Mutagenetix > Incidental Mutation

Incidental Mutation 'R9332:Dnajc10'

706890

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

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9332 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

80145810-80184387 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 80175327 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 571 (K571N)

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 benign
Transcript: ENSMUST00000028392
AA Change: K571N

PolyPhen 2 Score 0.351 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000028392
Gene: ENSMUSG00000027006
AA Change: K571N

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd55	T	G	13: 112,459,677 (GRCm39)	D90E	probably damaging	Het
Arid1b	C	A	17: 5,045,584 (GRCm39)	P124Q	unknown	Het
Atxn2	C	T	5: 121,923,425 (GRCm39)	P698L	probably damaging	Het
Bend7	T	C	2: 4,757,531 (GRCm39)	V191A	probably benign	Het
Bltp1	G	A	3: 37,104,989 (GRCm39)	D1485N		Het
C2cd4a	T	G	9: 67,738,779 (GRCm39)	H88P	probably damaging	Het
Cacna1s	C	T	1: 136,020,452 (GRCm39)	Q830*	probably null	Het
Camta1	T	C	4: 151,228,474 (GRCm39)	E786G	possibly damaging	Het
Caprin1	A	G	2: 103,603,390 (GRCm39)	S443P	probably benign	Het
Cass4	T	G	2: 172,269,806 (GRCm39)	F629L	probably benign	Het
Ccdc149	T	A	5: 52,562,399 (GRCm39)	D209V	probably damaging	Het
Ccdc150	T	C	1: 54,316,910 (GRCm39)	V263A	probably damaging	Het
Cfc1	C	T	1: 34,576,453 (GRCm39)	R145C	probably damaging	Het
Cnn1	C	A	9: 22,019,350 (GRCm39)	D239E	probably damaging	Het
Cobll1	C	T	2: 64,933,516 (GRCm39)	S493N	probably benign	Het
Cox20	A	T	1: 178,146,771 (GRCm39)	K13*	probably null	Het
Dclk1	G	A	3: 55,370,500 (GRCm39)	S340N	probably damaging	Het
Dennd2c	T	A	3: 103,038,877 (GRCm39)	D8E	probably benign	Het
Dock7	T	A	4: 98,896,280 (GRCm39)	I58F		Het
Dpy19l4	A	G	4: 11,304,298 (GRCm39)		probably null	Het
Eef2k	A	G	7: 120,483,918 (GRCm39)	D218G	probably benign	Het
Eya4	G	T	10: 22,989,845 (GRCm39)	T504K	probably damaging	Het
Fam222a	T	C	5: 114,749,398 (GRCm39)	I198T	probably damaging	Het
Fbxw10	T	A	11: 62,748,585 (GRCm39)	F404Y	probably benign	Het
Fbxw24	A	T	9: 109,452,681 (GRCm39)	Y105N	probably damaging	Het
Fzd10	T	G	5: 128,678,316 (GRCm39)	L12R	possibly damaging	Het
Gm14443	A	G	2: 175,017,610 (GRCm39)		probably benign	Het
Gm21028	A	T	7: 42,227,904 (GRCm39)	C37S	probably damaging	Het
Gpr179	G	T	11: 97,229,551 (GRCm39)	A868E	probably damaging	Het
Greb1l	T	A	18: 10,532,796 (GRCm39)	Y897N	possibly damaging	Het
Grid1	A	T	14: 35,045,360 (GRCm39)	Y401F	probably benign	Het
Heatr5a	G	A	12: 51,946,068 (GRCm39)	T1181I	probably benign	Het
Herc4	G	A	10: 63,144,125 (GRCm39)	V753I	probably damaging	Het
Htra1	A	T	7: 130,563,851 (GRCm39)	K241*	probably null	Het
Kat6b	A	G	14: 21,720,093 (GRCm39)	I1482V	probably benign	Het
Kif19a	G	T	11: 114,680,033 (GRCm39)	R790L	possibly damaging	Het
Lmf2	G	A	15: 89,239,577 (GRCm39)	L26F	probably damaging	Het
Lpcat1	T	C	13: 73,659,462 (GRCm39)	L408S	probably damaging	Het
Lrrc69	T	A	4: 14,774,987 (GRCm39)	R94W	probably damaging	Het
Map4	A	G	9: 109,864,223 (GRCm39)	T483A	probably benign	Het
Mettl3	C	A	14: 52,534,125 (GRCm39)	C483F	probably damaging	Het
Myh13	A	G	11: 67,254,109 (GRCm39)	D1543G	possibly damaging	Het
Myh2	G	A	11: 67,070,209 (GRCm39)	V414I	probably damaging	Het
Myh7b	C	T	2: 155,470,722 (GRCm39)	R1057C	probably damaging	Het
Myo9b	A	G	8: 71,812,246 (GRCm39)	S2006G	probably benign	Het
Nelfcd	A	G	2: 174,264,978 (GRCm39)	K239R	probably benign	Het
Nlrp4a	T	C	7: 26,159,077 (GRCm39)	S786P	probably damaging	Het
Or5g23	T	A	2: 85,438,331 (GRCm39)	K308*	probably null	Het
Or6c205	A	G	10: 129,086,972 (GRCm39)	T190A	probably damaging	Het
Pdzrn4	G	T	15: 92,295,216 (GRCm39)	V141L	probably benign	Het
Phip	G	T	9: 82,757,412 (GRCm39)	R1587S	probably damaging	Het
Plce1	A	G	19: 38,726,377 (GRCm39)	E1448G	probably damaging	Het
Plrg1	T	C	3: 82,976,308 (GRCm39)	S326P	possibly damaging	Het
Pom121l2	T	A	13: 22,165,852 (GRCm39)	V41E	probably damaging	Het
Pramel17	C	T	4: 101,695,144 (GRCm39)	V56M	probably damaging	Het
Preb	G	T	5: 31,113,673 (GRCm39)	S311*	probably null	Het
Prss33	T	A	17: 24,053,723 (GRCm39)	D118V	probably damaging	Het
Pum1	C	A	4: 130,499,209 (GRCm39)	Y1008*	probably null	Het
Rassf2	G	A	2: 131,846,326 (GRCm39)	R144C	probably damaging	Het
Rnf123	A	T	9: 107,944,704 (GRCm39)	M429K	probably benign	Het
Rtl1	T	A	12: 109,557,291 (GRCm39)	H1516L	probably benign	Het
Scyl3	T	A	1: 163,764,007 (GRCm39)	N124K	probably damaging	Het
Sec24b	A	G	3: 129,801,220 (GRCm39)	S488P	probably benign	Het
Shc4	T	A	2: 125,520,618 (GRCm39)	D277V	probably damaging	Het
Sorl1	T	A	9: 41,912,814 (GRCm39)	D1389V	probably damaging	Het
Srcap	T	A	7: 127,158,812 (GRCm39)	I2896N	unknown	Het
Steap3	T	A	1: 120,155,564 (GRCm39)	Y465F	probably benign	Het
Tecta	C	A	9: 42,284,193 (GRCm39)	C964F	probably damaging	Het
Thap1	AGCAGCATCTGCTCG	AG	8: 26,650,882 (GRCm39)		probably null	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,650,884 (GRCm39)		probably null	Het
Tmem178b	G	A	6: 39,981,181 (GRCm39)	W72*	probably null	Het
Tmem235	T	G	11: 117,751,665 (GRCm39)	Y30D	probably damaging	Het
Tpst1	C	A	5: 130,163,301 (GRCm39)	T366K	probably benign	Het
Trdv2-1	C	A	14: 54,183,848 (GRCm39)	P27T	probably benign	Het
Trim37	G	T	11: 87,058,328 (GRCm39)	L335F	possibly damaging	Het
Usp9y	G	A	Y: 1,341,873 (GRCm39)	R1331W	probably damaging	Het
Vmn1r1	T	G	1: 181,985,002 (GRCm39)	H221P	probably damaging	Het
Vmn2r6	A	T	3: 64,454,671 (GRCm39)	S543T	probably benign	Het
Wdpcp	C	T	11: 21,661,522 (GRCm39)	P265S	probably benign	Het
Wdr64	T	C	1: 175,599,871 (GRCm39)	L566P	possibly damaging	Het
Zfp248	A	G	6: 118,405,891 (GRCm39)	I566T	possibly damaging	Het
Zfp595	T	A	13: 67,465,463 (GRCm39)	I270F	probably damaging	Het
Zfp715	A	G	7: 42,948,847 (GRCm39)	L371P	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
R4772:Dnajc10	UTSW	2	80,170,870 (GRCm39)	missense	probably damaging	0.98
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
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'- TGGTCACACTTTCCTCTAGGATACC -3'
(R):5'- ATCCCCTGGTTTCACAGTGAC -3'

Sequencing Primer
(F):5'- AGGATACCTCTTTTTCCAGCTTACAG -3'
(R):5'- CTGTGAAGCAAACACTGGC -3'

Posted On

2022-04-18