Mutagenetix > Incidental Mutation

Incidental Mutation 'R1844:Dnajc1'

207506

Institutional Source

Beutler Lab

Gene Symbol

Dnajc1

Ensembl Gene

ENSMUSG00000026740

Gene Name

DnaJ heat shock protein family (Hsp40) member C1

Synonyms

MTJ1, Dnajl1, ERdj1, D230036H06Rik, 4733401K02Rik

MMRRC Submission

039869-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R1844 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

18210445-18402025 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to C at 18298838 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 49 (Y49*)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028072] [ENSMUST00000091418] [ENSMUST00000166495]

AlphaFold

Q61712

Predicted Effect

probably benign
Transcript: ENSMUST00000028072

SMART Domains

Protein: ENSMUSP00000028072
Gene: ENSMUSG00000026740

Domain	Start	End	E-Value	Type
signal peptide	1	43	N/A	INTRINSIC
DnaJ	60	104	5.4e-10	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000091418
AA Change: Y245*

SMART Domains

Protein: ENSMUSP00000088980
Gene: ENSMUSG00000026740
AA Change: Y245*

Domain	Start	End	E-Value	Type
signal peptide	1	43	N/A	INTRINSIC
DnaJ	60	117	5.73e-23	SMART
transmembrane domain	149	171	N/A	INTRINSIC
low complexity region	177	194	N/A	INTRINSIC
low complexity region	269	281	N/A	INTRINSIC
SANT	324	375	2.06e-6	SMART
low complexity region	416	434	N/A	INTRINSIC
low complexity region	438	451	N/A	INTRINSIC
SANT	491	543	3.56e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000163130

SMART Domains

Protein: ENSMUSP00000129176
Gene: ENSMUSG00000026740

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
DnaJ	34	78	5.4e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000164835

Predicted Effect

probably null
Transcript: ENSMUST00000166495
AA Change: Y245*

SMART Domains

Protein: ENSMUSP00000126321
Gene: ENSMUSG00000026740
AA Change: Y245*

Domain	Start	End	E-Value	Type
signal peptide	1	43	N/A	INTRINSIC
DnaJ	60	117	5.73e-23	SMART
transmembrane domain	149	171	N/A	INTRINSIC
low complexity region	177	194	N/A	INTRINSIC
low complexity region	269	281	N/A	INTRINSIC
SANT	324	375	2.06e-6	SMART
low complexity region	416	434	N/A	INTRINSIC
low complexity region	438	451	N/A	INTRINSIC
SANT	491	543	3.56e-10	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000168723
AA Change: Y49*

SMART Domains

Protein: ENSMUSP00000126716
Gene: ENSMUSG00000026740
AA Change: Y49*

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
low complexity region	74	86	N/A	INTRINSIC
SANT	129	180	2.06e-6	SMART
low complexity region	221	239	N/A	INTRINSIC
low complexity region	243	256	N/A	INTRINSIC
SANT	296	348	3.56e-10	SMART

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.2%
20x: 92.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The membrane protein encoded by this gene is a DNAJ-like heat shock protein that binds the molecular chaperone BiP. In addition, the encoded protein contains two SANT domains that have been shown to bind serpin alpha1-antichymotrypsin and inter-alpha trypsin inhibitor heavy chain 4. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco1	A	G	4: 40,197,566 (GRCm39)	K857E	probably benign	Het
Adam20	A	G	8: 41,249,080 (GRCm39)	N397D	probably benign	Het
Adgrf3	T	G	5: 30,404,211 (GRCm39)	D347A	probably damaging	Het
Ang6	C	T	14: 44,239,330 (GRCm39)	E133K	possibly damaging	Het
Arhgap23	T	A	11: 97,354,234 (GRCm39)	W205R	probably damaging	Het
Arhgef40	C	A	14: 52,235,080 (GRCm39)	R1086S	probably damaging	Het
Atr	G	T	9: 95,787,870 (GRCm39)	A1488S	probably benign	Het
Cabin1	A	T	10: 75,579,184 (GRCm39)		probably null	Het
Cby2	C	T	14: 75,820,850 (GRCm39)	V292I	probably benign	Het
Cdh22	A	C	2: 164,985,614 (GRCm39)	F324C	probably damaging	Het
Cep350	T	C	1: 155,724,374 (GRCm39)	I3075V	probably damaging	Het
Chd9	A	T	8: 91,683,323 (GRCm39)	K588*	probably null	Het
Clns1a	A	T	7: 97,346,066 (GRCm39)	I44F	probably damaging	Het
Colgalt1	T	C	8: 72,063,995 (GRCm39)	I51T	possibly damaging	Het
Cpt2	C	T	4: 107,761,452 (GRCm39)	E217K	possibly damaging	Het
Ctss	A	G	3: 95,454,105 (GRCm39)		probably null	Het
Cyp1a1	A	G	9: 57,609,980 (GRCm39)	T465A	probably benign	Het
Dbn1	A	G	13: 55,629,160 (GRCm39)		probably null	Het
Dennd1b	A	G	1: 139,018,143 (GRCm39)		probably null	Het
Dock10	T	A	1: 80,520,918 (GRCm39)	I1188L	probably damaging	Het
Dsg1c	T	G	18: 20,416,096 (GRCm39)		probably null	Het
Efcab6	G	A	15: 83,851,822 (GRCm39)	T352I	possibly damaging	Het
Eps8l3	T	C	3: 107,786,902 (GRCm39)	L26P	possibly damaging	Het
Fbxw26	A	G	9: 109,553,946 (GRCm39)	V231A	probably benign	Het
Fetub	G	A	16: 22,754,419 (GRCm39)	E209K	possibly damaging	Het
Galc	A	T	12: 98,212,556 (GRCm39)		probably null	Het
Gm6871	A	T	7: 41,222,892 (GRCm39)	N65K	probably benign	Het
Gstp3	A	G	19: 4,107,540 (GRCm39)	I208T	probably benign	Het
Gtpbp3	A	G	8: 71,945,272 (GRCm39)	Y448C	probably benign	Het
Hdac7	G	T	15: 97,705,857 (GRCm39)	Q385K	probably damaging	Het
Hemgn	C	T	4: 46,396,655 (GRCm39)	V194M	possibly damaging	Het
Idh2	G	C	7: 79,748,625 (GRCm39)	T113R	probably benign	Het
Jarid2	A	C	13: 45,056,219 (GRCm39)	K336T	possibly damaging	Het
Kcnj4	C	T	15: 79,369,216 (GRCm39)	V255M	probably damaging	Het
Ldhb	C	A	6: 142,439,934 (GRCm39)	W202L	probably damaging	Het
Lmbrd2	T	A	15: 9,177,838 (GRCm39)	Y512*	probably null	Het
Lrp1	A	G	10: 127,431,152 (GRCm39)		probably null	Het
Map3k12	G	A	15: 102,411,970 (GRCm39)	P365S	probably damaging	Het
Map3k5	G	A	10: 19,979,909 (GRCm39)	D806N	probably benign	Het
Matn3	A	G	12: 9,017,662 (GRCm39)	E438G	possibly damaging	Het
Mcmbp	G	A	7: 128,325,698 (GRCm39)	L97F	probably damaging	Het
Mmp3	A	T	9: 7,453,662 (GRCm39)	I428L	probably benign	Het
Mphosph8	T	C	14: 56,934,616 (GRCm39)	V855A	probably damaging	Het
Mycbp2	T	A	14: 103,393,150 (GRCm39)	H3027L	possibly damaging	Het
Nbea	C	T	3: 55,989,857 (GRCm39)	R333H	probably damaging	Het
Notch1	G	T	2: 26,350,446 (GRCm39)	H2231Q	probably benign	Het
Npas2	A	T	1: 39,364,456 (GRCm39)	H266L	probably damaging	Het
Oas3	A	G	5: 120,898,045 (GRCm39)	S833P	probably damaging	Het
Or1j15	T	C	2: 36,458,789 (GRCm39)	Y60H	probably damaging	Het
Or5ak24	T	C	2: 85,260,265 (GRCm39)	T303A	probably benign	Het
Or5w17	A	C	2: 87,584,334 (GRCm39)	M1R	probably null	Het
Or6c65	G	A	10: 129,603,725 (GRCm39)	R120H	probably benign	Het
Pak4	C	T	7: 28,264,690 (GRCm39)	V71I	possibly damaging	Het
Pitpnm1	T	C	19: 4,162,395 (GRCm39)	V1075A	probably damaging	Het
Pkp3	G	A	7: 140,668,415 (GRCm39)	V555M	probably damaging	Het
Plekhm2	T	C	4: 141,359,685 (GRCm39)	T381A	probably benign	Het
Plppr3	A	G	10: 79,702,244 (GRCm39)		probably null	Het
Ppp2r5e	A	T	12: 75,516,540 (GRCm39)	F216I	possibly damaging	Het
Ppp3ca	T	A	3: 136,627,672 (GRCm39)	V412D	probably benign	Het
Prss50	A	G	9: 110,687,081 (GRCm39)		probably benign	Het
Psph	A	C	5: 129,843,532 (GRCm39)	I174R	probably damaging	Het
Ptov1	A	G	7: 44,514,991 (GRCm39)	Y207H	possibly damaging	Het
Ptprs	A	G	17: 56,741,510 (GRCm39)	S585P	probably damaging	Het
Rnf146	A	T	10: 29,223,720 (GRCm39)	H55Q	probably damaging	Het
Rnf213	T	A	11: 119,332,009 (GRCm39)	M2407K	probably damaging	Het
Rnls	A	C	19: 33,179,931 (GRCm39)	L55R	possibly damaging	Het
Rptor	T	C	11: 119,647,146 (GRCm39)	C246R	probably damaging	Het
Rrp12	C	T	19: 41,866,222 (GRCm39)		probably null	Het
Samd3	A	G	10: 26,127,672 (GRCm39)	D223G	probably damaging	Het
Sdad1	G	A	5: 92,453,155 (GRCm39)	Q68*	probably null	Het
Selenov	G	A	7: 27,989,847 (GRCm39)	T219M	probably damaging	Het
Shd	A	G	17: 56,278,554 (GRCm39)	D39G	possibly damaging	Het
Slc26a10	A	T	10: 127,014,279 (GRCm39)	V245E	probably damaging	Het
Slit1	A	G	19: 41,614,012 (GRCm39)	L820P	probably damaging	Het
Snap23	T	C	2: 120,421,163 (GRCm39)	F96L	probably benign	Het
Speer1k	T	C	5: 10,998,994 (GRCm39)		probably benign	Het
Spef1l	A	T	7: 139,556,005 (GRCm39)	I212N	probably benign	Het
Stkld1	A	G	2: 26,840,115 (GRCm39)	H395R	probably damaging	Het
Syt13	G	A	2: 92,771,165 (GRCm39)	G84D	probably damaging	Het
Terb2	T	A	2: 122,016,990 (GRCm39)	L37Q	probably damaging	Het
Themis	A	G	10: 28,657,753 (GRCm39)	Y107C	probably damaging	Het
Top2a	T	A	11: 98,906,895 (GRCm39)	T249S	probably benign	Het
Tspo2	A	T	17: 48,756,148 (GRCm39)	F71Y	probably damaging	Het
Ttc21b	T	A	2: 66,053,921 (GRCm39)	K753*	probably null	Het
Ttk	A	G	9: 83,736,915 (GRCm39)	Y458C	possibly damaging	Het
Ttn	T	C	2: 76,586,017 (GRCm39)	R21905G	probably damaging	Het
Ugt3a1	T	A	15: 9,351,254 (GRCm39)	F88I	probably benign	Het
Vmn1r119	A	G	7: 20,746,121 (GRCm39)	L87P	probably damaging	Het
Vmn1r36	A	G	6: 66,693,747 (GRCm39)	F6L	probably benign	Het
Vmn2r15	T	A	5: 109,434,860 (GRCm39)	K615*	probably null	Het
Wdr18	G	A	10: 79,802,561 (GRCm39)		probably null	Het
Wdr6	A	T	9: 108,453,176 (GRCm39)	W236R	probably damaging	Het
Zbtb48	T	C	4: 152,110,955 (GRCm39)	T187A	probably benign	Het

Other mutations in Dnajc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00491:Dnajc1	APN	2	18,313,713 (GRCm39)	missense	possibly damaging	0.80
IGL01301:Dnajc1	APN	2	18,313,645 (GRCm39)	missense	probably damaging	0.99
IGL02080:Dnajc1	APN	2	18,321,159 (GRCm39)	intron	probably benign
IGL03058:Dnajc1	APN	2	18,222,132 (GRCm39)	missense	possibly damaging	0.90
ANU18:Dnajc1	UTSW	2	18,313,645 (GRCm39)	missense	probably damaging	0.99
R0537:Dnajc1	UTSW	2	18,312,767 (GRCm39)	missense	possibly damaging	0.63
R0630:Dnajc1	UTSW	2	18,236,612 (GRCm39)	missense	probably damaging	1.00
R1187:Dnajc1	UTSW	2	18,289,520 (GRCm39)	missense	probably benign	0.01
R1511:Dnajc1	UTSW	2	18,227,538 (GRCm39)	missense	possibly damaging	0.88
R1848:Dnajc1	UTSW	2	18,224,524 (GRCm39)	missense	probably damaging	1.00
R2174:Dnajc1	UTSW	2	18,312,762 (GRCm39)	missense	probably damaging	0.99
R2199:Dnajc1	UTSW	2	18,313,710 (GRCm39)	missense	probably damaging	1.00
R2211:Dnajc1	UTSW	2	18,397,286 (GRCm39)	missense	probably damaging	0.99
R2471:Dnajc1	UTSW	2	18,224,627 (GRCm39)	missense	possibly damaging	0.75
R4758:Dnajc1	UTSW	2	18,313,757 (GRCm39)	nonsense	probably null
R5790:Dnajc1	UTSW	2	18,311,898 (GRCm39)	intron	probably benign
R5802:Dnajc1	UTSW	2	18,289,550 (GRCm39)	missense	probably benign	0.41
R5950:Dnajc1	UTSW	2	18,311,752 (GRCm39)	intron	probably benign
R6049:Dnajc1	UTSW	2	18,236,511 (GRCm39)	splice site	probably null
R6770:Dnajc1	UTSW	2	18,222,082 (GRCm39)	unclassified	probably benign
R7242:Dnajc1	UTSW	2	18,298,783 (GRCm39)	missense	probably benign	0.06
R7462:Dnajc1	UTSW	2	18,313,710 (GRCm39)	missense	probably damaging	0.99
R7716:Dnajc1	UTSW	2	18,224,684 (GRCm39)	missense	probably benign	0.00
R7846:Dnajc1	UTSW	2	18,224,704 (GRCm39)	missense	possibly damaging	0.56
R7963:Dnajc1	UTSW	2	18,227,535 (GRCm39)	missense	possibly damaging	0.66
R8750:Dnajc1	UTSW	2	18,313,645 (GRCm39)	missense	probably damaging	0.99
R8967:Dnajc1	UTSW	2	18,313,757 (GRCm39)	nonsense	probably null
R9344:Dnajc1	UTSW	2	18,289,586 (GRCm39)	missense	probably benign	0.01
Z1176:Dnajc1	UTSW	2	18,298,798 (GRCm39)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- TGAGTCCGTTGGAAAATGGC -3'
(R):5'- ATTTTGGACTTAGTTCTCCAGGAG -3'

Sequencing Primer
(F):5'- TCCGTTGGAAAATGGCAAAGAAAAC -3'
(R):5'- ACGTTACAGAGAAGTTTTGTTCAGG -3'

Posted On

2014-06-23