Mutagenetix > Incidental Mutation

Incidental Mutation 'V7580:Dnajc22'

69437

Institutional Source

Beutler Lab

Gene Symbol

Dnajc22

Ensembl Gene

ENSMUSG00000038009

Gene Name

DnaJ heat shock protein family (Hsp40) member C22

Synonyms

2810451A06Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

V7580 () of strain stinger

Quality Score

184

Status

Not validated

Chromosome

Chromosomal Location

98991102-99002618 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 98999363 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 183 (Y183N)

Ref Sequence

ENSEMBL: ENSMUSP00000055482 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061295]

AlphaFold

Q8CHS2

Predicted Effect

probably damaging
Transcript: ENSMUST00000061295
AA Change: Y183N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000055482
Gene: ENSMUSG00000038009
AA Change: Y183N

Domain	Start	End	E-Value	Type
Pfam:TM2	1	50	1e-10	PFAM
transmembrane domain	76	98	N/A	INTRINSIC
transmembrane domain	105	124	N/A	INTRINSIC
transmembrane domain	139	161	N/A	INTRINSIC
transmembrane domain	206	228	N/A	INTRINSIC
DnaJ	276	335	1.09e-19	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146173

Meta Mutation Damage Score

0.3928

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.8%
20x: 96.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	A	12: 118,849,914 (GRCm39)	M950L	probably benign	Het
Atp6v1h	A	G	1: 5,194,666 (GRCm39)	T282A	possibly damaging	Het
Casp8ap2	C	T	4: 32,639,944 (GRCm39)	H333Y	probably benign	Het
Cd36	ACTGTCTGT	ACTGT	5: 18,025,526 (GRCm39)		probably null	Het
Cfi	T	A	3: 129,648,641 (GRCm39)	I175K	possibly damaging	Het
D630003M21Rik	T	C	2: 158,042,931 (GRCm39)	T870A	probably benign	Het
Dnah12	T	A	14: 26,495,050 (GRCm39)	N1369K	possibly damaging	Het
Erv3	T	C	2: 131,697,846 (GRCm39)	H171R	possibly damaging	Het
Fam221b	T	C	4: 43,665,865 (GRCm39)	T249A	probably benign	Het
Gm10770	T	A	2: 150,021,404 (GRCm39)	K38*	probably null	Het
Gm4787	G	A	12: 81,424,341 (GRCm39)	Q606*	probably null	Het
Izumo4	A	T	10: 80,539,725 (GRCm39)	T155S	probably benign	Het
Kcnb2	A	G	1: 15,780,315 (GRCm39)	I396V	probably benign	Het
Klc1	A	T	12: 111,741,006 (GRCm39)	I161F	probably benign	Het
Lpar5	C	A	6: 125,058,690 (GRCm39)	A137E	possibly damaging	Het
Lrp4	C	T	2: 91,318,863 (GRCm39)	S900L	possibly damaging	Het
Lrrc37a	T	G	11: 103,346,338 (GRCm39)	N3176T	possibly damaging	Het
Med20	G	A	17: 47,929,757 (GRCm39)	V65M	probably damaging	Het
Mylk	G	T	16: 34,815,574 (GRCm39)		probably null	Het
Numbl	T	C	7: 26,979,027 (GRCm39)	S379P	probably benign	Het
Or10j7	G	T	1: 173,011,531 (GRCm39)	L157I	probably benign	Het
Or5an6	G	A	19: 12,371,914 (GRCm39)	V96I	probably benign	Het
Otop3	T	A	11: 115,235,664 (GRCm39)	L432Q	probably damaging	Het
Papln	C	T	12: 83,825,608 (GRCm39)	R608C	possibly damaging	Het
Pelp1	T	A	11: 70,288,976 (GRCm39)	T257S	probably damaging	Het
Pigx	T	C	16: 31,906,240 (GRCm39)	D129G	probably damaging	Het
Pik3cd	A	C	4: 149,741,776 (GRCm39)	L390R	probably damaging	Het
Plekhb1	T	C	7: 100,303,825 (GRCm39)	T112A	probably benign	Het
Ppwd1	A	G	13: 104,356,745 (GRCm39)	Y257H	probably damaging	Het
Recql4	T	C	15: 76,590,369 (GRCm39)	D705G	possibly damaging	Het
Ror1	A	G	4: 100,298,130 (GRCm39)	Q501R	probably damaging	Het
Slc30a4	T	A	2: 122,531,458 (GRCm39)	M136L	probably benign	Het
Spaca1	T	C	4: 34,039,311 (GRCm39)	E192G	probably damaging	Het
Spata31	C	A	13: 65,069,462 (GRCm39)	P537T	probably benign	Het
Sptbn2	C	T	19: 4,800,660 (GRCm39)	R2292C	probably damaging	Het
Tnrc6c	G	A	11: 117,614,152 (GRCm39)	R770H	probably damaging	Het
Trps1	T	C	15: 50,694,973 (GRCm39)	K150E	probably damaging	Het
Tspyl3	A	G	2: 153,066,980 (GRCm39)	V86A	probably benign	Het
Zfp292	C	T	4: 34,806,783 (GRCm39)	C2087Y	possibly damaging	Het
Zmynd8	G	A	2: 165,654,314 (GRCm39)	R724*	probably null	Het

Other mutations in Dnajc22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Dnajc22	APN	15	98,999,059 (GRCm39)	missense	possibly damaging	0.73
IGL00922:Dnajc22	APN	15	98,999,460 (GRCm39)	missense	possibly damaging	0.89
IGL02155:Dnajc22	APN	15	98,998,886 (GRCm39)	missense	probably damaging	1.00
IGL02726:Dnajc22	APN	15	98,998,881 (GRCm39)	missense	probably damaging	1.00
IGL03074:Dnajc22	APN	15	98,999,403 (GRCm39)	missense	probably damaging	1.00
F5770:Dnajc22	UTSW	15	98,999,363 (GRCm39)	missense	probably damaging	0.99
R1138:Dnajc22	UTSW	15	99,002,308 (GRCm39)	small deletion	probably benign
R1628:Dnajc22	UTSW	15	98,998,817 (GRCm39)	start codon destroyed	probably null	1.00
R2018:Dnajc22	UTSW	15	98,999,114 (GRCm39)	missense	probably benign	0.06
R2146:Dnajc22	UTSW	15	99,002,264 (GRCm39)	missense	probably benign	0.04
R4342:Dnajc22	UTSW	15	99,002,345 (GRCm39)	nonsense	probably null
R4950:Dnajc22	UTSW	15	98,999,615 (GRCm39)	missense	probably benign	0.29
R7123:Dnajc22	UTSW	15	98,999,085 (GRCm39)	missense	possibly damaging	0.89
R7173:Dnajc22	UTSW	15	98,999,187 (GRCm39)	missense	probably benign	0.06
R7640:Dnajc22	UTSW	15	98,998,995 (GRCm39)	missense	probably damaging	1.00
R7997:Dnajc22	UTSW	15	98,999,514 (GRCm39)	missense	probably damaging	1.00
R8338:Dnajc22	UTSW	15	98,999,022 (GRCm39)	missense	probably benign	0.00
R8745:Dnajc22	UTSW	15	98,999,345 (GRCm39)	missense	probably benign	0.01
V7581:Dnajc22	UTSW	15	98,999,363 (GRCm39)	missense	probably damaging	0.99
V7582:Dnajc22	UTSW	15	98,999,363 (GRCm39)	missense	probably damaging	0.99
V7583:Dnajc22	UTSW	15	98,999,363 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCTGTTGGTAACCAGACCTCAGAC -3'
(R):5'- TCATGCAAGCTACAAGCTCCTGC -3'

Sequencing Primer
(F):5'- CTTTAAGAATACCTTAGGAGCGGC -3'
(R):5'- TCTCTGAGGAGACTTACCCGAAG -3'

Posted On

2013-09-04