Incidental Mutation 'R2186:Dnaja1'
ID 324779
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 040188-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.831) question?
Stock # R2186 (G1)
Quality Score 70
Status Validated
Chromosome 4
Chromosomal Location 40722468-40734965 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 40732853 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 367 (D367E)
Ref Sequence ENSEMBL: ENSMUSP00000129730 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030117] [ENSMUST00000030118] [ENSMUST00000125442] [ENSMUST00000137246] [ENSMUST00000164233]
AlphaFold P63037
Predicted Effect probably benign
Transcript: ENSMUST00000030117
SMART Domains Protein: ENSMUSP00000030117
Gene: ENSMUSG00000028409

DomainStartEndE-ValueType
LisH 6 38 9.95e-7 SMART
CTLH 40 92 2.32e-7 SMART
WD40 202 242 9.02e-7 SMART
WD40 253 292 3.81e-5 SMART
WD40 295 335 5.26e-8 SMART
WD40 338 377 4.4e-10 SMART
WD40 380 426 1.03e1 SMART
WD40 428 470 2.97e0 SMART
WD40 473 512 9.52e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000030118
AA Change: D367E

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000030118
Gene: ENSMUSG00000028410
AA Change: D367E

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 benign
Transcript: ENSMUST00000137246
SMART Domains Protein: ENSMUSP00000118294
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 3.2e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137476
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148976
Predicted Effect probably benign
Transcript: ENSMUST00000164233
AA Change: D367E

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000129730
Gene: ENSMUSG00000028410
AA Change: D367E

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
Meta Mutation Damage Score 0.1036 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (51/51)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310033P09Rik A G 11: 59,099,340 (GRCm39) N29S probably damaging Het
Ap1b1 T C 11: 4,965,737 (GRCm39) V92A possibly damaging Het
Asgr1 G A 11: 69,947,075 (GRCm39) R66Q probably benign Het
Atp8b4 T A 2: 126,200,780 (GRCm39) Q796L probably damaging Het
Camk4 A C 18: 33,315,394 (GRCm39) D307A probably damaging Het
Catsperb T A 12: 101,447,041 (GRCm39) I223K probably benign Het
Ccdc80 A G 16: 44,938,468 (GRCm39) Y725C probably damaging Het
Cep164 T A 9: 45,679,876 (GRCm39) Q1119L probably damaging Het
Cep85l G A 10: 53,224,714 (GRCm39) P292S probably damaging Het
Cfap53 A G 18: 74,462,576 (GRCm39) probably null Het
Cilk1 C T 9: 78,038,769 (GRCm39) T6M probably benign Het
Cts8 C A 13: 61,399,545 (GRCm39) C138F probably damaging Het
Dis3l C A 9: 64,246,894 (GRCm39) E54* probably null Het
Duoxa2 T C 2: 122,129,655 (GRCm39) I45T probably damaging Het
EU599041 C T 7: 42,875,333 (GRCm39) noncoding transcript Het
Exoc5 T C 14: 49,252,936 (GRCm39) M561V probably benign Het
Fam184a T C 10: 53,514,290 (GRCm39) I296V probably damaging Het
Fbxl18 C T 5: 142,864,516 (GRCm39) V686M probably damaging Het
Fryl A G 5: 73,222,318 (GRCm39) S2088P probably damaging Het
Fus G A 7: 127,584,706 (GRCm39) probably benign Het
Gpr183 T A 14: 122,191,727 (GRCm39) I265L probably benign Het
Herc1 T G 9: 66,347,183 (GRCm39) L2013V probably benign Het
Iqca1 T C 1: 90,009,066 (GRCm39) K430R probably benign Het
Iqca1l C T 5: 24,759,524 (GRCm39) G82E probably damaging Het
Itpripl2 A G 7: 118,090,500 (GRCm39) C20R probably damaging Het
Kmt2c C A 5: 25,492,110 (GRCm39) C852F probably damaging Het
Lamb1 A T 12: 31,368,466 (GRCm39) K1199* probably null Het
Lrba A G 3: 86,211,643 (GRCm39) Y421C probably damaging Het
Lrig2 A G 3: 104,375,914 (GRCm39) L96P probably benign Het
Mcc A G 18: 44,945,145 (GRCm39) F29S possibly damaging Het
Mlh1 T C 9: 111,087,634 (GRCm39) probably benign Het
Pals1 T C 12: 78,866,145 (GRCm39) probably benign Het
Rbm33 A G 5: 28,599,228 (GRCm39) T867A unknown Het
Sdk1 T A 5: 142,032,047 (GRCm39) S1041T probably benign Het
Serpinb2 A G 1: 107,451,694 (GRCm39) probably null Het
Serpinb9d A G 13: 33,387,030 (GRCm39) N366S possibly damaging Het
Sf3b1 A G 1: 55,046,792 (GRCm39) S251P probably benign Het
Slc45a1 T C 4: 150,722,708 (GRCm39) Y392C probably benign Het
Tlr4 T A 4: 66,758,220 (GRCm39) C338S possibly damaging Het
Trio A G 15: 27,824,061 (GRCm39) probably null Het
Vnn1 A T 10: 23,773,299 (GRCm39) I109L probably benign Het
Wnk1 A G 6: 119,925,528 (GRCm39) V1312A probably benign Het
Zbed6 A G 1: 133,585,817 (GRCm39) S507P probably damaging Het
Zfp28 A G 7: 6,397,497 (GRCm39) H644R probably damaging Het
Zfp286 A G 11: 62,671,287 (GRCm39) V262A probably damaging Het
Zfp292 A T 4: 34,807,962 (GRCm39) M1694K 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
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
Predicted Primers PCR Primer
(F):5'- GCCAGATTTTGCAAGGTAGAGC -3'
(R):5'- TCATACATACAGGGCAAAGTCAG -3'

Sequencing Primer
(F):5'- CCAGATTTTGCAAGGTAGAGCTAAAG -3'
(R):5'- GGGCAAAGTCAGAGCTTTTATATTTG -3'
Posted On 2015-06-29