Incidental Mutation 'IGL01867:Ift81'
ID178582
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ift81
Ensembl Gene ENSMUSG00000029469
Gene Nameintraflagellar transport 81
SynonymsCDV-1R, Cdv1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01867
Quality Score
Status
Chromosome5
Chromosomal Location122550204-122614518 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 122602676 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143512 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031426] [ENSMUST00000127220] [ENSMUST00000136024] [ENSMUST00000196452]
Predicted Effect probably benign
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
Predicted Effect probably benign
Transcript: ENSMUST00000127220
SMART Domains Protein: ENSMUSP00000116467
Gene: ENSMUSG00000029469

DomainStartEndE-ValueType
PDB:4LVR|A 1 122 1e-25 PDB
coiled coil region 167 208 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000136024
SMART Domains Protein: ENSMUSP00000118614
Gene: ENSMUSG00000029469

DomainStartEndE-ValueType
PDB:4LVP|A 5 50 4e-7 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000139590
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144065
Predicted Effect probably benign
Transcript: ENSMUST00000196452
SMART Domains Protein: ENSMUSP00000143512
Gene: ENSMUSG00000029469

DomainStartEndE-ValueType
PDB:4LVP|A 1 48 4e-7 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196544
Coding Region Coverage
Validation Efficiency
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
Abcc10 T C 17: 46,324,438 E213G probably benign Het
Akap6 T C 12: 52,888,008 L761P probably damaging Het
Bbs7 A C 3: 36,573,547 L697R probably benign Het
Cd74 G A 18: 60,808,280 R99H probably benign Het
Cpne6 A G 14: 55,513,680 N182S probably benign Het
Cyp4f17 A G 17: 32,528,083 H429R probably benign Het
Dact2 A T 17: 14,195,670 M756K probably damaging Het
Ets1 A G 9: 32,734,159 D234G probably damaging Het
Fam196b A G 11: 34,403,065 E369G probably benign Het
Fat3 A C 9: 16,377,901 S109A probably benign Het
Fras1 G T 5: 96,588,131 M528I probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gtf3c1 A G 7: 125,662,376 F1189L probably benign Het
Lag3 A G 6: 124,910,906 S22P probably benign Het
Mos G T 4: 3,870,845 Q324K probably benign Het
Mtx2 T A 2: 74,876,389 V236E probably damaging Het
Naip6 T C 13: 100,300,312 T568A probably benign Het
Olfr175-ps1 A G 16: 58,823,974 F245S probably damaging Het
Olfr780 T C 10: 129,321,716 I31T probably benign Het
Olfr781 T A 10: 129,333,363 L161M probably damaging Het
Olfr794 G A 10: 129,570,827 M57I possibly damaging Het
Olfr920 A C 9: 38,755,898 D70A probably damaging Het
Pcid2 A G 8: 13,078,243 V386A probably benign Het
Pde8b T C 13: 95,100,938 D116G probably damaging Het
Plxnc1 A G 10: 94,798,146 V1365A possibly damaging Het
Prex2 G T 1: 11,098,503 C241F probably benign Het
Prr23a2 A G 9: 98,857,060 E157G probably benign Het
Ptpn4 A T 1: 119,675,599 H836Q probably benign Het
Ptprd C T 4: 76,243,647 R117H probably damaging Het
Rab11fip4 T C 11: 79,683,390 S102P probably benign Het
Slc44a1 G T 4: 53,536,405 V194F probably damaging Het
Synm T A 7: 67,733,474 H1480L probably benign Het
Tmem63a A G 1: 180,956,005 Y175C possibly damaging Het
Trmt61a C T 12: 111,678,716 R29C probably benign Het
Ubap1 C T 4: 41,379,236 T150I probably benign Het
Uimc1 T C 13: 55,075,401 M353V probably benign Het
Usp34 T C 11: 23,384,411 M1135T possibly damaging Het
Vmn1r25 A C 6: 57,979,211 L31R probably damaging Het
Wtap T C 17: 12,969,455 E186G probably benign Het
Wwc2 T G 8: 47,883,580 N216H probably benign Het
Zhx1 A T 15: 58,054,445 M135K probably damaging Het
Other mutations in Ift81
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01321:Ift81 APN 5 122610968 missense probably damaging 1.00
IGL01927:Ift81 APN 5 122593129 missense probably benign 0.25
IGL02954:Ift81 APN 5 122610185 splice site probably benign
IGL03003:Ift81 APN 5 122594662 missense probably benign 0.01
R1179:Ift81 UTSW 5 122602710 missense probably benign 0.22
R1394:Ift81 UTSW 5 122568923 missense probably benign 0.00
R1395:Ift81 UTSW 5 122568923 missense probably benign 0.00
R1962:Ift81 UTSW 5 122560709 missense probably benign 0.01
R2084:Ift81 UTSW 5 122567347 missense probably benign 0.00
R4019:Ift81 UTSW 5 122593129 missense probably benign 0.25
R4769:Ift81 UTSW 5 122594593 missense probably benign 0.16
R4849:Ift81 UTSW 5 122591219 missense probably damaging 1.00
R4905:Ift81 UTSW 5 122591079 critical splice donor site probably null
R4924:Ift81 UTSW 5 122594616 missense possibly damaging 0.86
R5110:Ift81 UTSW 5 122551058 missense probably benign 0.02
R5299:Ift81 UTSW 5 122607056 missense probably damaging 0.99
R5387:Ift81 UTSW 5 122555535 missense probably damaging 1.00
R6190:Ift81 UTSW 5 122551100 missense probably benign 0.00
R6241:Ift81 UTSW 5 122602351 missense probably benign 0.38
R6404:Ift81 UTSW 5 122611006 missense probably damaging 1.00
R6647:Ift81 UTSW 5 122610166 nonsense probably null
R7155:Ift81 UTSW 5 122568999 missense probably damaging 0.99
R7170:Ift81 UTSW 5 122555533 nonsense probably null
R7699:Ift81 UTSW 5 122594560 missense possibly damaging 0.85
R7700:Ift81 UTSW 5 122594560 missense possibly damaging 0.85
R7709:Ift81 UTSW 5 122609331 missense probably damaging 1.00
R7756:Ift81 UTSW 5 122551025 missense probably damaging 1.00
R7758:Ift81 UTSW 5 122551025 missense probably damaging 1.00
Posted On2014-05-07