Incidental Mutation 'R5464:Dnaja1'
ID 433147
Institutional Source Beutler Lab
Gene Symbol Dnaja1
Ensembl Gene ENSMUSG00000028410
Gene Name DnaJ heat shock protein family (Hsp40) member A1
Synonyms Hsj2, Nedd7
MMRRC Submission 042850-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.832) question?
Stock # R5464 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 40722468-40734965 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 40724133 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 98 (M98K)
Ref Sequence ENSEMBL: ENSMUSP00000118294 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030118] [ENSMUST00000125442] [ENSMUST00000137246] [ENSMUST00000149794] [ENSMUST00000164233]
AlphaFold P63037
Predicted Effect probably benign
Transcript: ENSMUST00000030118
AA Change: M98K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000030118
Gene: ENSMUSG00000028410
AA Change: M98K

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: M98K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000116601
Gene: ENSMUSG00000028410
AA Change: M98K

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: M98K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000118294
Gene: ENSMUSG00000028410
AA Change: M98K

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 noncoding transcript
Transcript: ENSMUST00000148976
Predicted Effect probably benign
Transcript: ENSMUST00000149794
AA Change: M98K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000121461
Gene: ENSMUSG00000028410
AA Change: M98K

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 probably benign
Transcript: ENSMUST00000164233
AA Change: M98K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000129730
Gene: ENSMUSG00000028410
AA Change: M98K

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: ENSMUST00000139406
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181475
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik G A 16: 4,682,227 (GRCm39) G180E probably damaging Het
Acsl1 T A 8: 46,958,775 (GRCm39) D95E probably benign Het
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Adamts16 T A 13: 70,909,868 (GRCm39) H895L probably benign Het
Alox12e T C 11: 70,208,505 (GRCm39) Y483C probably damaging Het
Atp13a2 T A 4: 140,733,381 (GRCm39) F952I probably damaging Het
Crot T G 5: 9,033,690 (GRCm39) probably null Het
Eps8 C T 6: 137,504,473 (GRCm39) G87R probably damaging Het
Flg2 C A 3: 93,109,277 (GRCm39) T435K possibly damaging Het
Gpatch4 T C 3: 87,962,062 (GRCm39) probably null Het
Heatr1 T A 13: 12,448,524 (GRCm39) M1795K probably benign Het
Ift52 T C 2: 162,871,735 (GRCm39) V189A probably benign Het
Kif21a T A 15: 90,878,058 (GRCm39) D250V probably damaging Het
Lrrc66 T C 5: 73,765,622 (GRCm39) T474A probably benign Het
Mcub T C 3: 129,709,365 (GRCm39) E316G probably benign Het
Mettl15 C T 2: 109,021,967 (GRCm39) V113I probably benign Het
Mroh8 T A 2: 157,063,150 (GRCm39) I824F probably damaging Het
Mrpl19 A G 6: 81,938,992 (GRCm39) M270T probably damaging Het
Naa12 C T 18: 80,255,138 (GRCm39) A144V probably damaging Het
Or10d4 A T 9: 39,581,066 (GRCm39) T238S probably damaging Het
Or4ac1-ps1 T C 2: 88,370,599 (GRCm39) Y58C probably null Het
Or51a25 A G 7: 102,373,124 (GRCm39) V191A possibly damaging Het
Or51a39 T C 7: 102,362,889 (GRCm39) T244A probably benign Het
Or51a43 C A 7: 103,717,674 (GRCm39) R188L possibly damaging Het
Or51f5 A G 7: 102,424,640 (GRCm39) K303R probably benign Het
Or52a24 T A 7: 103,381,396 (GRCm39) W88R probably damaging Het
Or5ak23 AAGTCTGGAGTC AAGTC 2: 85,245,057 (GRCm39) probably null Het
Or6x1 T C 9: 40,099,080 (GRCm39) I223T probably damaging Het
Pacs1 T C 19: 5,197,235 (GRCm39) M430V probably benign Het
Piezo2 A G 18: 63,278,176 (GRCm39) S243P probably damaging Het
Ppp1r36 A T 12: 76,474,852 (GRCm39) probably null Het
Prdm16 T A 4: 154,430,601 (GRCm39) probably null Het
Prss36 A T 7: 127,533,405 (GRCm39) W97R probably damaging Het
Psmg4 A T 13: 34,362,047 (GRCm39) I112F probably damaging Het
Ptpru C T 4: 131,499,868 (GRCm39) G1259R probably damaging Het
Rsph4a T C 10: 33,785,337 (GRCm39) I416T possibly damaging Het
Scn2a C T 2: 65,532,100 (GRCm39) R571C probably damaging Het
Selenbp1 A G 3: 94,851,727 (GRCm39) M423V probably benign Het
Serpina3i G A 12: 104,234,751 (GRCm39) A361T possibly damaging Het
Serpinb3c A T 1: 107,199,434 (GRCm39) D362E probably damaging Het
Sf3a3 T C 4: 124,622,033 (GRCm39) probably null Het
Sgcg A G 14: 61,474,304 (GRCm39) V113A possibly damaging Het
Slc3a2 T C 19: 8,691,008 (GRCm39) K74R probably damaging Het
Smco1 T A 16: 32,092,694 (GRCm39) W122R probably damaging Het
Snx19 A G 9: 30,339,269 (GRCm39) K136E possibly damaging Het
Trim32 A G 4: 65,532,625 (GRCm39) N394S probably damaging Het
Uqcrb T C 13: 67,048,889 (GRCm39) D87G probably damaging Het
Wipf3 T C 6: 54,462,308 (GRCm39) S173P possibly damaging Het
Zfp473 T C 7: 44,382,062 (GRCm39) E756G probably damaging 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
R2917:Dnaja1 UTSW 4 40,724,052 (GRCm39) missense possibly damaging 0.67
R2918:Dnaja1 UTSW 4 40,724,052 (GRCm39) missense possibly damaging 0.67
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'- CCGTAGCTGTGCTTTGTAACAG -3'
(R):5'- CCACTGTTTGGGAATCTATGGG -3'

Sequencing Primer
(F):5'- ATGGGATGTCCTTTTCTGAAACAG -3'
(R):5'- AATCTATGGGGTTAGTTATACCTGC -3'
Posted On 2016-10-06