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

4930461P20Rik, 9930116P15Rik

MMRRC Submission

040384-MU

Accession Numbers

Essential gene?

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

Stock #

R2422 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10446842-10470602 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 10462021 bp (GRCm39)

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
4933409G03Rik	A	T	2: 68,421,864 (GRCm39)	N47I	probably benign	Het
Actr5	T	C	2: 158,478,001 (GRCm39)	F457S	probably damaging	Het
Adamts3	A	G	5: 89,831,034 (GRCm39)	S1007P	probably damaging	Het
Adck2	C	T	6: 39,560,932 (GRCm39)	A440V	possibly damaging	Het
Birc6	T	A	17: 74,967,609 (GRCm39)	L301Q	probably damaging	Het
Ccdc121rt3	A	T	5: 112,502,984 (GRCm39)	V240D	probably damaging	Het
Ccdc18	A	C	5: 108,376,454 (GRCm39)	E1298D	probably damaging	Het
Ccdc77	A	G	6: 120,316,120 (GRCm39)	C186R	probably benign	Het
Cdk12	T	G	11: 98,109,900 (GRCm39)	S640R	probably benign	Het
Cdv3	T	C	9: 103,242,317 (GRCm39)		probably benign	Het
Celf2	G	A	2: 6,558,700 (GRCm39)	T364I	probably damaging	Het
Cmtr2	C	A	8: 110,949,413 (GRCm39)	S574R	probably benign	Het
Col14a1	T	C	15: 55,313,318 (GRCm39)	L56P	unknown	Het
Cracdl	C	A	1: 37,652,556 (GRCm39)	V1084L	probably benign	Het
Dctn1	C	T	6: 83,176,782 (GRCm39)	L1241F	possibly damaging	Het
Depdc5	T	C	5: 33,148,379 (GRCm39)	F1505S	probably damaging	Het
Dhcr24	G	T	4: 106,418,291 (GRCm39)		probably benign	Het
Entpd7	A	T	19: 43,716,527 (GRCm39)	Y507F	possibly damaging	Het
Fbp1	T	C	13: 63,019,120 (GRCm39)	K24E	probably benign	Het
Galr1	A	T	18: 82,424,048 (GRCm39)	N76K	probably damaging	Het
Glrb	A	G	3: 80,767,542 (GRCm39)	I226T	probably damaging	Het
Gm17421	T	A	12: 113,333,107 (GRCm39)		noncoding transcript	Het
Gm4950	T	A	18: 51,998,856 (GRCm39)	Q33L	probably benign	Het
Gnat2	A	T	3: 108,002,855 (GRCm39)	M88L	probably damaging	Het
Gpr183	A	G	14: 122,191,589 (GRCm39)	Y311H	probably damaging	Het
H2-M10.5	A	G	17: 37,085,891 (GRCm39)	I308V	probably benign	Het
Hipk3	C	T	2: 104,301,830 (GRCm39)	G121R	probably benign	Het
Hjurp	A	G	1: 88,194,283 (GRCm39)		probably benign	Het
Homez	C	A	14: 55,095,031 (GRCm39)	V226F	probably benign	Het
Inf2	C	A	12: 112,577,258 (GRCm39)	A1034D	unknown	Het
Kcnc4	G	T	3: 107,352,863 (GRCm39)	P572T	probably benign	Het
Kmt2d	T	C	15: 98,760,147 (GRCm39)	E1037G	unknown	Het
Krt78	T	C	15: 101,855,699 (GRCm39)	E704G	probably damaging	Het
Lama1	A	T	17: 68,057,548 (GRCm39)	M541L	probably benign	Het
Lmbrd2	C	T	15: 9,194,852 (GRCm39)	T618M	possibly damaging	Het
Ly6g6e	G	A	17: 35,297,122 (GRCm39)	R121Q	probably benign	Het
Mettl22	T	C	16: 8,305,225 (GRCm39)	F293L	probably damaging	Het
Mib1	T	C	18: 10,751,906 (GRCm39)	S263P	probably damaging	Het
Ndufaf1	T	C	2: 119,486,218 (GRCm39)	E298G	probably damaging	Het
Nek1	T	C	8: 61,472,935 (GRCm39)	V152A	probably damaging	Het
Nlrp4d	T	A	7: 10,096,872 (GRCm39)	D876V	probably benign	Het
Or10d5	A	G	9: 39,861,824 (GRCm39)	L81P	possibly damaging	Het
Or11g7	T	C	14: 50,690,893 (GRCm39)	L128P	probably damaging	Het
Or5an11	A	T	19: 12,246,283 (GRCm39)	T230S	probably damaging	Het
Or5k15	T	C	16: 58,710,328 (GRCm39)	E85G	probably benign	Het
Pcdha11	G	T	18: 37,140,325 (GRCm39)	L651F	probably damaging	Het
Plekhg1	G	A	10: 3,908,048 (GRCm39)	M988I	probably benign	Het
Plxnb1	G	A	9: 108,937,506 (GRCm39)	R1169H	probably benign	Het
Ppp4r3a	A	G	12: 101,008,912 (GRCm39)		probably benign	Het
Pum2	A	T	12: 8,798,931 (GRCm39)	Q930L	possibly damaging	Het
Rbp4	T	C	19: 38,112,792 (GRCm39)	E67G	probably damaging	Het
Rgs9	C	A	11: 109,116,603 (GRCm39)		probably null	Het
Semp2l1	C	T	1: 32,584,942 (GRCm39)	A323T	possibly damaging	Het
Sipa1	A	T	19: 5,702,140 (GRCm39)	D923E	possibly damaging	Het
Smc1a	A	G	X: 150,830,971 (GRCm39)		probably benign	Het
Snx33	C	A	9: 56,825,822 (GRCm39)	M546I	probably benign	Het
Spag17	T	A	3: 99,934,935 (GRCm39)	W714R	probably benign	Het
Spata2	C	T	2: 167,326,126 (GRCm39)	R231Q	probably damaging	Het
Stard9	C	T	2: 120,530,765 (GRCm39)	R2341C	probably benign	Het
Tas2r116	A	T	6: 132,832,557 (GRCm39)	I53F	possibly damaging	Het
Tlk1	T	C	2: 70,600,349 (GRCm39)	E110G	probably damaging	Het
Tmem102	T	A	11: 69,695,363 (GRCm39)	E203V	probably benign	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Ttc23l	G	A	15: 10,537,652 (GRCm39)	S206L	probably benign	Het
Ttc23l	CT	CTTGGATT	15: 10,537,648 (GRCm39)		probably benign	Het
Tyw5	A	G	1: 57,435,907 (GRCm39)	I82T	possibly damaging	Het
Uba6	A	G	5: 86,280,475 (GRCm39)		probably null	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Unc13c	T	C	9: 73,838,829 (GRCm39)	Y674C	probably damaging	Het
Vmn2r105	T	A	17: 20,448,097 (GRCm39)	R242S	probably benign	Het
Vmn2r12	A	G	5: 109,234,398 (GRCm39)	Y605H	probably benign	Het
Wdr77	A	T	3: 105,867,337 (GRCm39)	K62*	probably null	Het
Zfhx4	C	A	3: 5,455,465 (GRCm39)	A1153E	probably benign	Het
Zfp266	C	A	9: 20,410,558 (GRCm39)	V540L	possibly damaging	Het
Zfp638	C	A	6: 83,943,421 (GRCm39)		probably benign	Het
Zfp644	A	G	5: 106,785,110 (GRCm39)	M479T	possibly damaging	Het
Zfp951	G	A	5: 104,963,143 (GRCm39)	T141I	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
IGL02797:Dnajc21	APN	15	10,461,441 (GRCm39)	missense	probably damaging	0.96
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
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

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