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

Is this an essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

V7580 () of strain stinger

Quality Score

184

Status

Not validated

Chromosome

Chromosomal Location

99093170-99104737 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 99101482 bp (GRCm38)

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: 118,886,179	M950L	probably benign	Het
Atp6v1h	A	G	1: 5,124,443	T282A	possibly damaging	Het
Casp8ap2	C	T	4: 32,639,944	H333Y	probably benign	Het
Cd36	ACTGTCTGT	ACTGT	5: 17,820,528		probably null	Het
Cfi	T	A	3: 129,854,992	I175K	possibly damaging	Het
D630003M21Rik	T	C	2: 158,201,011	T870A	probably benign	Het
Dnah12	T	A	14: 26,773,093	N1369K	possibly damaging	Het
Erv3	T	C	2: 131,855,926	H171R	possibly damaging	Het
Fam221b	T	C	4: 43,665,865	T249A	probably benign	Het
Gm10770	T	A	2: 150,179,484	K38*	probably null	Het
Gm4787	G	A	12: 81,377,567	Q606*	probably null	Het
Izumo4	A	T	10: 80,703,891	T155S	probably benign	Het
Kcnb2	A	G	1: 15,710,091	I396V	probably benign	Het
Klc1	A	T	12: 111,774,572	I161F	probably benign	Het
Lpar5	C	A	6: 125,081,727	A137E	possibly damaging	Het
Lrp4	C	T	2: 91,488,518	S900L	possibly damaging	Het
Lrrc37a	T	G	11: 103,455,512	N3176T	possibly damaging	Het
Med20	G	A	17: 47,618,832	V65M	probably damaging	Het
Mylk	G	T	16: 34,995,204		probably null	Het
Numbl	T	C	7: 27,279,602	S379P	probably benign	Het
Olfr1406	G	T	1: 173,183,964	L157I	probably benign	Het
Olfr1440	G	A	19: 12,394,550	V96I	probably benign	Het
Otop3	T	A	11: 115,344,838	L432Q	probably damaging	Het
Papln	C	T	12: 83,778,834	R608C	possibly damaging	Het
Pelp1	T	A	11: 70,398,150	T257S	probably damaging	Het
Pigx	T	C	16: 32,087,422	D129G	probably damaging	Het
Pik3cd	A	C	4: 149,657,319	L390R	probably damaging	Het
Plekhb1	T	C	7: 100,654,618	T112A	probably benign	Het
Ppwd1	A	G	13: 104,220,237	Y257H	probably damaging	Het
Recql4	T	C	15: 76,706,169	D705G	possibly damaging	Het
Ror1	A	G	4: 100,440,933	Q501R	probably damaging	Het
Slc30a4	T	A	2: 122,689,538	M136L	probably benign	Het
Spaca1	T	C	4: 34,039,311	E192G	probably damaging	Het
Spata31	C	A	13: 64,921,648	P537T	probably benign	Het
Sptbn2	C	T	19: 4,750,632	R2292C	probably damaging	Het
Tnrc6c	G	A	11: 117,723,326	R770H	probably damaging	Het
Trps1	T	C	15: 50,831,577	K150E	probably damaging	Het
Tspyl3	A	G	2: 153,225,060	V86A	probably benign	Het
Zfp292	C	T	4: 34,806,783	C2087Y	possibly damaging	Het
Zmynd8	G	A	2: 165,812,394	R724*	probably null	Het

Other mutations in Dnajc22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Dnajc22	APN	15	99101178	missense	possibly damaging	0.73
IGL00922:Dnajc22	APN	15	99101579	missense	possibly damaging	0.89
IGL02155:Dnajc22	APN	15	99101005	missense	probably damaging	1.00
IGL02726:Dnajc22	APN	15	99101000	missense	probably damaging	1.00
IGL03074:Dnajc22	APN	15	99101522	missense	probably damaging	1.00
F5770:Dnajc22	UTSW	15	99101482	missense	probably damaging	0.99
R1138:Dnajc22	UTSW	15	99104427	small deletion	probably benign
R1628:Dnajc22	UTSW	15	99100936	start codon destroyed	probably null	1.00
R2018:Dnajc22	UTSW	15	99101233	missense	probably benign	0.06
R2146:Dnajc22	UTSW	15	99104383	missense	probably benign	0.04
R4342:Dnajc22	UTSW	15	99104464	nonsense	probably null
R4950:Dnajc22	UTSW	15	99101734	missense	probably benign	0.29
R7123:Dnajc22	UTSW	15	99101204	missense	possibly damaging	0.89
R7173:Dnajc22	UTSW	15	99101306	missense	probably benign	0.06
R7640:Dnajc22	UTSW	15	99101114	missense	probably damaging	1.00
R7997:Dnajc22	UTSW	15	99101633	missense	probably damaging	1.00
R8338:Dnajc22	UTSW	15	99101141	missense	probably benign	0.00
R8745:Dnajc22	UTSW	15	99101464	missense	probably benign	0.01
V7581:Dnajc22	UTSW	15	99101482	missense	probably damaging	0.99
V7582:Dnajc22	UTSW	15	99101482	missense	probably damaging	0.99
V7583:Dnajc22	UTSW	15	99101482	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