Mutagenetix > Incidental Mutation

Incidental Mutation 'R9648:Dnajc2'

726855

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

R9648 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

21962279-21990183 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 21968478 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 403 (T403M)

Ref Sequence

ENSEMBL: ENSMUSP00000030771 (fasta)

Gene Model

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

AlphaFold

P54103

Predicted Effect

probably damaging
Transcript: ENSMUST00000030771
AA Change: T403M

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000030771
Gene: ENSMUSG00000029014
AA Change: T403M

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 damaging
Transcript: ENSMUST00000115193
AA Change: T403M

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110847
Gene: ENSMUSG00000029014
AA Change: T403M

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 damaging
Transcript: ENSMUST00000115195
AA Change: T329M

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110849
Gene: ENSMUSG00000029014
AA Change: T329M

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra2	G	A	8: 27,609,172 (GRCm39)	V798M	probably damaging	Het
Adprhl1	A	G	8: 13,273,245 (GRCm39)	L1171P	probably benign	Het
Atp2b2	C	T	6: 113,780,707 (GRCm39)		probably null	Het
Birc6	A	T	17: 74,938,696 (GRCm39)	N2701Y	probably damaging	Het
Bptf	A	T	11: 106,943,720 (GRCm39)	N2720K	probably damaging	Het
Ccpg1	T	C	9: 72,919,312 (GRCm39)	L309S	probably damaging	Het
Cep295	T	C	9: 15,234,903 (GRCm39)	N2126S	probably benign	Het
Cln5	A	G	14: 103,313,734 (GRCm39)	T329A	probably benign	Het
Cmas	T	A	6: 142,716,935 (GRCm39)	L276M	probably benign	Het
Cnbd1	A	C	4: 19,098,142 (GRCm39)		probably null	Het
Depdc1b	A	G	13: 108,460,444 (GRCm39)	N18S	probably damaging	Het
Dido1	C	A	2: 180,302,468 (GRCm39)	R1812I	probably damaging	Het
Dnm1	T	A	2: 32,230,455 (GRCm39)	I120F	probably damaging	Het
Egfl6	C	T	X: 165,319,235 (GRCm39)	V379I	probably benign	Het
Foxa2	T	A	2: 147,887,799 (GRCm39)	K12M	probably damaging	Het
Fut7	T	A	2: 25,315,336 (GRCm39)	V198E	probably damaging	Het
Gramd1b	A	T	9: 40,244,793 (GRCm39)	V205E	probably damaging	Het
Gtf2i	T	A	5: 134,284,770 (GRCm39)	N510Y	probably damaging	Het
H2-M1	T	C	17: 36,982,248 (GRCm39)	I118V	probably benign	Het
Icam1	T	C	9: 20,937,697 (GRCm39)	F245L	probably damaging	Het
Ifna16	C	T	4: 88,595,060 (GRCm39)	A12T	probably benign	Het
Il12rb2	T	C	6: 67,333,587 (GRCm39)	T231A	probably benign	Het
Klrb1a	T	C	6: 128,586,816 (GRCm39)		probably null	Het
Mc3r	T	C	2: 172,091,639 (GRCm39)	L287P	probably damaging	Het
Mme	A	T	3: 63,208,426 (GRCm39)	I63L	probably benign	Het
Msh3	A	G	13: 92,478,757 (GRCm39)	V404A	probably benign	Het
Myrf	T	A	19: 10,188,010 (GRCm39)	I896F	possibly damaging	Het
Nup205	T	A	6: 35,202,746 (GRCm39)	Y1318N	probably benign	Het
Or2t47	A	T	11: 58,442,313 (GRCm39)	Y251N	probably damaging	Het
Or7g17	T	A	9: 18,768,748 (GRCm39)	S267T	possibly damaging	Het
Osbp	T	A	19: 11,943,590 (GRCm39)	W96R	probably damaging	Het
Pcf11	A	G	7: 92,307,318 (GRCm39)	L950P	probably damaging	Het
Pcnt	T	C	10: 76,190,089 (GRCm39)	T2816A	probably benign	Het
Pde7a	A	G	3: 19,310,966 (GRCm39)	Y87H	probably damaging	Het
Pip4k2c	T	C	10: 127,041,569 (GRCm39)	H163R	probably damaging	Het
Pld1	T	A	3: 28,174,900 (GRCm39)	L846Q	probably damaging	Het
Plppr2	T	A	9: 21,852,379 (GRCm39)	S113T	probably benign	Het
Pms1	A	T	1: 53,314,284 (GRCm39)	L87Q	probably damaging	Het
Rasa1	A	G	13: 85,436,690 (GRCm39)	S113P	possibly damaging	Het
Rexo1	T	A	10: 80,385,540 (GRCm39)	H506L	probably damaging	Het
Rps12	T	C	10: 23,662,777 (GRCm39)	I6V	probably benign	Het
Rsph3a	T	C	17: 8,171,395 (GRCm39)	M170T	probably benign	Het
Rsrc2	A	G	5: 123,877,688 (GRCm39)	S156P	unknown	Het
Rtp3	T	C	9: 110,815,586 (GRCm39)	T260A	probably benign	Het
Sall2	A	G	14: 52,551,224 (GRCm39)	F657S	probably damaging	Het
Serpind1	T	A	16: 17,154,318 (GRCm39)	N48K	probably benign	Het
Slc38a11	T	A	2: 65,188,484 (GRCm39)	D95V	probably benign	Het
Slc5a4a	T	C	10: 76,002,608 (GRCm39)	C255R	probably damaging	Het
Slc6a12	C	A	6: 121,335,661 (GRCm39)	Y330*	probably null	Het
Slco1b2	T	C	6: 141,602,655 (GRCm39)	Y203H	possibly damaging	Het
Spdye4a	C	T	5: 143,210,848 (GRCm39)	R74K	probably benign	Het
Stab2	ACC	AC	10: 86,692,561 (GRCm39)		probably null	Het
Stat1	A	T	1: 52,165,695 (GRCm39)	D97V	probably damaging	Het
Stk11ip	A	G	1: 75,505,585 (GRCm39)	E418G	probably damaging	Het
Tcf20	T	C	15: 82,739,876 (GRCm39)	D525G	probably damaging	Het
Tcstv7b	C	T	13: 120,702,495 (GRCm39)	P97L	possibly damaging	Het
Tlr2	A	T	3: 83,745,840 (GRCm39)	L81Q	probably damaging	Het
Tmt1a3	C	T	15: 100,232,857 (GRCm39)	A16V	probably benign	Het
Trim50	T	A	5: 135,395,475 (GRCm39)	I277N	probably damaging	Het
Ttn	T	A	2: 76,619,806 (GRCm39)	Q15954L	probably benign	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 115,958,998 (GRCm39)		probably benign	Het
Wdr43	A	G	17: 71,960,494 (GRCm39)	K592R	probably benign	Het
Xirp2	A	G	2: 67,346,599 (GRCm39)	I2947V	probably benign	Het
Zan	A	C	5: 137,405,992 (GRCm39)	F3746V	unknown	Het
Zfp418	G	A	7: 7,185,171 (GRCm39)	S378N	probably benign	Het
Zfp518b	C	G	5: 38,830,240 (GRCm39)	Q588H	probably damaging	Het
Zfp959	G	A	17: 56,204,212 (GRCm39)	R83K	possibly damaging	Het
Znrf3	G	A	11: 5,231,915 (GRCm39)	R437C	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
R2437:Dnajc2	UTSW	5	21,965,389 (GRCm39)	missense	probably benign	0.06
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
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'- GGATCTTGGCTAAATAATCAGGC -3'
(R):5'- CTGACAGACATTTCATCCATGC -3'

Sequencing Primer
(F):5'- GTGGTAATGACAAACGCCTTC -3'
(R):5'- GACAGACATTTCATCCATGCCTTAC -3'

Posted On

2022-10-06