Incidental Mutation 'R4858:Dnajb2'
ID 430250
Institutional Source Beutler Lab
Gene Symbol Dnajb2
Ensembl Gene ENSMUSG00000026203
Gene Name DnaJ heat shock protein family (Hsp40) member B2
Synonyms mDj8, Dnajb10, 2700059H22Rik
MMRRC Submission 042469-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4858 (G1)
Quality Score 32
Status Validated
Chromosome 1
Chromosomal Location 75213050-75222336 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 75220198 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 221 (T221I)
Ref Sequence ENSEMBL: ENSMUSP00000140637 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027404] [ENSMUST00000055223] [ENSMUST00000082158] [ENSMUST00000185403] [ENSMUST00000185654] [ENSMUST00000187058] [ENSMUST00000188346] [ENSMUST00000188931] [ENSMUST00000188290]
AlphaFold Q9QYI5
Predicted Effect probably benign
Transcript: ENSMUST00000027404
SMART Domains Protein: ENSMUSP00000027404
Gene: ENSMUSG00000026204

DomainStartEndE-ValueType
signal peptide 1 37 N/A INTRINSIC
RESP18 63 164 1.5e-51 SMART
low complexity region 174 201 N/A INTRINSIC
low complexity region 217 235 N/A INTRINSIC
low complexity region 360 368 N/A INTRINSIC
Pfam:Receptor_IA-2 471 559 7e-33 PFAM
transmembrane domain 579 601 N/A INTRINSIC
low complexity region 650 679 N/A INTRINSIC
PTPc 710 973 1.2e-112 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000055223
AA Change: T221I

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000052520
Gene: ENSMUSG00000026203
AA Change: T221I

DomainStartEndE-ValueType
DnaJ 2 61 1.46e-29 SMART
low complexity region 67 78 N/A INTRINSIC
low complexity region 119 148 N/A INTRINSIC
UIM 189 208 3.05e1 SMART
UIM 232 251 5.19e-2 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000082158
AA Change: T239I

PolyPhen 2 Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000080796
Gene: ENSMUSG00000026203
AA Change: T239I

DomainStartEndE-ValueType
DnaJ 2 61 2.1e-30 SMART
low complexity region 85 96 N/A INTRINSIC
low complexity region 137 166 N/A INTRINSIC
UIM 207 226 3.05e1 SMART
UIM 250 269 5.19e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000185403
SMART Domains Protein: ENSMUSP00000139982
Gene: ENSMUSG00000026203

DomainStartEndE-ValueType
DnaJ 2 61 2.8e-32 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000185654
SMART Domains Protein: ENSMUSP00000140456
Gene: ENSMUSG00000026203

DomainStartEndE-ValueType
DnaJ 2 61 1.3e-32 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000187058
AA Change: T221I

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000140637
Gene: ENSMUSG00000026203
AA Change: T221I

DomainStartEndE-ValueType
DnaJ 2 61 1.46e-29 SMART
low complexity region 67 78 N/A INTRINSIC
low complexity region 119 148 N/A INTRINSIC
UIM 189 208 3.05e1 SMART
UIM 232 251 5.19e-2 SMART
Predicted Effect unknown
Transcript: ENSMUST00000190445
AA Change: T56I
Predicted Effect possibly damaging
Transcript: ENSMUST00000188346
AA Change: T239I

PolyPhen 2 Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000140588
Gene: ENSMUSG00000026203
AA Change: T239I

DomainStartEndE-ValueType
DnaJ 2 61 2.1e-30 SMART
low complexity region 85 96 N/A INTRINSIC
low complexity region 137 166 N/A INTRINSIC
UIM 207 226 3.05e1 SMART
UIM 250 269 5.19e-2 SMART
Predicted Effect unknown
Transcript: ENSMUST00000188931
AA Change: T239I
SMART Domains Protein: ENSMUSP00000140566
Gene: ENSMUSG00000026203
AA Change: T239I

DomainStartEndE-ValueType
DnaJ 2 61 2.1e-30 SMART
low complexity region 85 96 N/A INTRINSIC
low complexity region 137 166 N/A INTRINSIC
UIM 207 226 3.05e1 SMART
UIM 250 269 5.19e-2 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000188290
AA Change: T239I

PolyPhen 2 Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000140634
Gene: ENSMUSG00000026203
AA Change: T239I

DomainStartEndE-ValueType
DnaJ 2 61 2.1e-30 SMART
low complexity region 85 96 N/A INTRINSIC
low complexity region 137 166 N/A INTRINSIC
UIM 207 226 3.05e1 SMART
UIM 250 269 5.19e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190379
Meta Mutation Damage Score 0.0974 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.5%
Validation Efficiency 94% (103/109)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is almost exclusively expressed in the brain, mainly in the neuronal layers. It encodes a protein that shows sequence similarity to bacterial DnaJ protein and the yeast homologs. In bacteria, this protein is implicated in protein folding and protein complex dissociation. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2011]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb T C 10: 10,225,321 (GRCm39) Y1415C probably damaging Het
Adgrf1 T C 17: 43,614,563 (GRCm39) S216P probably damaging Het
Ankrd12 T C 17: 66,338,428 (GRCm39) D197G probably damaging Het
Aoc3 C A 11: 101,222,488 (GRCm39) H198Q probably damaging Het
Aox1 C A 1: 58,143,640 (GRCm39) H1253N probably benign Het
Arg1 T A 10: 24,798,536 (GRCm39) E38V possibly damaging Het
Baz2b T A 2: 59,738,087 (GRCm39) M1741L probably benign Het
Bend4 T C 5: 67,574,915 (GRCm39) E322G probably damaging Het
Brpf1 T C 6: 113,294,639 (GRCm39) V661A possibly damaging Het
C2cd3 A T 7: 100,104,160 (GRCm39) T2058S probably damaging Het
Camk4 T C 18: 33,309,266 (GRCm39) V223A probably damaging Het
Casp1 C T 9: 5,306,742 (GRCm39) R395C probably damaging Het
Ccdc180 T G 4: 45,923,244 (GRCm39) I1066S probably damaging Het
Ccne1 A G 7: 37,798,744 (GRCm39) F292L probably damaging Het
Ccz1 A T 5: 143,949,628 (GRCm39) M100K probably damaging Het
Cep128 T C 12: 91,226,936 (GRCm39) T678A probably benign Het
Cep290 G A 10: 100,330,773 (GRCm39) R151Q probably benign Het
Crip3 A G 17: 46,741,673 (GRCm39) probably benign Het
Ddx60 A G 8: 62,474,348 (GRCm39) M1479V possibly damaging Het
Defb40 T A 8: 19,025,093 (GRCm39) I38F probably benign Het
Dpysl3 T C 18: 43,467,079 (GRCm39) I279V probably damaging Het
Echs1 G A 7: 139,692,499 (GRCm39) probably benign Het
Efl1 T A 7: 82,320,835 (GRCm39) N89K probably damaging Het
Extl3 T C 14: 65,313,443 (GRCm39) T580A probably benign Het
Fam171a2 C T 11: 102,330,982 (GRCm39) G193E probably damaging Het
Fam234a A T 17: 26,435,591 (GRCm39) D264E probably benign Het
Fbxw20 A T 9: 109,063,763 (GRCm39) V3D possibly damaging Het
Fig4 G A 10: 41,109,586 (GRCm39) P637L probably benign Het
Fnbp1l G A 3: 122,339,964 (GRCm39) T496I probably benign Het
Fry T C 5: 150,325,108 (GRCm39) V1175A possibly damaging Het
Gm5617 C T 9: 48,406,968 (GRCm39) A34V possibly damaging Het
Gnai1 A T 5: 18,496,596 (GRCm39) V109E probably benign Het
H2-K2 A T 17: 34,216,298 (GRCm39) Y283N probably benign Het
Hectd2 A T 19: 36,582,682 (GRCm39) I471F probably damaging Het
Hsdl2 T C 4: 59,612,812 (GRCm39) probably null Het
Igkv3-1 T C 6: 70,681,028 (GRCm39) S76P probably damaging Het
Krt15 A T 11: 100,022,897 (GRCm39) S439R probably benign Het
Lama2 TTTGCGCATT TTT 10: 26,919,639 (GRCm39) probably null Het
Lima1 G A 15: 99,717,457 (GRCm39) T23I probably benign Het
Map4k1 C A 7: 28,688,195 (GRCm39) H248Q probably damaging Het
Mcf2l C A 8: 13,063,972 (GRCm39) T1004K probably damaging Het
Meak7 T G 8: 120,499,262 (GRCm39) T77P probably benign Het
Micall1 T A 15: 79,007,146 (GRCm39) probably benign Het
Ms4a14 A G 19: 11,278,976 (GRCm39) I1194T probably benign Het
Mtor T C 4: 148,539,273 (GRCm39) *257Q probably null Het
Mucl3 G A 17: 35,948,468 (GRCm39) T377I possibly damaging Het
Ncan T A 8: 70,556,705 (GRCm39) T961S probably benign Het
Odad4 A G 11: 100,441,147 (GRCm39) N126S probably damaging Het
Or10z1 A T 1: 174,078,262 (GRCm39) I77N probably damaging Het
Or1e29 T A 11: 73,667,372 (GRCm39) L260F probably benign Het
Or1f19 T C 16: 3,410,706 (GRCm39) S149P probably damaging Het
Or2t49 T A 11: 58,392,735 (GRCm39) I216F probably damaging Het
Or8h10 T G 2: 86,808,693 (GRCm39) Y149S probably damaging Het
Or9e1 T A 11: 58,732,033 (GRCm39) L31H possibly damaging Het
Pcdhgb2 A G 18: 37,825,153 (GRCm39) R715G probably benign Het
Pik3c3 T C 18: 30,477,131 (GRCm39) probably null Het
Pkhd1l1 A T 15: 44,354,497 (GRCm39) D296V probably damaging Het
Plekhh2 A G 17: 84,908,125 (GRCm39) I1189V probably damaging Het
Psg18 A T 7: 18,087,409 (GRCm39) L83Q possibly damaging Het
Rps6kc1 A G 1: 190,532,515 (GRCm39) W496R probably damaging Het
Setd5 C T 6: 113,126,527 (GRCm39) T1188I probably damaging Het
Slc4a3 T C 1: 75,531,729 (GRCm39) F899L probably damaging Het
Slitrk6 T C 14: 110,989,315 (GRCm39) T131A probably damaging Het
Speg G T 1: 75,398,379 (GRCm39) R1942L probably damaging Het
Sulf2 C A 2: 165,923,524 (GRCm39) R565L probably benign Het
Tcerg1 T C 18: 42,657,046 (GRCm39) M176T unknown Het
Tfcp2l1 T C 1: 118,597,239 (GRCm39) I440T possibly damaging Het
Tgm7 A T 2: 120,929,445 (GRCm39) probably null Het
Tjp2 C A 19: 24,099,484 (GRCm39) G433V probably damaging Het
Tmc7 C T 7: 118,142,565 (GRCm39) G608R probably damaging Het
Tmed4 A G 11: 6,224,456 (GRCm39) F68S possibly damaging Het
Tmem30b G A 12: 73,592,686 (GRCm39) P143L probably damaging Het
Tnfrsf23 C T 7: 143,235,217 (GRCm39) C49Y probably damaging Het
Tnni3k A T 3: 154,492,445 (GRCm39) probably null Het
Trav12-2 G T 14: 53,854,150 (GRCm39) M41I probably benign Het
Trim6 T A 7: 103,881,692 (GRCm39) Y314* probably null Het
Utp25 A G 1: 192,796,072 (GRCm39) Y686H probably damaging Het
Vmn2r118 A G 17: 55,899,894 (GRCm39) V670A probably damaging Het
Zfp438 A T 18: 5,213,154 (GRCm39) D601E probably benign Het
Zfp606 T A 7: 12,226,983 (GRCm39) I310N possibly damaging Het
Other mutations in Dnajb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01490:Dnajb2 APN 1 75,213,534 (GRCm39) missense probably damaging 1.00
R0494:Dnajb2 UTSW 1 75,216,278 (GRCm39) unclassified probably benign
R2118:Dnajb2 UTSW 1 75,214,121 (GRCm39) missense probably damaging 1.00
R3837:Dnajb2 UTSW 1 75,218,124 (GRCm39) critical splice donor site probably null
R3838:Dnajb2 UTSW 1 75,218,124 (GRCm39) critical splice donor site probably null
R3839:Dnajb2 UTSW 1 75,218,124 (GRCm39) critical splice donor site probably null
R4105:Dnajb2 UTSW 1 75,213,543 (GRCm39) nonsense probably null
R4108:Dnajb2 UTSW 1 75,213,543 (GRCm39) nonsense probably null
R7115:Dnajb2 UTSW 1 75,220,306 (GRCm39) missense
R7960:Dnajb2 UTSW 1 75,218,055 (GRCm39) missense
R8248:Dnajb2 UTSW 1 75,220,226 (GRCm39) missense
R8512:Dnajb2 UTSW 1 75,218,075 (GRCm39) missense
R8537:Dnajb2 UTSW 1 75,216,242 (GRCm39) missense probably damaging 1.00
R9066:Dnajb2 UTSW 1 75,217,874 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- TACATGGATGTCAATTCCAGAGAG -3'
(R):5'- TCACACTCTTATGGGTGCCC -3'

Sequencing Primer
(F):5'- TCAATTCCAGAGAGAGGCTTGTG -3'
(R):5'- CCCCACGTCAAGGTCTCG -3'
Posted On 2016-10-03