Mutagenetix > Incidental Mutation

Incidental Mutation 'R9344:Dnajc1'

707659

Institutional Source

Beutler Lab

Gene Symbol

Dnajc1

Ensembl Gene

ENSMUSG00000026740

Gene Name

DnaJ heat shock protein family (Hsp40) member C1

Synonyms

4733401K02Rik, MTJ1, Dnajl1, D230036H06Rik, ERdj1

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

R9344 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

18195654-18392830 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 18284775 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 274 (V274I)

Ref Sequence

ENSEMBL: ENSMUSP00000088980 (fasta)

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 benign
Transcript: ENSMUST00000091418
AA Change: V274I

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000088980
Gene: ENSMUSG00000026740
AA Change: V274I

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

silent
Transcript: ENSMUST00000164835

Predicted Effect

probably benign
Transcript: ENSMUST00000166495
AA Change: V274I

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000126321
Gene: ENSMUSG00000026740
AA Change: V274I

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

SMART Domains

Protein: ENSMUSP00000126716
Gene: ENSMUSG00000026740
AA Change: V78I

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

Meta Mutation Damage Score

0.0605

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (57/57)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930453N24Rik	A	G	16: 64,770,772	V31A	possibly damaging	Het
Adss	A	G	1: 177,769,961	Y378H	probably damaging	Het
Aldh1a1	T	A	19: 20,630,786	V324D	probably damaging	Het
Ankrd33b	A	G	15: 31,297,757	S285P	probably damaging	Het
Arel1	C	T	12: 84,934,597	G269S	probably damaging	Het
Arhgap44	A	G	11: 65,162,637	M1T	probably null	Het
Arpin	C	T	7: 79,928,235	V149I	probably benign	Het
Arpp21	A	G	9: 112,185,652	L28P	possibly damaging	Het
Ccdc129	C	T	6: 55,978,485	T1026I	probably benign	Het
Ccr8	G	A	9: 120,094,067	V83I	probably damaging	Het
Cnksr1	T	C	4: 134,236,197	E58G	probably damaging	Het
Dctn2	T	A	10: 127,278,215	H341Q	probably damaging	Het
Ddx21	C	A	10: 62,593,046	A362S	possibly damaging	Het
Dock3	A	C	9: 106,993,564	C550W	probably damaging	Het
Dst	T	C	1: 34,181,595	L2160S	probably damaging	Het
Duox1	T	A	2: 122,337,682	M1096K	probably benign	Het
Dync2h1	A	T	9: 7,148,659	D928E	probably benign	Het
E030025P04Rik	C	T	11: 109,139,628		probably null	Het
Eid2b	T	C	7: 28,278,166	M129T	possibly damaging	Het
Fnip2	G	A	3: 79,500,410	S288F	possibly damaging	Het
Grm4	G	T	17: 27,434,763	R738S	probably benign	Het
Gsto2	A	G	19: 47,876,445	D139G	probably benign	Het
Herc2	T	A	7: 56,122,364	V1097E	probably benign	Het
Impg1	G	A	9: 80,404,758	A181V	probably benign	Het
Irs2	G	T	8: 11,007,289	S381*	probably null	Het
Lrrd1	A	C	5: 3,858,819	D697A	possibly damaging	Het
Nat10	A	G	2: 103,743,115	S346P	probably damaging	Het
Ncapg2	G	A	12: 116,424,653	R319H	probably damaging	Het
Nid1	A	G	13: 13,478,309	Y568C	probably damaging	Het
Noc2l	G	A	4: 156,240,673	C325Y	probably damaging	Het
Olfr1121	A	T	2: 87,371,817	D95V	possibly damaging	Het
Olfr23	C	A	11: 73,940,918	S224Y	possibly damaging	Het
Pde2a	G	T	7: 101,495,684	V169F	possibly damaging	Het
Pon3	T	C	6: 5,221,586	K348R	probably benign	Het
Ppp6c	A	G	2: 39,200,040		probably null	Het
Prrc2b	G	A	2: 32,213,588	G1026D	probably benign	Het
Psg22	A	T	7: 18,726,891	T482S	possibly damaging	Het
Rdh19	G	A	10: 127,856,871	V136M	probably damaging	Het
Sbf2	T	A	7: 110,341,328	N1275I	probably benign	Het
Sema4c	T	C	1: 36,553,314	N182D	probably damaging	Het
Slc7a12	T	A	3: 14,505,431	H414Q	probably damaging	Het
Slitrk5	A	G	14: 111,679,270	I109V	probably damaging	Het
Spag17	C	T	3: 100,103,477	P2096S	probably benign	Het
Steap1	T	A	5: 5,736,459	D326V	probably damaging	Het
Tacr1	C	T	6: 82,403,866	T86I	probably damaging	Het
Tenm4	C	T	7: 96,896,145	T2493I	probably damaging	Het
Tet2	A	G	3: 133,469,354	S1411P	possibly damaging	Het
Tom1	C	T	8: 75,058,448	R303C	probably damaging	Het
Trav7n-4	T	A	14: 53,091,743	I70N	possibly damaging	Het
Utrn	A	C	10: 12,684,531	V1338G	probably benign	Het
Vipr1	G	A	9: 121,642,927		probably null	Het
Vmn1r122	A	T	7: 21,133,346	H261Q	probably benign	Het
Vmn1r40	G	T	6: 89,714,253	L17F	probably benign	Het
Vmn2r54	A	G	7: 12,632,356	V217A	probably benign	Het
Vmn2r55	C	A	7: 12,651,855	G733*	probably null	Het
Vmn2r98	A	T	17: 19,066,515	N425I	probably benign	Het
Vps51	C	T	19: 6,076,315	V136I	unknown	Het
Zfp184	T	C	13: 21,960,241	C706R	probably damaging	Het

Other mutations in Dnajc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00491:Dnajc1	APN	2	18308902	missense	possibly damaging	0.80
IGL01301:Dnajc1	APN	2	18308834	missense	probably damaging	0.99
IGL02080:Dnajc1	APN	2	18316348	intron	probably benign
IGL03058:Dnajc1	APN	2	18217321	missense	possibly damaging	0.90
ANU18:Dnajc1	UTSW	2	18308834	missense	probably damaging	0.99
R0537:Dnajc1	UTSW	2	18307956	missense	possibly damaging	0.63
R0630:Dnajc1	UTSW	2	18231801	missense	probably damaging	1.00
R1187:Dnajc1	UTSW	2	18284709	missense	probably benign	0.01
R1511:Dnajc1	UTSW	2	18222727	missense	possibly damaging	0.88
R1844:Dnajc1	UTSW	2	18294027	nonsense	probably null
R1848:Dnajc1	UTSW	2	18219713	missense	probably damaging	1.00
R2174:Dnajc1	UTSW	2	18307951	missense	probably damaging	0.99
R2199:Dnajc1	UTSW	2	18308899	missense	probably damaging	1.00
R2211:Dnajc1	UTSW	2	18392475	missense	probably damaging	0.99
R2471:Dnajc1	UTSW	2	18219816	missense	possibly damaging	0.75
R4758:Dnajc1	UTSW	2	18308946	nonsense	probably null
R5790:Dnajc1	UTSW	2	18307087	intron	probably benign
R5802:Dnajc1	UTSW	2	18284739	missense	probably benign	0.41
R5950:Dnajc1	UTSW	2	18306941	intron	probably benign
R6049:Dnajc1	UTSW	2	18231700	splice site	probably null
R6770:Dnajc1	UTSW	2	18217271	unclassified	probably benign
R7242:Dnajc1	UTSW	2	18293972	missense	probably benign	0.06
R7462:Dnajc1	UTSW	2	18308899	missense	probably damaging	0.99
R7716:Dnajc1	UTSW	2	18219873	missense	probably benign	0.00
R7846:Dnajc1	UTSW	2	18219893	missense	possibly damaging	0.56
R7963:Dnajc1	UTSW	2	18222724	missense	possibly damaging	0.66
R8750:Dnajc1	UTSW	2	18308834	missense	probably damaging	0.99
R8967:Dnajc1	UTSW	2	18308946	nonsense	probably null
Z1176:Dnajc1	UTSW	2	18293987	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- GGATTTGATCTCCATGCAGCTC -3'
(R):5'- TAAATAATGCAGTGGTCAGTGAGC -3'

Sequencing Primer
(F):5'- GATCTCCATGCAGCTCCTTAAATC -3'
(R):5'- CAGTGGTCAGTGAGCAATATTG -3'

Posted On

2022-04-18