Mutagenetix > Incidental Mutation

Incidental Mutation 'R7181:Dnajc10'

558959

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

045270-MU

Accession Numbers

Essential gene?

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

Stock #

R7181 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80145810-80184387 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to G at 80149587 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 96 (Y96*)

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 null
Transcript: ENSMUST00000028392
AA Change: Y96*

SMART Domains

Protein: ENSMUSP00000028392
Gene: ENSMUSG00000027006
AA Change: Y96*

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: 99.6%
20x: 98.9%

Validation Efficiency

98% (62/63)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	A	G	17: 57,188,037 (GRCm39)	N182D	probably benign	Het
Adgrl1	A	G	8: 84,652,878 (GRCm39)		probably null	Het
Adm	T	C	7: 110,228,236 (GRCm39)	I139T	probably damaging	Het
Ahnak	A	T	19: 8,990,852 (GRCm39)	K4045N	probably damaging	Het
Axin1	T	A	17: 26,392,752 (GRCm39)	S344R	probably damaging	Het
Cacna1g	T	C	11: 94,306,691 (GRCm39)	S1896G	probably benign	Het
Cd209c	A	G	8: 3,995,712 (GRCm39)	V30A	probably benign	Het
Cd86	CA	CAA	16: 36,426,917 (GRCm39)		probably null	Het
Cdh8	A	T	8: 99,825,557 (GRCm39)	M520K	probably benign	Het
Cyp2b23	G	A	7: 26,373,828 (GRCm39)	T306I	probably damaging	Het
Eif1ad14	G	A	12: 87,886,492 (GRCm39)	R46W	possibly damaging	Het
Elmod1	A	C	9: 53,841,382 (GRCm39)		probably null	Het
Eva1b	A	G	4: 126,043,446 (GRCm39)	H162R	possibly damaging	Het
Fam222b	A	T	11: 78,045,804 (GRCm39)	N455I	probably damaging	Het
Fer1l6	G	A	15: 58,447,146 (GRCm39)	A626T	probably benign	Het
Fgd6	A	G	10: 93,879,373 (GRCm39)	T76A	probably benign	Het
Fndc7	A	G	3: 108,788,640 (GRCm39)		probably null	Het
Gabrg2	T	A	11: 41,811,261 (GRCm39)	I295F	probably damaging	Het
Gm10406	A	T	14: 7,027,359 (GRCm38)		probably null	Het
Gm47189	T	C	14: 41,492,059 (GRCm39)	M73V	probably benign	Het
Gm9758	A	T	5: 14,963,667 (GRCm39)	S54T	probably damaging	Het
Gm9857	A	G	3: 108,847,554 (GRCm39)	S70P	unknown	Het
Gsap	A	T	5: 21,458,427 (GRCm39)	E470D	probably damaging	Het
Hesx1	T	A	14: 26,722,678 (GRCm39)	M1K	probably null	Het
Hirip3	A	G	7: 126,463,235 (GRCm39)	D397G	probably damaging	Het
Kalrn	T	A	16: 33,983,447 (GRCm39)	N13I	probably benign	Het
Mettl8	A	T	2: 70,803,706 (GRCm39)	S194T	possibly damaging	Het
Mrps35	T	G	6: 146,957,491 (GRCm39)		probably null	Het
Myrfl	G	T	10: 116,697,448 (GRCm39)	N25K	probably damaging	Het
Or51b6b	C	A	7: 103,310,020 (GRCm39)	G146C	probably damaging	Het
Or7a41	A	G	10: 78,871,287 (GRCm39)	Y219C	probably damaging	Het
Or9k2b	A	T	10: 130,016,626 (GRCm39)	I41N	possibly damaging	Het
Phf14	A	T	6: 11,933,340 (GRCm39)	E67D	unknown	Het
Prdm16	C	T	4: 154,613,094 (GRCm39)	G111D	probably damaging	Het
Prex1	G	A	2: 166,412,291 (GRCm39)	A1568V	probably damaging	Het
Ptpn23	G	A	9: 110,214,325 (GRCm39)	T1692I	unknown	Het
Ptprb	C	T	10: 116,204,671 (GRCm39)	S1835L	probably damaging	Het
Rbm19	G	A	5: 120,254,532 (GRCm39)		probably benign	Het
Rgs7bp	T	A	13: 105,119,382 (GRCm39)	H152L	possibly damaging	Het
Rmdn3	A	T	2: 118,969,849 (GRCm39)	L404Q	probably damaging	Het
Rock2	T	A	12: 17,023,144 (GRCm39)	F1148I	probably benign	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Sec24c	C	A	14: 20,739,401 (GRCm39)	H559N	probably damaging	Het
Sephs2	T	C	7: 126,872,992 (GRCm39)	S34G	probably benign	Het
Serpina6	A	T	12: 103,613,203 (GRCm39)	S366T	probably benign	Het
Serpinb7	A	T	1: 107,378,052 (GRCm39)	E248D	probably benign	Het
Sesn1	G	T	10: 41,779,724 (GRCm39)	R386L	possibly damaging	Het
Skida1	T	C	2: 18,051,602 (GRCm39)	S430G	unknown	Het
Slc28a2	A	T	2: 122,282,462 (GRCm39)		probably null	Het
Slc39a8	T	C	3: 135,563,299 (GRCm39)	F203S	possibly damaging	Het
Svip	A	G	7: 51,653,177 (GRCm39)	S46P	possibly damaging	Het
Tbx21	T	A	11: 96,989,923 (GRCm39)	D423V	probably benign	Het
Tcirg1	G	A	19: 3,953,576 (GRCm39)	A117V	probably null	Het
Tmem63b	T	A	17: 45,984,094 (GRCm39)	K258N	probably benign	Het
Tmem94	A	G	11: 115,685,600 (GRCm39)	N951S	probably damaging	Het
Uba2	G	T	7: 33,840,854 (GRCm39)	D591E	probably benign	Het
Unc13b	C	T	4: 43,258,893 (GRCm39)	R1356W	probably damaging	Het
Wasf3	A	G	5: 146,403,615 (GRCm39)	T242A	probably benign	Het
Wscd1	T	C	11: 71,650,709 (GRCm39)	L12P	probably damaging	Het
Zfp770	T	C	2: 114,027,872 (GRCm39)	K66E	probably damaging	Het
Zfyve26	A	T	12: 79,315,182 (GRCm39)	D1431E	probably benign	Het
Zhx2	G	A	15: 57,686,746 (GRCm39)	R705H	probably benign	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
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'- TGCCGAGACTCACACTTTCC -3'
(R):5'- TCATACTAAGAAAGACTTGAGGTGG -3'

Sequencing Primer
(F):5'- CTAGTATTCAGGGATCGCTGGAATC -3'
(R):5'- CTTGAGGTGGGGAGACAGCC -3'

Posted On

2019-06-26