Incidental Mutation 'R3964:Tbccd1'
ID 312279
Institutional Source Beutler Lab
Gene Symbol Tbccd1
Ensembl Gene ENSMUSG00000004462
Gene Name TBCC domain containing 1
Synonyms 5730478M09Rik
MMRRC Submission 040933-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3964 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 22631964-22676419 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 22660523 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 98 (S98P)
Ref Sequence ENSEMBL: ENSMUSP00000156050 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004576] [ENSMUST00000231513] [ENSMUST00000232075] [ENSMUST00000232251] [ENSMUST00000232345]
AlphaFold Q640P7
Predicted Effect probably benign
Transcript: ENSMUST00000004576
AA Change: S98P

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000004576
Gene: ENSMUSG00000004462
AA Change: S98P

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 noncoding transcript
Transcript: ENSMUST00000231267
Predicted Effect probably benign
Transcript: ENSMUST00000231513
AA Change: S98P

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232009
Predicted Effect probably benign
Transcript: ENSMUST00000232075
AA Change: S98P

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000232251
AA Change: S98P

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably damaging
Transcript: ENSMUST00000232345
AA Change: S98P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232681
Meta Mutation Damage Score 0.2313 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency 98% (64/65)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam21 C A 12: 81,607,583 (GRCm39) A60S possibly damaging Het
Arpp21 C G 9: 111,894,844 (GRCm39) V805L probably damaging Het
C1galt1c1 A T X: 37,720,453 (GRCm39) V181E probably benign Het
Cdh18 A T 15: 23,474,187 (GRCm39) T686S probably benign Het
Cemip T A 7: 83,600,717 (GRCm39) Y968F probably benign Het
Cep70 T A 9: 99,180,587 (GRCm39) F581I probably damaging Het
Ctc1 T A 11: 68,921,954 (GRCm39) V800D probably damaging Het
Cttnbp2nl T C 3: 104,913,321 (GRCm39) K188E probably damaging Het
Cux1 A G 5: 136,311,796 (GRCm39) V1180A probably damaging Het
Cux2 G T 5: 122,025,539 (GRCm39) S43* probably null Het
Dhx57 T A 17: 80,572,541 (GRCm39) K711* probably null Het
Ehbp1l1 C T 19: 5,760,601 (GRCm39) probably null Het
Esyt3 T A 9: 99,202,375 (GRCm39) D512V probably damaging Het
Gadl1 T C 9: 115,794,676 (GRCm39) S284P probably damaging Het
Gm14137 T A 2: 119,005,497 (GRCm39) S19T probably benign Het
Gpr141b A G 13: 19,913,614 (GRCm39) noncoding transcript Het
Gprc6a CAAA CA 10: 51,491,776 (GRCm39) probably null Het
Gsdmc2 A G 15: 63,721,683 (GRCm39) probably benign Het
Hmcn1 T C 1: 150,449,320 (GRCm39) T110A probably benign Het
Il23r G A 6: 67,443,281 (GRCm39) T274I probably benign Het
Inhbb C A 1: 119,345,291 (GRCm39) G333W probably damaging Het
Kcnb1 C T 2: 166,946,412 (GRCm39) C812Y probably damaging Het
Lrp1b A G 2: 41,202,482 (GRCm39) probably benign Het
Med31 C T 11: 72,102,755 (GRCm39) A118T probably benign Het
Mov10l1 A G 15: 88,896,366 (GRCm39) I737V probably benign Het
Mrs2 A G 13: 25,185,746 (GRCm39) I142T possibly damaging Het
Ms4a6b T C 19: 11,499,098 (GRCm39) S71P probably benign Het
Muc2 G A 7: 141,286,233 (GRCm39) R120H probably benign Het
Muc5b A T 7: 141,420,705 (GRCm39) I4191F possibly damaging Het
Myrf T C 19: 10,196,979 (GRCm39) E267G probably benign Het
Nfatc2 C T 2: 168,346,469 (GRCm39) S875N probably benign Het
Nmi T C 2: 51,846,081 (GRCm39) E67G possibly damaging Het
Nrap T C 19: 56,330,576 (GRCm39) S1126G probably damaging Het
Nucb2 A G 7: 116,128,110 (GRCm39) E273G probably damaging Het
Or10g9 A T 9: 39,911,767 (GRCm39) V252E possibly damaging Het
Or1j4 A G 2: 36,740,729 (GRCm39) T224A probably benign Het
Or8b1b T C 9: 38,375,979 (GRCm39) I214T probably benign Het
Or8b51 G A 9: 38,569,023 (GRCm39) L222F probably benign Het
Pcdhga12 A T 18: 37,900,254 (GRCm39) Q362L probably benign Het
Peak1 C T 9: 56,167,263 (GRCm39) E222K probably damaging Het
Pik3r1 T C 13: 101,825,193 (GRCm39) E458G possibly damaging Het
Pls1 T C 9: 95,667,665 (GRCm39) Q81R probably benign Het
Plxdc2 T A 2: 16,665,651 (GRCm39) F284I probably damaging Het
Plxna2 C T 1: 194,431,625 (GRCm39) S538F probably damaging Het
Pole A G 5: 110,460,648 (GRCm39) K1143E probably damaging Het
Ppfia4 A T 1: 134,250,754 (GRCm39) D478E probably benign Het
Ptprd A G 4: 75,978,073 (GRCm39) probably benign Het
Ptprj A G 2: 90,298,785 (GRCm39) I315T probably benign Het
Rims1 T C 1: 22,497,709 (GRCm39) probably null Het
Rnf13 G A 3: 57,676,533 (GRCm39) G63S probably damaging Het
Rsf1 GCG GCGACGGCGACG 7: 97,229,114 (GRCm39) probably benign Het
Shld2 T A 14: 33,981,644 (GRCm39) Q498L probably damaging Het
Slc50a1 T C 3: 89,176,093 (GRCm39) I151V probably benign Het
Snx27 T A 3: 94,438,613 (GRCm39) R207S probably damaging Het
Sos1 C T 17: 80,762,608 (GRCm39) R73H probably damaging Het
Tbc1d9b A G 11: 50,059,523 (GRCm39) E975G possibly damaging Het
Timd5 T A 11: 46,426,340 (GRCm39) V149D possibly damaging Het
Tmx4 T C 2: 134,441,981 (GRCm39) I206V possibly damaging Het
Upf1 C T 8: 70,791,110 (GRCm39) R544H probably damaging Het
Usp19 T A 9: 108,375,228 (GRCm39) V818E probably damaging Het
Wdr38 A G 2: 38,889,362 (GRCm39) Y51C probably damaging Het
Zfp456 T C 13: 67,514,900 (GRCm39) T269A probably benign Het
Zfp628 T C 7: 4,924,744 (GRCm39) S989P probably benign Het
Other mutations in Tbccd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00594:Tbccd1 APN 16 22,641,294 (GRCm39) missense possibly damaging 0.81
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
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
Predicted Primers PCR Primer
(F):5'- CTTCAGGAGTGGGTAGCATTAAG -3'
(R):5'- TAGCCACCTATGTGCGAACTC -3'

Sequencing Primer
(F):5'- TGGGTAGCATTAAGGACTAATTAAGC -3'
(R):5'- TATGTGCGAACTCGGGCCAC -3'
Posted On 2015-04-29