Incidental Mutation 'IGL00791:Tbc1d2b'
ID 14384
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbc1d2b
Ensembl Gene ENSMUSG00000037410
Gene Name TBC1 domain family, member 2B
Synonyms 1810061M12Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00791
Quality Score
Status
Chromosome 9
Chromosomal Location 90084100-90152861 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 90109481 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 332 (S332G)
Ref Sequence ENSEMBL: ENSMUSP00000045413 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041767] [ENSMUST00000144348]
AlphaFold Q3U0J8
Predicted Effect probably benign
Transcript: ENSMUST00000041767
AA Change: S332G

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000045413
Gene: ENSMUSG00000037410
AA Change: S332G

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 probably benign
Transcript: ENSMUST00000144348
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asap2 A T 12: 21,289,649 (GRCm39) M519L possibly damaging Het
Bbs7 T C 3: 36,629,436 (GRCm39) *674W probably null Het
Ceacam13 A G 7: 17,747,278 (GRCm39) T244A possibly damaging Het
Cln8 T A 8: 14,944,689 (GRCm39) M1K probably null Het
Cnot9 T C 1: 74,561,533 (GRCm39) V126A probably benign Het
Enpep T C 3: 129,125,731 (GRCm39) T134A possibly damaging Het
Fastkd5 C A 2: 130,458,297 (GRCm39) A98S probably benign Het
Gsdmc A T 15: 63,676,284 (GRCm39) I53N possibly damaging Het
Hexd A G 11: 121,111,986 (GRCm39) S427G probably benign Het
Lrrk2 T G 15: 91,664,044 (GRCm39) L1927R probably damaging Het
Mia2 A G 12: 59,155,085 (GRCm39) E267G possibly damaging Het
Plec A G 15: 76,057,137 (GRCm39) S4132P probably damaging Het
Rtn3 A G 19: 7,412,434 (GRCm39) L780P probably damaging Het
Serpinb9c A T 13: 33,335,867 (GRCm39) V195E probably damaging Het
Slit2 T C 5: 48,461,374 (GRCm39) Y1474H possibly damaging Het
Taf15 A G 11: 83,379,749 (GRCm39) probably null Het
Tbc1d17 A G 7: 44,494,737 (GRCm39) S194P probably benign Het
Tmpo A T 10: 90,998,420 (GRCm39) S456T possibly damaging Het
Tubgcp2 A G 7: 139,581,411 (GRCm39) L608P probably damaging Het
Zfp39 T A 11: 58,783,885 (GRCm39) probably benign Het
Zfp935 A C 13: 62,602,278 (GRCm39) N307K probably benign Het
Other mutations in Tbc1d2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00589:Tbc1d2b APN 9 90,108,262 (GRCm39) missense probably benign
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
R1075: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
Posted On 2012-12-06