Incidental Mutation 'R7294:Tbc1d22a'
ID 566638
Institutional Source Beutler Lab
Gene Symbol Tbc1d22a
Ensembl Gene ENSMUSG00000051864
Gene Name TBC1 domain family, member 22a
Synonyms D15Ertd781e
MMRRC Submission 045399-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7294 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 86098660-86382704 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 86196036 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 336 (Y336N)
Ref Sequence ENSEMBL: ENSMUSP00000065721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063414]
AlphaFold Q8R5A6
Predicted Effect possibly damaging
Transcript: ENSMUST00000063414
AA Change: Y336N

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000065721
Gene: ENSMUSG00000051864
AA Change: Y336N

DomainStartEndE-ValueType
Blast:TBC 25 94 5e-34 BLAST
low complexity region 118 133 N/A INTRINSIC
TBC 218 471 2.35e-43 SMART
Blast:TBC 476 515 1e-9 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 94% (49/52)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T A 6: 121,650,541 (GRCm39) Y1216* probably null Het
Abca17 G A 17: 24,539,983 (GRCm39) T415M not run Het
Adam1a G T 5: 121,658,068 (GRCm39) C408* probably null Het
Adamts9 G A 6: 92,871,270 (GRCm39) T603M probably damaging Het
Amdhd1 T C 10: 93,370,301 (GRCm39) E179G probably benign Het
Bcan T C 3: 87,902,831 (GRCm39) T316A possibly damaging Het
Bpifb9a C T 2: 154,109,616 (GRCm39) T504M probably damaging Het
C5ar1 T C 7: 15,982,950 (GRCm39) I23M probably benign Het
Cd109 A T 9: 78,619,917 (GRCm39) E1386D probably damaging Het
Cdcp1 C T 9: 123,006,986 (GRCm39) C587Y probably benign Het
Cdh22 A C 2: 164,984,013 (GRCm39) V413G possibly damaging Het
Cfap44 A G 16: 44,225,256 (GRCm39) probably benign Het
Col2a1 A G 15: 97,885,168 (GRCm39) probably null Het
Col6a3 A T 1: 90,756,005 (GRCm39) Y95N probably damaging Het
Dusp13b A G 14: 21,783,782 (GRCm39) S178P possibly damaging Het
Fhod3 A G 18: 25,266,037 (GRCm39) E1575G probably damaging Het
Gfpt2 C T 11: 49,709,435 (GRCm39) R209* probably null Het
Heg1 T C 16: 33,546,859 (GRCm39) S573P probably damaging Het
Hinfp A G 9: 44,210,567 (GRCm39) C152R probably damaging Het
Hmgcs2 C T 3: 98,198,211 (GRCm39) T38I probably benign Het
Jakmip1 T C 5: 37,274,804 (GRCm39) F441L possibly damaging Het
Kcnj5 A C 9: 32,234,045 (GRCm39) L90R probably damaging Het
Kpna4 A C 3: 68,999,956 (GRCm39) probably null Het
Krt15 T A 11: 100,022,848 (GRCm39) I456F possibly damaging Het
Leprotl1 A T 8: 34,606,006 (GRCm39) probably null Het
Muc4 A T 16: 32,576,835 (GRCm39) T42S possibly damaging Het
Naa80 T G 9: 107,460,182 (GRCm39) F26V possibly damaging Het
Nr1h5 T C 3: 102,852,578 (GRCm39) T419A probably benign Het
Nutm1 G A 2: 112,080,401 (GRCm39) R505C probably damaging Het
Or4c12 A C 2: 89,774,068 (GRCm39) Y130* probably null Het
Or52b3 T A 7: 102,204,160 (GRCm39) I223N probably damaging Het
Pax6 T A 2: 105,515,246 (GRCm39) C66* probably null Het
Pde10a A T 17: 8,975,853 (GRCm39) N53Y probably benign Het
Pdgfra A G 5: 75,342,312 (GRCm39) N711S probably benign Het
Rimkla A T 4: 119,325,663 (GRCm39) S249T probably damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,127 (GRCm39) probably benign Het
Scn3a A G 2: 65,302,685 (GRCm39) S1254P probably damaging Het
Slc26a1 G T 5: 108,821,698 (GRCm39) R80S possibly damaging Het
Slc2a4 T C 11: 69,836,225 (GRCm39) D262G probably benign Het
Specc1 T A 11: 62,009,163 (GRCm39) S226R probably benign Het
Srsf4 A G 4: 131,627,772 (GRCm39) S289G unknown Het
Stil T C 4: 114,864,480 (GRCm39) V127A probably benign Het
Syne1 A T 10: 5,047,483 (GRCm39) probably null Het
Tbc1d8 C T 1: 39,445,843 (GRCm39) G116E probably damaging Het
Thrb A G 14: 17,826,963 (GRCm38) probably benign Het
Timd5 T A 11: 46,426,439 (GRCm39) I182K probably benign Het
Tln1 G T 4: 43,534,399 (GRCm39) H2253Q probably benign Het
Tmem131 A C 1: 36,893,928 (GRCm39) N158K possibly damaging Het
Toporsl A C 4: 52,611,903 (GRCm39) T599P probably benign Het
Tpr C T 1: 150,279,638 (GRCm39) R256C probably damaging Het
Triobp C T 15: 78,858,176 (GRCm39) A1259V probably damaging Het
Zfp40 A G 17: 23,395,411 (GRCm39) I392T possibly damaging Het
Other mutations in Tbc1d22a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01022:Tbc1d22a APN 15 86,185,756 (GRCm39) missense probably damaging 1.00
IGL01483:Tbc1d22a APN 15 86,275,404 (GRCm39) missense probably benign 0.24
IGL02137:Tbc1d22a APN 15 86,183,870 (GRCm39) missense probably benign 0.02
IGL02543:Tbc1d22a APN 15 86,123,372 (GRCm39) missense probably benign 0.30
R0138:Tbc1d22a UTSW 15 86,183,885 (GRCm39) missense probably damaging 1.00
R1168:Tbc1d22a UTSW 15 86,176,335 (GRCm39) missense probably benign 0.01
R1294:Tbc1d22a UTSW 15 86,381,027 (GRCm39) missense probably damaging 0.98
R1565:Tbc1d22a UTSW 15 86,119,770 (GRCm39) missense possibly damaging 0.48
R1586:Tbc1d22a UTSW 15 86,235,852 (GRCm39) splice site probably null
R1703:Tbc1d22a UTSW 15 86,123,416 (GRCm39) missense probably benign 0.09
R1822:Tbc1d22a UTSW 15 86,119,770 (GRCm39) missense possibly damaging 0.48
R1823:Tbc1d22a UTSW 15 86,119,770 (GRCm39) missense possibly damaging 0.48
R1824:Tbc1d22a UTSW 15 86,119,770 (GRCm39) missense possibly damaging 0.48
R1925:Tbc1d22a UTSW 15 86,123,350 (GRCm39) missense probably damaging 1.00
R2014:Tbc1d22a UTSW 15 86,183,885 (GRCm39) missense probably damaging 0.99
R2015:Tbc1d22a UTSW 15 86,183,885 (GRCm39) missense probably damaging 0.99
R2035:Tbc1d22a UTSW 15 86,275,266 (GRCm39) splice site probably null
R4380:Tbc1d22a UTSW 15 86,235,935 (GRCm39) missense probably damaging 1.00
R4616:Tbc1d22a UTSW 15 86,119,886 (GRCm39) missense probably damaging 1.00
R4690:Tbc1d22a UTSW 15 86,196,037 (GRCm39) missense probably damaging 1.00
R4825:Tbc1d22a UTSW 15 86,235,935 (GRCm39) missense probably damaging 1.00
R4883:Tbc1d22a UTSW 15 86,381,117 (GRCm39) missense possibly damaging 0.91
R4920:Tbc1d22a UTSW 15 86,195,949 (GRCm39) missense probably benign 0.20
R4979:Tbc1d22a UTSW 15 86,275,287 (GRCm39) missense probably damaging 1.00
R5913:Tbc1d22a UTSW 15 86,235,929 (GRCm39) missense probably damaging 0.98
R5916:Tbc1d22a UTSW 15 86,098,809 (GRCm39) missense possibly damaging 0.57
R6360:Tbc1d22a UTSW 15 86,098,830 (GRCm39) missense probably damaging 1.00
R6483:Tbc1d22a UTSW 15 86,185,768 (GRCm39) missense possibly damaging 0.48
R7138:Tbc1d22a UTSW 15 86,123,356 (GRCm39) missense probably benign 0.07
R7645:Tbc1d22a UTSW 15 86,119,742 (GRCm39) missense probably benign 0.01
R7704:Tbc1d22a UTSW 15 86,250,876 (GRCm39) missense probably damaging 1.00
R9204:Tbc1d22a UTSW 15 86,098,803 (GRCm39) missense probably benign 0.15
R9370:Tbc1d22a UTSW 15 86,123,441 (GRCm39) missense probably benign 0.00
R9459:Tbc1d22a UTSW 15 86,120,021 (GRCm39) missense possibly damaging 0.57
R9792:Tbc1d22a UTSW 15 86,119,839 (GRCm39) missense probably damaging 0.99
R9793:Tbc1d22a UTSW 15 86,119,839 (GRCm39) missense probably damaging 0.99
RF013:Tbc1d22a UTSW 15 86,183,975 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- CCTTAGTGTTGGAGACAGTGAG -3'
(R):5'- GGATGGATGGACTCTTTAGAGAAC -3'

Sequencing Primer
(F):5'- GTGTTGGAGACAGTGAGAAATATTG -3'
(R):5'- GGACTCTTTAGAGAACCCTGACTAG -3'
Posted On 2019-06-26