Mutagenetix > Incidental Mutation

Incidental Mutation 'R7016:Dnajc21'

545339

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

045117-MU

Accession Numbers

Essential gene?

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

Stock #

R7016 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10446842-10470602 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 10461493 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 152 (Y152*)

Ref Sequence

ENSEMBL: ENSMUSP00000116865 (fasta)

Gene Model

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

AlphaFold

E9Q8D0

Predicted Effect

probably null
Transcript: ENSMUST00000136591
AA Change: Y152*

SMART Domains

Protein: ENSMUSP00000116865
Gene: ENSMUSG00000044224
AA Change: Y152*

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

98% (63/64)

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
Abcb4	T	A	5: 8,986,843 (GRCm39)	V754D	probably benign	Het
Actn1	T	A	12: 80,219,742 (GRCm39)	M710L	possibly damaging	Het
Adam1a	A	G	5: 121,659,101 (GRCm39)	F64S	probably benign	Het
Aip	G	T	19: 4,171,402 (GRCm39)	D11E	probably benign	Het
Ak7	T	A	12: 105,747,938 (GRCm39)	Y714*	probably null	Het
Amhr2	A	G	15: 102,362,799 (GRCm39)	E522G	possibly damaging	Het
Amotl1	A	G	9: 14,504,995 (GRCm39)	L108P	probably damaging	Het
Arhgef17	A	G	7: 100,528,184 (GRCm39)	S677P	probably benign	Het
Asph	T	C	4: 9,630,604 (GRCm39)		probably null	Het
Atp11b	T	C	3: 35,895,185 (GRCm39)	S908P	probably benign	Het
Atp13a3	C	A	16: 30,157,308 (GRCm39)	V903L	possibly damaging	Het
Bcam	G	A	7: 19,492,368 (GRCm39)	R576*	probably null	Het
Btbd2	A	G	10: 80,484,449 (GRCm39)	S141P	probably damaging	Het
Cacna1b	T	C	2: 24,652,860 (GRCm39)	N67S	possibly damaging	Het
Cc2d2b	A	G	19: 40,784,248 (GRCm39)	T872A	possibly damaging	Het
Ccdc24	T	A	4: 117,728,313 (GRCm39)	I144F	probably null	Het
Cep44	A	T	8: 56,997,234 (GRCm39)	F101L	possibly damaging	Het
Cfap410	T	A	10: 77,818,790 (GRCm39)	C154S	probably benign	Het
Cimap1d	T	C	10: 79,475,790 (GRCm39)	Y258C	probably damaging	Het
Disp1	C	A	1: 182,869,030 (GRCm39)	R1130L	probably damaging	Het
Edem2	A	G	2: 155,557,992 (GRCm39)	F214L	possibly damaging	Het
Fam118b	G	A	9: 35,135,014 (GRCm39)	R198W	probably damaging	Het
Fgb	A	G	3: 82,953,371 (GRCm39)	V133A	probably benign	Het
Fsip2	A	G	2: 82,820,979 (GRCm39)	T5571A	probably benign	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,554 (GRCm39)		probably benign	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,193,999 (GRCm39)		probably benign	Het
Hjurp	TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT	TCT	1: 88,194,000 (GRCm39)		probably benign	Het
Hnf4a	T	A	2: 163,406,193 (GRCm39)	Y277N	probably damaging	Het
Htatip2	A	G	7: 49,420,583 (GRCm39)	D143G	possibly damaging	Het
Itgae	A	G	11: 73,010,342 (GRCm39)	N611D	probably damaging	Het
Ksr1	A	T	11: 78,918,362 (GRCm39)	N515K	probably damaging	Het
Lrp1	C	A	10: 127,395,836 (GRCm39)		probably null	Het
Map3k20	T	A	2: 72,208,979 (GRCm39)	V195D	probably damaging	Het
Meox2	A	G	12: 37,159,223 (GRCm39)	S132G	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Nell2	T	A	15: 95,127,032 (GRCm39)	N781I	possibly damaging	Het
Or12d16-ps1	G	A	17: 37,706,094 (GRCm39)	G221D	possibly damaging	Het
Or13a22	A	G	7: 140,073,153 (GRCm39)	T201A	probably benign	Het
Or51m1	A	G	7: 103,578,737 (GRCm39)	I236V	probably benign	Het
Or5e1	A	G	7: 108,354,918 (GRCm39)	N285S	probably damaging	Het
Otoa	A	T	7: 120,746,989 (GRCm39)	Q918L	probably damaging	Het
Palld	T	G	8: 61,969,032 (GRCm39)	K1022T	probably damaging	Het
Parp8	A	T	13: 117,031,627 (GRCm39)	S362T	probably damaging	Het
Phrf1	A	G	7: 140,817,476 (GRCm39)	E95G	probably damaging	Het
Pls1	A	T	9: 95,668,994 (GRCm39)	F76I	probably damaging	Het
Pnp	T	A	14: 51,187,706 (GRCm39)		probably null	Het
Ptdss1	A	C	13: 67,120,685 (GRCm39)	M294L	probably benign	Het
Rictor	T	A	15: 6,804,361 (GRCm39)		probably null	Het
Rilp	A	G	11: 75,401,745 (GRCm39)	E175G	probably damaging	Het
Serpina16	T	A	12: 103,641,630 (GRCm39)	T32S	probably benign	Het
Sim1	C	T	10: 50,860,346 (GRCm39)	S736L	probably benign	Het
Smarcc2	T	G	10: 128,321,198 (GRCm39)		probably null	Het
Smtn	A	G	11: 3,480,368 (GRCm39)		probably null	Het
Sspo	T	A	6: 48,426,098 (GRCm39)	W98R	probably damaging	Het
St8sia3	A	T	18: 64,402,654 (GRCm39)	I98F	probably benign	Het
Taf10	A	T	7: 105,393,205 (GRCm39)		probably null	Het
Tasor2	A	T	13: 3,626,857 (GRCm39)	V1031E	possibly damaging	Het
Tbc1d4	T	A	14: 101,724,877 (GRCm39)	N580I	probably damaging	Het
Trim12c	A	T	7: 103,997,413 (GRCm39)	C48S		Het
Tsc22d1	C	A	14: 76,654,982 (GRCm39)	T405K	probably damaging	Het
Tubgcp5	A	G	7: 55,443,977 (GRCm39)	D2G	possibly damaging	Het
Wwc2	T	C	8: 48,300,583 (GRCm39)	E960G	unknown	Het
Yme1l1	T	A	2: 23,076,367 (GRCm39)		probably null	Het
Zbtb2	G	C	10: 4,318,646 (GRCm39)	P460R	probably damaging	Het
Zfp62	T	G	11: 49,106,764 (GRCm39)	I285S	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
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
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'- AATGAAGGCTACCAGCTGG -3'
(R):5'- AACTGCCTTCTTGTCCAGTG -3'

Sequencing Primer
(F):5'- GGCGCACCAGTTCATTTTTC -3'
(R):5'- GCCTTCTTGTCCAGTGATTGACG -3'

Posted On

2019-05-13