Incidental Mutation 'R6404:Ift81'
ID 518889
Institutional Source Beutler Lab
Gene Symbol Ift81
Ensembl Gene ENSMUSG00000029469
Gene Name intraflagellar transport 81
Synonyms Cdv1, CDV-1R
MMRRC Submission 044549-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6404 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 122688267-122752581 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 122749069 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 27 (D27E)
Ref Sequence ENSEMBL: ENSMUSP00000116467 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031426] [ENSMUST00000127220] [ENSMUST00000136024] [ENSMUST00000196452]
AlphaFold O35594
Predicted Effect probably damaging
Transcript: ENSMUST00000031426
AA Change: D27E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031426
Gene: ENSMUSG00000029469
AA Change: D27E

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
Predicted Effect probably damaging
Transcript: ENSMUST00000127220
AA Change: D27E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116467
Gene: ENSMUSG00000029469
AA Change: D27E

DomainStartEndE-ValueType
PDB:4LVR|A 1 122 1e-25 PDB
coiled coil region 167 208 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000136024
AA Change: D27E

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000118614
Gene: ENSMUSG00000029469
AA Change: D27E

DomainStartEndE-ValueType
PDB:4LVP|A 5 50 4e-7 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144065
Predicted Effect probably damaging
Transcript: ENSMUST00000196452
AA Change: D27E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143512
Gene: ENSMUSG00000029469
AA Change: D27E

DomainStartEndE-ValueType
PDB:4LVP|A 1 48 4e-7 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196544
Meta Mutation Damage Score 0.4385 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.4%
Validation Efficiency 98% (40/41)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T C 17: 24,484,892 (GRCm39) D1540G probably benign Het
Adamts7 A T 9: 90,062,509 (GRCm39) probably null Het
Apol10a C A 15: 77,373,241 (GRCm39) F292L probably benign Het
Atp13a4 A T 16: 29,290,719 (GRCm39) Y243* probably null Het
Cc2d2a A G 5: 43,861,416 (GRCm39) N660D possibly damaging Het
Ccdc57 T C 11: 120,785,538 (GRCm39) T466A probably benign Het
Ccdc74a A T 16: 17,467,889 (GRCm39) N249Y possibly damaging Het
Cd3e T A 9: 44,912,426 (GRCm39) E106V probably damaging Het
Col4a1 G T 8: 11,257,409 (GRCm39) probably null Het
Csmd2 T C 4: 128,415,743 (GRCm39) Y2691H possibly damaging Het
Dmxl2 T C 9: 54,282,820 (GRCm39) R2786G probably damaging Het
Dpyd A G 3: 119,059,606 (GRCm39) T768A probably benign Het
Endou T A 15: 97,610,012 (GRCm39) Q428L probably damaging Het
Fam13c T C 10: 70,284,646 (GRCm39) probably null Het
Fhip1b G A 7: 105,034,198 (GRCm39) R478* probably null Het
Frmd5 G A 2: 121,379,699 (GRCm39) R70* probably null Het
Fsip2 A G 2: 82,820,430 (GRCm39) T5388A possibly damaging Het
Gm4131 T A 14: 62,718,598 (GRCm39) R3* probably null Het
Habp4 A G 13: 64,330,000 (GRCm39) T302A possibly damaging Het
Iqcf3 T C 9: 106,430,083 (GRCm39) I107V probably benign Het
Iqgap2 A G 13: 95,865,985 (GRCm39) I298T probably benign Het
Lilrb4b A G 10: 51,361,825 (GRCm39) D199G probably damaging Het
Lsm8 C T 6: 18,848,739 (GRCm39) S3F possibly damaging Het
Meox1 T C 11: 101,769,482 (GRCm39) E238G probably benign Het
Naip1 A T 13: 100,559,727 (GRCm39) D1092E probably benign Het
Neb T C 2: 52,097,737 (GRCm39) Y901C probably damaging Het
Nfat5 A G 8: 108,097,220 (GRCm39) M121V probably benign Het
Notch2 G A 3: 97,989,314 (GRCm39) G278D probably damaging Het
Or4c121 T C 2: 89,023,906 (GRCm39) I157M probably damaging Het
Pbld2 T A 10: 62,890,107 (GRCm39) S172T probably damaging Het
Pla2g7 T A 17: 43,905,688 (GRCm39) Y83N probably damaging Het
Plxnb1 A T 9: 108,945,705 (GRCm39) I2079F probably damaging Het
Rara T C 11: 98,851,839 (GRCm39) F17L probably benign Het
Skint5 G A 4: 113,799,806 (GRCm39) T121I probably damaging Het
Slco6c1 T C 1: 97,046,330 (GRCm39) Y251C probably damaging Het
Slmap T A 14: 26,143,566 (GRCm39) probably null Het
Uba2 A T 7: 33,853,985 (GRCm39) L319Q probably damaging Het
Vmn2r96 A T 17: 18,817,793 (GRCm39) I457F probably damaging Het
Zfp57 A T 17: 37,320,716 (GRCm39) H190L probably damaging Het
Zfp738 A G 13: 67,819,179 (GRCm39) S271P possibly damaging Het
Zp2 A T 7: 119,734,765 (GRCm39) H474Q possibly 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
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
R9329:Ift81 UTSW 5 122,697,833 (GRCm39) critical splice acceptor site probably null
R9761:Ift81 UTSW 5 122,729,146 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- TACGAGCAGGTAAATGAGACCC -3'
(R):5'- TGCAGAAGTATCCCTCTCTATCTAC -3'

Sequencing Primer
(F):5'- TGAGACCCAGGAATGGACTTTTCC -3'
(R):5'- GCTACCAAGACTGAGGATTC -3'
Posted On 2018-05-24