Incidental Mutation 'R2917:Dnaja1'
ID 254899
Institutional Source Beutler Lab
Gene Symbol Dnaja1
Ensembl Gene ENSMUSG00000028410
Gene Name DnaJ heat shock protein family (Hsp40) member A1
Synonyms Hsj2, Nedd7
Accession Numbers
Essential gene? Probably essential (E-score: 0.831) question?
Stock # R2917 (G1)
Quality Score 222
Status Not validated
Chromosome 4
Chromosomal Location 40722468-40734965 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 40724052 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 71 (A71V)
Ref Sequence ENSEMBL: ENSMUSP00000129730 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030118] [ENSMUST00000125442] [ENSMUST00000137246] [ENSMUST00000164233] [ENSMUST00000149794]
AlphaFold P63037
Predicted Effect possibly damaging
Transcript: ENSMUST00000030118
AA Change: A71V

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000030118
Gene: ENSMUSG00000028410
AA Change: A71V

DomainStartEndE-ValueType
DnaJ 5 60 4.2e-30 SMART
low complexity region 66 82 N/A INTRINSIC
low complexity region 93 104 N/A INTRINSIC
Pfam:DnaJ_CXXCXGXG 134 200 5.7e-16 PFAM
Pfam:CTDII 257 340 1.5e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083518
Predicted Effect probably benign
Transcript: ENSMUST00000125442
AA Change: A71V

PolyPhen 2 Score 0.289 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000116601
Gene: ENSMUSG00000028410
AA Change: A71V

DomainStartEndE-ValueType
DnaJ 5 60 4.2e-30 SMART
low complexity region 66 82 N/A INTRINSIC
low complexity region 93 104 N/A INTRINSIC
Pfam:DnaJ_CXXCXGXG 134 200 1.8e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126020
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129204
Predicted Effect probably benign
Transcript: ENSMUST00000137246
AA Change: A71V

PolyPhen 2 Score 0.289 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000118294
Gene: ENSMUSG00000028410
AA Change: A71V

DomainStartEndE-ValueType
DnaJ 5 60 4.2e-30 SMART
low complexity region 66 82 N/A INTRINSIC
low complexity region 93 104 N/A INTRINSIC
Pfam:DnaJ_CXXCXGXG 134 200 3.2e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137476
Predicted Effect possibly damaging
Transcript: ENSMUST00000164233
AA Change: A71V

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000129730
Gene: ENSMUSG00000028410
AA Change: A71V

DomainStartEndE-ValueType
DnaJ 5 60 4.2e-30 SMART
low complexity region 66 82 N/A INTRINSIC
low complexity region 93 104 N/A INTRINSIC
Pfam:DnaJ_C 107 329 5.1e-35 PFAM
Pfam:DnaJ_CXXCXGXG 134 200 6e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148976
Predicted Effect possibly damaging
Transcript: ENSMUST00000149794
AA Change: A71V

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000121461
Gene: ENSMUSG00000028410
AA Change: A71V

DomainStartEndE-ValueType
DnaJ 5 60 4.2e-30 SMART
low complexity region 66 82 N/A INTRINSIC
low complexity region 93 104 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181475
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139406
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is a member of the DnaJ family, whose members act as cochaperones of heat shock protein 70. Heat shock proteins facilitate protein folding, trafficking, prevention of aggregation, and proteolytic degradation. Members of this family are characterized by a highly conserved N-terminal J domain, a glycine/phenylalanine-rich region, four CxxCxGxG zinc finger repeats, and a C-terminal substrate-binding domain. The J domain mediates the interaction with heat shock protein 70 to recruit substrates and regulate ATP hydrolysis activity. Mice deficient for this gene display reduced levels of activation‐induced deaminase, an enzyme that deaminates deoxycytidine at the immunoglobulin genes during immune responses. In addition, mice lacking this gene exhibit severe defects in spermatogenesis. Several pseudogenes of this gene are found on other chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
PHENOTYPE: Male mice homozygous for a knock-out allele exhibit decreased postnatal growth and reduced fertility with severe defects in late stages of spermatogenesis that involve aberrant androgen receptor signaling in Sertoli cells and disruption of Sertoli-germ cell adherens junctions. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg3 T A 17: 57,192,141 (GRCm39) V568E probably damaging Het
Ap3m2 A G 8: 23,289,815 (GRCm39) V96A probably benign Het
Bglap3 G C 3: 88,276,819 (GRCm39) probably benign Het
Brd7 A G 8: 89,069,408 (GRCm39) I429T probably damaging Het
Cacna1h A C 17: 25,614,426 (GRCm39) L230R probably damaging Het
Camta2 A G 11: 70,571,787 (GRCm39) F479S probably damaging Het
Cmya5 A T 13: 93,227,572 (GRCm39) Y2505* probably null Het
Colgalt2 T A 1: 152,347,495 (GRCm39) V143D probably damaging Het
Gpr33 A G 12: 52,070,379 (GRCm39) V220A possibly damaging Het
Hsph1 A T 5: 149,554,251 (GRCm39) L168* probably null Het
Lig4 T A 8: 10,021,596 (GRCm39) E728V possibly damaging Het
Mrps23 T C 11: 88,100,743 (GRCm39) S75P probably damaging Het
Or2aa1 T C 11: 59,480,265 (GRCm39) T217A probably benign Het
Or5af2 A G 11: 58,708,314 (GRCm39) N160S probably damaging Het
Prss50 G T 9: 110,691,613 (GRCm39) G306C probably null Het
Rnf149 A T 1: 39,591,564 (GRCm39) S392T probably benign Het
Scn8a T A 15: 100,937,613 (GRCm39) F1661I probably damaging Het
Slc12a8 T A 16: 33,371,296 (GRCm39) I144N probably damaging Het
Stxbp5l A T 16: 37,021,004 (GRCm39) L630* probably null Het
Tmem131l G A 3: 83,844,887 (GRCm39) R441* probably null Het
Trim63 T C 4: 134,050,462 (GRCm39) Y249H probably damaging Het
Vmn2r125 T G 4: 156,703,564 (GRCm39) L314R probably benign Het
Vwf A G 6: 125,585,106 (GRCm39) N663D probably benign Het
Other mutations in Dnaja1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01120:Dnaja1 APN 4 40,730,248 (GRCm39) missense probably damaging 1.00
R0520:Dnaja1 UTSW 4 40,728,072 (GRCm39) missense probably benign
R2186:Dnaja1 UTSW 4 40,732,853 (GRCm39) missense probably benign 0.04
R2918:Dnaja1 UTSW 4 40,724,052 (GRCm39) missense possibly damaging 0.67
R5464:Dnaja1 UTSW 4 40,724,133 (GRCm39) missense probably benign 0.00
R6083:Dnaja1 UTSW 4 40,731,713 (GRCm39) missense probably benign 0.10
R7424:Dnaja1 UTSW 4 40,730,244 (GRCm39) missense probably benign 0.20
R7664:Dnaja1 UTSW 4 40,724,090 (GRCm39) missense probably benign 0.03
R9263:Dnaja1 UTSW 4 40,724,133 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TTGGCCTTGAAGTACCACCC -3'
(R):5'- CCAACGTGTAAACAAGCATTTG -3'

Sequencing Primer
(F):5'- GGCCTTGAAGTACCACCCTGATAAG -3'
(R):5'- TTCTAGCTGCAGGTAAGC -3'
Posted On 2014-12-29