Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02797:Dnajc21'

359997

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

4930461P20Rik, 9930116P15Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.366) question?

Stock #

IGL02797

Quality Score

Status

Chromosome

Chromosomal Location

10446842-10470602 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 10461441 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 170 (Y170H)

Ref Sequence

ENSEMBL: ENSMUSP00000116865 (fasta)

Gene Model

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

AlphaFold

E9Q8D0

Predicted Effect

probably damaging
Transcript: ENSMUST00000136591
AA Change: Y170H

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000116865
Gene: ENSMUSG00000044224
AA Change: Y170H

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: ENSMUST00000147224

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	G	16: 20,187,214 (GRCm39)	M924T	probably benign	Het
Afg2a	A	G	3: 37,512,465 (GRCm39)		probably benign	Het
B3gat2	A	G	1: 23,854,360 (GRCm39)	Y218C	probably damaging	Het
Bcs1l	T	C	1: 74,629,620 (GRCm39)		probably null	Het
Cd109	T	A	9: 78,568,995 (GRCm39)	I358N	probably damaging	Het
Cd276	T	C	9: 58,444,719 (GRCm39)	D84G	possibly damaging	Het
Chsy1	T	C	7: 65,821,412 (GRCm39)	F549S	probably damaging	Het
Clca3a2	T	C	3: 144,787,024 (GRCm39)	N549S	probably benign	Het
Cma1	A	G	14: 56,181,271 (GRCm39)	S32P	possibly damaging	Het
Col23a1	G	A	11: 51,452,743 (GRCm39)		probably null	Het
Ctps1	A	T	4: 120,420,021 (GRCm39)	I131K	probably benign	Het
Cyp2w1	T	C	5: 139,342,628 (GRCm39)	L441P	probably damaging	Het
Eif3a	A	T	19: 60,761,164 (GRCm39)	L648Q	probably damaging	Het
Eif3l	T	A	15: 78,959,477 (GRCm39)	D6E	probably benign	Het
Fam228a	A	T	12: 4,781,484 (GRCm39)	L125Q	probably damaging	Het
Foxa2	A	G	2: 147,886,045 (GRCm39)	C263R	possibly damaging	Het
Gm17455	A	G	10: 60,239,107 (GRCm39)	E124G	possibly damaging	Het
Gpc6	T	G	14: 117,163,394 (GRCm39)	L16R	probably damaging	Het
Hdac9	A	G	12: 34,443,273 (GRCm39)		probably benign	Het
Herc3	A	G	6: 58,845,679 (GRCm39)	N400S	probably benign	Het
Herc4	G	A	10: 63,152,586 (GRCm39)		probably null	Het
Il12b	A	G	11: 44,301,180 (GRCm39)		probably null	Het
Lama4	A	G	10: 38,932,920 (GRCm39)	R599G	probably null	Het
Lrp1b	T	A	2: 41,561,069 (GRCm39)	E286V		Het
Mink1	C	T	11: 70,501,176 (GRCm39)	P784S	probably damaging	Het
Musk	T	C	4: 58,366,921 (GRCm39)	F513S	probably benign	Het
Nfasc	T	A	1: 132,538,186 (GRCm39)	D474V	probably damaging	Het
Nhsl3	C	T	4: 129,117,104 (GRCm39)	R565H	probably damaging	Het
Nos2	T	G	11: 78,831,170 (GRCm39)	F420V	probably damaging	Het
Or52ab2	A	T	7: 102,970,058 (GRCm39)	I147L	probably benign	Het
Pcdhb14	A	G	18: 37,582,904 (GRCm39)	Y670C	probably damaging	Het
Polr1b	A	G	2: 128,944,899 (GRCm39)	E65G	probably damaging	Het
Ppp1r10	T	G	17: 36,238,904 (GRCm39)		probably null	Het
Prag1	C	T	8: 36,606,655 (GRCm39)	R799C	probably damaging	Het
Prb1c	T	A	6: 132,340,008 (GRCm39)		probably null	Het
Ptch1	T	C	13: 63,681,421 (GRCm39)	N485S	probably benign	Het
Rgsl1	T	C	1: 153,683,454 (GRCm39)	T19A	probably damaging	Het
Sgpl1	A	C	10: 60,937,507 (GRCm39)	S507A	probably benign	Het
Sgpp2	A	G	1: 78,393,819 (GRCm39)	D274G	probably benign	Het
Skap1	A	G	11: 96,603,843 (GRCm39)	D211G	possibly damaging	Het
Smc3	A	G	19: 53,627,189 (GRCm39)	T830A	probably benign	Het
Smpd2	G	A	10: 41,364,074 (GRCm39)	T215I	possibly damaging	Het
Sntg2	T	G	12: 30,276,891 (GRCm39)	Y387S	possibly damaging	Het
Sorl1	T	G	9: 41,948,355 (GRCm39)	D810A	probably damaging	Het
Spop	T	A	11: 95,372,909 (GRCm39)	I217N	probably damaging	Het
Stac2	T	C	11: 97,934,345 (GRCm39)	R120G	possibly damaging	Het
Stau1	A	T	2: 166,791,266 (GRCm39)	*496R	probably null	Het
Tmeff2	C	T	1: 50,967,206 (GRCm39)	R34C	probably damaging	Het
Treml2	C	T	17: 48,609,739 (GRCm39)	A57V	possibly damaging	Het
Vmn2r15	T	C	5: 109,445,250 (GRCm39)	D58G	probably benign	Het
Vmn2r7	T	C	3: 64,598,666 (GRCm39)	I721M	possibly damaging	Het
Vmn2r70	C	A	7: 85,208,295 (GRCm39)	M727I	probably benign	Het
Vwa8	T	A	14: 79,162,702 (GRCm39)	C161S	probably benign	Het

Other mutations in Dnajc21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01321:Dnajc21	APN	15	10,447,188 (GRCm39)	missense	probably benign	0.01
R0032:Dnajc21	UTSW	15	10,461,963 (GRCm39)	missense	probably benign	0.32
R0032:Dnajc21	UTSW	15	10,461,963 (GRCm39)	missense	probably benign	0.32
R1480:Dnajc21	UTSW	15	10,460,037 (GRCm39)	splice site	probably null
R1694:Dnajc21	UTSW	15	10,451,649 (GRCm39)	missense	probably benign	0.00
R1777:Dnajc21	UTSW	15	10,449,693 (GRCm39)	missense	probably benign	0.00
R2420:Dnajc21	UTSW	15	10,462,021 (GRCm39)	missense	probably benign	0.00
R2421:Dnajc21	UTSW	15	10,462,021 (GRCm39)	missense	probably benign	0.00
R2422:Dnajc21	UTSW	15	10,462,021 (GRCm39)	missense	probably benign	0.00
R4065:Dnajc21	UTSW	15	10,451,639 (GRCm39)	critical splice donor site	probably null
R4182:Dnajc21	UTSW	15	10,460,019 (GRCm39)	splice site	probably null
R4546:Dnajc21	UTSW	15	10,447,183 (GRCm39)	missense	probably benign	0.01
R4644:Dnajc21	UTSW	15	10,464,003 (GRCm39)	missense	possibly damaging	0.89
R4939:Dnajc21	UTSW	15	10,449,683 (GRCm39)	missense	probably damaging	0.96
R5075:Dnajc21	UTSW	15	10,461,963 (GRCm39)	missense	probably benign	0.32
R5187:Dnajc21	UTSW	15	10,464,050 (GRCm39)	missense	probably benign	0.21
R5273:Dnajc21	UTSW	15	10,454,893 (GRCm39)	missense	probably damaging	1.00
R5590:Dnajc21	UTSW	15	10,462,363 (GRCm39)	missense	possibly damaging	0.92
R5643:Dnajc21	UTSW	15	10,462,001 (GRCm39)	missense	probably benign
R5644:Dnajc21	UTSW	15	10,462,001 (GRCm39)	missense	probably benign
R5729:Dnajc21	UTSW	15	10,449,682 (GRCm39)	missense	probably benign	0.01
R6614:Dnajc21	UTSW	15	10,470,349 (GRCm39)	critical splice donor site	probably null
R6815:Dnajc21	UTSW	15	10,447,777 (GRCm39)	splice site	probably null
R7016:Dnajc21	UTSW	15	10,461,493 (GRCm39)	nonsense	probably null
R7076:Dnajc21	UTSW	15	10,449,717 (GRCm39)	missense	probably benign
R7584:Dnajc21	UTSW	15	10,462,381 (GRCm39)	nonsense	probably null
R7624:Dnajc21	UTSW	15	10,461,320 (GRCm39)	missense	probably damaging	0.98
R7624:Dnajc21	UTSW	15	10,461,318 (GRCm39)	missense	probably benign	0.07
R7676:Dnajc21	UTSW	15	10,462,430 (GRCm39)	missense	possibly damaging	0.95
R7788:Dnajc21	UTSW	15	10,460,133 (GRCm39)	missense	probably damaging	1.00
R7845:Dnajc21	UTSW	15	10,447,227 (GRCm39)	missense	probably damaging	1.00
R8552:Dnajc21	UTSW	15	10,464,005 (GRCm39)	nonsense	probably null
R9174:Dnajc21	UTSW	15	10,462,076 (GRCm39)	nonsense	probably null
R9416:Dnajc21	UTSW	15	10,462,048 (GRCm39)	missense	possibly damaging	0.82
R9566:Dnajc21	UTSW	15	10,464,019 (GRCm39)	missense	possibly damaging	0.47

Posted On

2015-12-18