Incidental Mutation 'R4905:Ift81'
ID 378095
Institutional Source Beutler Lab
Gene Symbol Ift81
Ensembl Gene ENSMUSG00000029469
Gene Name intraflagellar transport 81
Synonyms Cdv1, CDV-1R
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4905 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 122688267-122752581 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 122729142 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
Predicted Effect probably benign
Transcript: ENSMUST00000139590
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.0%
  • 20x: 87.5%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik A T 10: 100,448,680 (GRCm39) probably null 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
Abcc5 A G 16: 20,218,678 (GRCm39) S235P probably damaging Het
Abcc6 T C 7: 45,644,649 (GRCm39) N842S probably benign Het
Acbd6 G A 1: 155,500,669 (GRCm39) V210I probably benign Het
Ahctf1 A T 1: 179,576,192 (GRCm39) V2130D probably damaging Het
Akap5 A G 12: 76,375,207 (GRCm39) E213G probably damaging Het
Alyref T G 11: 120,486,879 (GRCm39) probably null Het
Anapc5 G T 5: 122,955,973 (GRCm39) N152K probably benign Het
Atp8b2 A T 3: 89,856,315 (GRCm39) D416E probably benign Het
AW551984 A T 9: 39,508,454 (GRCm39) V354E probably damaging Het
Bag6 A G 17: 35,364,162 (GRCm39) E844G probably damaging Het
Bmp1 C T 14: 70,728,802 (GRCm39) R590H probably benign Het
Ccnh T C 13: 85,354,254 (GRCm39) S233P possibly damaging Het
Cdca7 TGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA TGAAGAAGAAGAAGAAGAAGAAGAAGAAGA 2: 72,312,205 (GRCm39) probably benign Het
Col6a6 A G 9: 105,644,623 (GRCm39) S1222P probably damaging Het
Dhfr G A 13: 92,502,282 (GRCm39) G118S probably damaging Het
Dnah9 G A 11: 65,764,950 (GRCm39) R1414* probably null Het
Dnai1 A G 4: 41,614,269 (GRCm39) D315G probably benign Het
Eogt T C 6: 97,119,792 (GRCm39) R139G probably benign Het
Fcgbpl1 A T 7: 27,856,408 (GRCm39) K2065M possibly damaging Het
Fh1 C T 1: 175,446,639 (GRCm39) G79E probably damaging Het
Gabrg3 A G 7: 56,374,304 (GRCm39) Y421H probably damaging Het
Glipr1 C A 10: 111,821,545 (GRCm39) R219L probably damaging Het
Gm1123 T C 9: 98,891,369 (GRCm39) D360G probably benign Het
Itsn2 A G 12: 4,684,583 (GRCm39) probably benign Het
Kri1 A T 9: 21,198,998 (GRCm39) H55Q probably benign Het
Mcidas C A 13: 113,130,951 (GRCm39) A92E possibly damaging Het
Mcidas C T 13: 113,134,038 (GRCm39) T174M possibly damaging Het
Mmp25 C A 17: 23,863,022 (GRCm39) G130* probably null Het
Myh11 G A 16: 14,068,387 (GRCm39) T211M probably benign Het
Myo10 A G 15: 25,800,298 (GRCm39) D1458G probably damaging Het
Ncf4 A G 15: 78,139,104 (GRCm39) T154A probably damaging Het
Nfatc4 T C 14: 56,068,039 (GRCm39) I620T probably benign Het
Nos3 A T 5: 24,572,329 (GRCm39) Y134F probably benign Het
Nup50l T A 6: 96,142,911 (GRCm39) R44S possibly damaging Het
Or13c3 T C 4: 52,855,613 (GRCm39) N300S probably damaging Het
Or51a6 A T 7: 102,604,721 (GRCm39) I36N probably damaging Het
Or5b106 C A 19: 13,123,541 (GRCm39) A161S probably benign Het
Or6c209 T A 10: 129,483,792 (GRCm39) V265E possibly damaging Het
Pax9 G T 12: 56,743,411 (GRCm39) R19S probably damaging Het
Pcdha9 T C 18: 37,131,945 (GRCm39) I338T probably damaging Het
Plxnb2 G T 15: 89,041,614 (GRCm39) T1730K probably damaging Het
Rac1 A G 5: 143,502,907 (GRCm39) probably null Het
Samsn1 G T 16: 75,673,353 (GRCm39) F174L possibly damaging Het
Scaf1 G A 7: 44,662,129 (GRCm39) T86M probably damaging Het
Smc1b A G 15: 84,950,428 (GRCm39) Y1199H probably damaging Het
Svep1 A G 4: 58,069,308 (GRCm39) I2826T probably benign Het
Tex36 A G 7: 133,189,182 (GRCm39) V130A probably damaging Het
Tigd5 A G 15: 75,783,252 (GRCm39) H538R probably damaging Het
Tlr3 C A 8: 45,852,260 (GRCm39) probably null Het
Tubb2b A T 13: 34,312,187 (GRCm39) I202N probably damaging Het
Unc13c A G 9: 73,587,674 (GRCm39) V1453A probably benign Het
Unc5c A T 3: 141,507,071 (GRCm39) T608S probably benign Het
Vrk1 C A 12: 106,018,087 (GRCm39) H119N probably damaging Het
Wdr53 T A 16: 32,075,476 (GRCm39) M227K probably benign Het
Xpo4 T C 14: 57,875,746 (GRCm39) D129G possibly damaging Het
Zcchc4 T C 5: 52,953,992 (GRCm39) I224T probably damaging Het
Zdhhc1 T A 8: 106,210,326 (GRCm39) E30D probably damaging Het
Zscan29 C G 2: 120,991,864 (GRCm39) R540T 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
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
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'- AGTGAAACTCTGGAATACTGTTTCG -3'
(R):5'- GCTGACCCTGAACATTTATATTGGTG -3'

Sequencing Primer
(F):5'- ACTGTTTCGAAAAACTCCAGTC -3'
(R):5'- ATATTGGTGAAAATCCTCCCCC -3'
Posted On 2016-04-15