Mutagenetix > Incidental Mutation

Incidental Mutation 'R5729:Dnajc21'

452680

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

043346-MU

Accession Numbers

Essential gene?

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

Stock #

R5729 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10446842-10470602 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 10449682 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 446 (D446E)

Ref Sequence

ENSEMBL: ENSMUSP00000116865 (fasta)

Gene Model

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

AlphaFold

E9Q8D0

Predicted Effect

probably benign
Transcript: ENSMUST00000136591
AA Change: D446E

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000116865
Gene: ENSMUSG00000044224
AA Change: D446E

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: ENSMUST00000146323

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147224

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150878

Meta Mutation Damage Score

0.0725

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 95.2%

Validation Efficiency

97% (62/64)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adss2	A	T	1: 177,623,824 (GRCm39)	V46E	possibly damaging	Het
Aldoart2	T	C	12: 55,612,690 (GRCm39)	V205A	probably benign	Het
Atp1a2	A	G	1: 172,120,938 (GRCm39)	S45P	probably damaging	Het
Atp4a	A	G	7: 30,411,851 (GRCm39)	K29E	possibly damaging	Het
AU040320	T	A	4: 126,724,208 (GRCm39)	D428E	probably damaging	Het
Bend7	T	C	2: 4,768,085 (GRCm39)	L347P	probably damaging	Het
Cacna2d1	T	A	5: 16,140,037 (GRCm39)	L9*	probably null	Het
Ccdc103	A	T	11: 102,773,904 (GRCm39)	I50F	probably damaging	Het
Cdc5l	T	C	17: 45,737,495 (GRCm39)	I88V	probably benign	Het
Cracr2a	T	C	6: 127,584,199 (GRCm39)	V86A	possibly damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dgkd	C	T	1: 87,864,054 (GRCm39)	Q90*	probably null	Het
Fam13a	T	G	6: 58,916,292 (GRCm39)	R648S	probably damaging	Het
Gabrg2	A	G	11: 41,858,450 (GRCm39)	V226A	probably damaging	Het
Gm5499	A	T	17: 87,385,944 (GRCm39)		noncoding transcript	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Irf2bp1	G	T	7: 18,739,172 (GRCm39)	E271*	probably null	Het
Krt86	T	G	15: 101,374,429 (GRCm39)	V274G	probably benign	Het
Lats2	A	T	14: 57,960,192 (GRCm39)	C151S	probably benign	Het
Mapk3	A	T	7: 126,363,979 (GRCm39)	T254S	probably benign	Het
Mat2b	A	T	11: 40,573,373 (GRCm39)	M202K	probably damaging	Het
Mos	A	G	4: 3,870,971 (GRCm39)	Y282H	probably benign	Het
Myo3b	A	G	2: 69,936,083 (GRCm39)	K108R	probably damaging	Het
Naa16	A	G	14: 79,593,220 (GRCm39)	Y417H	probably damaging	Het
Oat	A	T	7: 132,159,984 (GRCm39)	I412N	probably damaging	Het
Or4d11	A	T	19: 12,013,272 (GRCm39)	I278N	probably damaging	Het
Pcdh1	A	T	18: 38,335,999 (GRCm39)	V73D	probably damaging	Het
Pigv	A	T	4: 133,392,134 (GRCm39)	Y345*	probably null	Het
Pitpnc1	G	T	11: 107,228,264 (GRCm39)	F34L	probably benign	Het
Plxnd1	A	G	6: 115,942,838 (GRCm39)	L1282P	probably damaging	Het
Ppp1r3a	T	C	6: 14,719,762 (GRCm39)	D384G	probably benign	Het
Ppp2ca	G	A	11: 52,008,856 (GRCm39)	E119K	probably damaging	Het
Psg29	A	T	7: 16,944,459 (GRCm39)	N323I	probably damaging	Het
Rasa4	T	C	5: 136,122,016 (GRCm39)	V108A	probably benign	Het
Rbm14	A	G	19: 4,852,577 (GRCm39)		probably benign	Het
Rfc1	A	T	5: 65,434,795 (GRCm39)	V657E	probably damaging	Het
Rhcg	A	T	7: 79,250,371 (GRCm39)	N237K	probably damaging	Het
Rpgrip1	A	G	14: 52,397,617 (GRCm39)	Q1302R	probably benign	Het
Rragc	A	G	4: 123,818,645 (GRCm39)	M287V	possibly damaging	Het
Scn7a	A	G	2: 66,572,301 (GRCm39)		probably null	Het
Sema6a	C	T	18: 47,414,410 (GRCm39)	C506Y	probably damaging	Het
Senp1	G	T	15: 97,964,412 (GRCm39)	H267Q	possibly damaging	Het
Skor2	A	G	18: 76,946,578 (GRCm39)	E100G	unknown	Het
Slc38a11	A	T	2: 65,147,365 (GRCm39)	C371S	probably benign	Het
Snai3	G	A	8: 123,181,629 (GRCm39)	A276V	probably benign	Het
Sp110	C	G	1: 85,516,839 (GRCm39)	E219D	probably damaging	Het
Spag6	C	T	2: 18,720,525 (GRCm39)	T99I	probably benign	Het
Spop	A	G	11: 95,376,675 (GRCm39)	I243V	possibly damaging	Het
Sra1	A	T	18: 36,800,496 (GRCm39)		probably benign	Het
Stag3	T	A	5: 138,288,485 (GRCm39)	S140T	possibly damaging	Het
Stx16	G	A	2: 173,935,292 (GRCm39)	G156R	probably damaging	Het
Tbc1d2b	G	C	9: 90,089,925 (GRCm39)	A868G	probably benign	Het
Tead2	A	G	7: 44,870,166 (GRCm39)		probably benign	Het
Tmem53	C	A	4: 117,125,669 (GRCm39)	H261N	probably damaging	Het
Ube4a	A	T	9: 44,844,627 (GRCm39)	S932T	probably damaging	Het
Usp9y	A	T	Y: 1,381,339 (GRCm39)	D827E	probably damaging	Het
Vmn2r53	T	C	7: 12,334,733 (GRCm39)	E309G	probably damaging	Het
Wrn	T	C	8: 33,758,806 (GRCm39)	S1026G	probably benign	Het
Zfp646	G	A	7: 127,484,626 (GRCm39)	A1760T	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
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'- GCACAATGTCACCTCACATCT -3'
(R):5'- TCTCATTCCACATATTGACTTACCA -3'

Sequencing Primer
(F):5'- CATCTGTGTGTGATTGTGTGGCTAC -3'
(R):5'- AGGAGGAAAGATTGCTCC -3'

Posted On

2017-01-03