Mutagenetix > Incidental Mutation

Incidental Mutation 'R5187:Dnajc21'

397982

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

042766-MU

Accession Numbers

Essential gene?

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

Stock #

R5187 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

10446842-10470602 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 10464050 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 38 (N38K)

Ref Sequence

ENSEMBL: ENSMUSP00000116865 (fasta)

Gene Model

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

AlphaFold

E9Q8D0

Predicted Effect

probably benign
Transcript: ENSMUST00000136591
AA Change: N38K

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000116865
Gene: ENSMUSG00000044224
AA Change: N38K

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

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Abcg5	A	G	17: 84,965,992 (GRCm39)	L628S	probably damaging	Het
Acbd3	C	T	1: 180,564,297 (GRCm39)	R201*	probably null	Het
Adsl	A	G	15: 80,833,106 (GRCm39)		probably benign	Het
Asic1	GCACC	GCACCACC	15: 99,596,684 (GRCm39)		probably benign	Het
Cachd1	T	C	4: 100,823,397 (GRCm39)	V483A	possibly damaging	Het
Calm1	T	C	12: 100,166,472 (GRCm39)	S19P	probably benign	Het
Casq1	T	C	1: 172,040,641 (GRCm39)	N313S	possibly damaging	Het
Cav2	G	T	6: 17,286,935 (GRCm39)	A64S	possibly damaging	Het
Ccdc167	C	A	17: 29,924,485 (GRCm39)	A39S	possibly damaging	Het
Cd274	T	C	19: 29,359,936 (GRCm39)	L247P	probably benign	Het
Cdhr5	T	C	7: 140,854,361 (GRCm39)	E138G	probably damaging	Het
Cltb	C	T	13: 54,741,693 (GRCm39)	C81Y	probably benign	Het
Clvs1	T	C	4: 9,281,865 (GRCm39)	L103P	possibly damaging	Het
Cntrob	G	T	11: 69,212,717 (GRCm39)	Q106K	possibly damaging	Het
Ctsh	T	C	9: 89,936,643 (GRCm39)	L14P	probably damaging	Het
Cubn	T	C	2: 13,292,379 (GRCm39)	N3268S	probably damaging	Het
Cyb5r4	T	C	9: 86,909,001 (GRCm39)	V26A	possibly damaging	Het
Ddx18	A	G	1: 121,489,857 (GRCm39)	I184T	probably damaging	Het
Ddx60	T	A	8: 62,427,222 (GRCm39)	W766R	probably damaging	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Dnah5	G	A	15: 28,272,318 (GRCm39)	V1041I	probably benign	Het
Ermap	T	C	4: 119,043,015 (GRCm39)		probably null	Het
Fryl	A	G	5: 73,243,943 (GRCm39)	L1209P	possibly damaging	Het
Gm5093	T	C	17: 46,750,799 (GRCm39)	E76G	possibly damaging	Het
Grk6	T	C	13: 55,599,519 (GRCm39)	C169R	probably damaging	Het
Hmgn1	A	T	16: 95,923,627 (GRCm39)		probably null	Het
Lpcat2b	T	A	5: 107,582,001 (GRCm39)	Y443*	probably null	Het
Macf1	T	A	4: 123,365,882 (GRCm39)	M1395L	probably benign	Het
Mllt10	C	T	2: 18,213,585 (GRCm39)	Q997*	probably null	Het
Mocos	T	A	18: 24,825,611 (GRCm39)	V722E	probably damaging	Het
Moxd2	A	T	6: 40,856,271 (GRCm39)	L534M	probably benign	Het
Mphosph10	T	C	7: 64,035,568 (GRCm39)	M368V	possibly damaging	Het
Myo15a	G	A	11: 60,394,440 (GRCm39)	G2383D	probably damaging	Het
Myo5b	T	C	18: 74,834,745 (GRCm39)	I935T	possibly damaging	Het
Ndst4	T	A	3: 125,231,560 (GRCm39)	L43H	probably damaging	Het
Niban1	T	A	1: 151,579,580 (GRCm39)	L433Q	possibly damaging	Het
Nsl1	A	G	1: 190,807,387 (GRCm39)	N189D	probably benign	Het
Odad1	A	G	7: 45,578,540 (GRCm39)	I77V	probably damaging	Het
Or51e1	A	T	7: 102,358,868 (GRCm39)	H134L	probably damaging	Het
Pcdh8	T	C	14: 80,007,594 (GRCm39)	D323G	probably damaging	Het
Pkhd1	A	G	1: 20,279,448 (GRCm39)	S2957P	possibly damaging	Het
Prdm9	T	G	17: 15,783,155 (GRCm39)	E42D	probably damaging	Het
Rasal1	C	A	5: 120,813,460 (GRCm39)	H611Q	probably benign	Het
Relch	T	A	1: 105,646,534 (GRCm39)	L620*	probably null	Het
Rif1	T	A	2: 51,971,301 (GRCm39)	W260R	probably damaging	Het
Rpain	A	G	11: 70,864,658 (GRCm39)	D115G	probably benign	Het
Rpl3l	T	C	17: 24,951,429 (GRCm39)	V110A	possibly damaging	Het
Ryr2	T	A	13: 11,787,338 (GRCm39)	I1012F	probably damaging	Het
Sema4f	A	G	6: 82,894,631 (GRCm39)	V480A	probably benign	Het
Slc35a3	T	A	3: 116,474,794 (GRCm39)	K199N	probably damaging	Het
Slc5a6	T	C	5: 31,200,322 (GRCm39)	Y121C	probably damaging	Het
Slc7a14	T	C	3: 31,291,514 (GRCm39)		probably null	Het
Sort1	T	A	3: 108,231,992 (GRCm39)	I172N	probably damaging	Het
Spink5	C	A	18: 44,122,518 (GRCm39)	H328N	probably damaging	Het
Tbl1xr1	A	G	3: 22,263,770 (GRCm39)	D504G	probably damaging	Het
Tcaf3	C	T	6: 42,573,954 (GRCm39)	C86Y	possibly damaging	Het
Tfap2e	T	C	4: 126,628,434 (GRCm39)	D174G	probably benign	Het
Tmem42	T	C	9: 122,851,232 (GRCm39)	V65A	probably damaging	Het
Vmn1r225	C	G	17: 20,723,177 (GRCm39)	T206R	probably damaging	Het
Vmn2r38	A	G	7: 9,100,571 (GRCm39)	F65S	probably benign	Het
Vmn2r87	A	T	10: 130,333,208 (GRCm39)	L14Q	probably null	Het
Xirp2	T	C	2: 67,345,711 (GRCm39)	S2651P	probably benign	Het
Zfp429	G	A	13: 67,538,959 (GRCm39)	L162F	probably damaging	Het
Zhx1	A	T	15: 57,915,819 (GRCm39)	M809K	probably damaging	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
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
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'- ACTCCCAACCACTCAGTGTG -3'
(R):5'- TTTGCAGTTAAGGAAGCATGACC -3'

Sequencing Primer
(F):5'- CACTCAGTGTGGTAAACTGTTAAG -3'
(R):5'- TCAGTGATTGAACTCAGGCC -3'

Posted On

2016-07-06