Incidental Mutation 'R9583:Dnajb13'
ID 722657
Institutional Source Beutler Lab
Gene Symbol Dnajb13
Ensembl Gene ENSMUSG00000030708
Gene Name DnaJ heat shock protein family (Hsp40) member B13
Synonyms 1700014P03Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.210) question?
Stock # R9583 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 100150923-100164167 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 100152446 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 290 (L290P)
Ref Sequence ENSEMBL: ENSMUSP00000147019 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000126534] [ENSMUST00000133044] [ENSMUST00000154516] [ENSMUST00000207405] [ENSMUST00000207748]
AlphaFold Q80Y75
Predicted Effect
SMART Domains Protein: ENSMUSP00000059074
Gene: ENSMUSG00000030708
AA Change: L229P

DomainStartEndE-ValueType
DnaJ 3 60 3.52e-23 SMART
Pfam:DnaJ_C 140 299 1.3e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126534
SMART Domains Protein: ENSMUSP00000120967
Gene: ENSMUSG00000033685

DomainStartEndE-ValueType
Pfam:Mito_carr 10 111 1.3e-21 PFAM
Pfam:Mito_carr 112 208 2e-27 PFAM
Pfam:Mito_carr 211 302 5.7e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133044
SMART Domains Protein: ENSMUSP00000115598
Gene: ENSMUSG00000033685

DomainStartEndE-ValueType
Pfam:Mito_carr 9 111 2.6e-23 PFAM
Pfam:Mito_carr 112 172 1.1e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154516
Predicted Effect probably damaging
Transcript: ENSMUST00000207405
AA Change: L290P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000207748
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik A T 10: 28,862,092 (GRCm39) I66N probably damaging Het
Adgrg3 A T 8: 95,760,071 (GRCm39) I97F probably benign Het
AI987944 T A 7: 41,023,937 (GRCm39) R350S probably benign Het
Arap3 T C 18: 38,109,096 (GRCm39) T1214A probably damaging Het
Arid5a A G 1: 36,356,739 (GRCm39) E127G possibly damaging Het
Bbx T C 16: 50,044,920 (GRCm39) E547G possibly damaging Het
Ceacam16 T C 7: 19,587,803 (GRCm39) I322V probably damaging Het
Chd2 G T 7: 73,130,230 (GRCm39) N808K probably damaging Het
Copg2 A C 6: 30,787,399 (GRCm39) L615* probably null Het
Cyp21a1 A G 17: 35,022,017 (GRCm39) L221P probably damaging Het
Dnah9 C A 11: 65,856,507 (GRCm39) V2885L probably damaging Het
Eif3e A G 15: 43,128,957 (GRCm39) V221A probably damaging Het
Evc G A 5: 37,473,701 (GRCm39) R511* probably null Het
Far2 C T 6: 148,059,434 (GRCm39) P250S probably damaging Het
Fmo1 T A 1: 162,686,996 (GRCm39) T44S Het
Grid1 A G 14: 35,302,492 (GRCm39) E919G possibly damaging Het
Grip1 G A 10: 119,874,569 (GRCm39) E778K possibly damaging Het
Hoxb2 A G 11: 96,242,725 (GRCm39) E30G probably damaging Het
Il5ra G A 6: 106,689,331 (GRCm39) P75L unknown Het
Il5ra T A 6: 106,721,297 (GRCm39) M1L possibly damaging Het
Inpp4b T C 8: 82,497,555 (GRCm39) probably null Het
Itgb8 T A 12: 119,153,708 (GRCm39) H269L possibly damaging Het
Jrk G A 15: 74,578,403 (GRCm39) A294V probably damaging Het
Knl1 A T 2: 118,887,782 (GRCm39) D2V probably damaging Het
Lrrc71 T C 3: 87,650,258 (GRCm39) I272V possibly damaging Het
Mdn1 T C 4: 32,741,372 (GRCm39) S3825P probably damaging Het
Mex3d C A 10: 80,218,129 (GRCm39) V363L Het
Mfsd13b C A 7: 120,598,134 (GRCm39) H347N possibly damaging Het
Mllt1 G T 17: 57,209,572 (GRCm39) H179Q probably benign Het
Mmp14 A T 14: 54,678,069 (GRCm39) R563S probably benign Het
Ms4a18 T C 19: 10,974,714 (GRCm39) T326A probably benign Het
Muc16 T C 9: 18,549,973 (GRCm39) D5440G probably benign Het
Muc2 A T 7: 141,300,559 (GRCm39) E294V Het
Myh7b A G 2: 155,459,641 (GRCm39) N241S probably damaging Het
Myo1b T C 1: 51,796,404 (GRCm39) I1007V possibly damaging Het
Or10j5 T C 1: 172,784,893 (GRCm39) F177S probably damaging Het
Or4a77 A G 2: 89,487,005 (GRCm39) V260A possibly damaging Het
Or8g33 T A 9: 39,337,851 (GRCm39) D172V possibly damaging Het
Pan2 T C 10: 128,140,135 (GRCm39) S19P probably benign Het
Pkn3 A G 2: 29,976,723 (GRCm39) D588G probably null Het
Pkp4 A G 2: 59,178,104 (GRCm39) N988D possibly damaging Het
Plxdc1 T C 11: 97,824,844 (GRCm39) D344G probably damaging Het
Plxna4 C T 6: 32,192,169 (GRCm39) R807H possibly damaging Het
Potefam3b T A 8: 21,174,962 (GRCm39) F285I possibly damaging Het
Prdm15 A T 16: 97,623,142 (GRCm39) S237T probably benign Het
Sanbr A C 11: 23,531,642 (GRCm39) M661R possibly damaging Het
Slc9a2 G A 1: 40,721,061 (GRCm39) V10M probably benign Het
Sytl2 T C 7: 90,024,800 (GRCm39) S263P probably benign Het
Taf7l2 A T 10: 115,948,931 (GRCm39) D198E probably benign Het
Trrap G A 5: 144,777,330 (GRCm39) V3043M probably damaging Het
Tshz3 C T 7: 36,470,492 (GRCm39) T827I possibly damaging Het
Ttll1 T C 15: 83,384,226 (GRCm39) T134A possibly damaging Het
Vmn1r196 G T 13: 22,477,920 (GRCm39) M186I probably damaging Het
Vrk2 C T 11: 26,433,157 (GRCm39) probably null Het
Zfp59 T A 7: 27,554,483 (GRCm39) V645E probably benign Het
Other mutations in Dnajb13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01144:Dnajb13 APN 7 100,152,431 (GRCm39) missense possibly damaging 0.88
IGL02793:Dnajb13 APN 7 100,156,648 (GRCm39) missense probably damaging 0.99
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
Predicted Primers PCR Primer
(F):5'- ACTCACTTCCCATCATAGCTATAGG -3'
(R):5'- AAGAATGGCTGAGGCTCCTG -3'

Sequencing Primer
(F):5'- ATGTCAGCCTAAGGTCTCACG -3'
(R):5'- CTGAGGCTCCTGCAAGTGTG -3'
Posted On 2022-08-09