Incidental Mutation 'R7402:Ift122'
ID 574261
Institutional Source Beutler Lab
Gene Symbol Ift122
Ensembl Gene ENSMUSG00000030323
Gene Name intraflagellar transport 122
Synonyms C86139, sopb, Wdr10
MMRRC Submission 045484-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7402 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 115830431-115903660 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115871283 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 526 (V526A)
Ref Sequence ENSEMBL: ENSMUSP00000108547 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038234] [ENSMUST00000112923] [ENSMUST00000112925] [ENSMUST00000141305]
AlphaFold Q6NWV3
Predicted Effect probably benign
Transcript: ENSMUST00000038234
AA Change: V526A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000045468
Gene: ENSMUSG00000030323
AA Change: V526A

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
SMART Domains Protein: ENSMUSP00000108545
Gene: ENSMUSG00000030323
AA Change: V585A

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: V526A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000108547
Gene: ENSMUSG00000030323
AA Change: V526A

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: 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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 G T 14: 118,943,487 (GRCm39) P12Q probably damaging Het
Acsf3 A G 8: 123,507,163 (GRCm39) Y152C probably damaging Het
Adam22 T A 5: 8,145,049 (GRCm39) Q803L possibly damaging Het
Adamtsl3 G A 7: 82,227,825 (GRCm39) V1337I probably damaging Het
Adra1b T C 11: 43,666,845 (GRCm39) D464G possibly damaging Het
Alpk3 T A 7: 80,726,660 (GRCm39) I115K probably benign Het
Amdhd2 A G 17: 24,380,657 (GRCm39) S96P Het
Ankib1 T G 5: 3,819,586 (GRCm39) D111A probably benign Het
Arhgef2 A G 3: 88,540,873 (GRCm39) D216G probably damaging Het
Astn1 A T 1: 158,380,425 (GRCm39) probably benign Het
Atosa C A 9: 74,913,668 (GRCm39) Y107* probably null Het
Atrn T A 2: 130,789,520 (GRCm39) W328R probably damaging Het
Atxn7 A T 14: 14,095,427 (GRCm38) H375L probably damaging Het
Btaf1 A T 19: 36,980,915 (GRCm39) N1579Y probably damaging Het
Cacna1b A T 2: 24,497,671 (GRCm39) L2079Q probably benign Het
Ccdc102a T C 8: 95,629,981 (GRCm39) K520R probably damaging Het
Cd2ap T C 17: 43,116,054 (GRCm39) H602R possibly damaging Het
Cdkn2aip A G 8: 48,164,408 (GRCm39) V435A possibly damaging Het
Cenpf A T 1: 189,391,575 (GRCm39) Y735* probably null Het
Cep350 T A 1: 155,803,961 (GRCm39) I1041L probably benign Het
Ckap4 A G 10: 84,363,863 (GRCm39) V400A probably damaging Het
Comp T A 8: 70,829,854 (GRCm39) D359E probably benign Het
Coq10b A C 1: 55,100,500 (GRCm39) K61N probably benign Het
Csmd2 G A 4: 128,215,889 (GRCm39) S548N Het
Csmd2 A C 4: 128,215,888 (GRCm39) S548R Het
Ctif A G 18: 75,744,807 (GRCm39) I99T probably benign Het
Ctns T G 11: 73,083,903 (GRCm39) T40P possibly damaging Het
Cyp11b1 C T 15: 74,712,674 (GRCm39) R129H probably damaging Het
Cyp2c68 A T 19: 39,729,318 (GRCm39) N56K probably benign Het
D6Wsu163e A G 6: 126,938,968 (GRCm39) K401R probably damaging Het
Dstn T A 2: 143,780,368 (GRCm39) C23S probably benign Het
Fam72a A T 1: 131,466,613 (GRCm39) E132D probably damaging Het
Fam72a G T 1: 131,466,614 (GRCm39) E133* probably null Het
Gbp8 T A 5: 105,179,161 (GRCm39) I113F probably damaging Het
Gm3095 A T 14: 15,170,332 (GRCm39) R60S possibly damaging Het
Gpa33 A T 1: 165,980,263 (GRCm39) M109L probably damaging Het
Grik2 A G 10: 49,411,493 (GRCm39) L215P probably damaging Het
Gucy2g A C 19: 55,194,725 (GRCm39) F897L probably damaging Het
Hinfp A G 9: 44,209,314 (GRCm39) L295P probably damaging Het
Ighv5-12 T C 12: 113,665,853 (GRCm39) T82A probably benign Het
Il18rap T A 1: 40,564,111 (GRCm39) S76R probably benign Het
Itga6 A T 2: 71,683,897 (GRCm39) N1045I probably benign Het
Kctd21 A T 7: 96,996,970 (GRCm39) I148F possibly damaging Het
Kif28 T A 1: 179,567,644 (GRCm39) H42L probably benign Het
Kmt2c A C 5: 25,600,418 (GRCm39) C326W probably damaging Het
Knl1 T A 2: 118,925,707 (GRCm39) L1912* probably null Het
Lrfn1 A T 7: 28,158,947 (GRCm39) I289F probably damaging Het
Lrriq1 T C 10: 103,057,185 (GRCm39) K205R possibly damaging Het
Mbd5 A T 2: 49,147,566 (GRCm39) N592I probably damaging Het
Mbl2 A G 19: 30,216,802 (GRCm39) N205D possibly damaging Het
Mcm4 C A 16: 15,455,042 (GRCm39) M1I probably null Het
Mgat4a T A 1: 37,493,865 (GRCm39) H327L probably damaging Het
Miox A G 15: 89,219,206 (GRCm39) D16G probably benign Het
Mvk C A 5: 114,594,039 (GRCm39) P298Q possibly damaging Het
Nol6 A G 4: 41,118,699 (GRCm39) L726P probably damaging Het
Nos1 T C 5: 118,087,880 (GRCm39) I1381T probably benign Het
Nup98 A T 7: 101,784,144 (GRCm39) S1063T probably benign Het
Obscn T G 11: 58,886,275 (GRCm39) M7862L unknown Het
Obsl1 T C 1: 75,464,348 (GRCm39) T1653A probably benign Het
Odr4 A G 1: 150,262,107 (GRCm39) probably null Het
Or4c105 G T 2: 88,647,687 (GRCm39) M57I probably damaging Het
Or8g53 T A 9: 39,683,260 (GRCm39) T279S probably benign Het
Or8u9 A G 2: 86,001,546 (GRCm39) I205T probably benign Het
Or9q2 C T 19: 13,772,358 (GRCm39) V206I probably damaging Het
Pcdhb20 A G 18: 37,638,005 (GRCm39) Y177C probably benign Het
Pcdhb3 A C 18: 37,434,657 (GRCm39) I208L probably benign Het
Phlpp1 G T 1: 106,317,420 (GRCm39) G1214W probably damaging Het
Ppp4r3a A T 12: 101,025,053 (GRCm39) S149T possibly damaging Het
Pxdn T C 12: 30,052,438 (GRCm39) C872R probably damaging Het
Rarb A G 14: 16,548,419 (GRCm38) C101R probably damaging Het
Rcor3 A C 1: 191,812,283 (GRCm39) V114G probably benign Het
Rnpepl1 A G 1: 92,847,372 (GRCm39) Q653R probably benign Het
Rpap2 T A 5: 107,768,324 (GRCm39) Y387* probably null Het
Rttn C T 18: 89,004,035 (GRCm39) T343M possibly damaging Het
Samd11 T C 4: 156,333,230 (GRCm39) T333A probably benign Het
Six5 T C 7: 18,828,968 (GRCm39) L136P probably damaging Het
Slc12a5 T A 2: 164,824,852 (GRCm39) M419K probably benign Het
Slc22a21 T C 11: 53,851,226 (GRCm39) M179V probably benign Het
Slc35a4 A G 18: 36,813,570 (GRCm39) D6G unknown Het
Spdye4c A T 2: 128,434,261 (GRCm39) M1L probably benign Het
Svep1 A T 4: 58,069,699 (GRCm39) C2696S possibly damaging Het
Tceanc2 T C 4: 107,004,893 (GRCm39) N85S probably benign Het
Teddm2 G C 1: 153,726,344 (GRCm39) L124V probably benign Het
Teddm2 A T 1: 153,726,343 (GRCm39) L124Q probably damaging Het
Tgfbr1 T A 4: 47,405,623 (GRCm39) W409R probably damaging Het
Tkt A G 14: 30,280,755 (GRCm39) D62G probably damaging Het
Tnrc6b T A 15: 80,768,501 (GRCm39) V1054D probably damaging Het
Trpm7 C A 2: 126,641,126 (GRCm39) L1564F probably damaging Het
Vmn1r43 A T 6: 89,846,803 (GRCm39) C228S probably benign Het
Vmn2r106 T C 17: 20,487,883 (GRCm39) R839G probably damaging Het
Vmn2r5 G A 3: 64,403,176 (GRCm39) T523I probably benign Het
Vwa3b C T 1: 37,153,678 (GRCm39) Q507* probably null Het
Wrn C G 8: 33,738,994 (GRCm39) W1278S probably benign Het
Zfp281 T G 1: 136,553,190 (GRCm39) L56R probably damaging Het
Zfp407 G A 18: 84,579,661 (GRCm39) T484I probably benign Het
Zfp451 T C 1: 33,852,843 (GRCm39) T24A probably benign Het
Zfp607b T A 7: 27,392,919 (GRCm39) F16I probably damaging Het
Zfp638 T A 6: 83,905,670 (GRCm39) V41E 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
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
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'- CTAGGCTTTAAGAACAGGTTGGG -3'
(R):5'- ATGGGGCCGATCTTCTTCTC -3'

Sequencing Primer
(F):5'- GGTGAAAAGTGCGAGTGTTGTCAG -3'
(R):5'- GATCTTCTTCTCCAGAAACACATGG -3'
Posted On 2019-09-13