Incidental Mutation 'R4799:Ift70a2'
ID 369293
Institutional Source Beutler Lab
Gene Symbol Ift70a2
Ensembl Gene ENSMUSG00000075272
Gene Name intraflagellar transport 70A2
Synonyms Ttc30a2, OTTMUSG00000015167
MMRRC Submission 041997-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4799 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 75806516-75808523 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 75807729 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 261 (Y261F)
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: Y261F

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000097575
Gene: ENSMUSG00000075272
AA Change: Y261F

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: 98.3%
  • 10x: 96.4%
  • 20x: 92.6%
Validation Efficiency 97% (122/126)
Allele List at MGI
Other mutations in this stock
Total: 119 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12b C G 12: 70,215,838 (GRCm39) S170C probably damaging Het
Acads T A 5: 115,251,149 (GRCm39) T112S probably benign Het
Adgrl1 A G 8: 84,662,202 (GRCm39) H1021R probably benign Het
Ago3 A T 4: 126,241,665 (GRCm39) probably null Het
Ap5m1 A G 14: 49,318,527 (GRCm39) K412E probably benign Het
Arid1b C T 17: 5,389,496 (GRCm39) P1681S probably damaging Het
Atxn10 T C 15: 85,260,909 (GRCm39) probably null Het
AU040320 A G 4: 126,733,462 (GRCm39) T661A probably benign Het
Bhmt1b C A 18: 87,774,573 (GRCm39) A32E probably damaging Het
Capn7 T C 14: 31,082,514 (GRCm39) I455M probably benign Het
Capzb A G 4: 138,920,310 (GRCm39) probably benign Het
Car10 G A 11: 93,469,492 (GRCm39) V156I possibly damaging Het
Cbs T A 17: 31,851,826 (GRCm39) D59V probably damaging Het
Ccar2 T C 14: 70,377,003 (GRCm39) E819G probably damaging Het
Cdc73 T A 1: 143,503,613 (GRCm39) Q346L probably benign Het
Cdhr4 T C 9: 107,875,898 (GRCm39) probably benign Het
Cfap251 C T 5: 123,440,835 (GRCm39) H1131Y probably benign Het
Chd2 A T 7: 73,134,184 (GRCm39) M721K possibly damaging Het
Cntnap5b G A 1: 100,286,450 (GRCm39) G402R probably benign Het
Cps1 T C 1: 67,182,145 (GRCm39) Y120H probably damaging Het
Csf2 T C 11: 54,140,306 (GRCm39) D44G probably benign Het
Cubn T A 2: 13,291,835 (GRCm39) Q3330L possibly damaging Het
Cubn A G 2: 13,355,869 (GRCm39) S1788P probably damaging Het
Cul9 T C 17: 46,811,770 (GRCm39) D2486G possibly damaging Het
Cyp2c40 A T 19: 39,762,293 (GRCm39) S451R probably damaging Het
Cyp51 T A 5: 4,133,256 (GRCm39) T461S probably damaging Het
Cyth1 T C 11: 118,074,768 (GRCm39) M164V probably damaging Het
D130043K22Rik T C 13: 25,062,023 (GRCm39) I664T probably damaging Het
Ddc T C 11: 11,796,632 (GRCm39) probably null Het
Ddx21 A T 10: 62,423,900 (GRCm39) D589E probably damaging Het
Dgkb C T 12: 38,164,567 (GRCm39) R113C possibly damaging Het
Dglucy A T 12: 100,816,602 (GRCm39) M415L probably benign Het
Efnb2 A T 8: 8,673,104 (GRCm39) probably null Het
Elp4 T A 2: 105,639,612 (GRCm39) Q189L probably damaging Het
Enpp2 T C 15: 54,773,490 (GRCm39) N77S probably damaging Het
Eps15 G A 4: 109,223,727 (GRCm39) probably benign Het
F2rl1 G A 13: 95,650,477 (GRCm39) S135F possibly damaging Het
Fam133b T C 5: 3,607,815 (GRCm39) M65T probably damaging Het
Fanca A G 8: 124,014,941 (GRCm39) V689A probably damaging Het
Fbh1 C T 2: 11,760,558 (GRCm39) C79Y probably damaging Het
Fbxw7 C T 3: 84,811,168 (GRCm39) Q98* probably null Het
Flrt3 T C 2: 140,502,086 (GRCm39) N514S probably damaging Het
Foxj3 A T 4: 119,478,857 (GRCm39) S438C unknown Het
Gcm2 T C 13: 41,256,970 (GRCm39) K260E possibly damaging Het
Gm12863 C T 4: 118,811,685 (GRCm39) noncoding transcript Het
Gpnmb G T 6: 49,022,417 (GRCm39) probably null Het
Gsap C A 5: 21,455,941 (GRCm39) N379K probably benign Het
Hsd3b1 T A 3: 98,760,181 (GRCm39) Y270F probably benign Het
Il22 C A 10: 118,041,058 (GRCm39) R55S probably damaging Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Klhdc3 T C 17: 46,988,226 (GRCm39) R180G possibly damaging Het
Lmbrd1 G A 1: 24,784,056 (GRCm39) probably null Het
Lrrcc1 C T 3: 14,601,156 (GRCm39) R63* probably null Het
Lyar A G 5: 38,382,123 (GRCm39) D35G probably damaging Het
Mbd4 C T 6: 115,822,283 (GRCm39) R442Q probably benign Het
Mib2 G T 4: 155,744,229 (GRCm39) S144R probably benign Het
Mms22l A T 4: 24,580,052 (GRCm39) probably null Het
Mtmr3 G A 11: 4,437,764 (GRCm39) H897Y probably benign Het
Muc5b T A 7: 141,401,453 (GRCm39) C566* probably null Het
Nap1l4 A T 7: 143,088,200 (GRCm39) probably null Het
Ncor2 A T 5: 125,114,124 (GRCm39) probably null Het
Ndufa7 T C 17: 34,057,187 (GRCm39) probably benign Het
Ndufs1 C A 1: 63,200,108 (GRCm39) G268V probably damaging Het
Nfs1 A G 2: 155,976,369 (GRCm39) V175A possibly damaging Het
Obsl1 C A 1: 75,466,145 (GRCm39) A1528S possibly damaging Het
Or2z8 A G 8: 72,811,938 (GRCm39) N138S probably benign Het
Or4a79 C T 2: 89,551,706 (GRCm39) V250I probably benign Het
Or52z1 A T 7: 103,436,688 (GRCm39) F265L possibly damaging Het
Or7a42 T G 10: 78,791,931 (GRCm39) D297E probably null Het
Or8k39 C T 2: 86,563,018 (GRCm39) probably null Het
Pcdhb8 A G 18: 37,488,706 (GRCm39) D128G probably damaging Het
Pkp4 A T 2: 59,172,449 (GRCm39) I522F probably damaging Het
Plod3 G A 5: 137,019,654 (GRCm39) A398T probably benign Het
Pou4f3 A G 18: 42,529,052 (GRCm39) M332V possibly damaging Het
Prox1 A G 1: 189,885,669 (GRCm39) F593L probably damaging Het
Prrc2a G A 17: 35,369,018 (GRCm39) P2006L probably damaging Het
Prss50 A G 9: 110,692,864 (GRCm39) D328G probably damaging Het
Psmd6 C T 14: 14,120,126 (GRCm38) S71N probably benign Het
Ptprd A G 4: 76,009,769 (GRCm39) I764T probably benign Het
Ptprr C T 10: 115,884,123 (GRCm39) A60V probably benign Het
Raet1e T A 10: 22,057,199 (GRCm39) D174E probably damaging Het
Rbfox2 T C 15: 76,976,018 (GRCm39) I308M probably benign Het
Rnf20 G C 4: 49,649,962 (GRCm39) probably null Het
Rpap2 A T 5: 107,768,113 (GRCm39) H317L probably benign Het
Rsph6a T A 7: 18,799,783 (GRCm39) Y471* probably null Het
Sdhb A G 4: 140,704,777 (GRCm39) H246R possibly damaging Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Sin3b A C 8: 73,452,271 (GRCm39) I126L probably benign Het
Skint2 G A 4: 112,509,305 (GRCm39) A363T probably benign Het
Slc22a30 A G 19: 8,321,768 (GRCm39) I432T probably benign Het
Slc2a2 G A 3: 28,771,681 (GRCm39) probably null Het
Slco1a5 T C 6: 142,194,533 (GRCm39) Y370C possibly damaging Het
Sltm A G 9: 70,496,339 (GRCm39) H958R probably damaging Het
Smpdl3a C T 10: 57,684,111 (GRCm39) H290Y probably damaging Het
Snrnp40 A G 4: 130,256,549 (GRCm39) I91M probably damaging Het
Spag9 T A 11: 93,939,343 (GRCm39) F91I probably damaging Het
Spag9 A T 11: 93,939,342 (GRCm39) K90N possibly damaging Het
Stox1 A C 10: 62,501,516 (GRCm39) I348S probably damaging Het
Sult1e1 A G 5: 87,738,027 (GRCm39) V18A possibly damaging Het
Syne2 A G 12: 75,945,941 (GRCm39) M338V probably benign Het
Tbc1d23 T A 16: 57,012,991 (GRCm39) Q327L probably benign Het
Terf2 G T 8: 107,803,307 (GRCm39) H425Q probably benign Het
Timd2 A T 11: 46,568,094 (GRCm39) Y233* probably null Het
Tmem39a A G 16: 38,411,524 (GRCm39) probably benign Het
Trappc10 T C 10: 78,037,424 (GRCm39) D793G possibly damaging Het
Ugt1a10 TAAAAAAAAA TAAAAAAA 1: 88,143,650 (GRCm39) probably benign Het
Unc93a T C 17: 13,339,782 (GRCm39) probably null Het
Utrn T C 10: 12,625,813 (GRCm39) T123A probably damaging Het
Vmn1r171 T C 7: 23,332,369 (GRCm39) I198T probably benign Het
Vmn1r213 T A 13: 23,196,016 (GRCm39) S200T probably damaging Het
Vmn2r108 T A 17: 20,682,891 (GRCm39) D771V probably damaging Het
Wls C T 3: 159,603,082 (GRCm39) T165I probably benign Het
Zc3h13 G A 14: 75,576,863 (GRCm39) C1657Y probably damaging Het
Zdhhc5 T C 2: 84,523,775 (GRCm39) K224E probably damaging Het
Zfp54 T A 17: 21,654,402 (GRCm39) Y299N probably damaging Het
Zfp820 A T 17: 22,037,966 (GRCm39) L454Q probably benign Het
Zfp960 T A 17: 17,308,698 (GRCm39) F471I probably damaging Het
Zswim5 A G 4: 116,830,169 (GRCm39) I515V probably benign Het
Zzef1 G T 11: 72,750,449 (GRCm39) S919I 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
R4847:Ift70a2 UTSW 2 75,808,058 (GRCm39) missense probably benign 0.03
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'- TTACAGTAGAGCAGCAGCAG -3'
(R):5'- TTACAGCAACAGGCACTATGC -3'

Sequencing Primer
(F):5'- AGCAGGTTGCCAAAGGTCTC -3'
(R):5'- GCCCCAGCACTGAAGCATATTG -3'
Posted On 2016-02-04