Incidental Mutation 'R1075:Tbc1d2b'
ID 85615
Institutional Source Beutler Lab
Gene Symbol Tbc1d2b
Ensembl Gene ENSMUSG00000037410
Gene Name TBC1 domain family, member 2B
Synonyms 1810061M12Rik
MMRRC Submission 039161-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1075 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 90084100-90152861 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 90104393 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 583 (P583L)
Ref Sequence ENSEMBL: ENSMUSP00000045413 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041767]
AlphaFold Q3U0J8
Predicted Effect possibly damaging
Transcript: ENSMUST00000041767
AA Change: P583L

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000045413
Gene: ENSMUSG00000037410
AA Change: P583L

DomainStartEndE-ValueType
PH 35 141 2.66e-9 SMART
low complexity region 324 334 N/A INTRINSIC
low complexity region 343 356 N/A INTRINSIC
Blast:TBC 358 601 2e-25 BLAST
TBC 661 881 3.75e-60 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000120385
Meta Mutation Damage Score 0.1094 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 94.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd6 T C 4: 32,822,232 (GRCm39) H179R probably damaging Het
Apbb2 G T 5: 66,460,021 (GRCm39) P692Q probably damaging Het
Arhgap40 A G 2: 158,391,567 (GRCm39) N627D possibly damaging Het
Asns G A 6: 7,676,076 (GRCm39) R465* probably null Het
Bdkrb1 G A 12: 105,570,562 (GRCm39) V43I probably benign Het
Bod1 T C 11: 31,621,514 (GRCm39) D63G possibly damaging Het
Ccdc39 T C 3: 33,880,629 (GRCm39) K446R probably damaging Het
Csnka2ip T A 16: 64,298,310 (GRCm39) K685* probably null Het
Dennd5a A T 7: 109,517,808 (GRCm39) D609E probably benign Het
Dhx34 G C 7: 15,952,274 (GRCm39) T117S probably benign Het
Dpp4 A T 2: 62,182,630 (GRCm39) D550E probably benign Het
Enah C T 1: 181,784,066 (GRCm39) R81K unknown Het
Epha5 G T 5: 84,298,254 (GRCm39) A383E probably damaging Het
Epha5 C T 5: 84,298,255 (GRCm39) A383T probably damaging Het
Etnppl A T 3: 130,423,212 (GRCm39) M298L probably benign Het
Fam81a G A 9: 70,017,556 (GRCm39) R130* probably null Het
Fbxl3 A C 14: 103,332,839 (GRCm39) H46Q probably benign Het
Gal3st1 A G 11: 3,948,509 (GRCm39) I239V possibly damaging Het
H2-T15 C T 17: 36,367,038 (GRCm39) G335D probably benign Het
Htra4 T C 8: 25,523,612 (GRCm39) I318V probably benign Het
Igdcc4 A G 9: 65,038,932 (GRCm39) T906A possibly damaging Het
Il7r T C 15: 9,516,543 (GRCm39) N86S probably benign Het
Mettl17 A G 14: 52,127,063 (GRCm39) N231D probably benign Het
Mki67 T C 7: 135,299,040 (GRCm39) D1998G probably benign Het
Myh15 G T 16: 48,940,417 (GRCm39) R789L possibly damaging Het
Myh7 A G 14: 55,224,860 (GRCm39) V569A probably benign Het
Nell1 A G 7: 50,503,588 (GRCm39) I617M probably damaging Het
Nlrp1b C G 11: 71,072,512 (GRCm39) E444Q probably benign Het
Or10ak16 T C 4: 118,750,402 (GRCm39) S41P probably damaging Het
Or2b4 T A 17: 38,116,660 (GRCm39) L208* probably null Het
Or2y8 T A 11: 52,035,677 (GRCm39) I227F possibly damaging Het
Psmd2 T C 16: 20,478,709 (GRCm39) S603P probably damaging Het
Slc4a2 T A 5: 24,644,055 (GRCm39) I913N possibly damaging Het
Smyd4 T C 11: 75,291,164 (GRCm39) Y589H probably damaging Het
Spag17 A G 3: 100,000,992 (GRCm39) E1850G probably damaging Het
Srsf11 A T 3: 157,718,427 (GRCm39) probably benign Het
Stra6 A T 9: 58,058,687 (GRCm39) N488I possibly damaging Het
Supt20 C T 3: 54,614,362 (GRCm39) Q160* probably null Het
Uchl1 T A 5: 66,839,808 (GRCm39) F117I probably damaging Het
Usf1 T A 1: 171,245,677 (GRCm39) N307K probably benign Het
Zfp994 T A 17: 22,419,926 (GRCm39) H341L probably damaging Het
Other mutations in Tbc1d2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00589:Tbc1d2b APN 9 90,108,262 (GRCm39) missense probably benign
IGL00791:Tbc1d2b APN 9 90,109,481 (GRCm39) missense probably benign 0.18
IGL01457:Tbc1d2b APN 9 90,087,144 (GRCm39) missense probably damaging 1.00
IGL01535:Tbc1d2b APN 9 90,097,526 (GRCm39) splice site probably benign
IGL02089:Tbc1d2b APN 9 90,104,412 (GRCm39) missense possibly damaging 0.80
IGL02409:Tbc1d2b APN 9 90,104,405 (GRCm39) missense probably benign 0.00
IGL02799:Tbc1d2b APN 9 90,105,487 (GRCm39) splice site probably benign
IGL03198:Tbc1d2b APN 9 90,104,510 (GRCm39) missense probably damaging 1.00
Leone UTSW 9 90,089,940 (GRCm39) missense probably damaging 1.00
ocelot UTSW 9 90,089,937 (GRCm39) missense probably damaging 1.00
panthera UTSW 9 90,108,301 (GRCm39) missense probably benign
pardo UTSW 9 90,101,197 (GRCm39) missense probably benign 0.13
pardus UTSW 9 90,101,063 (GRCm39) nonsense probably null
roar UTSW 9 90,100,975 (GRCm39) nonsense probably null
R0062:Tbc1d2b UTSW 9 90,104,355 (GRCm39) splice site probably benign
R0062:Tbc1d2b UTSW 9 90,104,355 (GRCm39) splice site probably benign
R0671:Tbc1d2b UTSW 9 90,104,558 (GRCm39) splice site probably benign
R0682:Tbc1d2b UTSW 9 90,131,915 (GRCm39) missense probably benign 0.01
R1074:Tbc1d2b UTSW 9 90,104,393 (GRCm39) missense possibly damaging 0.68
R1140:Tbc1d2b UTSW 9 90,108,429 (GRCm39) missense possibly damaging 0.91
R1892:Tbc1d2b UTSW 9 90,100,996 (GRCm39) missense probably damaging 0.98
R4064:Tbc1d2b UTSW 9 90,100,975 (GRCm39) nonsense probably null
R4541:Tbc1d2b UTSW 9 90,087,222 (GRCm39) missense probably damaging 1.00
R4590:Tbc1d2b UTSW 9 90,152,553 (GRCm39) missense possibly damaging 0.81
R4651:Tbc1d2b UTSW 9 90,089,940 (GRCm39) missense probably damaging 1.00
R4652:Tbc1d2b UTSW 9 90,089,940 (GRCm39) missense probably damaging 1.00
R4971:Tbc1d2b UTSW 9 90,100,923 (GRCm39) missense probably benign 0.00
R5086:Tbc1d2b UTSW 9 90,109,510 (GRCm39) missense probably benign
R5131:Tbc1d2b UTSW 9 90,091,812 (GRCm39) missense probably damaging 1.00
R5205:Tbc1d2b UTSW 9 90,089,863 (GRCm39) missense probably damaging 1.00
R5502:Tbc1d2b UTSW 9 90,109,496 (GRCm39) missense probably benign
R5509:Tbc1d2b UTSW 9 90,101,022 (GRCm39) missense probably damaging 1.00
R5534:Tbc1d2b UTSW 9 90,109,559 (GRCm39) missense possibly damaging 0.89
R5729:Tbc1d2b UTSW 9 90,089,925 (GRCm39) missense probably benign 0.22
R5735:Tbc1d2b UTSW 9 90,104,462 (GRCm39) missense possibly damaging 0.71
R5847:Tbc1d2b UTSW 9 90,091,777 (GRCm39) missense probably damaging 1.00
R5928:Tbc1d2b UTSW 9 90,101,197 (GRCm39) missense probably benign 0.13
R6595:Tbc1d2b UTSW 9 90,108,145 (GRCm39) missense probably benign 0.02
R6766:Tbc1d2b UTSW 9 90,108,262 (GRCm39) missense probably benign
R7563:Tbc1d2b UTSW 9 90,108,301 (GRCm39) missense probably benign
R7563:Tbc1d2b UTSW 9 90,101,063 (GRCm39) nonsense probably null
R8126:Tbc1d2b UTSW 9 90,104,369 (GRCm39) missense probably benign 0.00
R8162:Tbc1d2b UTSW 9 90,089,937 (GRCm39) missense probably damaging 1.00
R8928:Tbc1d2b UTSW 9 90,108,190 (GRCm39) missense probably damaging 1.00
R9182:Tbc1d2b UTSW 9 90,152,652 (GRCm39) missense probably damaging 0.99
R9210:Tbc1d2b UTSW 9 90,087,183 (GRCm39) missense possibly damaging 0.74
R9212:Tbc1d2b UTSW 9 90,087,183 (GRCm39) missense possibly damaging 0.74
R9381:Tbc1d2b UTSW 9 90,101,139 (GRCm39) missense possibly damaging 0.63
R9494:Tbc1d2b UTSW 9 90,152,563 (GRCm39) missense probably damaging 1.00
X0066:Tbc1d2b UTSW 9 90,100,711 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- AATGACAACACCTGCTTTGCCATCC -3'
(R):5'- TGTGATGCCTAAGGCTTGCTTTTCC -3'

Sequencing Primer
(F):5'- TGCCATCCTGATAGCACTTG -3'
(R):5'- TGGAGGTAACACCTTGCATTC -3'
Posted On 2013-11-18