Mutagenetix > Incidental Mutation

Incidental Mutation 'R0032:Dnajc21'

59438

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

038326-MU

Accession Numbers

Essential gene?

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

Stock #

R0032 (G1) of strain 731

Quality Score

218

Status

Validated

Chromosome

Chromosomal Location

10446842-10470602 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 10461963 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 146 (T146K)

Ref Sequence

ENSEMBL: ENSMUSP00000116865 (fasta)

Gene Model

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

AlphaFold

E9Q8D0

Predicted Effect

probably benign
Transcript: ENSMUST00000136591
AA Change: T146K

PolyPhen 2 Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000116865
Gene: ENSMUSG00000044224
AA Change: T146K

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

0.0840

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.4%
20x: 94.8%

Validation Efficiency

100% (89/89)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss3	T	A	10: 106,959,156 (GRCm39)	T97S	probably benign	Het
Adcy1	T	C	11: 7,094,729 (GRCm39)	S552P	possibly damaging	Het
Arrb1	T	C	7: 99,231,472 (GRCm39)	F9L	probably damaging	Het
Auts2	G	C	5: 131,468,931 (GRCm39)	D571E	probably damaging	Het
C2cd3	T	A	7: 100,093,652 (GRCm39)		probably benign	Het
Ccbe1	T	G	18: 66,424,723 (GRCm39)	T35P	possibly damaging	Het
Cct6b	G	T	11: 82,644,469 (GRCm39)	T202K	possibly damaging	Het
Cd86	A	T	16: 36,441,235 (GRCm39)	S77R	probably damaging	Het
Cdk5rap3	A	T	11: 96,799,579 (GRCm39)	L412Q	possibly damaging	Het
Cdsn	G	A	17: 35,866,452 (GRCm39)	G327D	probably damaging	Het
Cfap54	C	T	10: 92,768,559 (GRCm39)	R188H	probably benign	Het
Clca3a2	T	A	3: 144,522,494 (GRCm39)	I176F	probably benign	Het
Cop1	T	C	1: 159,152,606 (GRCm39)		probably null	Het
Cpne8	T	A	15: 90,453,771 (GRCm39)		probably benign	Het
Ctsg	T	A	14: 56,339,196 (GRCm39)	I21F	probably damaging	Het
Cyp2j9	T	G	4: 96,457,043 (GRCm39)	N476T	possibly damaging	Het
Dcaf4	G	A	12: 83,582,762 (GRCm39)		probably benign	Het
Dennd4c	T	C	4: 86,746,387 (GRCm39)		probably null	Het
Des	A	G	1: 75,338,810 (GRCm39)	E195G	possibly damaging	Het
Dicer1	A	T	12: 104,671,057 (GRCm39)	L995*	probably null	Het
Dnah10	A	G	5: 124,877,955 (GRCm39)	K2623R	possibly damaging	Het
Dnmbp	A	C	19: 43,891,158 (GRCm39)	L203R	probably damaging	Het
Eif4g1	C	T	16: 20,504,648 (GRCm39)	S829F	probably damaging	Het
Enkur	T	C	2: 21,194,115 (GRCm39)	I153V	probably benign	Het
Epb41l3	G	T	17: 69,517,379 (GRCm39)		probably null	Het
Erf	T	C	7: 24,944,500 (GRCm39)	Y277C	possibly damaging	Het
Fcsk	G	A	8: 111,618,735 (GRCm39)	T341M	possibly damaging	Het
Fstl5	T	A	3: 76,555,742 (GRCm39)		probably benign	Het
Galnt16	T	C	12: 80,639,243 (GRCm39)	V419A	probably damaging	Het
Gm10226	A	G	17: 21,910,963 (GRCm39)	D66G	possibly damaging	Het
Gm15821	T	A	17: 34,431,199 (GRCm39)		probably benign	Het
Grm3	A	G	5: 9,561,452 (GRCm39)		probably null	Het
Il11ra1	A	G	4: 41,768,187 (GRCm39)	E366G	probably damaging	Het
Impdh2	A	G	9: 108,438,860 (GRCm39)	D71G	probably damaging	Het
Ipo11	A	C	13: 106,970,971 (GRCm39)		probably benign	Het
Ipo8	A	G	6: 148,712,209 (GRCm39)	C261R	probably damaging	Het
Iqsec3	T	C	6: 121,450,089 (GRCm39)	D145G	possibly damaging	Het
Itga11	T	C	9: 62,681,377 (GRCm39)	F998L	probably benign	Het
Junb	T	C	8: 85,704,415 (GRCm39)	H215R	probably benign	Het
Kcnh4	C	T	11: 100,637,758 (GRCm39)	G633E	probably benign	Het
Kcnn3	CGCAGCAGCAGCAGCAGCAGCAG	CGCAGCAGCAGCAGCAGCAG	3: 89,427,972 (GRCm39)		probably benign	Het
Krt73	T	C	15: 101,702,487 (GRCm39)	S459G	probably benign	Het
Krt74	T	A	15: 101,669,887 (GRCm39)		noncoding transcript	Het
Meis3	C	A	7: 15,916,210 (GRCm39)		probably benign	Het
Mlh3	A	G	12: 85,292,523 (GRCm39)		probably benign	Het
Mroh2a	GT	GTT	1: 88,183,888 (GRCm39)		probably null	Het
Naip6	C	T	13: 100,439,745 (GRCm39)	E341K	probably benign	Het
Nbeal2	G	T	9: 110,466,936 (GRCm39)		probably benign	Het
Nfx1	T	A	4: 41,015,321 (GRCm39)	V842E	probably benign	Het
Oma1	T	A	4: 103,223,209 (GRCm39)	S465T	possibly damaging	Het
Opa1	A	T	16: 29,433,887 (GRCm39)	H574L	probably damaging	Het
Or10al2	T	A	17: 37,983,378 (GRCm39)	W155R	probably damaging	Het
Or6c210	T	A	10: 129,496,269 (GRCm39)	V198D	probably benign	Het
Or8c13	A	G	9: 38,091,904 (GRCm39)	C72R	probably damaging	Het
Otog	T	A	7: 45,937,637 (GRCm39)	L1782*	probably null	Het
Otog	G	A	7: 45,953,655 (GRCm39)	V2638M	probably damaging	Het
Pcsk5	T	C	19: 17,542,179 (GRCm39)	N804S	possibly damaging	Het
Pde4a	C	A	9: 21,112,728 (GRCm39)		probably benign	Het
Pilra	T	A	5: 137,829,527 (GRCm39)	D179V	probably damaging	Het
Piwil1	G	A	5: 128,820,344 (GRCm39)	S247N	probably benign	Het
Ppp2r1a	G	A	17: 21,165,846 (GRCm39)		probably benign	Het
Prss58	T	G	6: 40,872,633 (GRCm39)	T158P	probably benign	Het
Setmar	T	A	6: 108,053,377 (GRCm39)	C290*	probably null	Het
Slc35e3	T	C	10: 117,580,837 (GRCm39)	M156V	probably benign	Het
Slc4a5	T	A	6: 83,250,139 (GRCm39)	I509N	probably damaging	Het
Slit2	G	A	5: 48,414,198 (GRCm39)	R938Q	probably damaging	Het
Snrpn	A	G	7: 59,634,830 (GRCm39)	Y168H	probably damaging	Het
Sycn	C	T	7: 28,240,717 (GRCm39)	A128V	possibly damaging	Het
Synm	C	A	7: 67,383,675 (GRCm39)	R1329M	possibly damaging	Het
Syt8	T	C	7: 141,992,926 (GRCm39)	V152A	probably benign	Het
Tcp10a	T	C	17: 7,604,306 (GRCm39)	M247T	probably benign	Het
Tjp2	A	G	19: 24,086,059 (GRCm39)	L821S	probably damaging	Het
Tppp2	G	T	14: 52,156,866 (GRCm39)	R81L	possibly damaging	Het
Trim34b	A	G	7: 103,985,784 (GRCm39)	D473G	possibly damaging	Het
Trpc3	A	G	3: 36,698,405 (GRCm39)	I618T	probably damaging	Het
Trpm5	A	T	7: 142,638,978 (GRCm39)	D264E	probably damaging	Het
Tuba8	A	T	6: 121,202,863 (GRCm39)	D392V	probably benign	Het
Vmn1r50	C	A	6: 90,084,782 (GRCm39)	P176T	probably damaging	Het
Vmn1r76	T	C	7: 11,665,194 (GRCm39)	I7V	probably benign	Het
Vmn2r26	T	A	6: 124,016,858 (GRCm39)	W441R	possibly damaging	Het
Vmn2r57	T	C	7: 41,049,157 (GRCm39)		probably null	Het
Zc3h4	T	A	7: 16,168,565 (GRCm39)	D891E	unknown	Het
Zfp120	A	T	2: 149,959,512 (GRCm39)	V270E	possibly damaging	Het
Znhit1	G	C	5: 137,013,901 (GRCm39)	R8G	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- AAACTCTGCCAGTGAGCGTAGAAAG -3'
(R):5'- TTGTACTGCCTCAGCACTAAAGCC -3'

Sequencing Primer
(F):5'- gttctaccactaaagcacaactc -3'
(R):5'- AGCACTAAAGCCTGTTTTCTGTG -3'

Posted On

2013-07-11