Incidental Mutation 'IGL00594:Tbccd1'
ID 3992
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbccd1
Ensembl Gene ENSMUSG00000004462
Gene Name TBCC domain containing 1
Synonyms 5730478M09Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00594
Quality Score
Status
Chromosome 16
Chromosomal Location 22631964-22676419 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 22641294 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 361 (F361S)
Ref Sequence ENSEMBL: ENSMUSP00000156210 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004576] [ENSMUST00000232075] [ENSMUST00000232251] [ENSMUST00000232345]
AlphaFold Q640P7
Predicted Effect possibly damaging
Transcript: ENSMUST00000004576
AA Change: F361S

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000004576
Gene: ENSMUSG00000004462
AA Change: F361S

DomainStartEndE-ValueType
low complexity region 118 129 N/A INTRINSIC
low complexity region 144 160 N/A INTRINSIC
low complexity region 179 192 N/A INTRINSIC
CARP 337 374 5.55e-5 SMART
CARP 375 409 8.75e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000231229
Predicted Effect possibly damaging
Transcript: ENSMUST00000232075
AA Change: F361S

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000232251
Predicted Effect probably benign
Transcript: ENSMUST00000232345
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232555
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232681
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A130010J15Rik A G 1: 192,857,109 (GRCm39) T154A probably benign Het
Acox1 A G 11: 116,065,331 (GRCm39) probably benign Het
Adgrg2 G A X: 159,268,773 (GRCm39) V677I probably benign Het
Aifm1 T C X: 47,570,976 (GRCm39) T386A probably benign Het
Aspm T C 1: 139,415,160 (GRCm39) probably benign Het
Fgfr2 A G 7: 129,830,453 (GRCm39) V175A probably damaging Het
Gm382 T C X: 125,970,775 (GRCm39) Y987H probably benign Het
Golga3 A T 5: 110,352,841 (GRCm39) M911L probably benign Het
Hmgxb3 A G 18: 61,290,811 (GRCm39) V354A probably benign Het
Ifne T C 4: 88,798,041 (GRCm39) N126D probably benign Het
Igkv3-7 T C 6: 70,584,807 (GRCm39) V49A possibly damaging Het
Kbtbd8 A T 6: 95,103,494 (GRCm39) Y381F probably damaging Het
Klc1 C T 12: 111,743,318 (GRCm39) T215M probably damaging Het
Lrp2 A T 2: 69,316,624 (GRCm39) V2119E probably benign Het
Lrrc7 A G 3: 157,892,647 (GRCm39) V322A probably benign Het
Mageb5b C T X: 90,679,091 (GRCm39) Q348* probably null Het
Ms4a14 A G 19: 11,278,983 (GRCm39) S1192P possibly damaging Het
Ndufaf6 T C 4: 11,062,127 (GRCm39) Y168C probably damaging Het
Plcg2 C T 8: 118,282,810 (GRCm39) T97I possibly damaging Het
Rasgrp4 T C 7: 28,847,966 (GRCm39) probably benign Het
Rgs22 T C 15: 36,083,777 (GRCm39) H515R probably benign Het
Rpn1 G T 6: 88,072,611 (GRCm39) R318L probably damaging Het
Shroom2 A T X: 151,396,512 (GRCm39) F1359Y probably damaging Het
Tars3 T A 7: 65,325,880 (GRCm39) probably null Het
Tbc1d12 A G 19: 38,884,487 (GRCm39) E346G possibly damaging Het
Tenm1 G T X: 41,803,913 (GRCm39) P837T probably benign Het
Tmem144 A G 3: 79,746,474 (GRCm39) V27A probably benign Het
Zfp616 T A 11: 73,973,789 (GRCm39) N19K possibly damaging Het
Zkscan7 T C 9: 122,724,659 (GRCm39) Y543H possibly damaging Het
Other mutations in Tbccd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4243001:Tbccd1 UTSW 16 22,641,087 (GRCm39) missense probably damaging 1.00
PIT4402001:Tbccd1 UTSW 16 22,640,873 (GRCm39) missense probably damaging 1.00
R0055:Tbccd1 UTSW 16 22,660,655 (GRCm39) missense probably damaging 1.00
R0092:Tbccd1 UTSW 16 22,644,844 (GRCm39) missense possibly damaging 0.84
R0894:Tbccd1 UTSW 16 22,640,995 (GRCm39) missense probably benign 0.27
R1183:Tbccd1 UTSW 16 22,660,519 (GRCm39) missense probably benign 0.01
R1795:Tbccd1 UTSW 16 22,640,995 (GRCm39) missense probably benign 0.27
R1813:Tbccd1 UTSW 16 22,641,271 (GRCm39) missense probably benign
R2049:Tbccd1 UTSW 16 22,637,291 (GRCm39) splice site probably null
R2131:Tbccd1 UTSW 16 22,660,739 (GRCm39) missense probably benign 0.00
R3964:Tbccd1 UTSW 16 22,660,523 (GRCm39) missense probably damaging 1.00
R4201:Tbccd1 UTSW 16 22,644,698 (GRCm39) missense probably damaging 0.96
R4602:Tbccd1 UTSW 16 22,637,285 (GRCm39) splice site probably null
R4921:Tbccd1 UTSW 16 22,660,649 (GRCm39) missense probably benign 0.02
R6493:Tbccd1 UTSW 16 22,641,216 (GRCm39) missense probably damaging 1.00
R6554:Tbccd1 UTSW 16 22,640,874 (GRCm39) missense probably damaging 0.99
R6663:Tbccd1 UTSW 16 22,652,778 (GRCm39) frame shift probably null
R7220:Tbccd1 UTSW 16 22,652,747 (GRCm39) missense probably benign 0.21
R7431:Tbccd1 UTSW 16 22,644,563 (GRCm39) missense probably benign 0.03
R8090:Tbccd1 UTSW 16 22,660,805 (GRCm39) missense probably benign 0.00
R8186:Tbccd1 UTSW 16 22,637,189 (GRCm39) missense probably damaging 1.00
R8315:Tbccd1 UTSW 16 22,641,564 (GRCm39) missense probably damaging 1.00
R8545:Tbccd1 UTSW 16 22,652,779 (GRCm39) missense probably benign 0.09
R8688:Tbccd1 UTSW 16 22,641,208 (GRCm39) missense possibly damaging 0.54
R9522:Tbccd1 UTSW 16 22,641,249 (GRCm39) missense possibly damaging 0.58
R9775:Tbccd1 UTSW 16 22,652,666 (GRCm39) missense probably damaging 1.00
Posted On 2012-04-20