Mutagenetix > Incidental Mutation

Incidental Mutation 'R2024:Dnajc2'

220252

Institutional Source

Beutler Lab

Gene Symbol

Dnajc2

Ensembl Gene

ENSMUSG00000029014

Gene Name

DnaJ heat shock protein family (Hsp40) member C2

Synonyms

Zrf1, Zrf2, MIDA1, Mida1

MMRRC Submission

040033-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

R2024 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21962279-21990183 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 21981788 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 45 (H45Q)

Ref Sequence

ENSEMBL: ENSMUSP00000110849 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030771] [ENSMUST00000115192] [ENSMUST00000115193] [ENSMUST00000115195]

AlphaFold

P54103

Predicted Effect

probably damaging
Transcript: ENSMUST00000030771
AA Change: H119Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000030771
Gene: ENSMUSG00000029014
AA Change: H119Q

Domain	Start	End	E-Value	Type
coiled coil region	39	67	N/A	INTRINSIC
DnaJ	87	153	2.16e-18	SMART
low complexity region	231	245	N/A	INTRINSIC
low complexity region	281	319	N/A	INTRINSIC
Pfam:RAC_head	339	430	2.8e-24	PFAM
SANT	450	509	6.64e-10	SMART
SANT	550	602	2.4e-16	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000115192
AA Change: H119Q

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000110846
Gene: ENSMUSG00000029014
AA Change: H119Q

Domain	Start	End	E-Value	Type
coiled coil region	39	67	N/A	INTRINSIC
DnaJ	87	153	2.16e-18	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000115193
AA Change: H119Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110847
Gene: ENSMUSG00000029014
AA Change: H119Q

Domain	Start	End	E-Value	Type
coiled coil region	39	67	N/A	INTRINSIC
DnaJ	87	153	2.16e-18	SMART
coiled coil region	230	358	N/A	INTRINSIC
coiled coil region	404	445	N/A	INTRINSIC
SANT	450	509	6.64e-10	SMART
SANT	550	602	1.34e-14	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000115195
AA Change: H45Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110849
Gene: ENSMUSG00000029014
AA Change: H45Q

Domain	Start	End	E-Value	Type
DnaJ	13	79	2.16e-18	SMART
coiled coil region	156	284	N/A	INTRINSIC
coiled coil region	330	371	N/A	INTRINSIC
SANT	376	435	6.64e-10	SMART
SANT	476	528	2.4e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132962

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147987

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 90.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the M-phase phosphoprotein (MPP) family. The gene encodes a phosphoprotein with a J domain and a Myb DNA-binding domain which localizes to both the nucleus and the cytosol. The protein is capable of forming a heterodimeric complex that associates with ribosomes, acting as a molecular chaperone for nascent polypeptide chains as they exit the ribosome. This protein was identified as a leukemia-associated antigen and expression of the gene is upregulated in leukemic blasts. Also, chromosomal aberrations involving this gene are associated with primary head and neck squamous cell tumors. This gene has a pseudogene on chromosome 6. Alternatively spliced variants which encode different protein isoforms have been described. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arid2	A	G	15: 96,259,680 (GRCm39)	D280G	probably damaging	Het
Atosa	A	G	9: 74,917,672 (GRCm39)	D757G	probably damaging	Het
Azi2	C	T	9: 117,878,390 (GRCm39)	R77*	probably null	Het
Chd8	T	C	14: 52,468,950 (GRCm39)	D556G	probably benign	Het
Cit	T	C	5: 116,085,983 (GRCm39)	M849T	probably damaging	Het
Cit	T	C	5: 116,143,899 (GRCm39)	S1923P	probably damaging	Het
Col17a1	T	A	19: 47,639,185 (GRCm39)	H1120L	probably benign	Het
Col6a5	G	T	9: 105,814,193 (GRCm39)	H606Q	unknown	Het
Dpp6	A	G	5: 27,914,457 (GRCm39)	D514G	possibly damaging	Het
Dync2h1	A	G	9: 7,129,062 (GRCm39)	S1818P	probably damaging	Het
Efemp1	A	T	11: 28,864,696 (GRCm39)	Y250F	possibly damaging	Het
Emc1	G	A	4: 139,088,257 (GRCm39)	E342K	possibly damaging	Het
Fam3c	T	C	6: 22,329,592 (GRCm39)	D45G	probably benign	Het
Fchsd2	A	C	7: 100,847,740 (GRCm39)	D210A	possibly damaging	Het
Flg	T	A	3: 93,186,722 (GRCm39)	M58K	probably damaging	Het
Gabra5	G	A	7: 57,138,698 (GRCm39)	R117C	probably damaging	Het
Gm6741	G	A	17: 91,544,309 (GRCm39)	S24N	probably benign	Het
Grin2a	T	C	16: 9,462,107 (GRCm39)	D675G	possibly damaging	Het
Hectd4	T	G	5: 121,419,981 (GRCm39)	V642G	possibly damaging	Het
Herc6	C	T	6: 57,560,317 (GRCm39)	T119M	probably benign	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hmgcs2	T	C	3: 98,206,530 (GRCm39)	S371P	probably damaging	Het
Idua	C	T	5: 108,828,600 (GRCm39)	A271V	probably damaging	Het
Inpp5d	T	A	1: 87,623,072 (GRCm39)	C125*	probably null	Het
Krt14	C	T	11: 100,098,044 (GRCm39)	G80R	unknown	Het
Lama5	T	C	2: 179,820,923 (GRCm39)	Y3176C	probably benign	Het
Lce1k	C	T	3: 92,713,809 (GRCm39)	C125Y	unknown	Het
Lig4	A	T	8: 10,022,436 (GRCm39)	L448Q	probably damaging	Het
Macf1	C	T	4: 123,265,711 (GRCm39)	A4821T	probably damaging	Het
Meioc	C	T	11: 102,566,184 (GRCm39)	A600V	probably benign	Het
Mepe	T	C	5: 104,474,957 (GRCm39)	S13P	possibly damaging	Het
Mms22l	A	G	4: 24,588,365 (GRCm39)	Y999C	probably damaging	Het
Ncbp3	T	A	11: 72,944,346 (GRCm39)	M116K	possibly damaging	Het
Ndufa10	A	G	1: 92,367,614 (GRCm39)	Y339H	probably damaging	Het
Nkx3-1	T	C	14: 69,428,266 (GRCm39)	I38T	probably damaging	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Or4k49	T	A	2: 111,495,168 (GRCm39)	M199K	possibly damaging	Het
Padi6	T	G	4: 140,456,279 (GRCm39)	I572L	possibly damaging	Het
Pdss2	A	T	10: 43,269,871 (GRCm39)	N238I	possibly damaging	Het
Pkd1l2	A	G	8: 117,746,272 (GRCm39)	V1906A	probably benign	Het
Pom121	T	C	5: 135,410,404 (GRCm39)		probably benign	Het
Psmd9	T	C	5: 123,379,925 (GRCm39)	F115L	probably damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Rai1	T	C	11: 60,076,415 (GRCm39)	F160L	probably damaging	Het
Rhbdl2	A	T	4: 123,720,665 (GRCm39)	R234S	probably damaging	Het
Rnase2a	T	A	14: 51,493,245 (GRCm39)	Y40F	probably damaging	Het
Setd2	T	C	9: 110,378,201 (GRCm39)	V672A	possibly damaging	Het
Sgpp2	A	G	1: 78,393,857 (GRCm39)	I287V	probably benign	Het
Sh3pxd2a	T	C	19: 47,255,703 (GRCm39)	E1033G	probably benign	Het
Slc5a9	G	A	4: 111,747,728 (GRCm39)	T284I	probably damaging	Het
Slfn9	A	G	11: 82,872,507 (GRCm39)	L743P	probably damaging	Het
Smchd1	T	A	17: 71,677,923 (GRCm39)	N1473I	probably benign	Het
Stx1b	A	T	7: 127,414,575 (GRCm39)	D16E	probably benign	Het
Tectb	T	C	19: 55,170,361 (GRCm39)	F71L	probably damaging	Het
Tmem220	T	C	11: 66,924,979 (GRCm39)	I138T	possibly damaging	Het
Tmtc4	T	C	14: 123,158,677 (GRCm39)	N682S	probably benign	Het
Tnc	A	G	4: 63,882,858 (GRCm39)	V1921A	probably damaging	Het
Ubn1	T	G	16: 4,882,487 (GRCm39)	L316W	probably damaging	Het
Vwa5a	T	C	9: 38,647,357 (GRCm39)	S579P	probably damaging	Het
Xdh	A	G	17: 74,228,300 (GRCm39)	L367P	possibly damaging	Het
Zfp280b	T	C	10: 75,874,328 (GRCm39)	L69S	probably damaging	Het
Zfp990	A	C	4: 145,263,974 (GRCm39)	Y324S	possibly damaging	Het

Other mutations in Dnajc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01313:Dnajc2	APN	5	21,979,974 (GRCm39)	missense	possibly damaging	0.83
IGL01479:Dnajc2	APN	5	21,962,891 (GRCm39)	missense	probably damaging	1.00
IGL01804:Dnajc2	APN	5	21,962,361 (GRCm39)	missense	probably damaging	1.00
IGL02478:Dnajc2	APN	5	21,981,788 (GRCm39)	missense	probably damaging	1.00
IGL02552:Dnajc2	APN	5	21,988,061 (GRCm39)	missense	probably damaging	1.00
IGL02657:Dnajc2	APN	5	21,975,479 (GRCm39)	splice site	probably benign
IGL02832:Dnajc2	APN	5	21,965,408 (GRCm39)	missense	probably benign
IGL03177:Dnajc2	APN	5	21,980,079 (GRCm39)	splice site	probably benign
R1914:Dnajc2	UTSW	5	21,986,317 (GRCm39)	critical splice donor site	probably null
R1915:Dnajc2	UTSW	5	21,986,317 (GRCm39)	critical splice donor site	probably null
R2437:Dnajc2	UTSW	5	21,965,389 (GRCm39)	missense	probably benign	0.06
R4177:Dnajc2	UTSW	5	21,962,394 (GRCm39)	missense	probably benign	0.28
R4451:Dnajc2	UTSW	5	21,962,792 (GRCm39)	missense	possibly damaging	0.93
R4812:Dnajc2	UTSW	5	21,968,484 (GRCm39)	missense	probably benign	0.03
R4916:Dnajc2	UTSW	5	21,962,338 (GRCm39)	missense	probably damaging	1.00
R5013:Dnajc2	UTSW	5	21,962,771 (GRCm39)	nonsense	probably null
R5094:Dnajc2	UTSW	5	21,981,730 (GRCm39)	missense	probably damaging	1.00
R5124:Dnajc2	UTSW	5	21,968,482 (GRCm39)	missense	probably benign
R5891:Dnajc2	UTSW	5	21,966,709 (GRCm39)	missense	possibly damaging	0.67
R6192:Dnajc2	UTSW	5	21,973,646 (GRCm39)	missense	probably damaging	1.00
R6567:Dnajc2	UTSW	5	21,971,676 (GRCm39)	missense	probably damaging	1.00
R7211:Dnajc2	UTSW	5	21,981,777 (GRCm39)	missense	probably damaging	1.00
R7216:Dnajc2	UTSW	5	21,981,777 (GRCm39)	missense	probably damaging	1.00
R7418:Dnajc2	UTSW	5	21,965,622 (GRCm39)	critical splice donor site	probably null
R7728:Dnajc2	UTSW	5	21,975,538 (GRCm39)	missense	possibly damaging	0.62
R7877:Dnajc2	UTSW	5	21,965,637 (GRCm39)	missense	possibly damaging	0.88
R8156:Dnajc2	UTSW	5	21,986,317 (GRCm39)	critical splice donor site	probably null
R8231:Dnajc2	UTSW	5	21,966,689 (GRCm39)	missense	probably benign	0.00
R8360:Dnajc2	UTSW	5	21,962,705 (GRCm39)	missense	unknown
R8880:Dnajc2	UTSW	5	21,973,670 (GRCm39)	missense	probably damaging	1.00
R9648:Dnajc2	UTSW	5	21,968,478 (GRCm39)	missense	probably damaging	0.98
RF040:Dnajc2	UTSW	5	21,962,695 (GRCm39)	makesense	probably null
X0027:Dnajc2	UTSW	5	21,978,809 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- AGTGAAGCTCTGCAGAAACTACTAG -3'
(R):5'- CAAATTTTATATGCCCCAGTACAGG -3'

Sequencing Primer
(F):5'- GAAAGGTTTTAAAATGGCAGTTAAGC -3'
(R):5'- CCAGTACAGGGGAATGCC -3'

Posted On

2014-08-25