Incidental Mutation 'R4067:Dnajc7'
ID 316182
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 040853-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4067 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 100473644-100511014 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100492607 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 38 (Y38C)
Ref Sequence ENSEMBL: ENSMUSP00000014339 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014339] [ENSMUST00000146840]
AlphaFold Q9QYI3
Predicted Effect probably benign
Transcript: ENSMUST00000014339
AA Change: Y38C

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000014339
Gene: ENSMUSG00000014195
AA Change: Y38C

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: ENSMUST00000132886
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137688
Predicted Effect probably benign
Transcript: ENSMUST00000146840
AA Change: Y22C

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000115438
Gene: ENSMUSG00000014195
AA Change: Y22C

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: ENSMUST00000154972
Predicted Effect unknown
Transcript: ENSMUST00000155152
AA Change: Y28C
SMART Domains Protein: ENSMUSP00000116793
Gene: ENSMUSG00000014195
AA Change: Y28C

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
Meta Mutation Damage Score 0.1562 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.8%
Validation Efficiency 98% (61/62)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700025G04Rik T A 1: 151,769,150 (GRCm39) T121S possibly damaging Het
4930503E14Rik T C 14: 44,406,641 (GRCm39) E136G probably damaging Het
Adgrg4 A G X: 56,005,320 (GRCm39) N2527S probably damaging Het
Ak1 G A 2: 32,519,593 (GRCm39) S7N probably benign Het
Aktip A C 8: 91,852,466 (GRCm39) I230R possibly damaging Het
Alms1 A G 6: 85,598,271 (GRCm39) I1032M probably damaging Het
Asb4 T A 6: 5,423,651 (GRCm39) V266E probably damaging Het
Bace1 G A 9: 45,765,962 (GRCm39) V130M probably damaging Het
Bglap A T 3: 88,291,744 (GRCm39) probably benign Het
Brpf3 T C 17: 29,040,233 (GRCm39) S885P probably benign Het
Chd9 A T 8: 91,750,202 (GRCm39) I1742F possibly damaging Het
Col9a2 T A 4: 120,909,586 (GRCm39) I415N probably damaging Het
Cybc1 A T 11: 121,115,528 (GRCm39) probably null Het
Dync2i2 A G 2: 29,922,820 (GRCm39) L309P probably benign Het
Enam A G 5: 88,651,236 (GRCm39) Y840C probably damaging Het
Etnppl T A 3: 130,425,442 (GRCm39) C416S probably damaging Het
Fgf20 A T 8: 40,732,896 (GRCm39) S181T probably benign Het
Fut8 T A 12: 77,510,835 (GRCm39) Y421N probably damaging Het
Gcn1 T G 5: 115,737,147 (GRCm39) L1295R probably damaging Het
Gm11437 A G 11: 84,055,337 (GRCm39) V93A probably benign Het
Gm9989 T C 3: 81,829,549 (GRCm39) noncoding transcript Het
Gsdmc4 A T 15: 63,765,736 (GRCm39) probably null Het
Gvin3 T A 7: 106,198,772 (GRCm39) noncoding transcript Het
Ighv10-1 A T 12: 114,442,643 (GRCm39) M114K probably benign Het
Il22b T C 10: 118,126,115 (GRCm39) I161V probably damaging Het
Itfg2 T A 6: 128,387,413 (GRCm39) probably benign Het
Kirrel1 G A 3: 86,995,774 (GRCm39) Q387* probably null Het
Klk1 C T 7: 43,876,968 (GRCm39) R24* probably null Het
Klra7 T C 6: 130,208,612 (GRCm39) probably null Het
Ltn1 T C 16: 87,213,118 (GRCm39) Y481C possibly damaging Het
Man1c1 G C 4: 134,430,749 (GRCm39) P11R probably damaging Het
Mrps2 A G 2: 28,359,782 (GRCm39) N213S probably benign Het
Muc4 A T 16: 32,569,869 (GRCm39) I310F possibly damaging Het
Ntrk3 T A 7: 78,167,185 (GRCm39) Y102F probably damaging Het
Or8k24 A T 2: 86,216,431 (GRCm39) C110* probably null Het
Otof C T 5: 30,556,635 (GRCm39) G282D probably damaging Het
Pcdhb2 A T 18: 37,430,367 (GRCm39) probably null Het
Pign A T 1: 105,515,703 (GRCm39) probably null Het
Plekha6 G A 1: 133,222,416 (GRCm39) E1001K probably benign Het
Plxna2 C T 1: 194,431,625 (GRCm39) S538F probably damaging Het
Ppm1d A G 11: 85,236,678 (GRCm39) T486A probably benign Het
Pudp A G 18: 50,701,329 (GRCm39) F135L probably benign Het
Rd3l T G 12: 111,945,945 (GRCm39) N178T probably benign Het
Rel A C 11: 23,703,215 (GRCm39) probably null Het
Sf3a1 T A 11: 4,117,824 (GRCm39) F195L probably damaging Het
Slc30a1 G C 1: 191,639,401 (GRCm39) A95P probably damaging Het
Slc47a2 T C 11: 61,194,773 (GRCm39) T469A probably benign Het
Slc4a10 A T 2: 61,876,989 (GRCm39) M1L probably benign Het
Slc8a1 T A 17: 81,955,703 (GRCm39) D445V probably damaging Het
Slc9a7 C T X: 20,071,793 (GRCm39) G113R probably damaging Het
Spata31e5 T A 1: 28,816,712 (GRCm39) D440V probably damaging Het
Spic T C 10: 88,511,545 (GRCm39) H237R possibly damaging Het
Stk26 A G X: 49,977,910 (GRCm39) E317G probably benign Het
Tex10 A T 4: 48,459,355 (GRCm39) Y506* probably null Het
Trhde T A 10: 114,280,585 (GRCm39) R848* probably null Het
Trpc5 T A X: 143,202,594 (GRCm39) R545* probably null Het
Usp24 C T 4: 106,216,286 (GRCm39) T379M possibly damaging Het
Zfp783 A T 6: 47,922,499 (GRCm39) noncoding transcript 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
R4611:Dnajc7 UTSW 11 100,481,803 (GRCm39) nonsense probably null
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'- AATCACTGATCCTGGGGAGGAG -3'
(R):5'- ACCATACCTTGTGGGGTTTG -3'

Sequencing Primer
(F):5'- TCCTGGGGAGGAGTGAGC -3'
(R):5'- ATTTCAGGTGTGAACTACCGC -3'
Posted On 2015-05-15