Incidental Mutation 'IGL01120:Dnaja1'
ID 50932
Institutional Source Australian Phenomics Network (link to record)
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: 0.832) question?
Stock # IGL01120
Quality Score
Status
Chromosome 4
Chromosomal Location 40722468-40734965 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 40730248 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 240 (I240N)
Ref Sequence ENSEMBL: ENSMUSP00000129730 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030118] [ENSMUST00000125442] [ENSMUST00000137246] [ENSMUST00000164233] [ENSMUST00000149794]
AlphaFold P63037
Predicted Effect probably damaging
Transcript: ENSMUST00000030118
AA Change: I240N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030118
Gene: ENSMUSG00000028410
AA Change: I240N

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 probably benign
Transcript: ENSMUST00000125442
SMART Domains Protein: ENSMUSP00000116601
Gene: ENSMUSG00000028410

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: ENSMUST00000129204
Predicted Effect probably damaging
Transcript: ENSMUST00000137246
AA Change: I240N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000118294
Gene: ENSMUSG00000028410
AA Change: I240N

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 damaging
Transcript: ENSMUST00000164233
AA Change: I240N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000129730
Gene: ENSMUSG00000028410
AA Change: I240N

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 probably benign
Transcript: ENSMUST00000149794
SMART Domains Protein: ENSMUSP00000121461
Gene: ENSMUSG00000028410

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
Coding Region Coverage
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd11 T A 5: 135,040,329 (GRCm39) probably null Het
Armcx5 T C X: 134,647,112 (GRCm39) I396T probably damaging Het
Atm T C 9: 53,372,422 (GRCm39) probably null Het
Atp6v1c2 C T 12: 17,358,294 (GRCm39) E88K probably damaging Het
Caskin1 A G 17: 24,724,343 (GRCm39) T1044A possibly damaging Het
Cyp3a59 T A 5: 146,039,671 (GRCm39) S315T probably damaging Het
Dnttip2 C T 3: 122,072,386 (GRCm39) probably benign Het
Elavl2 A T 4: 91,152,309 (GRCm39) M136K probably damaging Het
Eml5 C T 12: 98,810,278 (GRCm39) V893I probably benign Het
Fbxw4 G T 19: 45,628,955 (GRCm39) A2E probably benign Het
Flg2 T G 3: 93,108,475 (GRCm39) S168A probably damaging Het
Fndc3a G A 14: 72,794,102 (GRCm39) T857I probably benign Het
Gria1 A G 11: 57,208,495 (GRCm39) K797E probably damaging Het
Herc1 T C 9: 66,336,162 (GRCm39) F1569S probably benign Het
Kash5 G T 7: 44,833,622 (GRCm39) S560Y probably damaging Het
Lrrc45 T C 11: 120,610,836 (GRCm39) V524A probably benign Het
Myo19 T C 11: 84,798,104 (GRCm39) L708P probably damaging Het
Nup107 A G 10: 117,606,146 (GRCm39) probably benign Het
Or10ab4 T G 7: 107,654,774 (GRCm39) M195R probably damaging Het
Or52h9 T C 7: 104,202,552 (GRCm39) V142A probably benign Het
Palm A G 10: 79,652,621 (GRCm39) probably benign Het
Phf14 T C 6: 11,962,739 (GRCm39) V462A probably damaging Het
Pkhd1l1 G A 15: 44,368,708 (GRCm39) probably null Het
Pkp3 T A 7: 140,664,095 (GRCm39) L424* probably null Het
Prss29 A G 17: 25,541,107 (GRCm39) K184E probably benign Het
Prss3b A T 6: 41,008,607 (GRCm39) Y236N probably damaging Het
Ptcd1 C T 5: 145,089,053 (GRCm39) probably benign Het
Pth1r T C 9: 110,556,198 (GRCm39) H225R probably damaging Het
Rffl C T 11: 82,696,848 (GRCm39) V332I probably damaging Het
Rsl1 T C 13: 67,325,230 (GRCm39) probably benign Het
Scart2 T C 7: 139,876,472 (GRCm39) L648P probably benign Het
Scn9a T C 2: 66,357,316 (GRCm39) K986R probably benign Het
Slc22a15 A G 3: 101,804,482 (GRCm39) L181P probably damaging Het
Slc34a1 T A 13: 55,556,884 (GRCm39) L241H probably damaging Het
Slc4a4 C A 5: 89,280,238 (GRCm39) H354Q probably damaging Het
Sorcs2 T C 5: 36,178,596 (GRCm39) E1131G probably damaging Het
Ssc4d C A 5: 135,996,817 (GRCm39) D95Y probably damaging Het
Tcte1 A T 17: 45,850,594 (GRCm39) D290V probably damaging Het
Thyn1 T A 9: 26,915,070 (GRCm39) M74K probably benign Het
Tlr4 C T 4: 66,758,662 (GRCm39) T485I probably benign Het
Trem1 A G 17: 48,544,277 (GRCm39) T101A probably benign Het
Ttc17 T C 2: 94,202,141 (GRCm39) E387G probably damaging Het
Vmn2r103 A T 17: 20,013,259 (GRCm39) T127S probably benign Het
Other mutations in Dnaja1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-06-21