Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02958:Dnajc17'

365222

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 #

IGL02958

Quality Score

Status

Chromosome

Chromosomal Location

119002981-119039276 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119016243 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 77 (K77E)

Ref Sequence

ENSEMBL: ENSMUSP00000041841 (fasta)

Gene Model

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

AlphaFold

Q91WT4

Predicted Effect

probably benign
Transcript: ENSMUST00000038439
AA Change: K77E

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000041841
Gene: ENSMUSG00000034278
AA Change: K77E

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	G	T	17: 45,829,098 (GRCm39)	V755L	probably benign	Het
Abhd15	T	C	11: 77,406,791 (GRCm39)	V256A	possibly damaging	Het
Agtr1b	A	T	3: 20,370,258 (GRCm39)	V116E	possibly damaging	Het
Ahi1	A	T	10: 20,839,698 (GRCm39)	D203V	probably damaging	Het
Aplp2	G	T	9: 31,075,972 (GRCm39)		probably benign	Het
Arid4a	T	C	12: 71,144,337 (GRCm39)	S1249P	probably benign	Het
Asz1	T	A	6: 18,073,813 (GRCm39)	K298M	possibly damaging	Het
C4bp	A	G	1: 130,564,532 (GRCm39)	I384T	probably damaging	Het
Cacna1e	C	A	1: 154,341,487 (GRCm39)	A1236S	probably damaging	Het
Cdh13	T	C	8: 120,039,460 (GRCm39)	I634T	possibly damaging	Het
Cemip	A	T	7: 83,624,263 (GRCm39)	F524L	probably damaging	Het
Dnah7c	G	A	1: 46,696,271 (GRCm39)	R2051H	probably damaging	Het
Efhc2	C	T	X: 17,027,485 (GRCm39)		probably benign	Het
Ergic2	A	T	6: 148,083,441 (GRCm39)	*50K	probably null	Het
Fam83g	C	T	11: 61,598,548 (GRCm39)	P812S	probably damaging	Het
Flg2	C	T	3: 93,110,920 (GRCm39)	R983W	unknown	Het
Itih3	T	C	14: 30,635,139 (GRCm39)	T73A	probably benign	Het
Kcnj1	A	G	9: 32,307,851 (GRCm39)	S72G	probably damaging	Het
Kcnn4	T	C	7: 24,074,170 (GRCm39)	V78A	probably benign	Het
Lrp1b	T	A	2: 41,192,928 (GRCm39)	D1353V	probably damaging	Het
Lrrc2	T	A	9: 110,791,741 (GRCm39)		probably null	Het
Mplkipl1	G	T	19: 61,164,118 (GRCm39)	Q106K	possibly damaging	Het
Ndufs8	T	C	19: 3,961,232 (GRCm39)	E45G	probably benign	Het
Nell1	G	A	7: 49,870,085 (GRCm39)		probably null	Het
Nxt1	A	G	2: 148,517,692 (GRCm39)		probably benign	Het
Or2y17	A	G	11: 49,232,127 (GRCm39)	Y256C	probably benign	Het
Or5al5	T	A	2: 85,961,351 (GRCm39)	I219F	probably benign	Het
Pdzd8	A	T	19: 59,288,804 (GRCm39)	C865*	probably null	Het
Pop1	G	T	15: 34,530,509 (GRCm39)	C969F	probably damaging	Het
Rc3h2	A	C	2: 37,304,712 (GRCm39)	I16S	probably damaging	Het
Shank1	T	C	7: 44,003,897 (GRCm39)	V1863A	possibly damaging	Het
Slc15a4	A	T	5: 127,681,729 (GRCm39)	L296Q	possibly damaging	Het
Spmip1	G	A	6: 29,471,625 (GRCm39)	G34R	probably damaging	Het
Ssr4	T	C	X: 72,830,856 (GRCm39)		probably benign	Het
Supt20	T	A	3: 54,621,144 (GRCm39)		probably benign	Het
Ttc8	A	T	12: 98,930,803 (GRCm39)	K282N	probably benign	Het
Usp40	A	T	1: 87,906,207 (GRCm39)	V676E	probably damaging	Het
Vmn1r43	T	C	6: 89,847,031 (GRCm39)	I152V	probably benign	Het
Vmn2r61	A	T	7: 41,949,361 (GRCm39)	I594F	probably benign	Het
Vps53	A	C	11: 76,008,537 (GRCm39)	I261S	probably damaging	Het
Wdr19	T	A	5: 65,370,150 (GRCm39)		probably null	Het
Zc3hav1	T	A	6: 38,309,919 (GRCm39)	D301V	probably damaging	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
IGL03265:Dnajc17	APN	2	119,016,199 (GRCm39)	missense	probably benign	0.00
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

2015-12-18