Incidental Mutation 'R4847:Ift70a2'
ID 373285
Institutional Source Beutler Lab
Gene Symbol Ift70a2
Ensembl Gene ENSMUSG00000075272
Gene Name intraflagellar transport 70A2
Synonyms Ttc30a2, OTTMUSG00000015167
MMRRC Submission 042460-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4847 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 75806516-75808523 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 75808058 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 151 (N151K)
Ref Sequence ENSEMBL: ENSMUSP00000097575 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099994] [ENSMUST00000099995]
AlphaFold A2AKQ8
Predicted Effect probably benign
Transcript: ENSMUST00000099994
SMART Domains Protein: ENSMUSP00000097574
Gene: ENSMUSG00000075271

DomainStartEndE-ValueType
TPR 45 78 1.1e-1 SMART
TPR 153 186 2.19e1 SMART
TPR 187 220 6.24e1 SMART
coiled coil region 380 411 N/A INTRINSIC
TPR 423 456 2.24e1 SMART
Blast:TPR 457 491 1e-10 BLAST
low complexity region 514 528 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000099995
AA Change: N151K

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000097575
Gene: ENSMUSG00000075272
AA Change: N151K

DomainStartEndE-ValueType
TPR 45 78 1.1e-1 SMART
TPR 153 186 2.77e1 SMART
Blast:TPR 187 224 1e-13 BLAST
coiled coil region 380 405 N/A INTRINSIC
TPR 423 456 2.24e1 SMART
Blast:TPR 457 491 1e-10 BLAST
low complexity region 514 528 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730455P16Rik C T 11: 80,264,940 (GRCm39) V171M probably damaging Het
Abhd3 A G 18: 10,647,786 (GRCm39) S328P possibly damaging Het
Acot11 C T 4: 106,617,327 (GRCm39) G240R probably damaging Het
Aldh1b1 G T 4: 45,802,625 (GRCm39) K54N possibly damaging Het
Amacr C T 15: 10,994,958 (GRCm39) Q257* probably null Het
Ankrd12 A T 17: 66,331,087 (GRCm39) D309E probably benign Het
Anks6 T C 4: 47,033,266 (GRCm39) T600A probably benign Het
Ap3b1 A G 13: 94,608,287 (GRCm39) E586G probably benign Het
Atad2b A G 12: 4,994,901 (GRCm39) probably null Het
Cant1 G A 11: 118,300,936 (GRCm39) Q240* probably null Het
Cep152 T C 2: 125,460,394 (GRCm39) Y186C possibly damaging Het
Cep76 C A 18: 67,752,639 (GRCm39) R603I probably benign Het
Chad T C 11: 94,459,153 (GRCm39) S352P probably benign Het
Ckap2 T C 8: 22,665,084 (GRCm39) E460G probably damaging Het
Col22a1 T C 15: 71,671,348 (GRCm39) Y1004C unknown Het
Col9a3 G A 2: 180,257,318 (GRCm39) G480S probably damaging Het
Cpsf2 A G 12: 101,963,561 (GRCm39) D430G probably benign Het
Cramp1 T C 17: 25,204,063 (GRCm39) D305G probably damaging Het
Ctnnd1 C A 2: 84,452,396 (GRCm39) E76* probably null Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Cyp2c39 A T 19: 39,549,340 (GRCm39) N286I probably damaging Het
Ddx11 A G 17: 66,437,796 (GRCm39) E174G probably damaging Het
Ddx19a T C 8: 111,703,677 (GRCm39) E369G probably damaging Het
Dnai7 T A 6: 145,120,911 (GRCm39) H636L probably damaging Het
Epha1 T A 6: 42,338,848 (GRCm39) D687V possibly damaging Het
Fgr T C 4: 132,721,959 (GRCm39) W132R probably damaging Het
Fras1 A T 5: 96,692,851 (GRCm39) D170V possibly damaging Het
Gas2l1 A G 11: 5,014,173 (GRCm39) S96P probably damaging Het
Gfy G A 7: 44,827,020 (GRCm39) P359S probably damaging Het
Hexim2 A G 11: 103,029,767 (GRCm39) N273S probably benign Het
Hr A T 14: 70,793,916 (GRCm39) T59S probably benign Het
Impdh2 A G 9: 108,441,870 (GRCm39) Y166C probably damaging Het
Impdh2 T A 9: 108,442,714 (GRCm39) F514Y probably benign Het
Iqgap2 A G 13: 95,810,251 (GRCm39) F731S probably benign Het
Klhl17 A T 4: 156,316,054 (GRCm39) H433Q probably damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Kntc1 A C 5: 123,940,337 (GRCm39) N1645T probably benign Het
Mcm8 A G 2: 132,661,923 (GRCm39) I114V probably benign Het
Mink1 T A 11: 70,492,854 (GRCm39) L160Q probably damaging Het
Mipol1 A T 12: 57,350,282 (GRCm39) S27C probably damaging Het
Mthfr T C 4: 148,132,596 (GRCm39) V217A probably damaging Het
Or5b105 A G 19: 13,079,898 (GRCm39) Y257H probably damaging Het
Or5p53 T A 7: 107,533,034 (GRCm39) C102* probably null Het
Pde1c T C 6: 56,100,019 (GRCm39) K614E possibly damaging Het
Pds5b A T 5: 150,671,577 (GRCm39) E407V probably damaging Het
Pdzph1 A G 17: 59,280,525 (GRCm39) S586P possibly damaging Het
Prkcb C T 7: 122,167,372 (GRCm39) R361W probably benign Het
Psen2 T A 1: 180,073,197 (GRCm39) probably null Het
Ptk2 T A 15: 73,103,805 (GRCm39) M82L probably benign Het
Ptk2b T C 14: 66,411,331 (GRCm39) D400G probably damaging Het
Samd8 G A 14: 21,842,503 (GRCm39) R275Q possibly damaging Het
Senp2 A G 16: 21,857,386 (GRCm39) T403A possibly damaging Het
Serpinb13 C T 1: 106,910,574 (GRCm39) S66L probably damaging Het
Skap2 T A 6: 51,980,649 (GRCm39) I52L probably benign Het
Slc5a7 T C 17: 54,584,168 (GRCm39) D374G possibly damaging Het
Slmap A T 14: 26,147,763 (GRCm39) L699M possibly damaging Het
Sntg1 A C 1: 8,665,706 (GRCm39) C203G possibly damaging Het
Stard9 T C 2: 120,533,594 (GRCm39) S3284P probably benign Het
Tbx21 T C 11: 97,005,857 (GRCm39) Y36C probably damaging Het
Tecpr2 A G 12: 110,906,311 (GRCm39) Y971C probably damaging Het
Trpm5 T A 7: 142,641,500 (GRCm39) I137F possibly damaging Het
Unk A G 11: 115,945,232 (GRCm39) K426E probably damaging Het
Zc3hc1 T C 6: 30,375,981 (GRCm39) D193G probably benign Het
Other mutations in Ift70a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02724:Ift70a2 APN 2 75,806,682 (GRCm39) missense probably benign 0.16
IGL03269:Ift70a2 APN 2 75,808,479 (GRCm39) missense possibly damaging 0.50
R0011:Ift70a2 UTSW 2 75,806,561 (GRCm39) missense probably damaging 1.00
R0751:Ift70a2 UTSW 2 75,808,375 (GRCm39) missense probably damaging 0.99
R0766:Ift70a2 UTSW 2 75,806,676 (GRCm39) missense probably benign 0.00
R0835:Ift70a2 UTSW 2 75,808,494 (GRCm39) missense probably benign
R1133:Ift70a2 UTSW 2 75,807,727 (GRCm39) nonsense probably null
R1212:Ift70a2 UTSW 2 75,806,823 (GRCm39) missense probably damaging 1.00
R1312:Ift70a2 UTSW 2 75,806,676 (GRCm39) missense probably benign 0.00
R4780:Ift70a2 UTSW 2 75,807,920 (GRCm39) missense probably benign 0.19
R4799:Ift70a2 UTSW 2 75,807,729 (GRCm39) missense probably benign 0.01
R5176:Ift70a2 UTSW 2 75,807,421 (GRCm39) missense probably benign
R5390:Ift70a2 UTSW 2 75,807,630 (GRCm39) missense probably damaging 1.00
R5724:Ift70a2 UTSW 2 75,808,074 (GRCm39) missense probably benign
R6975:Ift70a2 UTSW 2 75,808,004 (GRCm39) nonsense probably null
R6975:Ift70a2 UTSW 2 75,806,752 (GRCm39) missense probably damaging 1.00
R7028:Ift70a2 UTSW 2 75,806,613 (GRCm39) nonsense probably null
R7234:Ift70a2 UTSW 2 75,806,540 (GRCm39) nonsense probably null
R7246:Ift70a2 UTSW 2 75,808,023 (GRCm39) missense probably damaging 1.00
R7792:Ift70a2 UTSW 2 75,807,273 (GRCm39) missense probably benign 0.04
R8073:Ift70a2 UTSW 2 75,806,997 (GRCm39) missense probably damaging 1.00
R9038:Ift70a2 UTSW 2 75,808,215 (GRCm39) missense probably benign 0.09
R9278:Ift70a2 UTSW 2 75,807,375 (GRCm39) missense probably damaging 1.00
R9454:Ift70a2 UTSW 2 75,806,812 (GRCm39) missense probably benign 0.05
R9694:Ift70a2 UTSW 2 75,807,691 (GRCm39) missense probably benign 0.41
Predicted Primers PCR Primer
(F):5'- CAATATGCTTCAGTGCTGGGG -3'
(R):5'- TCGCTGCAGAGTGCTATGAG -3'

Sequencing Primer
(F):5'- GCATAGTGCCTGTTGCTGTAAC -3'
(R):5'- CTATGAGCAGCTGAGCCAG -3'
Posted On 2016-03-01