Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01107:Dnajc4'

53255

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dnajc4

Ensembl Gene

ENSMUSG00000024963

Gene Name

DnaJ heat shock protein family (Hsp40) member C4

Synonyms

Hspf2, 2010301J22Rik, Mcg18

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

IGL01107

Quality Score

Status

Chromosome

Chromosomal Location

6987911-6992503 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 6989501 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 153 (R153H)

Ref Sequence

ENSEMBL: ENSMUSP00000136062 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025914] [ENSMUST00000025915] [ENSMUST00000041686] [ENSMUST00000130048] [ENSMUST00000179118] [ENSMUST00000180765]

AlphaFold

Q9D844

Predicted Effect

probably benign
Transcript: ENSMUST00000025914

SMART Domains

Protein: ENSMUSP00000025914
Gene: ENSMUSG00000024962

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
PDGF	45	126	1.11e-44	SMART
low complexity region	182	207	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000025915
AA Change: R154H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000025915
Gene: ENSMUSG00000024963
AA Change: R154H

Domain	Start	End	E-Value	Type
low complexity region	4	15	N/A	INTRINSIC
DnaJ	36	94	9.97e-23	SMART
transmembrane domain	160	179	N/A	INTRINSIC
low complexity region	205	227	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000041686

SMART Domains

Protein: ENSMUSP00000041419
Gene: ENSMUSG00000037349

Domain	Start	End	E-Value	Type
low complexity region	7	16	N/A	INTRINSIC
low complexity region	195	206	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000130048

SMART Domains

Protein: ENSMUSP00000120860
Gene: ENSMUSG00000024962

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
PDGF	45	126	1.11e-44	SMART
Pfam:VEGF_C	134	188	1.3e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147924

Predicted Effect

probably benign
Transcript: ENSMUST00000179118
AA Change: R153H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000136062
Gene: ENSMUSG00000024963
AA Change: R153H

Domain	Start	End	E-Value	Type
low complexity region	4	15	N/A	INTRINSIC
DnaJ	36	94	9.97e-23	SMART
transmembrane domain	159	178	N/A	INTRINSIC
low complexity region	204	226	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180762

Predicted Effect

probably benign
Transcript: ENSMUST00000180765

SMART Domains

Protein: ENSMUSP00000137738
Gene: ENSMUSG00000037349

Domain	Start	End	E-Value	Type
low complexity region	7	16	N/A	INTRINSIC
low complexity region	195	206	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	A	T	2: 30,797,936	F215Y	probably damaging	Het
2700049A03Rik	T	C	12: 71,194,468		probably null	Het
Akip1	C	T	7: 109,711,838	T195M	probably damaging	Het
Arhgef16	T	C	4: 154,280,244	N631S	probably benign	Het
Brat1	C	T	5: 140,717,177	S544L	probably damaging	Het
Cfap65	C	T	1: 74,919,183		probably null	Het
D17Wsu92e	A	T	17: 27,786,069		probably null	Het
Defa22	T	A	8: 21,163,037		probably null	Het
Dusp11	A	G	6: 85,952,370		probably benign	Het
E2f4	T	A	8: 105,304,177		probably benign	Het
Ece1	T	A	4: 137,938,658	L271Q	probably damaging	Het
Fcgrt	T	C	7: 45,093,328	D343G	probably damaging	Het
Igsf10	T	C	3: 59,331,524	E412G	probably damaging	Het
Il4ra	G	T	7: 125,575,914	L431F	possibly damaging	Het
Krt86	T	A	15: 101,475,425	L200Q	probably damaging	Het
Lpcat1	T	A	13: 73,494,828	F126I	probably damaging	Het
Prag1	A	G	8: 36,099,931	T79A	probably benign	Het
Pramef12	A	T	4: 144,393,094	I301N	probably benign	Het
Psg29	G	T	7: 17,204,925	L41F	probably benign	Het
Rai14	C	T	15: 10,599,711		probably benign	Het
Reg3a	A	G	6: 78,383,245	D136G	probably benign	Het
Rif1	A	G	2: 52,111,303	T1590A	probably benign	Het
Rorb	A	T	19: 18,957,328	L300*	probably null	Het
Sin3b	T	C	8: 72,731,105	C150R	possibly damaging	Het
Smarcc1	C	A	9: 110,221,937	H942N	probably damaging	Het
Tas2r105	A	G	6: 131,687,111	V118A	probably benign	Het
Tmem131	T	C	1: 36,829,581	S388G	probably damaging	Het
Ttll9	C	A	2: 153,002,889		probably benign	Het
Ush1c	A	G	7: 46,209,901	L498P	probably damaging	Het
Vmn2r100	A	G	17: 19,521,356	Y110C	probably damaging	Het
Zbtb11	T	C	16: 56,006,007	Y800H	probably damaging	Het
Zdhhc20	T	A	14: 57,865,589	E101V	probably damaging	Het

Other mutations in Dnajc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02500:Dnajc4	APN	19	6988088	missense	possibly damaging	0.72
IGL02930:Dnajc4	APN	19	6989433	missense	possibly damaging	0.92
BB009:Dnajc4	UTSW	19	6988270	missense	probably damaging	1.00
BB019:Dnajc4	UTSW	19	6988270	missense	probably damaging	1.00
R2509:Dnajc4	UTSW	19	6990743	missense	probably damaging	1.00
R4157:Dnajc4	UTSW	19	6989840	missense	probably damaging	1.00
R4747:Dnajc4	UTSW	19	6989504	missense	probably damaging	0.99
R6060:Dnajc4	UTSW	19	6990725	nonsense	probably null
R7932:Dnajc4	UTSW	19	6988270	missense	probably damaging	1.00
R8752:Dnajc4	UTSW	19	6989433	missense	probably benign	0.08

Posted On

2013-06-21