Incidental Mutation 'R7656:Tbc1d19'
ID 591186
Institutional Source Beutler Lab
Gene Symbol Tbc1d19
Ensembl Gene ENSMUSG00000039178
Gene Name TBC1 domain family, member 19
Synonyms 2810453K03Rik
MMRRC Submission 045732-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.199) question?
Stock # R7656 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 53966948-54061307 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 54054377 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 455 (Y455C)
Ref Sequence ENSEMBL: ENSMUSP00000040585 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037337] [ENSMUST00000201958]
AlphaFold Q8VDV7
Predicted Effect probably damaging
Transcript: ENSMUST00000037337
AA Change: Y455C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040585
Gene: ENSMUSG00000039178
AA Change: Y455C

DomainStartEndE-ValueType
TBC 248 496 8.07e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000201958
Meta Mutation Damage Score 0.2108 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 100% (66/66)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abitram A G 4: 56,804,218 (GRCm39) I78V probably benign Het
Acot2 A G 12: 84,039,691 (GRCm39) Y400C probably benign Het
Agbl1 A G 7: 76,059,080 (GRCm39) M237V Het
Atrnl1 C A 19: 57,599,811 (GRCm39) S9* probably null Het
BC031181 A T 18: 75,142,406 (GRCm39) K71* probably null Het
Bmal2 A G 6: 146,707,940 (GRCm39) T21A probably benign Het
Brpf1 A T 6: 113,291,835 (GRCm39) M294L probably benign Het
Camk2g T G 14: 20,789,410 (GRCm39) D382A possibly damaging Het
Ccdc33 T A 9: 58,025,748 (GRCm39) R94W probably damaging Het
Cd244a T A 1: 171,404,823 (GRCm39) L225Q probably damaging Het
Chsy1 G T 7: 65,820,778 (GRCm39) V338F probably damaging Het
Col14a1 A G 15: 55,225,846 (GRCm39) I170V unknown Het
Col6a2 G T 10: 76,443,590 (GRCm39) Q492K probably benign Het
Dnah12 G T 14: 26,581,273 (GRCm39) V3168L probably benign Het
Dnah7a T C 1: 53,535,164 (GRCm39) S2699G possibly damaging Het
Efhc1 A G 1: 21,031,281 (GRCm39) probably null Het
Fsip2 A G 2: 82,807,886 (GRCm39) K1402E possibly damaging Het
Ghdc C T 11: 100,660,493 (GRCm39) A127T probably benign Het
Glp1r T C 17: 31,149,572 (GRCm39) probably null Het
Gm19410 A T 8: 36,276,253 (GRCm39) M1637L probably benign Het
Grm5 T G 7: 87,779,459 (GRCm39) D998E probably benign Het
Krtcap3 A G 5: 31,409,904 (GRCm39) T157A probably damaging Het
Ltf A T 9: 110,853,462 (GRCm39) K18* probably null Het
Luc7l2 A G 6: 38,580,399 (GRCm39) R333G unknown Het
Mdc1 T G 17: 36,161,773 (GRCm39) S895R probably benign Het
Mef2a G A 7: 66,945,142 (GRCm39) T80M probably damaging Het
Mitd1 T A 1: 37,924,356 (GRCm39) I65F probably benign Het
Mms19 A G 19: 41,933,011 (GRCm39) L1026P probably damaging Het
Mtbp G T 15: 55,472,922 (GRCm39) V629L unknown Het
Ncapd3 T A 9: 26,966,801 (GRCm39) I545N possibly damaging Het
Nin G A 12: 70,089,542 (GRCm39) T1291M Het
Or10z1 T A 1: 174,077,784 (GRCm39) K236N probably damaging Het
Or5b123 A T 19: 13,597,197 (GRCm39) I181F probably damaging Het
Orc3 G T 4: 34,587,032 (GRCm39) C352* probably null Het
Oxct2b G A 4: 123,011,550 (GRCm39) G490D probably benign Het
Pcdhb16 A T 18: 37,612,458 (GRCm39) T473S probably benign Het
Phkg2 G A 7: 127,182,074 (GRCm39) G365D probably damaging Het
Pira1 T C 7: 3,742,281 (GRCm39) E82G probably damaging Het
Plekhd1 A G 12: 80,768,934 (GRCm39) probably null Het
Ppp2r3d A T 9: 101,088,911 (GRCm39) F471I probably benign Het
Prl3d1 T C 13: 27,284,018 (GRCm39) C196R possibly damaging Het
Prmt1 A T 7: 44,633,552 (GRCm39) F14L probably benign Het
Prox1 A G 1: 189,894,418 (GRCm39) L9P probably damaging Het
Ptpn13 T A 5: 103,688,849 (GRCm39) F881I probably benign Het
Rab3ip A G 10: 116,750,044 (GRCm39) I363T probably benign Het
Rapgef3 T C 15: 97,659,090 (GRCm39) E134G probably damaging Het
Rapgef6 C T 11: 54,585,279 (GRCm39) P1559L probably benign Het
Rnf180 T C 13: 105,304,096 (GRCm39) K507E probably damaging Het
Rpl3l T C 17: 24,949,960 (GRCm39) I53T probably benign Het
Rtl1 T C 12: 109,557,442 (GRCm39) I1466V unknown Het
Saxo2 A G 7: 82,284,559 (GRCm39) Y100H probably damaging Het
Selenoh G T 2: 84,500,724 (GRCm39) R39S probably damaging Het
Sgsm2 A G 11: 74,756,323 (GRCm39) V342A probably damaging Het
Slc26a9 T A 1: 131,690,982 (GRCm39) F587I possibly damaging Het
Smoc1 A T 12: 81,152,682 (GRCm39) Q91L possibly damaging Het
Spag9 A C 11: 93,887,389 (GRCm39) H98P possibly damaging Het
Spata31e3 T G 13: 50,401,122 (GRCm39) K401N probably benign Het
T2 T A 17: 8,637,047 (GRCm39) C337* probably null Het
Thbd A G 2: 148,249,340 (GRCm39) L176P probably damaging Het
Tmem116 A G 5: 121,590,252 (GRCm39) probably null Het
Tmem25 C T 9: 44,709,640 (GRCm39) V54I possibly damaging Het
Trpm4 C T 7: 44,971,233 (GRCm39) V378I probably benign Het
Trrap G T 5: 144,779,422 (GRCm39) W3129C probably damaging Het
Ttn A T 2: 76,558,660 (GRCm39) D29740E probably damaging Het
Vcan C T 13: 89,833,233 (GRCm39) C3073Y probably damaging Het
Xrra1 T A 7: 99,560,189 (GRCm39) D388E probably benign Het
Other mutations in Tbc1d19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01121:Tbc1d19 APN 5 54,054,404 (GRCm39) nonsense probably null
IGL01684:Tbc1d19 APN 5 54,014,221 (GRCm39) missense probably benign 0.31
IGL02476:Tbc1d19 APN 5 54,046,755 (GRCm39) splice site probably null
IGL02869:Tbc1d19 APN 5 53,992,559 (GRCm39) missense probably benign 0.02
IGL03036:Tbc1d19 APN 5 54,054,389 (GRCm39) missense probably damaging 1.00
IGL03099:Tbc1d19 APN 5 54,040,997 (GRCm39) splice site probably benign
LCD18:Tbc1d19 UTSW 5 53,974,051 (GRCm39) intron probably benign
R0194:Tbc1d19 UTSW 5 54,017,498 (GRCm39) missense probably damaging 1.00
R1729:Tbc1d19 UTSW 5 53,986,714 (GRCm39) missense probably damaging 1.00
R1776:Tbc1d19 UTSW 5 54,046,653 (GRCm39) splice site probably null
R1784:Tbc1d19 UTSW 5 53,986,714 (GRCm39) missense probably damaging 1.00
R1902:Tbc1d19 UTSW 5 53,986,695 (GRCm39) missense probably benign 0.00
R3431:Tbc1d19 UTSW 5 54,005,548 (GRCm39) unclassified probably benign
R3432:Tbc1d19 UTSW 5 54,005,548 (GRCm39) unclassified probably benign
R4333:Tbc1d19 UTSW 5 54,029,619 (GRCm39) missense possibly damaging 0.93
R4335:Tbc1d19 UTSW 5 54,029,619 (GRCm39) missense possibly damaging 0.93
R4681:Tbc1d19 UTSW 5 54,029,595 (GRCm39) missense probably damaging 1.00
R4812:Tbc1d19 UTSW 5 53,967,148 (GRCm39) missense probably damaging 0.99
R5178:Tbc1d19 UTSW 5 54,046,667 (GRCm39) missense possibly damaging 0.84
R5214:Tbc1d19 UTSW 5 54,007,183 (GRCm39) missense probably benign 0.00
R6265:Tbc1d19 UTSW 5 53,995,266 (GRCm39) missense probably benign 0.06
R6372:Tbc1d19 UTSW 5 54,014,252 (GRCm39) missense possibly damaging 0.55
R6494:Tbc1d19 UTSW 5 53,986,725 (GRCm39) missense probably benign 0.13
R6495:Tbc1d19 UTSW 5 54,046,555 (GRCm39) splice site probably null
R6612:Tbc1d19 UTSW 5 53,967,187 (GRCm39) missense possibly damaging 0.88
R6787:Tbc1d19 UTSW 5 53,992,591 (GRCm39) splice site probably null
R6965:Tbc1d19 UTSW 5 54,014,266 (GRCm39) critical splice donor site probably null
R7275:Tbc1d19 UTSW 5 54,029,618 (GRCm39) missense probably damaging 1.00
R7642:Tbc1d19 UTSW 5 54,014,260 (GRCm39) missense probably damaging 0.98
R7655:Tbc1d19 UTSW 5 54,054,377 (GRCm39) missense probably damaging 1.00
R8314:Tbc1d19 UTSW 5 54,054,389 (GRCm39) missense probably damaging 1.00
R8479:Tbc1d19 UTSW 5 54,041,031 (GRCm39) missense possibly damaging 0.83
X0026:Tbc1d19 UTSW 5 53,992,589 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- GCCTCTGACATTCTATAGCTTTTAGG -3'
(R):5'- GGAACGTGTTTTCTAAACCTGCTC -3'

Sequencing Primer
(F):5'- GCTTTTAGGAAATAAGGAGTCTT -3'
(R):5'- TGCTCAATCTATTATGTTCATGCAC -3'
Posted On 2019-11-12