Mutagenetix > Incidental Mutation

Incidental Mutation 'R2422:Dnajc21'

249397

Institutional Source

Beutler Lab

Gene Symbol

Dnajc21

Ensembl Gene

ENSMUSG00000044224

Gene Name

DnaJ heat shock protein family (Hsp40) member C21

Synonyms

9930116P15Rik, 4930461P20Rik

MMRRC Submission

040384-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.497) question?

Stock #

R2422 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10446756-10470516 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 10461935 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 127 (S127P)

Ref Sequence

ENSEMBL: ENSMUSP00000116865 (fasta)

Gene Model

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

AlphaFold

E9Q8D0

Predicted Effect

probably benign
Transcript: ENSMUST00000136591
AA Change: S127P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000116865
Gene: ENSMUSG00000044224
AA Change: S127P

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

99% (77/78)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	C	A	1: 37,613,475	V1084L	probably benign	Het
4933409G03Rik	A	T	2: 68,591,520	N47I	probably benign	Het
Actr5	T	C	2: 158,636,081	F457S	probably damaging	Het
Adamts3	A	G	5: 89,683,175	S1007P	probably damaging	Het
Adck2	C	T	6: 39,583,998	A440V	possibly damaging	Het
Birc6	T	A	17: 74,660,614	L301Q	probably damaging	Het
Ccdc18	A	C	5: 108,228,588	E1298D	probably damaging	Het
Ccdc77	A	G	6: 120,339,159	C186R	probably benign	Het
Cdk12	T	G	11: 98,219,074	S640R	probably benign	Het
Cdv3	T	C	9: 103,365,118		probably benign	Het
Celf2	G	A	2: 6,553,889	T364I	probably damaging	Het
Cmtr2	C	A	8: 110,222,781	S574R	probably benign	Het
Col14a1	T	C	15: 55,449,922	L56P	unknown	Het
Dctn1	C	T	6: 83,199,800	L1241F	possibly damaging	Het
Depdc5	T	C	5: 32,991,035	F1505S	probably damaging	Het
Dhcr24	G	T	4: 106,561,094		probably benign	Het
Entpd7	A	T	19: 43,728,088	Y507F	possibly damaging	Het
Fbp1	T	C	13: 62,871,306	K24E	probably benign	Het
Galr1	A	T	18: 82,405,923	N76K	probably damaging	Het
Glrb	A	G	3: 80,860,235	I226T	probably damaging	Het
Gm17421	T	A	12: 113,369,487		noncoding transcript	Het
Gm4950	T	A	18: 51,865,784	Q33L	probably benign	Het
Gm5415	C	T	1: 32,545,861	A323T	possibly damaging	Het
Gm6583	A	T	5: 112,355,118	V240D	probably damaging	Het
Gnat2	A	T	3: 108,095,539	M88L	probably damaging	Het
Gpr183	A	G	14: 121,954,177	Y311H	probably damaging	Het
H2-M10.5	A	G	17: 36,774,999	I308V	probably benign	Het
Hipk3	C	T	2: 104,471,485	G121R	probably benign	Het
Hjurp	A	G	1: 88,266,561		probably benign	Het
Homez	C	A	14: 54,857,574	V226F	probably benign	Het
Inf2	C	A	12: 112,610,824	A1034D	unknown	Het
Kcnc4	G	T	3: 107,445,547	P572T	probably benign	Het
Kmt2d	T	C	15: 98,862,266	E1037G	unknown	Het
Krt78	T	C	15: 101,947,264	E704G	probably damaging	Het
Lama1	A	T	17: 67,750,553	M541L	probably benign	Het
Lmbrd2	C	T	15: 9,194,765	T618M	possibly damaging	Het
Ly6g6e	G	A	17: 35,078,146	R121Q	probably benign	Het
Mettl22	T	C	16: 8,487,361	F293L	probably damaging	Het
Mib1	T	C	18: 10,751,906	S263P	probably damaging	Het
Ndufaf1	T	C	2: 119,655,737	E298G	probably damaging	Het
Nek1	T	C	8: 61,019,901	V152A	probably damaging	Het
Nlrp4d	T	A	7: 10,362,945	D876V	probably benign	Het
Olfr178	T	C	16: 58,889,965	E85G	probably benign	Het
Olfr235	A	T	19: 12,268,919	T230S	probably damaging	Het
Olfr740	T	C	14: 50,453,436	L128P	probably damaging	Het
Olfr975	A	G	9: 39,950,528	L81P	possibly damaging	Het
Pcdha11	G	T	18: 37,007,272	L651F	probably damaging	Het
Plekhg1	G	A	10: 3,958,048	M988I	probably benign	Het
Plxnb1	G	A	9: 109,108,438	R1169H	probably benign	Het
Ppp4r3a	A	G	12: 101,042,653		probably benign	Het
Pum2	A	T	12: 8,748,931	Q930L	possibly damaging	Het
Rbp4	T	C	19: 38,124,344	E67G	probably damaging	Het
Rgs9	C	A	11: 109,225,777		probably null	Het
Sipa1	A	T	19: 5,652,112	D923E	possibly damaging	Het
Smc1a	A	G	X: 152,047,975		probably benign	Het
Snx33	C	A	9: 56,918,538	M546I	probably benign	Het
Spag17	T	A	3: 100,027,619	W714R	probably benign	Het
Spata2	C	T	2: 167,484,206	R231Q	probably damaging	Het
Stard9	C	T	2: 120,700,284	R2341C	probably benign	Het
Tas2r116	A	T	6: 132,855,594	I53F	possibly damaging	Het
Tlk1	T	C	2: 70,770,005	E110G	probably damaging	Het
Tmem102	T	A	11: 69,804,537	E203V	probably benign	Het
Top2b	T	G	14: 16,409,189	I777M	probably damaging	Het
Ttc23l	CT	CTTGGATT	15: 10,537,562		probably benign	Het
Ttc23l	G	A	15: 10,537,566	S206L	probably benign	Het
Tyw5	A	G	1: 57,396,748	I82T	possibly damaging	Het
Uba6	A	G	5: 86,132,616		probably null	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Unc13c	T	C	9: 73,931,547	Y674C	probably damaging	Het
Vmn2r105	T	A	17: 20,227,835	R242S	probably benign	Het
Vmn2r12	A	G	5: 109,086,532	Y605H	probably benign	Het
Wdr77	A	T	3: 105,960,021	K62*	probably null	Het
Zfhx4	C	A	3: 5,390,405	A1153E	probably benign	Het
Zfp266	C	A	9: 20,499,262	V540L	possibly damaging	Het
Zfp638	C	A	6: 83,966,439		probably benign	Het
Zfp644	A	G	5: 106,637,244	M479T	possibly damaging	Het
Zfp951	G	A	5: 104,815,277	T141I	probably benign	Het

Other mutations in Dnajc21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01321:Dnajc21	APN	15	10447102	missense	probably benign	0.01
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
R4065:Dnajc21	UTSW	15	10451553	critical splice donor site	probably null
R4182:Dnajc21	UTSW	15	10459933	splice site	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
R8552:Dnajc21	UTSW	15	10463919	nonsense	probably null
R9174:Dnajc21	UTSW	15	10461990	nonsense	probably null
R9416:Dnajc21	UTSW	15	10461962	missense	possibly damaging	0.82
R9566:Dnajc21	UTSW	15	10463933	missense	possibly damaging	0.47

Predicted Primers

PCR Primer
(F):5'- AGAGTCAGTACAAGCTCCGG -3'
(R):5'- AATGTGGGGCTGTCCTAAAATTG -3'

Sequencing Primer
(F):5'- GTACAAGCTCCGGCAAAAATG -3'
(R):5'- TGAATGCACGTCTGTTTAAGC -3'

Posted On

2014-11-12