Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01321:Dnajc21'

74059

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dnajc21

Ensembl Gene

ENSMUSG00000044224

Gene Name

DnaJ heat shock protein family (Hsp40) member C21

Synonyms

9930116P15Rik, 4930461P20Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.203) question?

Stock #

IGL01321

Quality Score

Status

Chromosome

Chromosomal Location

10446756-10470516 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 10447102 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 520 (V520G)

Ref Sequence

ENSEMBL: ENSMUSP00000116865 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000136591]

Predicted Effect

probably benign
Transcript: ENSMUST00000136591
AA Change: V520G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000116865
Gene: ENSMUSG00000044224
AA Change: V520G

Domain	Start	End	E-Value	Type
DnaJ	2	61	7.2e-29	SMART
coiled coil region	178	283	N/A	INTRINSIC
ZnF_U1	311	345	5.3e-8	SMART
ZnF_C2H2	314	338	1.67e-2	SMART
low complexity region	379	393	N/A	INTRINSIC
low complexity region	452	470	N/A	INTRINSIC
ZnF_C2H2	483	507	5.34e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145719

SMART Domains

Protein: ENSMUSP00000116192
Gene: ENSMUSG00000044224

Domain	Start	End	E-Value	Type
coiled coil region	26	131	N/A	INTRINSIC
ZnF_U1	160	194	5.3e-8	SMART
ZnF_C2H2	163	187	1.67e-2	SMART
low complexity region	228	242	N/A	INTRINSIC
low complexity region	301	319	N/A	INTRINSIC
ZnF_C2H2	332	356	5.34e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146323

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150878

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the DNAJ heat shock protein 40 family of proteins that is characterized by two N-terminal tetratricopeptide repeat domains and a C-terminal DNAJ domain. This protein binds the precursor 45S ribosomal RNA and may be involved in early nuclear ribosomal RNA biogenesis and maturation of the 60S ribosomal subunit. Mutations in this gene result in Bone marrow failure syndrome 3. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2017]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009B22Rik	A	T	11: 51,685,843	V76D	probably damaging	Het
Acnat2	A	G	4: 49,380,269	S370P	probably damaging	Het
Adamts5	T	C	16: 85,899,475	R265G	probably benign	Het
Cd2ap	T	C	17: 42,845,389	S86G	possibly damaging	Het
Cers3	A	C	7: 66,786,003		probably benign	Het
Dnaaf2	G	T	12: 69,196,602	P562T	probably damaging	Het
Dpcr1	A	T	17: 35,636,866	N490K	probably damaging	Het
Dync1h1	A	G	12: 110,625,607		probably benign	Het
Extl3	T	C	14: 65,066,762	N733D	probably benign	Het
Gm5499	T	A	17: 87,078,500		noncoding transcript	Het
Gstm6	T	C	3: 107,941,063	Q180R	probably benign	Het
Hdlbp	G	A	1: 93,423,802	R460W	probably damaging	Het
Ift81	T	C	5: 122,610,968	D40G	probably damaging	Het
Igsf3	T	A	3: 101,427,022		probably benign	Het
Kcnb2	A	G	1: 15,312,923	T158A	probably benign	Het
Lrrc59	C	T	11: 94,638,600	R167*	probably null	Het
Macf1	A	G	4: 123,440,774	C4397R	probably damaging	Het
Morc1	T	C	16: 48,582,462	S583P	probably benign	Het
Nipsnap2	T	A	5: 129,757,141	*282R	probably null	Het
Olfr1160	A	T	2: 88,006,245	C178S	probably damaging	Het
Olfr703	T	C	7: 106,844,749	L46P	probably damaging	Het
Parp14	T	A	16: 35,856,559	Q1013L	probably benign	Het
Pdzd8	A	C	19: 59,301,529	S480A	probably benign	Het
Piezo1	A	T	8: 122,487,600	S1609R	probably damaging	Het
Pkp4	G	A	2: 59,350,627		probably null	Het
Plpp2	A	T	10: 79,527,493	V106D	probably damaging	Het
Rimbp2	T	C	5: 128,786,752	Y724C	probably benign	Het
Rpgrip1l	A	T	8: 91,260,873	L852*	probably null	Het
Samd9l	T	A	6: 3,376,259	D334V	probably benign	Het
Sipa1l2	G	A	8: 125,491,518	T360M	probably damaging	Het
Slc30a2	A	T	4: 134,343,300	D5V	probably damaging	Het
Spata31	T	C	13: 64,921,754	I572T	probably benign	Het
Tma16	G	A	8: 66,476,860	L161F	probably benign	Het
Trim69	A	T	2: 122,173,284	E238V	possibly damaging	Het
Zfhx4	A	G	3: 5,242,328	T205A	probably benign	Het

Other mutations in Dnajc21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02797:Dnajc21	APN	15	10461355	missense	probably damaging	0.96
R0032:Dnajc21	UTSW	15	10461877	missense	probably benign	0.32
R0032:Dnajc21	UTSW	15	10461877	missense	probably benign	0.32
R1480:Dnajc21	UTSW	15	10459951	splice site	probably null
R1694:Dnajc21	UTSW	15	10451563	missense	probably benign	0.00
R1777:Dnajc21	UTSW	15	10449607	missense	probably benign	0.00
R2420:Dnajc21	UTSW	15	10461935	missense	probably benign	0.00
R2421:Dnajc21	UTSW	15	10461935	missense	probably benign	0.00
R2422:Dnajc21	UTSW	15	10461935	missense	probably benign	0.00
R4065:Dnajc21	UTSW	15	10451553	critical splice donor site	probably null
R4182:Dnajc21	UTSW	15	10459933	intron	probably null
R4546:Dnajc21	UTSW	15	10447097	missense	probably benign	0.01
R4644:Dnajc21	UTSW	15	10463917	missense	possibly damaging	0.89
R4939:Dnajc21	UTSW	15	10449597	missense	probably damaging	0.96
R5075:Dnajc21	UTSW	15	10461877	missense	probably benign	0.32
R5187:Dnajc21	UTSW	15	10463964	missense	probably benign	0.21
R5273:Dnajc21	UTSW	15	10454807	missense	probably damaging	1.00
R5590:Dnajc21	UTSW	15	10462277	missense	possibly damaging	0.92
R5643:Dnajc21	UTSW	15	10461915	missense	probably benign
R5644:Dnajc21	UTSW	15	10461915	missense	probably benign
R5729:Dnajc21	UTSW	15	10449596	missense	probably benign	0.01
R6614:Dnajc21	UTSW	15	10470263	critical splice donor site	probably null
R6815:Dnajc21	UTSW	15	10447691	splice site	probably null
R7016:Dnajc21	UTSW	15	10461407	nonsense	probably null
R7076:Dnajc21	UTSW	15	10449631	missense	probably benign
R7584:Dnajc21	UTSW	15	10462295	nonsense	probably null
R7624:Dnajc21	UTSW	15	10461232	missense	probably benign	0.07
R7624:Dnajc21	UTSW	15	10461234	missense	probably damaging	0.98
R7676:Dnajc21	UTSW	15	10462344	missense	possibly damaging	0.95
R7788:Dnajc21	UTSW	15	10460047	missense	probably damaging	1.00
R7845:Dnajc21	UTSW	15	10447141	missense	probably damaging	1.00
R7928:Dnajc21	UTSW	15	10447141	missense	probably damaging	1.00

Posted On

2013-10-07