Incidental Mutation 'R9370:Tbc1d22a'
ID 709283
Institutional Source Beutler Lab
Gene Symbol Tbc1d22a
Ensembl Gene ENSMUSG00000051864
Gene Name TBC1 domain family, member 22a
Synonyms D15Ertd781e
MMRRC Submission 068964-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9370 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 86098660-86382704 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 86123441 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 194 (T194I)
Ref Sequence ENSEMBL: ENSMUSP00000065721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063414] [ENSMUST00000229242]
AlphaFold Q8R5A6
Predicted Effect probably benign
Transcript: ENSMUST00000063414
AA Change: T194I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000065721
Gene: ENSMUSG00000051864
AA Change: T194I

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
Predicted Effect possibly damaging
Transcript: ENSMUST00000229242
AA Change: T158I

PolyPhen 2 Score 0.588 (Sensitivity: 0.87; Specificity: 0.91)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1d1 T A 6: 37,544,099 (GRCm39) *326R probably null Het
Cntn5 T A 9: 9,833,520 (GRCm39) I344F probably benign Het
Cyp2t4 G A 7: 26,854,717 (GRCm39) V66M possibly damaging Het
Eln C T 5: 134,741,476 (GRCm39) V563I unknown Het
Epb41l5 T C 1: 119,561,312 (GRCm39) Y83C probably damaging Het
Epha8 T C 4: 136,673,511 (GRCm39) D91G possibly damaging Het
Fscn3 T C 6: 28,434,535 (GRCm39) V370A probably benign Het
Gcc2 A G 10: 58,131,940 (GRCm39) N1550S probably benign Het
Gck T C 11: 5,852,244 (GRCm39) D365G possibly damaging Het
Hhatl C T 9: 121,617,836 (GRCm39) G251E possibly damaging Het
Hspa12a A G 19: 58,813,708 (GRCm39) F139S probably damaging Het
Ikzf2 T C 1: 69,578,018 (GRCm39) D497G probably damaging Het
Ino80 A G 2: 119,232,848 (GRCm39) S1157P probably damaging Het
Jmjd6 A G 11: 116,729,952 (GRCm39) I315T probably benign Het
Jup C T 11: 100,270,391 (GRCm39) C372Y probably damaging Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Lyst C T 13: 13,935,333 (GRCm39) H3601Y probably damaging Het
Mars2 T C 1: 55,276,624 (GRCm39) S76P probably benign Het
Mtmr10 A G 7: 63,969,249 (GRCm39) E337G probably benign Het
Myo5b A G 18: 74,760,246 (GRCm39) D254G possibly damaging Het
Nell1 A T 7: 49,770,292 (GRCm39) E117V probably damaging Het
Pcdhgb7 T C 18: 37,884,937 (GRCm39) S36P possibly damaging Het
Rps6kc1 A C 1: 190,531,222 (GRCm39) L927V probably damaging Het
Sacs T A 14: 61,441,080 (GRCm39) I1042N probably damaging Het
Skint2 A G 4: 112,481,259 (GRCm39) N41D possibly damaging Het
Slc5a11 A G 7: 122,834,855 (GRCm39) T5A probably benign Het
Tmem234 T A 4: 129,500,922 (GRCm39) V93D probably damaging Het
Trim43b T C 9: 88,971,559 (GRCm39) E199G probably benign Het
Ttc24 A T 3: 87,980,136 (GRCm39) V148E probably benign Het
Utp15 A G 13: 98,387,119 (GRCm39) F434L probably damaging Het
Vmn2r81 A G 10: 79,104,424 (GRCm39) Y349C probably damaging Het
Xpo5 T A 17: 46,546,844 (GRCm39) V865E probably damaging Het
Zfhx3 C T 8: 109,521,340 (GRCm39) R821C probably damaging Het
Zfp90 A G 8: 107,145,791 (GRCm39) D41G probably damaging Het
Zzef1 T A 11: 72,744,148 (GRCm39) C835S probably 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
R7294:Tbc1d22a UTSW 15 86,196,036 (GRCm39) missense possibly damaging 0.90
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
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'- TCACAAAGGCCCATGGTAAC -3'
(R):5'- AGTCCAACTACCAGCATTTTAGG -3'

Sequencing Primer
(F):5'- TGAGCACCTGGGCACATG -3'
(R):5'- ACCAGCATTTTAGGGACTCG -3'
Posted On 2022-04-18