Incidental Mutation 'R4854:Ift122'
ID 373786
Institutional Source Beutler Lab
Gene Symbol Ift122
Ensembl Gene ENSMUSG00000030323
Gene Name intraflagellar transport 122
Synonyms C86139, sopb, Wdr10
MMRRC Submission 042465-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4854 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 115830431-115903660 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 115839707 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 25 (T25A)
Ref Sequence ENSEMBL: ENSMUSP00000138535 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038234] [ENSMUST00000112923] [ENSMUST00000112925] [ENSMUST00000141305]
AlphaFold Q6NWV3
Predicted Effect probably benign
Transcript: ENSMUST00000038234
AA Change: T25A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000045468
Gene: ENSMUSG00000030323
AA Change: T25A

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 benign
Transcript: ENSMUST00000112923
AA Change: T25A

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000108545
Gene: ENSMUSG00000030323
AA Change: T25A

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 benign
Transcript: ENSMUST00000112925
AA Change: T25A

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000108547
Gene: ENSMUSG00000030323
AA Change: T25A

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: ENSMUST00000125889
Predicted Effect possibly damaging
Transcript: ENSMUST00000141305
AA Change: T25A

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000138535
Gene: ENSMUSG00000030323
AA Change: T25A

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
Meta Mutation Damage Score 0.0955 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 98% (103/105)
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810064F22Rik T A 9: 22,119,333 (GRCm39) noncoding transcript Het
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Abl1 T C 2: 31,669,022 (GRCm39) Y110H probably damaging Het
Ablim2 C T 5: 35,959,766 (GRCm39) R73C possibly damaging Het
Agbl3 G A 6: 34,762,219 (GRCm39) R73Q probably damaging Het
Agl C T 3: 116,572,267 (GRCm39) probably null Het
Amotl1 G A 9: 14,504,747 (GRCm39) Q191* probably null Het
Apbb1ip A G 2: 22,743,214 (GRCm39) K349E possibly damaging Het
Arhgap10 G A 8: 78,146,718 (GRCm39) Q229* probably null Het
Aspm C T 1: 139,405,810 (GRCm39) Q1566* probably null Het
B3gnt3 G A 8: 72,145,517 (GRCm39) R284C probably damaging Het
Bltp3b T G 10: 89,630,346 (GRCm39) V382G probably damaging Het
Brd4 A G 17: 32,439,211 (GRCm39) V423A probably damaging Het
Btbd9 A T 17: 30,743,839 (GRCm39) I221N probably damaging Het
Camp A G 9: 109,676,519 (GRCm39) V168A probably benign Het
Cd1d2 T A 3: 86,896,556 (GRCm39) probably null Het
Cdkn2d A T 9: 21,202,223 (GRCm39) V8D probably benign Het
Cimap1a A G 7: 140,429,375 (GRCm39) Y168C probably damaging Het
Clec4g T C 8: 3,766,534 (GRCm39) N256D probably damaging Het
Clspn A G 4: 126,469,743 (GRCm39) I771V probably benign Het
Cntn6 A G 6: 104,836,436 (GRCm39) E862G possibly damaging Het
Col6a5 T C 9: 105,775,950 (GRCm39) T1702A probably benign Het
Dnah7a T C 1: 53,745,888 (GRCm39) probably benign Het
Dubr T C 16: 50,552,886 (GRCm39) noncoding transcript Het
Dusp26 G A 8: 31,584,165 (GRCm39) V91M probably damaging Het
Edc4 A T 8: 106,614,557 (GRCm39) probably benign Het
F5 C T 1: 164,019,715 (GRCm39) A730V probably damaging Het
Foxf1 A G 8: 121,813,553 (GRCm39) T358A probably benign Het
Frem1 A T 4: 82,834,995 (GRCm39) N1810K possibly damaging Het
Galc A T 12: 98,223,136 (GRCm39) F87I probably damaging Het
Gars1 A G 6: 55,023,403 (GRCm39) D66G probably damaging Het
Gbp11 G A 5: 105,473,374 (GRCm39) L460F probably damaging Het
Gdf7 T C 12: 8,348,014 (GRCm39) I436V probably damaging Het
Gigyf2 C T 1: 87,282,135 (GRCm39) probably benign Het
Gm12239 T C 11: 55,906,779 (GRCm39) noncoding transcript Het
Gm5592 A C 7: 40,866,895 (GRCm39) probably benign Het
Gp2 A T 7: 119,051,422 (GRCm39) D264E possibly damaging Het
Gphn G A 12: 78,673,984 (GRCm39) V526M probably damaging Het
Grid1 A G 14: 35,043,598 (GRCm39) I318V probably benign Het
Grm2 C A 9: 106,531,331 (GRCm39) V53F possibly damaging Het
Gtpbp1 T C 15: 79,603,406 (GRCm39) S632P probably benign Het
H2-M1 A G 17: 36,980,950 (GRCm39) F329L probably benign Het
Hecw1 T A 13: 14,491,477 (GRCm39) D92V probably benign Het
Hgh1 T C 15: 76,253,382 (GRCm39) L76P probably damaging Het
Idi2 C A 13: 9,007,879 (GRCm39) N63K probably benign Het
Itgb2l A T 16: 96,227,317 (GRCm39) C575* probably null Het
Jup A G 11: 100,273,867 (GRCm39) S225P possibly damaging Het
Kcng3 A T 17: 83,895,735 (GRCm39) C244S probably damaging Het
Klhl2 T A 8: 65,287,111 (GRCm39) M46L possibly damaging Het
Ksr1 A T 11: 78,918,528 (GRCm39) I460N probably damaging Het
Lama3 T A 18: 12,544,599 (GRCm39) F314Y probably benign Het
Lbp T C 2: 158,169,438 (GRCm39) V421A possibly damaging Het
Lcp1 G A 14: 75,437,929 (GRCm39) G113D probably damaging Het
Lrp1b A T 2: 41,001,089 (GRCm39) L2045H probably damaging Het
Mbd2 G T 18: 70,701,806 (GRCm39) D107Y unknown Het
Ms4a14 C T 19: 11,287,733 (GRCm39) V96I possibly damaging Het
N4bp2l2 C T 5: 150,585,516 (GRCm39) E155K probably benign Het
Nbeal2 T G 9: 110,460,464 (GRCm39) H1790P probably damaging Het
Nsg2 G A 11: 31,981,806 (GRCm39) G84R probably benign Het
Or10ad1b A C 15: 98,125,425 (GRCm39) F34V possibly damaging Het
Or12e10 A G 2: 87,640,934 (GRCm39) T257A probably damaging Het
P2rx2 T C 5: 110,488,793 (GRCm39) N224D probably damaging Het
P2rx5 A T 11: 73,062,605 (GRCm39) E438V probably benign Het
Paip1 C A 13: 119,586,425 (GRCm39) probably benign Het
Pik3c2g T A 6: 139,714,505 (GRCm39) V219E probably damaging Het
Ppp1r12b T C 1: 134,801,689 (GRCm39) E509G probably damaging Het
Ppp1r15a T C 7: 45,174,797 (GRCm39) S4G probably benign Het
Ppp5c T C 7: 16,742,947 (GRCm39) S224G probably benign Het
Prr30 T G 14: 101,435,879 (GRCm39) I228L probably benign Het
Purg A G 8: 33,877,342 (GRCm39) I327V possibly damaging Het
Ralb T C 1: 119,403,645 (GRCm39) T161A probably benign Het
Ripor3 T C 2: 167,834,733 (GRCm39) R253G probably benign Het
Scgb2b6 T C 7: 31,317,257 (GRCm39) noncoding transcript Het
Setd5 G T 6: 113,128,360 (GRCm39) G1438W probably damaging Het
Sh3rf3 T A 10: 58,649,545 (GRCm39) L50Q possibly damaging Het
Sipa1l2 G T 8: 126,200,340 (GRCm39) T662K probably damaging Het
Skint5 A G 4: 113,437,725 (GRCm39) L1021S unknown Het
Slc22a23 T C 13: 34,387,924 (GRCm39) S391G probably benign Het
Slc4a5 G A 6: 83,247,999 (GRCm39) V402I probably benign Het
Slco4c1 G A 1: 96,768,953 (GRCm39) P303L probably damaging Het
Spink5 A T 18: 44,153,908 (GRCm39) *1018C probably null Het
Stag3 T A 5: 138,294,956 (GRCm39) probably null Het
Tmem117 T C 15: 94,992,569 (GRCm39) F410L probably damaging Het
Tmod1 A G 4: 46,090,920 (GRCm39) K158E possibly damaging Het
Tpsb2 GGCTGCTGCTGCTGCTG GGCTGCTGCTGCTG 17: 25,585,536 (GRCm39) probably benign Het
Traf4 G A 11: 78,052,346 (GRCm39) Q100* probably null Het
Trpc4 A G 3: 54,209,639 (GRCm39) Y668C probably damaging Het
Ttn T A 2: 76,597,927 (GRCm39) N11335I possibly damaging Het
Usp39 A T 6: 72,302,665 (GRCm39) V463E probably benign Het
Vmn1r6 A C 6: 56,979,683 (GRCm39) Y115S probably benign Het
Vmn2r44 A G 7: 8,383,300 (GRCm39) I98T possibly damaging Het
Zfp462 A G 4: 55,010,668 (GRCm39) Y878C probably damaging Het
Zfp474 T C 18: 52,771,503 (GRCm39) I52T possibly damaging 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
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
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'- TGAGTGGAATTTGCAACCAGAG -3'
(R):5'- GCATTGCTCATGGGTTCCTATC -3'

Sequencing Primer
(F):5'- TGCAACCAGAGACAATTTTTAGCC -3'
(R):5'- CTCATGGGTTCCTATCTGATAGACAG -3'
Posted On 2016-03-01