Incidental Mutation 'R9329:Ift81'
ID 706710
Institutional Source Beutler Lab
Gene Symbol Ift81
Ensembl Gene ENSMUSG00000029469
Gene Name intraflagellar transport 81
Synonyms Cdv1, CDV-1R
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9329 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 122688267-122752581 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to C at 122697833 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000031426 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031426]
AlphaFold O35594
Predicted Effect probably null
Transcript: ENSMUST00000031426
SMART Domains Protein: ENSMUSP00000031426
Gene: ENSMUSG00000029469

DomainStartEndE-ValueType
PDB:4LVP|A 5 128 2e-23 PDB
coiled coil region 167 258 N/A INTRINSIC
coiled coil region 308 383 N/A INTRINSIC
coiled coil region 503 591 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 99% (73/74)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene, together with IFT74, forms a tubulin-binding module of intraflagellar transport complex B. This module is involved in transport of tubulin within the cilium, and the encoded protein is required for ciliogenesis. Mutations in this gene are a cause of short-rib polydactyly syndromes. [provided by RefSeq, Dec 2016]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik T G 6: 83,133,556 (GRCm39) M1R probably null Het
Acap2 T C 16: 30,946,238 (GRCm39) D235G probably damaging Het
Adgrv1 C A 13: 81,647,241 (GRCm39) V3100F probably damaging Het
Aff4 A G 11: 53,288,686 (GRCm39) T401A probably damaging Het
Apcs T C 1: 172,722,391 (GRCm39) T22A probably benign Het
Atf7ip2 T C 16: 10,059,738 (GRCm39) V426A possibly damaging Het
Bach2 A G 4: 32,562,175 (GRCm39) D214G possibly damaging Het
Baz2a C T 10: 127,960,925 (GRCm39) A1578V possibly damaging Het
Camk1d T C 2: 5,449,954 (GRCm39) I76V probably benign Het
Ccdc182 A T 11: 88,185,324 (GRCm39) M135L probably benign Het
Cd47 C T 16: 49,716,731 (GRCm39) T201I Het
Chodl T C 16: 78,746,030 (GRCm39) S290P possibly damaging Het
Chst15 A G 7: 131,868,520 (GRCm39) L300P possibly damaging Het
Ciita T C 16: 10,324,571 (GRCm39) S168P probably damaging Het
Cntn2 C T 1: 132,456,678 (GRCm39) V123I probably benign Het
Cyld T A 8: 89,457,348 (GRCm39) L527Q probably benign Het
Dbn1 T A 13: 55,631,241 (GRCm39) Y34F probably damaging Het
Enc1 C A 13: 97,383,018 (GRCm39) Y509* probably null Het
Ermard A T 17: 15,273,643 (GRCm39) E409D probably benign Het
Extl3 T C 14: 65,314,765 (GRCm39) E139G possibly damaging Het
Fa2h A T 8: 112,082,115 (GRCm39) V177E possibly damaging Het
Flot2 T C 11: 77,949,772 (GRCm39) I367T probably damaging Het
Fras1 T C 5: 96,884,813 (GRCm39) Y2564H probably damaging Het
Fxyd3 A G 7: 30,773,018 (GRCm39) V10A probably benign Het
Gfra3 A G 18: 34,837,560 (GRCm39) L146P probably damaging Het
Gm49359 T C 13: 62,602,448 (GRCm39) N251D probably benign Het
Hps6 A G 19: 45,992,542 (GRCm39) S160G probably benign Het
Hsd17b7 C A 1: 169,794,875 (GRCm39) A55S probably damaging Het
Hspa12a T C 19: 58,789,298 (GRCm39) D446G probably benign Het
Htt G A 5: 34,989,957 (GRCm39) R1163Q possibly damaging Het
Ighv5-15 T G 12: 113,790,395 (GRCm39) Y75S probably benign Het
Kcnd2 T A 6: 21,725,981 (GRCm39) H491Q probably damaging Het
Lamb3 C A 1: 193,014,665 (GRCm39) T608K probably benign Het
Lrtm2 T A 6: 119,297,412 (GRCm39) K210* probably null Het
Med13 G T 11: 86,189,283 (GRCm39) P1209T probably benign Het
Mtus1 G A 8: 41,537,239 (GRCm39) T159I probably damaging Het
Myt1l A G 12: 29,901,659 (GRCm39) M805V unknown Het
Neb G T 2: 52,160,231 (GRCm39) L2261I probably benign Het
Nlrp4c G A 7: 6,068,498 (GRCm39) R133H probably benign Het
Nol11 A T 11: 107,071,765 (GRCm39) L276Q probably damaging Het
Nrap A G 19: 56,350,277 (GRCm39) Y614H probably damaging Het
Or13c9 G A 4: 52,936,211 (GRCm39) T24M probably damaging Het
Or52p1 A G 7: 104,267,705 (GRCm39) H273R probably damaging Het
Pou2f3 A G 9: 43,040,224 (GRCm39) S355P probably damaging Het
Ppm1l C A 3: 69,460,453 (GRCm39) N343K probably damaging Het
Prh1 A T 6: 132,548,573 (GRCm39) I27F unknown Het
Prkrip1 A T 5: 136,223,203 (GRCm39) L85Q probably damaging Het
Pycr3 C T 15: 75,790,563 (GRCm39) V99I probably benign Het
R3hdm4 T A 10: 79,749,393 (GRCm39) N72I probably damaging Het
Rab11fip3 G T 17: 26,231,032 (GRCm39) H738N probably benign Het
Rtl1 G A 12: 109,556,673 (GRCm39) A1722V possibly damaging Het
Sell A G 1: 163,893,122 (GRCm39) N113D probably damaging Het
Smarcal1 T C 1: 72,665,697 (GRCm39) S732P probably damaging Het
Smurf2 A T 11: 106,743,424 (GRCm39) D207E probably benign Het
Spata31h1 G A 10: 82,121,439 (GRCm39) S3857L probably benign Het
Tat C T 8: 110,723,510 (GRCm39) R333C probably benign Het
Tmem121b A T 6: 120,469,234 (GRCm39) F494L probably damaging Het
Tmem198 C A 1: 75,456,522 (GRCm39) P89Q probably damaging Het
Tnks2 T G 19: 36,835,284 (GRCm39) C2G probably damaging Het
Trappc9 T C 15: 72,673,202 (GRCm39) E869G unknown Het
Trim42 T A 9: 97,251,584 (GRCm39) K105M probably benign Het
Ttll3 T C 6: 113,369,635 (GRCm39) S60P probably benign Het
Ttll4 T A 1: 74,725,121 (GRCm39) I625N possibly damaging Het
Tubgcp5 T A 7: 55,479,181 (GRCm39) probably null Het
Txlnb A T 10: 17,682,594 (GRCm39) Y172F probably damaging Het
Ube2e3 A T 2: 78,744,035 (GRCm39) D88V possibly damaging Het
Vmn1r189 T A 13: 22,286,430 (GRCm39) I136L probably benign Het
Vmn2r71 A G 7: 85,267,950 (GRCm39) I135V probably benign Het
Vmn2r73 T A 7: 85,519,073 (GRCm39) R516S probably benign Het
Wrn C T 8: 33,731,006 (GRCm39) E1352K probably benign Het
Zfp318 T C 17: 46,722,139 (GRCm39) S1381P probably damaging Het
Zfp747 A T 7: 126,973,655 (GRCm39) Y172N probably damaging Het
Other mutations in Ift81
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01321:Ift81 APN 5 122,749,031 (GRCm39) missense probably damaging 1.00
IGL01867:Ift81 APN 5 122,740,739 (GRCm39) splice site probably benign
IGL01927:Ift81 APN 5 122,731,192 (GRCm39) missense probably benign 0.25
IGL02954:Ift81 APN 5 122,748,248 (GRCm39) splice site probably benign
IGL03003:Ift81 APN 5 122,732,725 (GRCm39) missense probably benign 0.01
R1179:Ift81 UTSW 5 122,740,773 (GRCm39) missense probably benign 0.22
R1394:Ift81 UTSW 5 122,706,986 (GRCm39) missense probably benign 0.00
R1395:Ift81 UTSW 5 122,706,986 (GRCm39) missense probably benign 0.00
R1962:Ift81 UTSW 5 122,698,772 (GRCm39) missense probably benign 0.01
R2084:Ift81 UTSW 5 122,705,410 (GRCm39) missense probably benign 0.00
R4019:Ift81 UTSW 5 122,731,192 (GRCm39) missense probably benign 0.25
R4769:Ift81 UTSW 5 122,732,656 (GRCm39) missense probably benign 0.16
R4849:Ift81 UTSW 5 122,729,282 (GRCm39) missense probably damaging 1.00
R4905:Ift81 UTSW 5 122,729,142 (GRCm39) critical splice donor site probably null
R4924:Ift81 UTSW 5 122,732,679 (GRCm39) missense possibly damaging 0.86
R5110:Ift81 UTSW 5 122,689,121 (GRCm39) missense probably benign 0.02
R5299:Ift81 UTSW 5 122,745,119 (GRCm39) missense probably damaging 0.99
R5387:Ift81 UTSW 5 122,693,598 (GRCm39) missense probably damaging 1.00
R6190:Ift81 UTSW 5 122,689,163 (GRCm39) missense probably benign 0.00
R6241:Ift81 UTSW 5 122,740,414 (GRCm39) missense probably benign 0.38
R6404:Ift81 UTSW 5 122,749,069 (GRCm39) missense probably damaging 1.00
R6647:Ift81 UTSW 5 122,748,229 (GRCm39) nonsense probably null
R7155:Ift81 UTSW 5 122,707,062 (GRCm39) missense probably damaging 0.99
R7170:Ift81 UTSW 5 122,693,596 (GRCm39) nonsense probably null
R7699:Ift81 UTSW 5 122,732,623 (GRCm39) missense possibly damaging 0.85
R7700:Ift81 UTSW 5 122,732,623 (GRCm39) missense possibly damaging 0.85
R7709:Ift81 UTSW 5 122,747,394 (GRCm39) missense probably damaging 1.00
R7756:Ift81 UTSW 5 122,689,088 (GRCm39) missense probably damaging 1.00
R7758:Ift81 UTSW 5 122,689,088 (GRCm39) missense probably damaging 1.00
R9154:Ift81 UTSW 5 122,689,122 (GRCm39) missense probably benign 0.04
R9761:Ift81 UTSW 5 122,729,146 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- GTTAATACTTAGAGGGAGGTCTCAG -3'
(R):5'- CTGCTGAGGTTAGAACGCAC -3'

Sequencing Primer
(F):5'- AGCCTGGTCTATGTAGCAAGC -3'
(R):5'- TTAGAACGCACTAGGACGAGTCTC -3'
Posted On 2022-04-18