Incidental Mutation 'V7583:Tprkb'
ID 152648
Institutional Source Beutler Lab
Gene Symbol Tprkb
Ensembl Gene ENSMUSG00000054226
Gene Name Tp53rk binding protein
Synonyms 1810034M08Rik, DRWMS1, 0610033G21Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.190) question?
Stock # V7583 () of strain stinger
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 85911865-85930284 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 85928782 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 150 (K150E)
Ref Sequence ENSEMBL: ENSMUSP00000144160 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067137] [ENSMUST00000089570] [ENSMUST00000113751] [ENSMUST00000113752] [ENSMUST00000113753] [ENSMUST00000149026] [ENSMUST00000200680] [ENSMUST00000201939] [ENSMUST00000202803]
AlphaFold Q8QZZ7
Predicted Effect probably damaging
Transcript: ENSMUST00000067137
AA Change: K150E

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000063927
Gene: ENSMUSG00000054226
AA Change: K150E

DomainStartEndE-ValueType
Pfam:CGI-121 20 172 1.2e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000089570
SMART Domains Protein: ENSMUSP00000086998
Gene: ENSMUSG00000054226

DomainStartEndE-ValueType
Pfam:CGI-121 20 150 8.6e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113751
SMART Domains Protein: ENSMUSP00000109380
Gene: ENSMUSG00000054226

DomainStartEndE-ValueType
Pfam:CGI-121 20 91 1.2e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113752
AA Change: K150E

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000109381
Gene: ENSMUSG00000054226
AA Change: K150E

DomainStartEndE-ValueType
Pfam:CGI-121 20 172 1.3e-47 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113753
AA Change: K150E

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000109382
Gene: ENSMUSG00000054226
AA Change: K150E

DomainStartEndE-ValueType
Pfam:CGI-121 20 172 1.2e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000149026
SMART Domains Protein: ENSMUSP00000117259
Gene: ENSMUSG00000054226

DomainStartEndE-ValueType
Pfam:CGI-121 20 132 1.4e-36 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150249
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162660
SMART Domains Protein: ENSMUSP00000124315
Gene: ENSMUSG00000089634

DomainStartEndE-ValueType
low complexity region 46 66 N/A INTRINSIC
Pfam:Acetyltransf_10 84 203 4.6e-11 PFAM
Pfam:Acetyltransf_4 87 214 2.8e-8 PFAM
Pfam:Acetyltransf_7 115 205 1.7e-12 PFAM
Pfam:Acetyltransf_1 122 204 1.5e-13 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000200680
AA Change: K150E

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000144160
Gene: ENSMUSG00000054226
AA Change: K150E

DomainStartEndE-ValueType
Pfam:CGI-121 20 172 1.3e-47 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201217
Predicted Effect probably benign
Transcript: ENSMUST00000201939
SMART Domains Protein: ENSMUSP00000144588
Gene: ENSMUSG00000054226

DomainStartEndE-ValueType
Pfam:CGI-121 20 110 9.4e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000202803
SMART Domains Protein: ENSMUSP00000144660
Gene: ENSMUSG00000054226

DomainStartEndE-ValueType
Pfam:CGI-121 20 149 1.6e-40 PFAM
Meta Mutation Damage Score 0.5269 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530002B09Rik A T 4: 122,701,257 H102L possibly damaging Het
Atp6v1h A G 1: 5,124,443 T282A possibly damaging Het
Cdc42bpb C T 12: 111,296,391 G1501S probably benign Het
D630003M21Rik T C 2: 158,201,011 T870A probably benign Het
Dcaf4 C A 12: 83,537,701 probably null Het
Dnajc22 T A 15: 99,101,482 Y183N probably damaging Het
Dpyd C T 3: 118,897,126 Q295* probably null Het
Erv3 T C 2: 131,855,926 H171R possibly damaging Het
Fam221b T C 4: 43,665,865 T249A probably benign Het
Fcgr1 T C 3: 96,284,276 *405W probably null Het
Gm10770 T A 2: 150,179,484 K38* probably null Het
Golga4 A G 9: 118,556,075 E727G possibly damaging Het
Hnrnpab A T 11: 51,602,624 N252K probably benign Het
Ing1 T C 8: 11,561,934 V124A probably damaging Het
Izumo4 A T 10: 80,703,891 T155S probably benign Het
Kcnb2 A G 1: 15,710,091 I396V probably benign Het
Lrp4 C T 2: 91,488,518 S900L possibly damaging Het
Mbd5 A G 2: 49,316,410 D1713G probably damaging Het
Muc6 T G 7: 141,647,613 E808A probably benign Het
Mylk G T 16: 34,995,204 probably null Het
Nbeal2 A G 9: 110,637,937 V670A possibly damaging Het
Nphp3 T C 9: 104,035,894 probably null Het
Numbl T C 7: 27,279,602 S379P probably benign Het
Otop3 T A 11: 115,344,838 L432Q probably damaging Het
Pelp1 T A 11: 70,398,150 T257S probably damaging Het
Pigx T C 16: 32,087,422 D129G probably damaging Het
Pik3cd A C 4: 149,657,319 L390R probably damaging Het
Plekhb1 T C 7: 100,654,618 T112A probably benign Het
Recql4 T C 15: 76,706,169 D705G possibly damaging Het
Ror1 A G 4: 100,440,933 Q501R probably damaging Het
Sirpb1b A G 3: 15,503,183 V366A probably benign Het
Slc30a4 T A 2: 122,689,538 M136L probably benign Het
Spaca1 T C 4: 34,039,311 E192G probably damaging Het
Spata31 C A 13: 64,921,648 P537T probably benign Het
Tnrc6c G A 11: 117,723,326 R770H probably damaging Het
Toe1 A T 4: 116,806,111 N56K probably damaging Het
Trps1 T C 15: 50,831,577 K150E probably damaging Het
Tspyl3 A G 2: 153,225,060 V86A probably benign Het
Vps18 A G 2: 119,297,228 Y844C probably benign Het
Wdr60 A C 12: 116,211,840 S906A possibly damaging Het
Wdr72 T A 9: 74,157,270 I528N probably damaging Het
Zfp292 C T 4: 34,806,783 C2087Y possibly damaging Het
Zfp933 G A 4: 147,826,470 A223V probably damaging Het
Zmynd8 G A 2: 165,812,394 R724* probably null Het
Other mutations in Tprkb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02133:Tprkb APN 6 85927911 missense probably benign 0.00
IGL02981:Tprkb APN 6 85927879 missense probably benign 0.01
IGL03102:Tprkb APN 6 85924418 missense probably benign 0.04
F5770:Tprkb UTSW 6 85928782 missense probably damaging 0.96
R0491:Tprkb UTSW 6 85924464 missense probably benign 0.02
R1456:Tprkb UTSW 6 85924421 missense probably damaging 0.97
R2007:Tprkb UTSW 6 85933048 unclassified probably benign
R2088:Tprkb UTSW 6 85932940 unclassified probably benign
R3960:Tprkb UTSW 6 85928801 missense probably benign 0.02
R6153:Tprkb UTSW 6 85916190 splice site probably null
R7584:Tprkb UTSW 6 85928827 missense probably benign
V7581:Tprkb UTSW 6 85928782 missense probably damaging 0.96
V7582:Tprkb UTSW 6 85928782 missense probably damaging 0.96
X0064:Tprkb UTSW 6 85928800 missense probably benign 0.39
X0064:Tprkb UTSW 6 85928802 missense probably benign
Predicted Primers
Posted On 2014-01-29