Incidental Mutation 'IGL03107:Dnajc6'
ID 419019
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnajc6
Ensembl Gene ENSMUSG00000028528
Gene Name DnaJ heat shock protein family (Hsp40) member C6
Synonyms auxilin, 2810027M23Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # IGL03107
Quality Score
Status
Chromosome 4
Chromosomal Location 101353828-101499996 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 101474057 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Leucine at position 486 (W486L)
Ref Sequence ENSEMBL: ENSMUSP00000102546 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038207] [ENSMUST00000094953] [ENSMUST00000106929] [ENSMUST00000106930] [ENSMUST00000106933]
AlphaFold Q80TZ3
Predicted Effect probably benign
Transcript: ENSMUST00000038207
AA Change: W456L

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000044251
Gene: ENSMUSG00000028528
AA Change: W456L

DomainStartEndE-ValueType
SCOP:d1d5ra2 88 244 1e-20 SMART
PTEN_C2 251 390 5.95e-42 SMART
low complexity region 502 521 N/A INTRINSIC
low complexity region 554 569 N/A INTRINSIC
low complexity region 679 694 N/A INTRINSIC
low complexity region 719 735 N/A INTRINSIC
low complexity region 829 840 N/A INTRINSIC
DnaJ 873 934 2e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000094953
AA Change: W418L

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000092560
Gene: ENSMUSG00000028528
AA Change: W418L

DomainStartEndE-ValueType
SCOP:d1d5ra2 50 206 2e-20 SMART
PTEN_C2 213 352 5.95e-42 SMART
low complexity region 464 483 N/A INTRINSIC
low complexity region 516 531 N/A INTRINSIC
low complexity region 641 656 N/A INTRINSIC
low complexity region 681 697 N/A INTRINSIC
low complexity region 791 802 N/A INTRINSIC
DnaJ 835 896 2e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106929
AA Change: W418L

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000102542
Gene: ENSMUSG00000028528
AA Change: W418L

DomainStartEndE-ValueType
SCOP:d1d5ra2 50 206 2e-20 SMART
PTEN_C2 213 352 5.95e-42 SMART
low complexity region 464 483 N/A INTRINSIC
low complexity region 516 531 N/A INTRINSIC
low complexity region 641 656 N/A INTRINSIC
low complexity region 681 697 N/A INTRINSIC
low complexity region 791 802 N/A INTRINSIC
DnaJ 835 896 2e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106930
AA Change: W418L

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000102543
Gene: ENSMUSG00000028528
AA Change: W418L

DomainStartEndE-ValueType
SCOP:d1d5ra2 50 206 2e-20 SMART
PTEN_C2 213 352 5.95e-42 SMART
low complexity region 464 483 N/A INTRINSIC
low complexity region 516 531 N/A INTRINSIC
low complexity region 641 656 N/A INTRINSIC
low complexity region 681 697 N/A INTRINSIC
low complexity region 791 802 N/A INTRINSIC
DnaJ 835 896 2e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106933
AA Change: W486L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102546
Gene: ENSMUSG00000028528
AA Change: W486L

DomainStartEndE-ValueType
low complexity region 30 44 N/A INTRINSIC
SCOP:d1d5ra2 118 274 1e-20 SMART
PTEN_C2 281 420 5.95e-42 SMART
low complexity region 532 551 N/A INTRINSIC
low complexity region 584 599 N/A INTRINSIC
low complexity region 709 724 N/A INTRINSIC
low complexity region 749 765 N/A INTRINSIC
low complexity region 859 870 N/A INTRINSIC
DnaJ 903 964 2e-4 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DNAJC6 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus, a glycine/phenylalanine (G/F)-rich region, and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain (Ohtsuka and Hata, 2000 [PubMed 11147971]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous and heterozygous for a knock-out allele exhibit postnatal lethality and decreased body weight with homozygotes exhibiting decreased synpatic vesicle recycling. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930003A15Rik T C 16: 19,702,518 (GRCm39) noncoding transcript Het
Angpt4 A G 2: 151,785,342 (GRCm39) M453V probably benign Het
Atr T A 9: 95,779,783 (GRCm39) D1380E probably benign Het
Carmil1 A T 13: 24,278,438 (GRCm39) M177K probably damaging Het
Cenpk T A 13: 104,379,280 (GRCm39) I203N probably damaging Het
Cerk A T 15: 86,027,014 (GRCm39) N165K probably benign Het
Col27a1 G A 4: 63,242,869 (GRCm39) probably benign Het
Crb2 A T 2: 37,681,428 (GRCm39) D757V probably benign Het
Csnk1a1 A G 18: 61,701,376 (GRCm39) D91G probably damaging Het
Elmod1 C T 9: 53,841,507 (GRCm39) probably benign Het
Ercc3 G T 18: 32,381,360 (GRCm39) R392L possibly damaging Het
Fam135b C T 15: 71,335,410 (GRCm39) V595I probably benign Het
Fem1al T A 11: 29,774,360 (GRCm39) I366F probably damaging Het
Fermt1 A T 2: 132,775,059 (GRCm39) S256T probably damaging Het
Fstl5 G T 3: 76,443,618 (GRCm39) C321F probably damaging Het
Gpatch1 T G 7: 35,002,742 (GRCm39) N256T probably benign Het
Gpd2 T A 2: 57,245,581 (GRCm39) S425R probably damaging Het
Igkv4-57-1 T G 6: 69,521,574 (GRCm39) M43L probably benign Het
Itgae A G 11: 73,004,427 (GRCm39) Q238R probably damaging Het
Lats1 T A 10: 7,588,510 (GRCm39) D1042E probably benign Het
Lcn8 G A 2: 25,545,377 (GRCm39) G156D probably damaging Het
Loxl4 A C 19: 42,593,718 (GRCm39) V224G probably benign Het
Lrp2 T A 2: 69,285,177 (GRCm39) D3827V probably damaging Het
Neb C A 2: 52,073,837 (GRCm39) R231S probably benign Het
Or2g1 G A 17: 38,106,679 (GRCm39) V115I probably benign Het
Or5b105 A T 19: 13,080,401 (GRCm39) M89K probably benign Het
Or6c211 A G 10: 129,505,809 (GRCm39) M193T probably benign Het
Or6d13 T G 6: 116,517,900 (GRCm39) M162R possibly damaging Het
Or8g54 T G 9: 39,707,475 (GRCm39) M268R probably benign Het
Pappa T G 4: 65,122,940 (GRCm39) S758R probably damaging Het
Pced1a G A 2: 130,264,755 (GRCm39) T61I possibly damaging Het
Pik3cg T C 12: 32,250,594 (GRCm39) D731G probably damaging Het
Plxnb1 G A 9: 108,934,054 (GRCm39) D761N probably benign Het
Pmp22 T C 11: 63,049,135 (GRCm39) V126A probably benign Het
Ppp6r2 G T 15: 89,152,748 (GRCm39) R296S probably damaging Het
Prkcq A C 2: 11,265,597 (GRCm39) H438P probably damaging Het
Ryr1 T A 7: 28,774,624 (GRCm39) Y2339F probably damaging Het
Scaper T C 9: 55,765,686 (GRCm39) probably benign Het
Scp2 T A 4: 107,955,312 (GRCm39) I144F probably benign Het
Secisbp2 T C 13: 51,806,793 (GRCm39) probably null Het
Sema5a T A 15: 32,669,554 (GRCm39) Y693N probably damaging Het
Sin3b T A 8: 73,480,213 (GRCm39) I905K probably damaging Het
Slc13a3 T A 2: 165,279,227 (GRCm39) M195L probably benign Het
Strada A G 11: 106,054,863 (GRCm39) probably benign Het
Stx18 G A 5: 38,293,655 (GRCm39) V294M probably damaging Het
Tbpl2 A T 2: 23,983,845 (GRCm39) N197K probably benign Het
Tdrd9 A T 12: 112,009,274 (GRCm39) H1060L probably damaging Het
Tm4sf5 G A 11: 70,396,223 (GRCm39) V23M possibly damaging Het
Tmem54 C A 4: 129,004,705 (GRCm39) L187I probably damaging Het
Tmprss5 A G 9: 49,024,528 (GRCm39) H281R possibly damaging Het
Trim30c A G 7: 104,031,820 (GRCm39) Y332H possibly damaging Het
Uba6 T A 5: 86,275,633 (GRCm39) probably benign Het
Unc80 C A 1: 66,670,613 (GRCm39) P1912Q probably damaging Het
Other mutations in Dnajc6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00162:Dnajc6 APN 4 101,365,286 (GRCm39) intron probably benign
IGL02336:Dnajc6 APN 4 101,471,483 (GRCm39) splice site probably null
IGL02551:Dnajc6 APN 4 101,496,550 (GRCm39) missense probably damaging 1.00
IGL02801:Dnajc6 APN 4 101,455,010 (GRCm39) missense probably benign 0.33
IGL02887:Dnajc6 APN 4 101,496,497 (GRCm39) missense probably damaging 1.00
IGL03271:Dnajc6 APN 4 101,365,274 (GRCm39) intron probably benign
R0091:Dnajc6 UTSW 4 101,473,974 (GRCm39) splice site probably benign
R0384:Dnajc6 UTSW 4 101,456,153 (GRCm39) missense probably damaging 1.00
R0546:Dnajc6 UTSW 4 101,492,388 (GRCm39) missense probably damaging 0.99
R0689:Dnajc6 UTSW 4 101,468,450 (GRCm39) missense possibly damaging 0.91
R1239:Dnajc6 UTSW 4 101,492,313 (GRCm39) missense probably damaging 0.98
R1421:Dnajc6 UTSW 4 101,468,513 (GRCm39) missense probably damaging 0.97
R1424:Dnajc6 UTSW 4 101,496,544 (GRCm39) missense possibly damaging 0.92
R1563:Dnajc6 UTSW 4 101,456,334 (GRCm39) missense probably damaging 1.00
R1608:Dnajc6 UTSW 4 101,456,364 (GRCm39) missense probably damaging 1.00
R1757:Dnajc6 UTSW 4 101,455,028 (GRCm39) missense probably damaging 1.00
R1856:Dnajc6 UTSW 4 101,456,185 (GRCm39) missense probably damaging 1.00
R2032:Dnajc6 UTSW 4 101,471,435 (GRCm39) missense probably benign 0.39
R2518:Dnajc6 UTSW 4 101,470,127 (GRCm39) missense probably damaging 0.99
R4028:Dnajc6 UTSW 4 101,474,054 (GRCm39) missense probably damaging 1.00
R4088:Dnajc6 UTSW 4 101,496,593 (GRCm39) missense probably damaging 1.00
R4601:Dnajc6 UTSW 4 101,468,461 (GRCm39) missense probably damaging 1.00
R4602:Dnajc6 UTSW 4 101,468,461 (GRCm39) missense probably damaging 1.00
R4610:Dnajc6 UTSW 4 101,468,461 (GRCm39) missense probably damaging 1.00
R4755:Dnajc6 UTSW 4 101,407,996 (GRCm39) missense probably damaging 1.00
R4878:Dnajc6 UTSW 4 101,456,231 (GRCm39) intron probably benign
R4938:Dnajc6 UTSW 4 101,494,010 (GRCm39) missense probably damaging 1.00
R5373:Dnajc6 UTSW 4 101,472,824 (GRCm39) missense probably damaging 0.99
R5391:Dnajc6 UTSW 4 101,485,355 (GRCm39) critical splice donor site probably null
R5435:Dnajc6 UTSW 4 101,463,807 (GRCm39) missense probably damaging 0.99
R5760:Dnajc6 UTSW 4 101,475,839 (GRCm39) missense probably benign 0.39
R6044:Dnajc6 UTSW 4 101,473,774 (GRCm39) missense probably benign 0.22
R6086:Dnajc6 UTSW 4 101,455,004 (GRCm39) missense probably benign 0.45
R6460:Dnajc6 UTSW 4 101,472,795 (GRCm39) missense probably damaging 1.00
R6495:Dnajc6 UTSW 4 101,492,262 (GRCm39) nonsense probably null
R6956:Dnajc6 UTSW 4 101,471,470 (GRCm39) missense probably damaging 0.97
R7072:Dnajc6 UTSW 4 101,472,812 (GRCm39) missense probably damaging 1.00
R7155:Dnajc6 UTSW 4 101,470,142 (GRCm39) missense probably damaging 1.00
R7192:Dnajc6 UTSW 4 101,455,000 (GRCm39) missense probably benign 0.02
R7226:Dnajc6 UTSW 4 101,496,569 (GRCm39) missense probably damaging 1.00
R7298:Dnajc6 UTSW 4 101,463,808 (GRCm39) missense probably benign 0.09
R7612:Dnajc6 UTSW 4 101,455,123 (GRCm39) missense probably benign 0.40
R7622:Dnajc6 UTSW 4 101,497,688 (GRCm39) missense probably damaging 1.00
R7652:Dnajc6 UTSW 4 101,463,874 (GRCm39) missense probably damaging 0.98
R7789:Dnajc6 UTSW 4 101,475,729 (GRCm39) missense possibly damaging 0.82
R8010:Dnajc6 UTSW 4 101,475,611 (GRCm39) missense probably benign 0.01
R8201:Dnajc6 UTSW 4 101,475,960 (GRCm39) missense probably benign 0.08
R8305:Dnajc6 UTSW 4 101,480,984 (GRCm39) missense probably damaging 1.00
R8912:Dnajc6 UTSW 4 101,468,513 (GRCm39) missense probably damaging 1.00
R9012:Dnajc6 UTSW 4 101,470,156 (GRCm39) missense probably damaging 1.00
R9052:Dnajc6 UTSW 4 101,496,617 (GRCm39) missense probably damaging 0.97
R9091:Dnajc6 UTSW 4 101,496,559 (GRCm39) missense possibly damaging 0.80
R9160:Dnajc6 UTSW 4 101,470,258 (GRCm39) unclassified probably benign
R9258:Dnajc6 UTSW 4 101,475,813 (GRCm39) missense probably benign 0.07
R9270:Dnajc6 UTSW 4 101,496,559 (GRCm39) missense possibly damaging 0.80
R9294:Dnajc6 UTSW 4 101,408,054 (GRCm39) critical splice donor site probably null
R9386:Dnajc6 UTSW 4 101,494,098 (GRCm39) critical splice donor site probably null
R9664:Dnajc6 UTSW 4 101,475,821 (GRCm39) missense probably benign 0.04
Z1088:Dnajc6 UTSW 4 101,496,526 (GRCm39) missense probably damaging 1.00
Z1177:Dnajc6 UTSW 4 101,496,625 (GRCm39) missense possibly damaging 0.91
Posted On 2016-08-02