Incidental Mutation 'R7634:Dnajb13'
ID 589816
Institutional Source Beutler Lab
Gene Symbol Dnajb13
Ensembl Gene ENSMUSG00000030708
Gene Name DnaJ heat shock protein family (Hsp40) member B13
Synonyms 1700014P03Rik
MMRRC Submission 045693-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.210) question?
Stock # R7634 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 100150923-100164167 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 100152393 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 308 (Q308K)
Ref Sequence ENSEMBL: ENSMUSP00000147019 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000126534] [ENSMUST00000133044] [ENSMUST00000154516] [ENSMUST00000207405] [ENSMUST00000207748]
AlphaFold Q80Y75
Predicted Effect probably damaging
Transcript: ENSMUST00000054923
AA Change: Q247K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000059074
Gene: ENSMUSG00000030708
AA Change: Q247K

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 benign
Transcript: ENSMUST00000207405
AA Change: Q308K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000207748
Meta Mutation Damage Score 0.0733 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (58/58)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadat A T 8: 60,969,102 (GRCm39) M116L probably benign Het
Adam25 A G 8: 41,207,883 (GRCm39) D383G probably benign Het
Adam26b T A 8: 43,974,034 (GRCm39) M323L probably benign Het
Adgrf3 T C 5: 30,407,245 (GRCm39) H227R probably benign Het
Antxr1 G A 6: 87,114,273 (GRCm39) T498I probably benign Het
Arg1 T A 10: 24,791,627 (GRCm39) T285S possibly damaging Het
Arhgdig T C 17: 26,418,365 (GRCm39) D206G probably damaging Het
Asb10 C A 5: 24,745,875 (GRCm39) C17F possibly damaging Het
Atg2b T C 12: 105,618,379 (GRCm39) D891G probably damaging Het
Cacna1h A T 17: 25,611,083 (GRCm39) S572T possibly damaging Het
Cenpj T C 14: 56,780,257 (GRCm39) T985A probably benign Het
Cfap65 G T 1: 74,941,593 (GRCm39) N1780K probably damaging Het
Cyp26c1 T C 19: 37,681,447 (GRCm39) Y417H probably damaging Het
Fam107b T C 2: 3,771,777 (GRCm39) S3P possibly damaging Het
Gm3127 A G 14: 15,425,787 (GRCm39) N64S probably damaging Het
Gm4847 A C 1: 166,460,249 (GRCm39) N412K probably benign Het
Gtf3c3 A T 1: 54,458,800 (GRCm39) probably null Het
Guf1 T C 5: 69,721,887 (GRCm39) S349P probably damaging Het
Hvcn1 A G 5: 122,371,586 (GRCm39) Y42C probably damaging Het
Insm1 A G 2: 146,065,027 (GRCm39) Y281C probably damaging Het
Lrrc71 A G 3: 87,650,281 (GRCm39) I264T probably damaging Het
Lrriq1 T C 10: 103,036,462 (GRCm39) N897S probably damaging Het
Mtmr6 T A 14: 60,533,596 (GRCm39) F375I probably damaging Het
Mtor G C 4: 148,536,807 (GRCm39) S27T possibly damaging Het
Mylk4 T A 13: 32,892,891 (GRCm39) K387N possibly damaging Het
Nadk2 T G 15: 9,092,935 (GRCm39) D247E probably benign Het
Nfya T C 17: 48,699,445 (GRCm39) T213A probably damaging Het
Nlrp1a A G 11: 70,990,354 (GRCm39) V1067A probably benign Het
Nrbp2 C T 15: 75,959,257 (GRCm39) R206Q possibly damaging Het
Oas2 A G 5: 120,871,293 (GRCm39) V722A probably benign Het
Odad4 G A 11: 100,452,731 (GRCm39) probably null Het
Or4c108 G T 2: 88,804,001 (GRCm39) P78Q probably damaging Het
Pcdhb2 G T 18: 37,428,000 (GRCm39) probably benign Het
Pdpr T A 8: 111,852,317 (GRCm39) H561Q probably damaging Het
Plcz1 A G 6: 139,961,853 (GRCm39) F233L probably damaging Het
Ppp1r3d A G 2: 178,055,165 (GRCm39) I279T probably damaging Het
Psg17 A G 7: 18,548,416 (GRCm39) Y452H probably damaging Het
Reg4 T C 3: 98,140,428 (GRCm39) probably null Het
Rint1 A G 5: 24,010,477 (GRCm39) T229A probably benign Het
Robo1 T G 16: 72,839,866 (GRCm39) probably null Het
Slc22a26 A C 19: 7,779,952 (GRCm39) probably null Het
Slc22a7 C T 17: 46,749,156 (GRCm39) A54T probably benign Het
Slc52a3 C A 2: 151,846,534 (GRCm39) T165N possibly damaging Het
Slc7a11 C T 3: 50,378,486 (GRCm39) probably null Het
Smap2 T C 4: 120,873,996 (GRCm39) N18S probably benign Het
Spag6l T C 16: 16,595,278 (GRCm39) E369G probably damaging Het
Tars3 T A 7: 65,325,760 (GRCm39) Y445N probably damaging Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Tmprss7 C T 16: 45,483,637 (GRCm39) G579D probably benign Het
Tpi1 T A 6: 124,789,817 (GRCm39) K109* probably null Het
Ttn T C 2: 76,628,856 (GRCm39) E14466G possibly damaging Het
Usp40 A T 1: 87,890,152 (GRCm39) C903* probably null Het
Vinac1 T A 2: 128,880,192 (GRCm39) D578V Het
Vmn2r104 T A 17: 20,261,971 (GRCm39) L386F possibly damaging Het
Vmn2r54 G A 7: 12,349,630 (GRCm39) P651S probably damaging Het
Wnk4 C A 11: 101,153,721 (GRCm39) T261K probably damaging Het
Wnt2b T C 3: 104,854,432 (GRCm39) Y342C probably damaging Het
Zbtb8b A G 4: 129,326,755 (GRCm39) Y137H probably damaging 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
R9583:Dnajb13 UTSW 7 100,152,446 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAACAGTCTGTGCCTAGGAAGG -3'
(R):5'- ACTGCTGAGTCATCTATGCTCC -3'

Sequencing Primer
(F):5'- CTTCCCATCATAGCTATAGGATAGG -3'
(R):5'- GAGTCATCTATGCTCCTTCCTTTC -3'
Posted On 2019-10-24