Incidental Mutation 'R4611:Dnajc7'
ID 344747
Institutional Source Beutler Lab
Gene Symbol Dnajc7
Ensembl Gene ENSMUSG00000014195
Gene Name DnaJ heat shock protein family (Hsp40) member C7
Synonyms 2010003F24Rik, mDj11, Ttc2, mTpr2, 2010004G07Rik
MMRRC Submission 041822-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4611 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 100473644-100511014 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 100481803 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 228 (Y228*)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014339] [ENSMUST00000146840]
AlphaFold Q9QYI3
Predicted Effect probably null
Transcript: ENSMUST00000014339
AA Change: Y276*
SMART Domains Protein: ENSMUSP00000014339
Gene: ENSMUSG00000014195
AA Change: Y276*

DomainStartEndE-ValueType
TPR 28 61 3.39e-7 SMART
TPR 62 95 1.11e-2 SMART
TPR 96 129 4.09e-1 SMART
Blast:TPR 142 175 4e-13 BLAST
Blast:TPR 176 209 1e-13 BLAST
TPR 210 243 2.29e-4 SMART
TPR 256 289 1.11e-2 SMART
TPR 294 327 2.87e-5 SMART
TPR 328 361 1.83e-3 SMART
DnaJ 380 443 2.93e-29 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136199
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137688
Predicted Effect probably benign
Transcript: ENSMUST00000146840
SMART Domains Protein: ENSMUSP00000115438
Gene: ENSMUSG00000014195

DomainStartEndE-ValueType
TPR 12 45 3.39e-7 SMART
TPR 46 79 1.11e-2 SMART
TPR 80 113 4.09e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147403
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148098
Predicted Effect probably null
Transcript: ENSMUST00000155152
AA Change: Y228*
SMART Domains Protein: ENSMUSP00000116793
Gene: ENSMUSG00000014195
AA Change: Y228*

DomainStartEndE-ValueType
TPR 19 52 3.39e-7 SMART
TPR 53 86 1.11e-2 SMART
Blast:TPR 95 128 1e-13 BLAST
Blast:TPR 129 162 3e-14 BLAST
TPR 163 196 2.29e-4 SMART
TPR 209 242 1.11e-2 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the DNAJ heat shock protein 40 family of proteins that is characterized by two N-terminal tetratricopeptide repeat domains and a C-terminal DNAJ domain. This protein binds the chaperone proteins heat shock proteins 70 and 90 in an ATP-dependent manner and may function as a co-chaperone. Pseudogenes of this gene are found on chromosomes 1 and 6. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]
PHENOTYPE: Male mice homozygous for a knock-out allele exhibit hepatic steatosis and increased serum cholesterol. [provided by MGI curators]
Allele List at MGI

All alleles(178) : Targeted, other(2) Gene trapped(176)

Other mutations in this stock
Total: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik G A 5: 109,885,259 (GRCm39) R200C probably benign Het
Ak7 G A 12: 105,679,834 (GRCm39) V123M probably benign Het
Aoc1l1 A T 6: 48,952,090 (GRCm39) Q5L probably benign Het
Apc T C 18: 34,451,618 (GRCm39) L2804P probably damaging Het
Apob C A 12: 8,061,331 (GRCm39) A3271E probably damaging Het
Asl G T 5: 130,047,157 (GRCm39) A147E probably damaging Het
Atp1a1 A G 3: 101,494,259 (GRCm39) V447A probably benign Het
AY358078 T A 14: 52,063,532 (GRCm39) C393S possibly damaging Het
Bcl11b T C 12: 107,882,789 (GRCm39) K509E probably damaging Het
Btnl1 T C 17: 34,598,699 (GRCm39) I105T probably damaging Het
Btnl10 A G 11: 58,811,183 (GRCm39) T169A probably damaging Het
C8b T C 4: 104,647,841 (GRCm39) I278T probably damaging Het
Ccdc66 T C 14: 27,222,377 (GRCm39) N122S probably damaging Het
Cd8b1 T C 6: 71,309,459 (GRCm39) V181A probably benign Het
Cdan1 A T 2: 120,561,201 (GRCm39) V189D probably damaging Het
Celf2 G T 2: 6,590,831 (GRCm39) N279K possibly damaging Het
Cfap52 T C 11: 67,817,247 (GRCm39) N549D probably damaging Het
Cmklr1 C T 5: 113,752,930 (GRCm39) V24M probably benign Het
Cntnap4 G T 8: 113,500,371 (GRCm39) probably null Het
Col27a1 G A 4: 63,211,743 (GRCm39) G91R probably damaging Het
Col5a3 A G 9: 20,726,192 (GRCm39) probably benign Het
Dcc C T 18: 71,682,069 (GRCm39) probably null Het
Deaf1 T A 7: 140,890,884 (GRCm39) T433S possibly damaging Het
Dnah8 T A 17: 30,903,211 (GRCm39) L950H probably damaging Het
Eno1b T C 18: 48,180,770 (GRCm39) V316A probably damaging Het
Exoc4 T C 6: 33,415,340 (GRCm39) M404T possibly damaging Het
Fignl1 A T 11: 11,751,268 (GRCm39) C596S probably benign Het
Fn1 A C 1: 71,663,337 (GRCm39) Y1050* probably null Het
Frem2 A G 3: 53,455,228 (GRCm39) L2116S possibly damaging Het
Gba2 T A 4: 43,568,092 (GRCm39) S732C probably damaging Het
Gcnt4 C A 13: 97,082,990 (GRCm39) S95R probably benign Het
Gpr37 A G 6: 25,669,623 (GRCm39) V407A probably benign Het
Gria2 A T 3: 80,599,799 (GRCm39) M695K probably damaging Het
Hoxa9 T C 6: 52,202,690 (GRCm39) K132R probably damaging Het
Ifi213 T A 1: 173,417,480 (GRCm39) T311S possibly damaging Het
Itgb2 T A 10: 77,385,884 (GRCm39) N282K probably damaging Het
Kcnh8 A T 17: 52,909,864 (GRCm39) Q11L probably benign Het
Klk14 T C 7: 43,343,781 (GRCm39) C163R probably damaging Het
Klk1b3 T A 7: 43,850,689 (GRCm39) W74R possibly damaging Het
Krtap13-1 G T 16: 88,526,142 (GRCm39) C122F possibly damaging Het
Luzp2 T C 7: 54,713,104 (GRCm39) probably null Het
Mbtps1 A T 8: 120,262,086 (GRCm39) D354E probably damaging Het
Mcpt9 C T 14: 56,266,049 (GRCm39) V60M probably damaging Het
Mical3 C A 6: 120,911,799 (GRCm39) E1083* probably null Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Mtor T A 4: 148,570,576 (GRCm39) V1211E probably benign Het
Myb T A 10: 21,021,223 (GRCm39) D402V probably damaging Het
Ncor2 G A 5: 125,107,923 (GRCm39) T1593I probably damaging Het
Ndst3 A G 3: 123,465,198 (GRCm39) I258T probably benign Het
Npy6r C A 18: 44,409,468 (GRCm39) H296Q probably damaging Het
Olfml2b T A 1: 170,472,516 (GRCm39) L9H probably damaging Het
Or10a3n A G 7: 108,493,324 (GRCm39) C97R probably damaging Het
Or1a1b A T 11: 74,097,361 (GRCm39) V227D possibly damaging Het
Or2w2 A T 13: 21,757,744 (GRCm39) V294D probably damaging Het
Or4k15 C A 14: 50,364,530 (GRCm39) N165K probably benign Het
Or5b119 C T 19: 13,457,376 (GRCm39) C62Y probably damaging Het
Or5b94 T A 19: 12,652,318 (GRCm39) Y250N probably damaging Het
Or6c207 G A 10: 129,104,274 (GRCm39) A306V probably benign Het
Or8b8 T A 9: 37,809,622 (GRCm39) S307R probably benign Het
Ovgp1 T C 3: 105,893,883 (GRCm39) probably benign Het
Parg G A 14: 31,996,821 (GRCm39) R304Q probably damaging Het
Pdf T G 8: 107,775,167 (GRCm39) S22R probably benign Het
Phlpp2 A T 8: 110,603,515 (GRCm39) R60S possibly damaging Het
Piwil2 C T 14: 70,639,646 (GRCm39) E401K probably benign Het
Pla2g4e T G 2: 120,016,863 (GRCm39) H226P possibly damaging Het
Polr3a T C 14: 24,502,576 (GRCm39) probably null Het
Ppp3cb T C 14: 20,570,714 (GRCm39) N339S possibly damaging Het
Ptch2 G A 4: 116,967,575 (GRCm39) D748N probably benign Het
Rai14 A C 15: 10,592,224 (GRCm39) Y224D probably damaging Het
Rft1 A G 14: 30,411,747 (GRCm39) I432V probably damaging Het
Rictor C T 15: 6,816,625 (GRCm39) A1299V possibly damaging Het
Sall2 A G 14: 52,551,210 (GRCm39) C662R probably damaging Het
Scn4b A G 9: 45,061,737 (GRCm39) N208D probably damaging Het
Sdhb G A 4: 140,700,226 (GRCm39) G109R probably damaging Het
Sec16a A G 2: 26,331,817 (GRCm39) V66A probably benign Het
Sema4g A G 19: 44,990,051 (GRCm39) Y710C probably damaging Het
Serpinb12 T A 1: 106,876,883 (GRCm39) D66E probably benign Het
Shc4 T A 2: 125,497,602 (GRCm39) D369V probably benign Het
Siglech T C 7: 55,421,441 (GRCm39) L285P probably damaging Het
Skint6 A G 4: 112,931,273 (GRCm39) M506T probably benign Het
Slco1a6 C A 6: 142,047,378 (GRCm39) C404F probably benign Het
Slfn14 T A 11: 83,174,140 (GRCm39) K284* probably null Het
Sox14 A G 9: 99,757,715 (GRCm39) I8T probably damaging Het
Srpk3 A G X: 72,818,547 (GRCm39) H79R possibly damaging Het
Tdpoz3 A T 3: 93,734,330 (GRCm39) H335L probably damaging Het
Tdrd5 T A 1: 156,111,944 (GRCm39) T479S probably benign Het
Tnik T C 3: 28,596,249 (GRCm39) probably null Het
Tnpo2 T C 8: 85,780,432 (GRCm39) S720P probably benign Het
Tpst1 A G 5: 130,130,547 (GRCm39) K6E probably damaging Het
Trank1 T A 9: 111,191,329 (GRCm39) I446N probably damaging Het
Trmt44 A T 5: 35,732,351 (GRCm39) D13E probably benign Het
Ubr4 T A 4: 139,126,890 (GRCm39) V471E possibly damaging Het
Ubtd1 A G 19: 42,022,030 (GRCm39) T101A probably benign Het
Ugt3a1 A T 15: 9,306,486 (GRCm39) K212* probably null Het
Zbtb7c C T 18: 76,269,918 (GRCm39) A2V possibly damaging Het
Zfp423 C T 8: 88,414,709 (GRCm39) G1182D possibly damaging Het
Zfp618 G A 4: 63,051,216 (GRCm39) V666M probably damaging Het
Zmat1 A T X: 133,873,694 (GRCm39) S566T probably damaging Homo
Zscan20 T C 4: 128,481,899 (GRCm39) T588A probably benign Het
Zscan25 G A 5: 145,227,926 (GRCm39) R530H probably damaging Het
Other mutations in Dnajc7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00910:Dnajc7 APN 11 100,490,017 (GRCm39) missense possibly damaging 0.90
IGL00924:Dnajc7 APN 11 100,475,111 (GRCm39) missense possibly damaging 0.81
3-1:Dnajc7 UTSW 11 100,480,783 (GRCm39) missense probably damaging 1.00
BB010:Dnajc7 UTSW 11 100,487,038 (GRCm39) missense probably damaging 0.98
BB020:Dnajc7 UTSW 11 100,487,038 (GRCm39) missense probably damaging 0.98
R1282:Dnajc7 UTSW 11 100,475,467 (GRCm39) missense probably damaging 1.00
R1587:Dnajc7 UTSW 11 100,492,556 (GRCm39) missense probably damaging 1.00
R1874:Dnajc7 UTSW 11 100,490,139 (GRCm39) splice site probably benign
R1985:Dnajc7 UTSW 11 100,481,718 (GRCm39) missense probably benign 0.11
R4020:Dnajc7 UTSW 11 100,482,292 (GRCm39) missense probably damaging 0.96
R4065:Dnajc7 UTSW 11 100,492,607 (GRCm39) missense probably benign 0.00
R4067:Dnajc7 UTSW 11 100,492,607 (GRCm39) missense probably benign 0.00
R4687:Dnajc7 UTSW 11 100,490,126 (GRCm39) missense probably damaging 1.00
R4716:Dnajc7 UTSW 11 100,510,402 (GRCm39) missense probably benign
R7469:Dnajc7 UTSW 11 100,482,377 (GRCm39) missense probably benign
R7740:Dnajc7 UTSW 11 100,482,387 (GRCm39) missense probably benign 0.01
R7842:Dnajc7 UTSW 11 100,489,544 (GRCm39) missense probably benign 0.42
R7886:Dnajc7 UTSW 11 100,492,629 (GRCm39) missense probably benign 0.00
R7933:Dnajc7 UTSW 11 100,487,038 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- ACAGGATGAGGGACACCATTC -3'
(R):5'- TGTCAGTGTGTTAAACCTTCCCTG -3'

Sequencing Primer
(F):5'- GGATGAGGGACACCATTCTTTTATC -3'
(R):5'- ATGCAGGGGCCTGTGTC -3'
Posted On 2015-09-25