Mutagenetix > Incidental Mutation

Incidental Mutation 'R2174:Dnajc1'

237667

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

040176-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

R2174 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18210445-18402025 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 18312762 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 196 (D196G)

Ref Sequence

ENSEMBL: ENSMUSP00000126321 (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 damaging
Transcript: ENSMUST00000091418
AA Change: D196G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000088980
Gene: ENSMUSG00000026740
AA Change: D196G

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

noncoding transcript
Transcript: ENSMUST00000153055

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

noncoding transcript
Transcript: ENSMUST00000164606

Predicted Effect

probably benign
Transcript: ENSMUST00000164835

Predicted Effect

probably damaging
Transcript: ENSMUST00000166495
AA Change: D196G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000126321
Gene: ENSMUSG00000026740
AA Change: D196G

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: ENSMUST00000168723

SMART Domains

Protein: ENSMUSP00000126716
Gene: ENSMUSG00000026740

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

0.2490

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

99% (73/74)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600014C10Rik	T	C	7: 37,894,252 (GRCm39)	I95T	possibly damaging	Het
Adarb1	A	G	10: 77,131,632 (GRCm39)	I619T	probably benign	Het
Aldh2	T	C	5: 121,710,731 (GRCm39)		probably benign	Het
Antxrl	T	A	14: 33,782,357 (GRCm39)	L180Q	probably damaging	Het
Asnsd1	A	T	1: 53,386,760 (GRCm39)	I289N	probably benign	Het
Asxl3	T	G	18: 22,586,701 (GRCm39)	S164A	possibly damaging	Het
Cacnb2	C	T	2: 14,963,578 (GRCm39)	T108I	probably benign	Het
Capn2	A	T	1: 182,307,290 (GRCm39)	I516N	probably benign	Het
Ccdc59	A	T	10: 105,677,388 (GRCm39)	K9M	possibly damaging	Het
Cenpo	T	C	12: 4,267,318 (GRCm39)	K73R	probably benign	Het
Cfap20dc	T	C	14: 8,558,109 (GRCm38)	I159V	probably benign	Het
Clasp1	A	G	1: 118,487,825 (GRCm39)	H823R	probably damaging	Het
Col6a4	T	C	9: 105,937,331 (GRCm39)	D1395G	probably damaging	Het
Ddx60	A	G	8: 62,409,175 (GRCm39)	I404V	probably damaging	Het
Ddx60	G	T	8: 62,470,234 (GRCm39)	M1407I	probably benign	Het
Dennd3	A	T	15: 73,427,154 (GRCm39)	R844W	probably damaging	Het
Depdc1b	A	T	13: 108,498,787 (GRCm39)	K157*	probably null	Het
Dnai7	T	C	6: 145,120,896 (GRCm39)	H641R	probably damaging	Het
Fanca	A	G	8: 123,998,009 (GRCm39)	W1226R	probably benign	Het
Fbxl13	A	G	5: 21,787,046 (GRCm39)	V297A	possibly damaging	Het
Fnta	A	T	8: 26,503,498 (GRCm39)	F96I	possibly damaging	Het
Fzd3	T	C	14: 65,449,680 (GRCm39)		probably benign	Het
Gckr	T	C	5: 31,484,353 (GRCm39)	V597A	possibly damaging	Het
Gm43302	T	C	5: 105,422,216 (GRCm39)	K496R	probably benign	Het
Gm5283	A	G	3: 17,285,005 (GRCm39)		noncoding transcript	Het
Gm6741	A	G	17: 91,544,332 (GRCm39)	I32V	probably benign	Het
Gnptab	T	A	10: 88,269,906 (GRCm39)	F870I	probably damaging	Het
Gpx8	G	A	13: 113,182,140 (GRCm39)	P98S	probably benign	Het
Grm2	T	C	9: 106,524,994 (GRCm39)	I574V	probably benign	Het
Gtf3c5	T	C	2: 28,457,787 (GRCm39)	D468G	probably benign	Het
Hectd3	A	T	4: 116,856,898 (GRCm39)	M482L	probably benign	Het
Ier5	G	T	1: 154,974,599 (GRCm39)	P193H	possibly damaging	Het
Inpp4a	A	G	1: 37,435,211 (GRCm39)	N827S	probably damaging	Het
Kif13a	A	G	13: 46,922,652 (GRCm39)	L387P	probably damaging	Het
Map3k1	G	C	13: 111,889,016 (GRCm39)	H1314D	possibly damaging	Het
Mbl2	G	A	19: 30,211,412 (GRCm39)	C11Y	possibly damaging	Het
Msr1	A	G	8: 40,084,381 (GRCm39)	L58P	probably damaging	Het
Mtmr10	T	A	7: 63,986,512 (GRCm39)	F530Y	possibly damaging	Het
Myo7b	A	G	18: 32,116,610 (GRCm39)	L999P	probably damaging	Het
Myoz3	T	C	18: 60,723,296 (GRCm39)	E8G	probably benign	Het
Naip6	C	A	13: 100,435,495 (GRCm39)	M1009I	probably benign	Het
Nav2	T	A	7: 49,102,411 (GRCm39)	M342K	probably damaging	Het
Ndufaf6	T	C	4: 11,070,228 (GRCm39)	H131R	probably benign	Het
Nlrp4a	T	C	7: 26,148,849 (GRCm39)	L152P	probably damaging	Het
Or9s23	A	G	1: 92,501,379 (GRCm39)	N162S	probably benign	Het
Pan3	T	C	5: 147,387,463 (GRCm39)	I144T	possibly damaging	Het
Prkdc	A	T	16: 15,552,786 (GRCm39)	Q2074L	probably benign	Het
Pthlh	G	A	6: 147,158,510 (GRCm39)	T150I	probably benign	Het
Ptprq	A	T	10: 107,541,414 (GRCm39)	Y371N	probably damaging	Het
Rfwd3	A	G	8: 112,009,975 (GRCm39)	S377P	probably damaging	Het
Rpl31-ps17	C	T	12: 54,748,397 (GRCm39)		noncoding transcript	Het
Sap130	T	C	18: 31,810,532 (GRCm39)		probably null	Het
Sap25	T	G	5: 137,640,891 (GRCm39)	M229R	possibly damaging	Het
Scaper	A	T	9: 55,766,321 (GRCm39)	V479E	probably null	Het
Scn3a	T	A	2: 65,337,550 (GRCm39)	D649V	probably damaging	Het
Slco1a7	A	T	6: 141,673,319 (GRCm39)	Y406*	probably null	Het
Smc1b	A	G	15: 85,006,052 (GRCm39)		probably benign	Het
Sowahb	T	C	5: 93,192,284 (GRCm39)	E145G	possibly damaging	Het
Stxbp5	T	A	10: 9,711,590 (GRCm39)	I277F	possibly damaging	Het
Tanc1	T	C	2: 59,674,177 (GRCm39)	S1754P	possibly damaging	Het
Tanc2	A	G	11: 105,801,135 (GRCm39)	D1117G	probably benign	Het
Tbc1d31	A	G	15: 57,815,137 (GRCm39)	M605V	possibly damaging	Het
Tekt3	A	T	11: 62,985,514 (GRCm39)	D440V	possibly damaging	Het
Tmem67	C	T	4: 12,063,730 (GRCm39)	W477*	probably null	Het
Tra2a	T	C	6: 49,227,861 (GRCm39)		probably benign	Het
Trappc12	A	G	12: 28,797,380 (GRCm39)	F51L	possibly damaging	Het
Trrap	C	A	5: 144,758,665 (GRCm39)	P2183Q	probably benign	Het
Ubn2	T	A	6: 38,447,076 (GRCm39)		probably null	Het
Unc5d	A	T	8: 29,184,568 (GRCm39)	V644E	probably damaging	Het
Xpo4	A	G	14: 57,827,547 (GRCm39)	L883P	probably damaging	Het
Zbbx	T	G	3: 74,959,721 (GRCm39)	D616A	possibly damaging	Het
Zfp943	T	A	17: 22,211,804 (GRCm39)	C297S	probably damaging	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
R1844:Dnajc1	UTSW	2	18,298,838 (GRCm39)	nonsense	probably null
R1848:Dnajc1	UTSW	2	18,224,524 (GRCm39)	missense	probably damaging	1.00
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'- GAACTACAAGACTTTGAGAGATTGC -3'
(R):5'- GTCTATGAGGCCAGATACCATGG -3'

Sequencing Primer
(F):5'- CTGAAGTGGGCACAAATG -3'
(R):5'- ACTTGATCATGTTGGACCCTACATAC -3'

Posted On

2014-10-02