Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03265:Dnajc17'

415044

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dnajc17

Ensembl Gene

ENSMUSG00000034278

Gene Name

DnaJ heat shock protein family (Hsp40) member C17

Synonyms

D9Bwg1371e, 1700025B16Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03265

Quality Score

Status

Chromosome

Chromosomal Location

119002981-119039276 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 119016199 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 91 (E91D)

Ref Sequence

ENSEMBL: ENSMUSP00000041841 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038439]

AlphaFold

Q91WT4

Predicted Effect

probably benign
Transcript: ENSMUST00000038439
AA Change: E91D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000041841
Gene: ENSMUSG00000034278
AA Change: E91D

Domain	Start	End	E-Value	Type
DnaJ	10	68	3.66e-21	SMART
coiled coil region	112	151	N/A	INTRINSIC
low complexity region	172	181	N/A	INTRINSIC
Pfam:RRM_1	187	243	1.8e-6	PFAM
Pfam:RRM_5	194	246	1.7e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122061

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125731

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141009

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene trapped allele die before implantation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	C	A	11: 109,943,929 (GRCm39)	M1113I	probably benign	Het
Acvr1b	A	G	15: 101,100,959 (GRCm39)	R374G	probably damaging	Het
Akr1a1	A	G	4: 116,495,014 (GRCm39)	M286T	probably benign	Het
Anapc1	T	C	2: 128,469,117 (GRCm39)	S1575G	probably damaging	Het
Apba2	A	G	7: 64,345,071 (GRCm39)	D87G	probably damaging	Het
Arhgap21	A	G	2: 20,854,439 (GRCm39)	F1641S	probably benign	Het
Atad2b	T	A	12: 5,074,628 (GRCm39)	H1062Q	probably benign	Het
Bivm	A	G	1: 44,181,005 (GRCm39)	R396G	probably damaging	Het
Bltp1	T	A	3: 37,102,140 (GRCm39)	D4777E	probably benign	Het
Bmi1	T	A	2: 18,686,672 (GRCm39)	M17K	possibly damaging	Het
Bptf	T	C	11: 106,945,454 (GRCm39)	N2480S	probably benign	Het
Cacna2d3	T	C	14: 28,674,243 (GRCm39)	E944G	probably damaging	Het
Ces2a	C	T	8: 105,464,075 (GRCm39)	H236Y	possibly damaging	Het
Dnah7a	T	C	1: 53,568,007 (GRCm39)	D1863G	probably benign	Het
Dus2	C	A	8: 106,760,423 (GRCm39)		probably benign	Het
Epha6	T	C	16: 59,880,594 (GRCm39)		probably benign	Het
Erap1	A	T	13: 74,812,246 (GRCm39)	T354S	probably damaging	Het
Fbxo11	T	C	17: 88,300,259 (GRCm39)	H851R	probably damaging	Het
Gm20532	G	A	2: 26,522,696 (GRCm39)	C90Y	unknown	Het
Gpr21	T	C	2: 37,408,086 (GRCm39)	Y211H	probably damaging	Het
Hectd4	A	G	5: 121,398,002 (GRCm39)		probably benign	Het
Hephl1	G	A	9: 14,972,255 (GRCm39)	T895I	probably benign	Het
Hey1	T	C	3: 8,729,974 (GRCm39)	Y161C	probably benign	Het
Kdr	A	G	5: 76,121,433 (GRCm39)	Y526H	probably damaging	Het
Lpp	A	G	16: 24,580,737 (GRCm39)	Y151C	probably damaging	Het
Macc1	A	G	12: 119,410,711 (GRCm39)	N493S	probably benign	Het
Or2t45	T	C	11: 58,669,697 (GRCm39)	V248A	probably damaging	Het
Or52s6	C	A	7: 103,091,655 (GRCm39)	R225L	probably benign	Het
Or5m10b	T	A	2: 85,699,494 (GRCm39)	M186K	possibly damaging	Het
Or5t16	T	A	2: 86,819,424 (GRCm39)	Y32F	probably damaging	Het
Or6c1b	A	T	10: 129,272,794 (GRCm39)	T38S	possibly damaging	Het
Pcdhb21	A	G	18: 37,648,206 (GRCm39)	D445G	probably damaging	Het
Prkra	T	C	2: 76,470,614 (GRCm39)	N123D	probably benign	Het
Slc25a33	A	C	4: 149,846,893 (GRCm39)	L56R	probably damaging	Het
Usp36	A	G	11: 118,155,635 (GRCm39)	V714A	possibly damaging	Het
Vmn1r174	T	A	7: 23,453,898 (GRCm39)	L188*	probably null	Het
Vmn2r12	A	G	5: 109,239,936 (GRCm39)	V209A	probably benign	Het
Zfp809	A	G	9: 22,154,339 (GRCm39)	Y352C	probably benign	Het

Other mutations in Dnajc17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00793:Dnajc17	APN	2	119,011,441 (GRCm39)	missense	probably benign	0.00
IGL02958:Dnajc17	APN	2	119,016,243 (GRCm39)	missense	probably benign	0.03
R0142:Dnajc17	UTSW	2	119,010,415 (GRCm39)	missense	probably benign	0.21
R1772:Dnajc17	UTSW	2	119,014,164 (GRCm39)	nonsense	probably null
R2886:Dnajc17	UTSW	2	119,009,933 (GRCm39)	missense	probably benign	0.13
R4274:Dnajc17	UTSW	2	119,016,866 (GRCm39)	missense	probably benign	0.00
R4784:Dnajc17	UTSW	2	119,009,909 (GRCm39)	missense	probably benign	0.00
R5961:Dnajc17	UTSW	2	119,016,527 (GRCm39)	missense	possibly damaging	0.87
R6826:Dnajc17	UTSW	2	119,011,408 (GRCm39)	missense	probably damaging	1.00
R8858:Dnajc17	UTSW	2	119,011,445 (GRCm39)	missense	probably benign
R9173:Dnajc17	UTSW	2	119,009,894 (GRCm39)	missense	probably benign	0.29

Posted On

2016-08-02