Mutagenetix > Incidental Mutation

Incidental Mutation 'R2437:Dnajc2'

249646

Institutional Source

Beutler Lab

Gene Symbol

Dnajc2

Ensembl Gene

ENSMUSG00000029014

Gene Name

DnaJ heat shock protein family (Hsp40) member C2

Synonyms

Zrf1, Zrf2, MIDA1, Mida1

MMRRC Submission

040398-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

R2437 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21962279-21990183 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 21965389 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 537 (S537R)

Ref Sequence

ENSEMBL: ENSMUSP00000110847 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030771] [ENSMUST00000030882] [ENSMUST00000115193] [ENSMUST00000115195]

AlphaFold

P54103

Predicted Effect

probably benign
Transcript: ENSMUST00000030771
AA Change: S537R

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000030771
Gene: ENSMUSG00000029014
AA Change: S537R

Domain	Start	End	E-Value	Type
coiled coil region	39	67	N/A	INTRINSIC
DnaJ	87	153	2.16e-18	SMART
low complexity region	231	245	N/A	INTRINSIC
low complexity region	281	319	N/A	INTRINSIC
Pfam:RAC_head	339	430	2.8e-24	PFAM
SANT	450	509	6.64e-10	SMART
SANT	550	602	2.4e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000030882

SMART Domains

Protein: ENSMUSP00000030882
Gene: ENSMUSG00000029017

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
Pfam:Peptidase_M16	68	215	6.1e-59	PFAM
Pfam:Peptidase_M16_C	220	404	4.1e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115193
AA Change: S537R

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000110847
Gene: ENSMUSG00000029014
AA Change: S537R

Domain	Start	End	E-Value	Type
coiled coil region	39	67	N/A	INTRINSIC
DnaJ	87	153	2.16e-18	SMART
coiled coil region	230	358	N/A	INTRINSIC
coiled coil region	404	445	N/A	INTRINSIC
SANT	450	509	6.64e-10	SMART
SANT	550	602	1.34e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115195
AA Change: S463R

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000110849
Gene: ENSMUSG00000029014
AA Change: S463R

Domain	Start	End	E-Value	Type
DnaJ	13	79	2.16e-18	SMART
coiled coil region	156	284	N/A	INTRINSIC
coiled coil region	330	371	N/A	INTRINSIC
SANT	376	435	6.64e-10	SMART
SANT	476	528	2.4e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125693

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132962

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137334

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152440

Predicted Effect

probably benign
Transcript: ENSMUST00000141022

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.0%

Validation Efficiency

100% (75/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the M-phase phosphoprotein (MPP) family. The gene encodes a phosphoprotein with a J domain and a Myb DNA-binding domain which localizes to both the nucleus and the cytosol. The protein is capable of forming a heterodimeric complex that associates with ribosomes, acting as a molecular chaperone for nascent polypeptide chains as they exit the ribosome. This protein was identified as a leukemia-associated antigen and expression of the gene is upregulated in leukemic blasts. Also, chromosomal aberrations involving this gene are associated with primary head and neck squamous cell tumors. This gene has a pseudogene on chromosome 6. Alternatively spliced variants which encode different protein isoforms have been described. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	A	G	4: 148,031,075 (GRCm39)	*635W	probably null	Het
Anxa2	A	G	9: 69,397,046 (GRCm39)	Y317C	probably damaging	Het
Arhgef26	T	C	3: 62,340,002 (GRCm39)	S675P	probably damaging	Het
Bltp1	T	A	3: 37,012,834 (GRCm39)		probably null	Het
Camk2d	A	G	3: 126,628,277 (GRCm39)	N53S	probably damaging	Het
Carns1	A	T	19: 4,215,782 (GRCm39)	M800K	possibly damaging	Het
Ces1f	A	T	8: 93,996,767 (GRCm39)		probably null	Het
Chrne	T	A	11: 70,506,086 (GRCm39)	D426V	possibly damaging	Het
Cntfr	T	C	4: 41,671,035 (GRCm39)	T43A	probably damaging	Het
Cntn5	A	T	9: 10,048,758 (GRCm39)	C63*	probably null	Het
Col12a1	G	A	9: 79,599,501 (GRCm39)	T884I	probably damaging	Het
Dnah5	T	C	15: 28,307,537 (GRCm39)		probably null	Het
Dnajc25	T	C	4: 59,020,234 (GRCm39)	I100T	probably damaging	Het
Ephx1	C	A	1: 180,823,661 (GRCm39)	G149C	probably damaging	Het
Fam163b	G	T	2: 27,002,698 (GRCm39)	P100T	probably damaging	Het
Fbxl9	A	G	8: 106,039,675 (GRCm39)		probably null	Het
Fgd5	A	T	6: 92,039,850 (GRCm39)	R1017*	probably null	Het
Fibin	A	T	2: 110,192,848 (GRCm39)	L98Q	probably damaging	Het
Fndc3b	A	T	3: 27,505,481 (GRCm39)	L929H	probably damaging	Het
Frem1	T	A	4: 82,918,410 (GRCm39)	S512C	probably damaging	Het
Gm4922	T	A	10: 18,659,829 (GRCm39)	M298L	probably benign	Het
Gstm2	G	A	3: 107,891,369 (GRCm39)		probably benign	Het
Gtf3c2	A	G	5: 31,317,042 (GRCm39)		probably null	Het
Ibtk	A	C	9: 85,590,178 (GRCm39)	L1026V	probably benign	Het
Il9	T	A	13: 56,629,684 (GRCm39)		probably benign	Het
Inpp4a	T	C	1: 37,432,037 (GRCm39)	S146P	probably damaging	Het
Kcnab1	G	T	3: 65,264,435 (GRCm39)		probably benign	Het
Mgat4c	T	C	10: 102,224,436 (GRCm39)	S217P	probably damaging	Het
Mr1	T	C	1: 155,008,277 (GRCm39)	M233V	probably benign	Het
Ncoa2	G	A	1: 13,218,584 (GRCm39)	T1415I	probably damaging	Het
Oasl2	G	A	5: 115,049,357 (GRCm39)	D486N	probably benign	Het
Or1j14	A	T	2: 36,418,258 (GRCm39)	Y278F	probably damaging	Het
Or9a7	G	A	6: 40,521,856 (GRCm39)	T19I	probably benign	Het
Or9s27	T	C	1: 92,516,688 (GRCm39)	I212T	possibly damaging	Het
Pcnx4	T	C	12: 72,588,587 (GRCm39)	F132L	probably damaging	Het
Pde5a	T	A	3: 122,636,702 (GRCm39)	L717Q	probably damaging	Het
Peli2	A	T	14: 48,465,389 (GRCm39)		probably benign	Het
Phf14	A	G	6: 11,962,657 (GRCm39)	S435G	probably damaging	Het
Plekhg1	T	A	10: 3,913,564 (GRCm39)	H1095Q	probably damaging	Het
Plekhh2	A	G	17: 84,893,907 (GRCm39)		probably null	Het
Plekho1	T	G	3: 95,899,497 (GRCm39)	N99H	probably damaging	Het
Plxnc1	T	A	10: 94,742,395 (GRCm39)	K457N	probably benign	Het
Ppp1r3a	T	C	6: 14,718,322 (GRCm39)	E864G	probably benign	Het
Prkab2	T	A	3: 97,574,715 (GRCm39)	L237Q	probably damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Ptger3	T	A	3: 157,273,207 (GRCm39)	C185S	probably damaging	Het
Ptprk	T	C	10: 28,230,709 (GRCm39)	Y267H	probably damaging	Het
Pum2	A	G	12: 8,794,654 (GRCm39)	I715V	probably benign	Het
R3hdm1	T	C	1: 128,114,573 (GRCm39)	V518A	probably damaging	Het
Rab3d	T	C	9: 21,827,147 (GRCm39)	I28V	probably damaging	Het
Rad54b	T	C	4: 11,606,272 (GRCm39)	L560P	probably damaging	Het
Rgs20	A	G	1: 5,140,370 (GRCm39)		probably null	Het
Sesn1	T	A	10: 41,781,315 (GRCm39)	L460H	probably damaging	Het
Slc39a14	A	G	14: 70,553,885 (GRCm39)		probably null	Het
Slco6c1	T	A	1: 96,990,201 (GRCm39)	H663L	probably benign	Het
Snx13	T	A	12: 35,132,926 (GRCm39)	C63S	probably benign	Het
Spmip4	T	A	6: 50,560,959 (GRCm39)	D212V	probably damaging	Het
Strip2	T	C	6: 29,941,940 (GRCm39)		probably null	Het
Syncrip	A	G	9: 88,361,620 (GRCm39)		probably benign	Het
Taf15	A	G	11: 83,395,579 (GRCm39)		probably benign	Het
Tbc1d8	T	C	1: 39,444,368 (GRCm39)		probably null	Het
Tgm4	T	A	9: 122,877,614 (GRCm39)	C205*	probably null	Het
Tmem212	A	T	3: 27,940,628 (GRCm39)	L63Q	possibly damaging	Het
Tmem63a	G	A	1: 180,790,054 (GRCm39)		probably null	Het
Trpm5	C	A	7: 142,636,298 (GRCm39)	V525L	probably benign	Het
Ttn	A	G	2: 76,537,171 (GRCm39)	L34919P	probably damaging	Het
Ttn	T	C	2: 76,694,619 (GRCm39)		probably benign	Het
Tuba4a	T	C	1: 75,194,069 (GRCm39)	I4V	possibly damaging	Het
Ubr4	A	G	4: 139,200,853 (GRCm39)	D4679G	possibly damaging	Het
Usp2	T	G	9: 44,003,445 (GRCm39)	V448G	probably damaging	Het
Usp3	A	G	9: 66,453,024 (GRCm39)		probably null	Het
Zfp341	T	A	2: 154,470,721 (GRCm39)	V246E	probably damaging	Het

Other mutations in Dnajc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01313:Dnajc2	APN	5	21,979,974 (GRCm39)	missense	possibly damaging	0.83
IGL01479:Dnajc2	APN	5	21,962,891 (GRCm39)	missense	probably damaging	1.00
IGL01804:Dnajc2	APN	5	21,962,361 (GRCm39)	missense	probably damaging	1.00
IGL02478:Dnajc2	APN	5	21,981,788 (GRCm39)	missense	probably damaging	1.00
IGL02552:Dnajc2	APN	5	21,988,061 (GRCm39)	missense	probably damaging	1.00
IGL02657:Dnajc2	APN	5	21,975,479 (GRCm39)	splice site	probably benign
IGL02832:Dnajc2	APN	5	21,965,408 (GRCm39)	missense	probably benign
IGL03177:Dnajc2	APN	5	21,980,079 (GRCm39)	splice site	probably benign
R1914:Dnajc2	UTSW	5	21,986,317 (GRCm39)	critical splice donor site	probably null
R1915:Dnajc2	UTSW	5	21,986,317 (GRCm39)	critical splice donor site	probably null
R2024:Dnajc2	UTSW	5	21,981,788 (GRCm39)	missense	probably damaging	1.00
R4177:Dnajc2	UTSW	5	21,962,394 (GRCm39)	missense	probably benign	0.28
R4451:Dnajc2	UTSW	5	21,962,792 (GRCm39)	missense	possibly damaging	0.93
R4812:Dnajc2	UTSW	5	21,968,484 (GRCm39)	missense	probably benign	0.03
R4916:Dnajc2	UTSW	5	21,962,338 (GRCm39)	missense	probably damaging	1.00
R5013:Dnajc2	UTSW	5	21,962,771 (GRCm39)	nonsense	probably null
R5094:Dnajc2	UTSW	5	21,981,730 (GRCm39)	missense	probably damaging	1.00
R5124:Dnajc2	UTSW	5	21,968,482 (GRCm39)	missense	probably benign
R5891:Dnajc2	UTSW	5	21,966,709 (GRCm39)	missense	possibly damaging	0.67
R6192:Dnajc2	UTSW	5	21,973,646 (GRCm39)	missense	probably damaging	1.00
R6567:Dnajc2	UTSW	5	21,971,676 (GRCm39)	missense	probably damaging	1.00
R7211:Dnajc2	UTSW	5	21,981,777 (GRCm39)	missense	probably damaging	1.00
R7216:Dnajc2	UTSW	5	21,981,777 (GRCm39)	missense	probably damaging	1.00
R7418:Dnajc2	UTSW	5	21,965,622 (GRCm39)	critical splice donor site	probably null
R7728:Dnajc2	UTSW	5	21,975,538 (GRCm39)	missense	possibly damaging	0.62
R7877:Dnajc2	UTSW	5	21,965,637 (GRCm39)	missense	possibly damaging	0.88
R8156:Dnajc2	UTSW	5	21,986,317 (GRCm39)	critical splice donor site	probably null
R8231:Dnajc2	UTSW	5	21,966,689 (GRCm39)	missense	probably benign	0.00
R8360:Dnajc2	UTSW	5	21,962,705 (GRCm39)	missense	unknown
R8880:Dnajc2	UTSW	5	21,973,670 (GRCm39)	missense	probably damaging	1.00
R9648:Dnajc2	UTSW	5	21,968,478 (GRCm39)	missense	probably damaging	0.98
RF040:Dnajc2	UTSW	5	21,962,695 (GRCm39)	makesense	probably null
X0027:Dnajc2	UTSW	5	21,978,809 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- GGGCAGTTAAGTAAACCTGTTATC -3'
(R):5'- TCTGGCGTCAAAAGAACTGCC -3'

Sequencing Primer
(F):5'- CAGGTTAGAAGTATTTGCTTTGTCCC -3'
(R):5'- CATTTCTTAGACCCTCATCAA -3'

Posted On

2014-11-12