Incidental Mutation 'R0835:Ift70a2'
ID 77786
Institutional Source Beutler Lab
Gene Symbol Ift70a2
Ensembl Gene ENSMUSG00000075272
Gene Name intraflagellar transport 70A2
Synonyms Ttc30a2, OTTMUSG00000015167
MMRRC Submission 039014-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0835 (G1)
Quality Score 202
Status Not validated
Chromosome 2
Chromosomal Location 75806516-75808523 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75808494 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 6 (N6S)
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: N6S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097575
Gene: ENSMUSG00000075272
AA Change: N6S

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: 99.2%
  • 3x: 98.4%
  • 10x: 96.2%
  • 20x: 90.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik G T 6: 146,855,036 (GRCm39) probably benign Het
Abca16 A G 7: 120,065,007 (GRCm39) T555A probably benign Het
Abca4 A T 3: 121,919,862 (GRCm39) D1048V probably damaging Het
Abcf2 G T 5: 24,779,251 (GRCm39) T99N probably damaging Het
Acan A T 7: 78,763,980 (GRCm39) S2119C probably damaging Het
Adgre4 G A 17: 56,106,637 (GRCm39) C292Y probably damaging Het
Alk A G 17: 72,176,837 (GRCm39) F1489S probably damaging Het
Ampd2 A G 3: 107,983,818 (GRCm39) V573A possibly damaging Het
Aoc1 T C 6: 48,882,448 (GRCm39) F130S probably damaging Het
Bbs2 A T 8: 94,801,887 (GRCm39) I554N probably damaging Het
Cacna2d4 C T 6: 119,284,247 (GRCm39) R745W probably damaging Het
Cbfa2t3 T C 8: 123,374,517 (GRCm39) H76R probably benign Het
Cdc14a G T 3: 116,122,171 (GRCm39) N216K probably benign Het
Cep126 T C 9: 8,130,224 (GRCm39) Y69C probably damaging Het
Cep135 A T 5: 76,763,553 (GRCm39) R514S probably benign Het
Cfi A T 3: 129,662,191 (GRCm39) Y390F probably damaging Het
Chd8 T C 14: 52,441,482 (GRCm39) D870G probably benign Het
Clptm1 A G 7: 19,369,599 (GRCm39) V437A possibly damaging Het
Coro2b T C 9: 62,333,119 (GRCm39) N422S possibly damaging Het
Coro7 T C 16: 4,450,118 (GRCm39) E577G probably benign Het
Crh G A 3: 19,748,528 (GRCm39) P38L probably benign Het
Ctif T A 18: 75,568,407 (GRCm39) D577V probably damaging Het
Deup1 T A 9: 15,511,047 (GRCm39) Q244L probably damaging Het
Dhx16 A G 17: 36,192,581 (GRCm39) E171G probably damaging Het
Dnah11 A C 12: 117,880,523 (GRCm39) Y3866D probably damaging Het
Dync1i2 C T 2: 71,081,316 (GRCm39) L508F probably damaging Het
Dync2h1 T A 9: 7,116,642 (GRCm39) probably null Het
E2f4 C T 8: 106,027,140 (GRCm39) Q235* probably null Het
Eif2b3 A G 4: 116,916,002 (GRCm39) H203R probably damaging Het
Epha5 A T 5: 84,534,101 (GRCm39) W77R probably damaging Het
Gpx6 C T 13: 21,501,238 (GRCm39) P109S probably damaging Het
Gsdmc4 A T 15: 63,765,649 (GRCm39) V300E probably damaging Het
Gspt1 A C 16: 11,056,802 (GRCm39) S198A probably benign Het
Itpk1 C T 12: 102,641,707 (GRCm39) V39M probably damaging Het
Kremen2 G T 17: 23,961,811 (GRCm39) P232Q probably damaging Het
Lamtor4 C A 5: 138,257,320 (GRCm39) T74K probably benign Het
Mbtd1 T A 11: 93,822,665 (GRCm39) F492I probably benign Het
Mroh1 G T 15: 76,336,083 (GRCm39) V1486F probably damaging Het
Myg1 G A 15: 102,240,537 (GRCm39) V76M probably damaging Het
Myo16 G T 8: 10,322,766 (GRCm39) Q65H probably damaging Het
Ncapg A G 5: 45,838,790 (GRCm39) E487G probably damaging Het
Ncoa5 T C 2: 164,844,714 (GRCm39) E332G probably damaging Het
Nek6 T A 2: 38,459,643 (GRCm39) I162N possibly damaging Het
Nwd2 C A 5: 63,957,473 (GRCm39) R268S probably damaging Het
Or4c11 T C 2: 88,695,345 (GRCm39) V132A probably benign Het
Or9a7 T C 6: 40,521,272 (GRCm39) I214V probably benign Het
Palm3 T G 8: 84,754,776 (GRCm39) S141A probably benign Het
Pbrm1 T C 14: 30,789,536 (GRCm39) F728L probably damaging Het
Phf3 A G 1: 30,869,632 (GRCm39) V472A probably benign Het
Plekha5 T A 6: 140,514,576 (GRCm39) L35* probably null Het
Ppp1r16a C T 15: 76,577,869 (GRCm39) Q328* probably null Het
Ppp6r2 G A 15: 89,152,785 (GRCm39) E309K possibly damaging Het
Ptpn6 T A 6: 124,704,499 (GRCm39) probably null Het
Rasgrf1 T C 9: 89,882,824 (GRCm39) V882A probably benign Het
Ryr3 T G 2: 112,480,483 (GRCm39) E4335D probably benign Het
Slc12a5 T A 2: 164,835,958 (GRCm39) I892N probably damaging Het
Slc22a2 G A 17: 12,831,318 (GRCm39) M369I probably benign Het
Sox10 A T 15: 79,040,641 (GRCm39) Y300N probably damaging Het
Speg T C 1: 75,352,318 (GRCm39) F79L probably benign Het
Sult1b1 T A 5: 87,665,311 (GRCm39) I208L probably benign Het
Syt9 A G 7: 107,105,737 (GRCm39) N460S probably benign Het
Tecpr1 T A 5: 144,149,410 (GRCm39) N339I possibly damaging Het
Tmem63b C A 17: 45,971,870 (GRCm39) D782Y possibly damaging Het
Ttn T C 2: 76,725,105 (GRCm39) probably benign Het
Upk3bl G T 5: 136,086,185 (GRCm39) R40S probably benign Het
Usp28 T C 9: 48,912,824 (GRCm39) I25T probably damaging Het
Vmn2r27 A G 6: 124,177,583 (GRCm39) Y474H probably damaging Het
Vps13a A T 19: 16,712,246 (GRCm39) probably null Het
Wdr36 A T 18: 32,982,135 (GRCm39) N371I possibly damaging Het
Wnt7b A G 15: 85,421,978 (GRCm39) F228S probably damaging Het
Xirp2 T C 2: 67,338,254 (GRCm39) I165T possibly damaging Het
Zan T G 5: 137,406,659 (GRCm39) probably benign Het
Zfp760 A G 17: 21,942,559 (GRCm39) D578G possibly damaging Het
Zfyve19 T A 2: 119,041,266 (GRCm39) S61T probably benign Het
Zfyve9 T C 4: 108,575,866 (GRCm39) D405G probably damaging 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
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
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'- AGCTTGTAAACGAAGGACTCGGC -3'
(R):5'- TCACACTTCCCTTCCAAGAATGGC -3'

Sequencing Primer
(F):5'- AGCTGCTCATAGCACTCTG -3'
(R):5'- TTCCGTTGGCTTGTTGCCA -3'
Posted On 2013-10-16