K possibly damaging Het
Csmd1 T C 8: 15,917,341 K3174R probably benign Het
Dpy30 A T 17: 74,307,754 L65I probably damaging Het
Eci2 A T 13: 34,990,329 L83* probably null Het
F7 A T 8: 13,033,409 E183V probably damaging Het
Fam192a G A 8: 94,587,362 R104W probably damaging Het
Gabrg1 T C 5: 70,778,169 K214R probably benign Het
Galr2 A T 11: 116,283,170 T209S probably damaging Het
Gimap9 T C 6: 48,677,917 probably null Het
Gip C A 11: 96,025,459 F28L probably benign Het
Gpd2 A G 2: 57,364,530 N662S probably benign Het
Grik2 T G 10: 49,272,956 D511A probably damaging Het
Ipo8 A G 6: 148,789,063 probably benign Het
Islr T C 9: 58,157,228 E332G probably damaging Het
Itgb7 G A 15: 102,227,585 S5L probably benign Het
Itpr2 G A 6: 146,345,161 R1087W probably damaging Het
Katnal2 C A 18: 77,017,554 V66F probably damaging Het
Krt81 T C 15: 101,461,019 D284G probably benign Het
Krtap4-8 T A 11: 99,780,005 probably benign Het
Map1s C A 8: 70,913,910 N486K probably benign Het
Med13l G A 5: 118,734,028 D842N probably damaging Het
Mef2c T A 13: 83,655,595 M306K probably damaging Het
Myb C T 10: 21,146,260 V377I probably benign Het
Myocd C T 11: 65,184,625 G558R possibly damaging Het
Nars G T 18: 64,504,968 A305E probably damaging Het
Neb A T 2: 52,196,361 N5233K probably benign Het
Nipsnap2 T C 5: 129,746,439 I181T possibly damaging Het
Olfr1496 T C 19: 13,781,573 probably benign Het
Olfr960 A T 9: 39,623,365 M81L probably benign Het
P3h2 A C 16: 25,987,248 C282G probably damaging Het
Pcgf5 T A 19: 36,442,868 C167S probably damaging Het
Pck2 T C 14: 55,544,069 probably benign Het
Peli2 C T 14: 48,252,730 R169* probably null Het
Pramef25 T A 4: 143,950,214 probably benign Het
Ralgapa2 T A 2: 146,421,739 Q686L possibly damaging Het
Scap C A 9: 110,362,420 P50H probably damaging Het
Sh3rf2 T A 18: 42,054,192 D125E possibly damaging Het
Slc25a38 T C 9: 120,116,494 probably benign Het
Slc35a5 A G 16: 45,143,832 V346A probably damaging Het
Smad4 T A 18: 73,675,809 N129I probably damaging Het
Sod2 C T 17: 13,013,577 A163V possibly damaging Het
Spred3 T A 7: 29,161,523 probably benign Het
Stag1 C A 9: 100,855,859 A423E possibly damaging Het
Stk17b A T 1: 53,761,037 S261T probably benign Het
Stx3 T C 19: 11,791,788 K58E probably damaging Het
Timm10b C A 7: 105,641,138 Y79* probably null Het
Tmem204 T C 17: 25,070,355 D97G probably damaging Het
Tnfrsf25 T C 4: 152,118,428 V181A probably benign Het
Trim54 T G 5: 31,136,958 S313A probably benign Het
Unc79 T A 12: 103,112,455 D1433E probably damaging Het
Vmn2r23 A G 6: 123,729,596 T462A probably benign Het
Wdr27 T A 17: 14,926,247 H162L probably damaging Het
Other mutations in Ift122
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00227:Ift122 APN 6 115917057 missense probably benign 0.10
IGL00783:Ift122 APN 6 115905902 missense probably benign
IGL00784:Ift122 APN 6 115905902 missense probably benign
IGL00799:Ift122 APN 6 115877536 missense probably damaging 1.00
IGL00908:Ift122 APN 6 115913909 missense probably benign 0.00
IGL01444:Ift122 APN 6 115884379 missense probably benign 0.08
IGL01451:Ift122 APN 6 115912604 critical splice donor site probably null
IGL01940:Ift122 APN 6 115887371 splice site probably benign
IGL02089:Ift122 APN 6 115925437 missense probably benign 0.00
IGL02331:Ift122 APN 6 115887324 missense probably damaging 1.00
IGL02929:Ift122 APN 6 115902877 missense probably damaging 1.00
IGL03169:Ift122 APN 6 115905961 splice site probably benign
PIT1430001:Ift122 UTSW 6 115925744 splice site probably benign
R0158:Ift122 UTSW 6 115924484 splice site probably benign
R0496:Ift122 UTSW 6 115905902 missense probably benign
R1065:Ift122 UTSW 6 115875325 splice site probably null
R1670:Ift122 UTSW 6 115923883 missense probably benign 0.05
R1861:Ift122 UTSW 6 115891928 missense probably damaging 1.00
R1889:Ift122 UTSW 6 115894421 critical splice donor site probably null
R1990:Ift122 UTSW 6 115924367 missense probably damaging 1.00
R2362:Ift122 UTSW 6 115884350 missense probably damaging 0.99
R2385:Ift122 UTSW 6 115912522 missense probably benign 0.21
R3734:Ift122 UTSW 6 115925501 splice site probably benign
R3800:Ift122 UTSW 6 115925906 missense probably benign 0.03
R3981:Ift122 UTSW 6 115913921 missense probably benign 0.02
R4289:Ift122 UTSW 6 115923891 missense probably damaging 1.00
R4545:Ift122 UTSW 6 115890588 missense probably damaging 1.00
R4546:Ift122 UTSW 6 115890588 missense probably damaging 1.00
R4641:Ift122 UTSW 6 115888765 nonsense probably null
R4815:Ift122 UTSW 6 115881556 missense possibly damaging 0.95
R4854:Ift122 UTSW 6 115862746 missense possibly damaging 0.61
R4928:Ift122 UTSW 6 115915858 utr 3 prime probably benign
R5021:Ift122 UTSW 6 115864372 missense probably benign 0.41
R5121:Ift122 UTSW 6 115912534 missense probably benign 0.04
R5200:Ift122 UTSW 6 115920379 missense probably damaging 0.99
R5549:Ift122 UTSW 6 115892022 missense probably damaging 1.00
R6111:Ift122 UTSW 6 115875286 missense probably damaging 1.00
R6141:Ift122 UTSW 6 115916011 missense probably damaging 0.99
R6766:Ift122 UTSW 6 115926243 missense probably benign 0.15
R7379:Ift122 UTSW 6 115926302 missense probably benign
R7402:Ift122 UTSW 6 115894322 missense probably benign 0.00
R7436:Ift122 UTSW 6 115926302 missense probably benign
R7437:Ift122 UTSW 6 115926302 missense probably benign
R7438:Ift122 UTSW 6 115926302 missense probably benign
R7517:Ift122 UTSW 6 115890582 missense probably benign 0.37
R7978:Ift122 UTSW 6 115920352 missense probably benign 0.37
R8492:Ift122 UTSW 6 115887005 missense probably benign 0.02
R8493:Ift122 UTSW 6 115910331 missense probably benign 0.01
R8669:Ift122 UTSW 6 115923291 missense probably damaging 0.98
R8867:Ift122 UTSW 6 115880671 missense probably damaging 1.00
R8887:Ift122 UTSW 6 115891919 missense probably benign 0.00
R8947:Ift122 UTSW 6 115924407 missense probably benign
R8978:Ift122 UTSW 6 115925808 missense possibly damaging 0.78
R9149:Ift122 UTSW 6 115890531 missense probably damaging 1.00
Z1176:Ift122 UTSW 6 115915994 missense probably damaging 1.00
Posted On 2013-06-28