Mutagenetix > Incidental Mutation

Incidental Mutation 'R4772:Dnajc10'

367580

Institutional Source

Beutler Lab

Gene Symbol

Dnajc10

Ensembl Gene

ENSMUSG00000027006

Gene Name

DnaJ heat shock protein family (Hsp40) member C10

Synonyms

1200006L06Rik, JPDI, ERdj5, D2Ertd706e

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.185) question?

Stock #

R4772 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80145810-80184387 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 80170870 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 454 (H454N)

Ref Sequence

ENSEMBL: ENSMUSP00000028392 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028392]

AlphaFold

Q9DC23

PDB Structure

Crystal structure of full-length ERdj5 [X-RAY DIFFRACTION]
Crystal structure of J-Trx1 fragment of ERdj5 [X-RAY DIFFRACTION]
Crystal structure of Trx4 domain of ERdj5 [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000028392
AA Change: H454N

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000028392
Gene: ENSMUSG00000027006
AA Change: H454N

Domain	Start	End	E-Value	Type
DnaJ	34	92	9.73e-26	SMART
Pfam:Thioredoxin	130	232	5.6e-21	PFAM
low complexity region	384	392	N/A	INTRINSIC
Pfam:Thioredoxin	454	553	2.3e-21	PFAM
Pfam:Thioredoxin	557	663	2e-21	PFAM
Pfam:Thioredoxin	672	776	5.8e-26	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153093

Meta Mutation Damage Score

0.1418

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

95% (74/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an endoplasmic reticulum co-chaperone which is part of the endoplasmic reticulum-associated degradation complex involved in recognizing and degrading misfolded proteins. The encoded protein reduces incorrect disulfide bonds in misfolded glycoproteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased endoplasmic reticulum stress in the salivary gland. Female homozygous mutant mice are smaller than controls. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,265,339 (GRCm39)		probably null	Het
Adamts19	A	G	18: 58,970,848 (GRCm39)	Q144R	possibly damaging	Het
Adgrb3	C	A	1: 25,570,956 (GRCm39)	C507F	probably damaging	Het
Atg9b	T	C	5: 24,590,237 (GRCm39)	*923W	probably null	Het
Atp13a4	T	C	16: 29,239,653 (GRCm39)		probably benign	Het
Baz2b	G	T	2: 59,788,795 (GRCm39)	R697S	probably damaging	Het
Bicdl1	A	G	5: 115,799,537 (GRCm39)	I184T	probably benign	Het
Bpifb4	C	T	2: 153,784,903 (GRCm39)	L204F	possibly damaging	Het
Cep120	C	T	18: 53,851,561 (GRCm39)	R577Q	probably damaging	Het
Cplx4	T	C	18: 66,103,048 (GRCm39)	E24G	possibly damaging	Het
Dcxr	T	C	11: 120,616,923 (GRCm39)	T147A	probably benign	Het
Dsp	G	T	13: 38,351,504 (GRCm39)	G108*	probably null	Het
Entpd6	T	A	2: 150,609,014 (GRCm39)	I366K	probably damaging	Het
Fam111a	A	G	19: 12,565,057 (GRCm39)	K269E	probably benign	Het
Grid2ip	T	G	5: 143,361,455 (GRCm39)	V222G	possibly damaging	Het
Hmcn2	T	G	2: 31,335,326 (GRCm39)	V4421G	probably benign	Het
Ifi207	T	C	1: 173,555,253 (GRCm39)	T817A	probably damaging	Het
Irak2	A	T	6: 113,670,683 (GRCm39)	E533V	probably damaging	Het
Katnip	A	G	7: 125,464,523 (GRCm39)	S1297G	probably damaging	Het
Kbtbd6	T	C	14: 79,689,596 (GRCm39)	F97S	probably damaging	Het
Kctd14	A	T	7: 97,106,883 (GRCm39)	E99V	probably damaging	Het
Klhl10	A	T	11: 100,338,557 (GRCm39)	Y432F	probably benign	Het
Lrrc49	T	C	9: 60,592,335 (GRCm39)	N53S	possibly damaging	Het
Mief2	T	A	11: 60,621,288 (GRCm39)		probably benign	Het
Mog	A	T	17: 37,334,049 (GRCm39)	S15T	unknown	Het
Mpi	T	C	9: 57,452,181 (GRCm39)	D365G	probably damaging	Het
Mpp7	A	G	18: 7,379,983 (GRCm39)		probably null	Het
Nes	A	G	3: 87,883,486 (GRCm39)	T582A	probably benign	Het
Nlrp14	A	G	7: 106,780,393 (GRCm39)	D5G	probably benign	Het
Nr1i3	C	T	1: 171,044,719 (GRCm39)	T218I	probably damaging	Het
Nup43	C	T	10: 7,554,433 (GRCm39)	R339*	probably null	Het
Nup58	T	A	14: 60,457,471 (GRCm39)	R577S	probably benign	Het
Olfr908	C	T	9: 38,427,897 (GRCm39)		probably benign	Het
Or4l15	AAATTTGAA	AAA	14: 50,198,452 (GRCm39)		probably benign	Het
Or52n4b	T	A	7: 108,144,092 (GRCm39)	M120K	probably damaging	Het
Or5d35	T	A	2: 87,855,207 (GRCm39)	I47K	probably damaging	Het
Or6c38	A	T	10: 128,929,537 (GRCm39)	V102D	possibly damaging	Het
Or9g20	G	A	2: 85,630,338 (GRCm39)	S92F	probably damaging	Het
Orc1	T	C	4: 108,436,765 (GRCm39)		probably benign	Het
Pax6	C	A	2: 105,526,847 (GRCm39)	P251Q	probably benign	Het
Phactr3	C	T	2: 177,925,729 (GRCm39)	R330W	probably damaging	Het
Phldb1	G	A	9: 44,622,324 (GRCm39)	R81W	probably damaging	Het
Pip5k1c	C	T	10: 81,151,774 (GRCm39)	P656L	probably benign	Het
Pkn3	T	G	2: 29,974,692 (GRCm39)		probably null	Het
Plcb2	T	A	2: 118,543,615 (GRCm39)	H752L	probably benign	Het
Plch1	G	A	3: 63,660,746 (GRCm39)	T291M	probably damaging	Het
Plekhg1	A	T	10: 3,823,127 (GRCm39)	M32L	probably benign	Het
Plekhg1	A	T	10: 3,823,130 (GRCm39)	T33S	probably damaging	Het
Plk4	A	G	3: 40,759,625 (GRCm39)	T174A	probably damaging	Het
Ppip5k2	C	A	1: 97,648,792 (GRCm39)		probably benign	Het
Prl2a1	G	A	13: 27,988,961 (GRCm39)	V29M	probably benign	Het
R3hcc1l	T	C	19: 42,571,996 (GRCm39)		probably benign	Het
Rasa3	C	T	8: 13,648,289 (GRCm39)	G125D	probably damaging	Het
Sema3f	A	T	9: 107,566,919 (GRCm39)	Y136*	probably null	Het
Slc13a5	T	A	11: 72,141,672 (GRCm39)		probably null	Het
Slc16a1	T	C	3: 104,560,880 (GRCm39)	V395A	possibly damaging	Het
Sparcl1	C	T	5: 104,236,356 (GRCm39)	A466T	probably benign	Het
Srrm1	G	A	4: 135,069,690 (GRCm39)		probably benign	Het
Styxl1	G	A	5: 135,797,755 (GRCm39)	R50*	probably null	Het
Tex264	T	A	9: 106,550,901 (GRCm39)	I99F	possibly damaging	Het
Tgtp2	T	C	11: 48,949,811 (GRCm39)	T254A	probably damaging	Het
Tmem245	A	C	4: 56,937,989 (GRCm39)		probably null	Het
Tnik	A	T	3: 28,661,359 (GRCm39)	T587S	probably benign	Het
Tpr	T	G	1: 150,288,864 (GRCm39)	S648A	possibly damaging	Het
Ttn	T	C	2: 76,596,313 (GRCm39)	E18454G	probably damaging	Het
Utp20	A	C	10: 88,645,797 (GRCm39)	H527Q	probably benign	Het
Vmn1r1	A	T	1: 181,985,111 (GRCm39)	S185T	probably benign	Het
Vps54	C	T	11: 21,262,952 (GRCm39)	H680Y	probably damaging	Het
Vwa5b2	A	G	16: 20,419,553 (GRCm39)		probably null	Het
Wscd1	T	C	11: 71,662,802 (GRCm39)		probably null	Het
Zbtb41	C	T	1: 139,375,152 (GRCm39)	P871S	probably damaging	Het
Zcchc4	T	C	5: 52,953,549 (GRCm39)	L186P	possibly damaging	Het
Zdhhc13	A	G	7: 48,449,621 (GRCm39)	Y73C	probably benign	Het
Zfp12	A	G	5: 143,225,755 (GRCm39)	E21G	probably damaging	Het

Other mutations in Dnajc10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01367:Dnajc10	APN	2	80,155,096 (GRCm39)	splice site	probably benign
IGL01420:Dnajc10	APN	2	80,175,367 (GRCm39)	missense	possibly damaging	0.81
IGL01466:Dnajc10	APN	2	80,151,631 (GRCm39)	missense	probably benign	0.00
IGL01645:Dnajc10	APN	2	80,170,871 (GRCm39)	missense	possibly damaging	0.46
IGL01929:Dnajc10	APN	2	80,158,420 (GRCm39)	missense	probably damaging	0.99
IGL01958:Dnajc10	APN	2	80,151,648 (GRCm39)	splice site	probably benign
IGL02205:Dnajc10	APN	2	80,179,702 (GRCm39)	missense	possibly damaging	0.74
IGL02289:Dnajc10	APN	2	80,170,870 (GRCm39)	missense	probably damaging	0.98
IGL02661:Dnajc10	APN	2	80,157,084 (GRCm39)	splice site	probably benign
IGL02865:Dnajc10	APN	2	80,161,647 (GRCm39)	missense	probably benign
IGL03026:Dnajc10	APN	2	80,179,647 (GRCm39)	missense	probably damaging	0.96
IGL03407:Dnajc10	APN	2	80,176,985 (GRCm39)	missense	probably damaging	1.00
PIT4283001:Dnajc10	UTSW	2	80,161,739 (GRCm39)	missense	probably benign	0.19
R0092:Dnajc10	UTSW	2	80,156,026 (GRCm39)	missense	probably damaging	0.97
R0457:Dnajc10	UTSW	2	80,175,290 (GRCm39)	missense	possibly damaging	0.65
R1414:Dnajc10	UTSW	2	80,178,021 (GRCm39)	missense	probably damaging	0.99
R1739:Dnajc10	UTSW	2	80,178,006 (GRCm39)	missense	probably benign	0.03
R2126:Dnajc10	UTSW	2	80,181,078 (GRCm39)	critical splice donor site	probably null
R3717:Dnajc10	UTSW	2	80,155,089 (GRCm39)	splice site	probably benign
R3718:Dnajc10	UTSW	2	80,155,089 (GRCm39)	splice site	probably benign
R4020:Dnajc10	UTSW	2	80,175,296 (GRCm39)	missense	probably damaging	1.00
R4453:Dnajc10	UTSW	2	80,176,967 (GRCm39)	missense	probably damaging	0.98
R4585:Dnajc10	UTSW	2	80,178,122 (GRCm39)	missense	probably damaging	1.00
R4586:Dnajc10	UTSW	2	80,178,122 (GRCm39)	missense	probably damaging	1.00
R5653:Dnajc10	UTSW	2	80,179,712 (GRCm39)	missense	probably damaging	1.00
R6157:Dnajc10	UTSW	2	80,147,735 (GRCm39)	start gained	probably benign
R6263:Dnajc10	UTSW	2	80,174,292 (GRCm39)	missense	probably damaging	1.00
R6303:Dnajc10	UTSW	2	80,181,008 (GRCm39)	missense	probably benign	0.07
R6932:Dnajc10	UTSW	2	80,161,680 (GRCm39)	missense	probably benign
R7104:Dnajc10	UTSW	2	80,171,159 (GRCm39)	missense	probably damaging	1.00
R7181:Dnajc10	UTSW	2	80,149,587 (GRCm39)	nonsense	probably null
R7458:Dnajc10	UTSW	2	80,155,094 (GRCm39)	splice site	probably null
R7842:Dnajc10	UTSW	2	80,175,409 (GRCm39)	missense	probably benign	0.04
R8123:Dnajc10	UTSW	2	80,179,704 (GRCm39)	missense	probably damaging	1.00
R8276:Dnajc10	UTSW	2	80,179,614 (GRCm39)	missense	probably benign
R8365:Dnajc10	UTSW	2	80,176,902 (GRCm39)	missense	probably damaging	1.00
R8915:Dnajc10	UTSW	2	80,147,801 (GRCm39)	missense	possibly damaging	0.62
R9025:Dnajc10	UTSW	2	80,179,637 (GRCm39)	missense	probably damaging	1.00
R9169:Dnajc10	UTSW	2	80,163,315 (GRCm39)	missense	probably benign
R9262:Dnajc10	UTSW	2	80,176,965 (GRCm39)	missense	probably benign	0.17
R9292:Dnajc10	UTSW	2	80,176,916 (GRCm39)	missense	probably benign
R9332:Dnajc10	UTSW	2	80,175,327 (GRCm39)	missense	probably benign	0.35
X0018:Dnajc10	UTSW	2	80,181,018 (GRCm39)	missense	probably damaging	0.97
X0024:Dnajc10	UTSW	2	80,175,306 (GRCm39)	missense	probably benign	0.19
Z1177:Dnajc10	UTSW	2	80,149,577 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACATAGAGTAGACGGGGATTCC -3'
(R):5'- AAGGATGAGCAGCCAGACTC -3'

Sequencing Primer
(F):5'- ATTCCCGGCAGGCCAAG -3'
(R):5'- CTGTCACTGTCCTGGGAGAG -3'

Posted On

2015-12-29