Incidental Mutation 'IGL02793:Dnajb13'
ID 359849
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnajb13
Ensembl Gene ENSMUSG00000030708
Gene Name DnaJ heat shock protein family (Hsp40) member B13
Synonyms 1700014P03Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.210) question?
Stock # IGL02793
Quality Score
Status
Chromosome 7
Chromosomal Location 100150923-100164167 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 100156648 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 143 (D143N)
Ref Sequence ENSEMBL: ENSMUSP00000147019 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000154516] [ENSMUST00000207405]
AlphaFold Q80Y75
Predicted Effect unknown
Transcript: ENSMUST00000054923
AA Change: D96N
SMART Domains Protein: ENSMUSP00000059074
Gene: ENSMUSG00000030708
AA Change: D96N

DomainStartEndE-ValueType
DnaJ 3 60 3.52e-23 SMART
Pfam:DnaJ_C 140 299 1.3e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130534
Predicted Effect probably benign
Transcript: ENSMUST00000154516
Predicted Effect probably damaging
Transcript: ENSMUST00000207405
AA Change: D143N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DNAJA13 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins. For background information on the DNAJ family, see 608375.[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T C 2: 69,122,293 (GRCm39) I397V possibly damaging Het
Bco2 A T 9: 50,455,834 (GRCm39) V173E probably damaging Het
Bdnf T C 2: 109,554,196 (GRCm39) V150A probably damaging Het
Cdh15 T A 8: 123,587,721 (GRCm39) V215E probably damaging Het
Col6a2 A T 10: 76,432,144 (GRCm39) I1003N possibly damaging Het
Daam2 A C 17: 49,771,056 (GRCm39) I887S probably damaging Het
Fabp3-ps1 T A 10: 86,567,943 (GRCm39) probably benign Het
Gid4 G A 11: 60,323,256 (GRCm39) R116Q probably benign Het
Hectd2 A G 19: 36,564,821 (GRCm39) E34G probably damaging Het
Hyal6 A T 6: 24,734,378 (GRCm39) K104* probably null Het
Il1b A G 2: 129,209,171 (GRCm39) I153T probably benign Het
Kdm3b A G 18: 34,962,072 (GRCm39) M1499V probably damaging Het
Kntc1 C A 5: 123,916,340 (GRCm39) probably null Het
Lmbr1 A G 5: 29,497,186 (GRCm39) S72P probably damaging Het
Lrrc2 T C 9: 110,808,695 (GRCm39) probably null Het
Map2k5 T C 9: 63,164,321 (GRCm39) I328V probably benign Het
Mphosph9 T A 5: 124,421,800 (GRCm39) probably null Het
Mpp4 C T 1: 59,175,993 (GRCm39) probably null Het
Ndrg3 A G 2: 156,791,952 (GRCm39) probably null Het
Ndufa10 A C 1: 92,397,639 (GRCm39) Y136D probably damaging Het
Or10ak9 A T 4: 118,726,794 (GRCm39) D271V probably damaging Het
Or2b7 T A 13: 21,740,172 (GRCm39) S7C probably damaging Het
Or4a72 T C 2: 89,405,896 (GRCm39) Y58C probably damaging Het
Or8g34 A G 9: 39,372,802 (GRCm39) E22G probably benign Het
Rab18 T C 18: 6,788,474 (GRCm39) probably benign Het
Rad1 T C 15: 10,493,365 (GRCm39) I264T probably benign Het
Rhbdf1 A G 11: 32,163,293 (GRCm39) V393A possibly damaging Het
Rrp12 A G 19: 41,860,005 (GRCm39) L1025P probably damaging Het
Rtca A G 3: 116,286,726 (GRCm39) F302S probably damaging Het
Slc9b1 T A 3: 135,080,167 (GRCm39) probably benign Het
Sspo A T 6: 48,464,828 (GRCm39) probably benign Het
Ssrp1 T A 2: 84,871,264 (GRCm39) I257N probably damaging Het
Sval2 A C 6: 41,838,795 (GRCm39) Y11S probably benign Het
Tcl1b2 T C 12: 105,120,358 (GRCm39) *118Q probably null Het
Thsd7b A G 1: 129,879,130 (GRCm39) Y989C probably damaging Het
Tlr4 A C 4: 66,757,681 (GRCm39) H158P probably damaging Het
Vmn2r42 T C 7: 8,197,852 (GRCm39) T256A probably benign Het
Xdh T C 17: 74,207,576 (GRCm39) E927G probably damaging Het
Yap1 T C 9: 7,973,907 (GRCm39) N178S probably benign Het
Other mutations in Dnajb13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01144:Dnajb13 APN 7 100,152,431 (GRCm39) missense possibly damaging 0.88
R0346:Dnajb13 UTSW 7 100,153,132 (GRCm39) missense probably damaging 1.00
R0620:Dnajb13 UTSW 7 100,152,456 (GRCm39) missense possibly damaging 0.91
R1502:Dnajb13 UTSW 7 100,156,668 (GRCm39) missense probably benign 0.27
R1998:Dnajb13 UTSW 7 100,153,817 (GRCm39) missense probably benign
R4702:Dnajb13 UTSW 7 100,153,748 (GRCm39) missense probably benign 0.00
R4794:Dnajb13 UTSW 7 100,153,199 (GRCm39) missense probably damaging 1.00
R4962:Dnajb13 UTSW 7 100,156,707 (GRCm39) missense probably benign 0.08
R5063:Dnajb13 UTSW 7 100,160,030 (GRCm39) missense probably damaging 0.99
R5633:Dnajb13 UTSW 7 100,156,626 (GRCm39) missense probably benign 0.07
R6970:Dnajb13 UTSW 7 100,156,629 (GRCm39) missense probably damaging 0.97
R7634:Dnajb13 UTSW 7 100,152,393 (GRCm39) missense probably benign 0.00
R9583:Dnajb13 UTSW 7 100,152,446 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18