Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00922:Dnajc22'

29057

Institutional Source

Australian Phenomics Network (link to record)

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: 0.070) question?

Stock #

IGL00922

Quality Score

Status

Chromosome

Chromosomal Location

98991102-99002618 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 98999460 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 215 (L215R)

Ref Sequence

ENSEMBL: ENSMUSP00000055482 (fasta)

Gene Model

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

AlphaFold

Q8CHS2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061295
AA Change: L215R

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000055482
Gene: ENSMUSG00000038009
AA Change: L215R

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210016L21Rik	T	C	5: 115,085,236 (GRCm39)		probably null	Het
Atr	T	A	9: 95,789,398 (GRCm39)	M1518K	probably damaging	Het
Baiap2l1	C	T	5: 144,255,777 (GRCm39)	G59D	probably damaging	Het
BC051019	C	A	7: 109,319,883 (GRCm39)	C60F	probably benign	Het
Brms1l	A	G	12: 55,892,111 (GRCm39)	Y135C	probably benign	Het
Cachd1	T	A	4: 100,824,163 (GRCm39)	S535T	probably benign	Het
Chkb	C	T	15: 89,306,491 (GRCm39)		probably null	Het
Coa7	G	T	4: 108,195,505 (GRCm39)	G145C	possibly damaging	Het
Cobl	T	A	11: 12,204,866 (GRCm39)	D605V	probably damaging	Het
Ddx54	T	A	5: 120,761,875 (GRCm39)		probably null	Het
Dnah6	A	T	6: 73,010,509 (GRCm39)		probably benign	Het
Dnaja2	A	T	8: 86,281,866 (GRCm39)	V4E	probably damaging	Het
Drc7	G	A	8: 95,804,606 (GRCm39)	V874I	probably benign	Het
Foxa2	A	C	2: 147,886,738 (GRCm39)	S26A	possibly damaging	Het
Gal	A	T	19: 3,461,575 (GRCm39)	V70E	probably benign	Het
Gjb4	T	C	4: 127,245,146 (GRCm39)	Y265C	probably benign	Het
Hc	A	G	2: 34,881,680 (GRCm39)	S1423P	probably damaging	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Kash5	T	C	7: 44,834,730 (GRCm39)	E532G	possibly damaging	Het
Map3k6	C	T	4: 132,970,355 (GRCm39)		probably benign	Het
Matn1	A	T	4: 130,680,285 (GRCm39)	Q454L	probably benign	Het
Mlxip	A	T	5: 123,578,128 (GRCm39)	N148I	probably damaging	Het
Mre11a	T	C	9: 14,710,884 (GRCm39)	F193L	probably damaging	Het
Myo1h	T	C	5: 114,498,546 (GRCm39)	Y881H	probably damaging	Het
Nphp4	C	T	4: 152,621,766 (GRCm39)		probably benign	Het
Or6c3b	T	G	10: 129,527,323 (GRCm39)	I196L	probably benign	Het
Ptpn13	T	A	5: 103,735,954 (GRCm39)	V2151D	probably damaging	Het
Rnf141	T	C	7: 110,432,941 (GRCm39)		probably benign	Het
Rpe65	A	C	3: 159,320,179 (GRCm39)	D277A	probably damaging	Het
Sec14l1	C	T	11: 117,044,055 (GRCm39)	T521M	possibly damaging	Het
Slc25a30	A	T	14: 76,007,038 (GRCm39)	Y153N	probably damaging	Het
Slc6a12	C	T	6: 121,337,414 (GRCm39)	A366V	probably damaging	Het
Trp53bp1	T	A	2: 121,038,963 (GRCm39)	T1367S	probably damaging	Het
Vmn2r71	T	G	7: 85,267,901 (GRCm39)	S118R	probably benign	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
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
V7580:Dnajc22	UTSW	15	98,999,363 (GRCm39)	missense	probably damaging	0.99
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

Posted On

2013-04-17