Mutagenetix > Incidental Mutation

Incidental Mutation 'R7242:Dnajc1'

563258

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

045349-MU

Accession Numbers

Essential gene?

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

Stock #

R7242 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

18210445-18402025 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 18298783 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 264 (E264K)

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: E264K

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000088980
Gene: ENSMUSG00000026740
AA Change: E264K

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 benign
Transcript: ENSMUST00000166495
AA Change: E264K

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000126321
Gene: ENSMUSG00000026740
AA Change: E264K

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: E68K

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

0.1912

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (73/73)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	A	T	5: 146,121,677 (GRCm39)	I74N	probably damaging	Het
Abca6	A	T	11: 110,132,479 (GRCm39)	V272D	possibly damaging	Het
Acot11	A	T	4: 106,619,690 (GRCm39)	S163R	probably benign	Het
Adcy5	T	C	16: 34,977,205 (GRCm39)	L246P	probably damaging	Het
Adgra1	A	T	7: 139,427,573 (GRCm39)		probably null	Het
Adgra2	A	G	8: 27,612,055 (GRCm39)	T1335A	probably damaging	Het
Aoc1l2	A	T	6: 48,908,062 (GRCm39)	Y354F	probably damaging	Het
Armt1	T	C	10: 4,403,475 (GRCm39)	S187P	probably damaging	Het
Azin1	T	C	15: 38,501,749 (GRCm39)	M1V	probably null	Het
B430305J03Rik	C	T	3: 61,271,256 (GRCm39)	C163Y	unknown	Het
Cables1	T	C	18: 11,973,064 (GRCm39)	S68P	possibly damaging	Het
Cacna1d	A	G	14: 29,900,663 (GRCm39)	F341L	probably benign	Het
Ccdc90b	T	A	7: 92,221,776 (GRCm39)	H118Q	probably damaging	Het
Ccn5	T	C	2: 163,670,772 (GRCm39)	F93S	probably benign	Het
Celf1	T	A	2: 90,833,602 (GRCm39)	C119*	probably null	Het
Cfap57	C	T	4: 118,450,293 (GRCm39)	V610M	possibly damaging	Het
Chrm4	T	A	2: 91,757,595 (GRCm39)	M1K	probably null	Het
Chrnd	C	T	1: 87,125,201 (GRCm39)	T418I	probably damaging	Het
Coch	G	T	12: 51,640,344 (GRCm39)		probably benign	Het
Cop1	A	G	1: 159,112,118 (GRCm39)	T345A	probably benign	Het
Cops6	A	G	5: 138,161,842 (GRCm39)	T96A	probably benign	Het
Corin	T	C	5: 72,462,398 (GRCm39)	I945V	probably benign	Het
Cyp2c67	G	T	19: 39,605,783 (GRCm39)	T371N	probably benign	Het
Dap	T	A	15: 31,273,454 (GRCm39)	*103R	probably null	Het
Defb35	T	A	8: 22,430,773 (GRCm39)	V49E	unknown	Het
Dmtf1	T	A	5: 9,199,016 (GRCm39)	D39V	possibly damaging	Het
Dmtn	T	C	14: 70,855,460 (GRCm39)	T10A	probably damaging	Het
Dtx3l	A	T	16: 35,753,771 (GRCm39)	N278K	possibly damaging	Het
Fam161a	T	A	11: 22,970,037 (GRCm39)	S72T	possibly damaging	Het
Fnbp4	T	A	2: 90,576,140 (GRCm39)	S114T	unknown	Het
Focad	T	G	4: 88,228,143 (GRCm39)	I784S	unknown	Het
Fzd8	A	T	18: 9,214,171 (GRCm39)	T418S	probably damaging	Het
Gclc	A	G	9: 77,692,653 (GRCm39)	Y264C	probably benign	Het
Ggn	G	A	7: 28,872,459 (GRCm39)	C649Y	possibly damaging	Het
Gys1	A	G	7: 45,089,092 (GRCm39)		probably null	Het
Hsd3b1	T	C	3: 98,760,526 (GRCm39)	Y155C	probably damaging	Het
Htatip2	A	G	7: 49,422,354 (GRCm39)	K191E	probably benign	Het
Ik	A	T	18: 36,881,275 (GRCm39)	S79C	probably null	Het
Kin	G	A	2: 10,096,604 (GRCm39)	R151Q	probably benign	Het
Kpna2rt	G	A	17: 90,217,563 (GRCm39)	T61I	probably benign	Het
Mast4	A	G	13: 102,874,986 (GRCm39)	S1461P	probably damaging	Het
Melk	T	A	4: 44,360,885 (GRCm39)	V555E	probably damaging	Het
Met	G	A	6: 17,491,316 (GRCm39)	C26Y	probably damaging	Het
Mfsd6	A	T	1: 52,748,633 (GRCm39)	F77L	probably damaging	Het
Mib1	T	A	18: 10,741,011 (GRCm39)	D86E	probably damaging	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Or12e8	G	A	2: 87,188,426 (GRCm39)	V213I	probably benign	Het
Or56b1b	T	G	7: 108,164,919 (GRCm39)	S28R	probably benign	Het
Or7a36	A	T	10: 78,820,331 (GRCm39)	K236*	probably null	Het
Or8g21	A	G	9: 38,906,437 (GRCm39)	I98T	probably benign	Het
Patj	A	T	4: 98,480,170 (GRCm39)	I1296L	probably benign	Het
Pcdh1	C	T	18: 38,336,270 (GRCm39)	V122M	probably benign	Het
Pcdhac2	A	T	18: 37,277,946 (GRCm39)	I309F	possibly damaging	Het
Phf8-ps	A	G	17: 33,286,101 (GRCm39)	Y234H	probably damaging	Het
Phtf1	A	G	3: 103,906,012 (GRCm39)	S565G	probably damaging	Het
Plekha2	A	C	8: 25,578,411 (GRCm39)	F30V	probably damaging	Het
Ptbp1	A	G	10: 79,692,222 (GRCm39)	M20V	unknown	Het
Pth2r	A	G	1: 65,427,779 (GRCm39)	D484G	probably benign	Het
Rapgef2	G	A	3: 78,995,210 (GRCm39)	Q665*	probably null	Het
Scamp1	G	A	13: 94,369,648 (GRCm39)	T59I	probably benign	Het
Sema4a	T	A	3: 88,357,416 (GRCm39)	D230V	probably damaging	Het
Snw1	C	T	12: 87,515,415 (GRCm39)	G45R	possibly damaging	Het
Sox30	T	A	11: 45,875,347 (GRCm39)		probably null	Het
Sspo	T	A	6: 48,450,886 (GRCm39)	I2665K	probably benign	Het
Stx5a	T	A	19: 8,732,641 (GRCm39)	W437R	unknown	Het
Tln1	A	G	4: 43,542,602 (GRCm39)	V1402A	probably benign	Het
Tpm1	A	G	9: 66,935,383 (GRCm39)	L244P	probably benign	Het
Try5	T	A	6: 41,290,388 (GRCm39)	E32V	probably benign	Het
Ttn	T	C	2: 76,552,073 (GRCm39)	N31188S	probably benign	Het
Tulp1	T	C	17: 28,582,379 (GRCm39)		probably null	Het
Usp13	T	G	3: 32,919,892 (GRCm39)		probably null	Het
Vax2	A	G	6: 83,688,298 (GRCm39)	E7G	possibly damaging	Het
Vmn2r45	A	T	7: 8,488,612 (GRCm39)	Y139*	probably null	Het
Zfp423	T	C	8: 88,631,155 (GRCm39)	D21G	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
R1844:Dnajc1	UTSW	2	18,298,838 (GRCm39)	nonsense	probably null
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
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'- AGGTTGGCTCATCTCTCTTGAC -3'
(R):5'- TTTGTCATTGGAACACAGAGGAAAG -3'

Sequencing Primer
(F):5'- ACACTTGACTTTGTATGGCTCAG -3'
(R):5'- AGACTAAGTGGAAAATAAGTGCATTG -3'

Posted On

2019-06-26