Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02500:Dnajc4'

295991

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

Mcg18, 2010301J22Rik, Hspf2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

IGL02500

Quality Score

Status

Chromosome

Chromosomal Location

6965279-6969940 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6965456 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 215 (Q215R)

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

possibly damaging
Transcript: ENSMUST00000025915
AA Change: Q216R

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000025915
Gene: ENSMUSG00000024963
AA Change: Q216R

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

possibly damaging
Transcript: ENSMUST00000179118
AA Change: Q215R

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000136062
Gene: ENSMUSG00000024963
AA Change: Q215R

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	A	T	14: 118,856,338 (GRCm39)	I409N	possibly damaging	Het
Aoc3	T	A	11: 101,228,215 (GRCm39)	L674*	probably null	Het
Arhgef10	G	A	8: 15,011,238 (GRCm39)	E265K	probably damaging	Het
Ccn1	T	C	3: 145,354,455 (GRCm39)	K152R	probably damaging	Het
Cd53	A	G	3: 106,676,142 (GRCm39)	I75T	probably damaging	Het
Col26a1	A	T	5: 136,783,193 (GRCm39)	L235*	probably null	Het
Crem	G	T	18: 3,273,477 (GRCm39)	Q60K	probably damaging	Het
Cyp2j8	T	C	4: 96,358,887 (GRCm39)	D344G	probably damaging	Het
Dchs1	T	C	7: 105,405,013 (GRCm39)	T2510A	probably benign	Het
Espl1	A	G	15: 102,224,235 (GRCm39)	H1262R	probably benign	Het
Exoc2	G	T	13: 31,095,179 (GRCm39)	T239K	probably damaging	Het
Fzd6	A	T	15: 38,894,781 (GRCm39)	S316C	probably damaging	Het
Htra1	A	G	7: 130,586,704 (GRCm39)	K429R	probably benign	Het
Il1rapl2	C	T	X: 137,747,252 (GRCm39)	T647I	possibly damaging	Het
Kcnn3	T	A	3: 89,568,419 (GRCm39)		probably benign	Het
Kiz	G	A	2: 146,705,733 (GRCm39)	V98I	probably benign	Het
Klk1b24	A	T	7: 43,837,748 (GRCm39)		probably benign	Het
Lrrc30	T	A	17: 67,938,857 (GRCm39)	N241I	probably damaging	Het
Map2k4	A	G	11: 65,587,136 (GRCm39)	V288A	probably damaging	Het
Mefv	T	C	16: 3,531,441 (GRCm39)	H459R	probably damaging	Het
Mettl21a	G	T	1: 64,647,213 (GRCm39)	Q115K	probably benign	Het
Msra	A	G	14: 64,522,637 (GRCm39)		probably benign	Het
Myh8	G	A	11: 67,196,536 (GRCm39)	R1752H	probably benign	Het
Nrp1	T	C	8: 129,152,280 (GRCm39)	F163S	possibly damaging	Het
Ntng1	T	A	3: 110,042,646 (GRCm39)	Y60F	probably damaging	Het
Pax6	G	T	2: 105,523,115 (GRCm39)	R317L	probably benign	Het
Pcdh17	A	G	14: 84,770,909 (GRCm39)	E1129G	probably benign	Het
Phlpp2	C	T	8: 110,640,250 (GRCm39)	H472Y	probably benign	Het
Pip5k1c	C	A	10: 81,153,155 (GRCm39)		probably null	Het
Prkce	A	G	17: 86,476,342 (GRCm39)	N108D	probably benign	Het
Prkdc	T	G	16: 15,532,146 (GRCm39)		probably null	Het
Ptprm	T	C	17: 67,227,043 (GRCm39)	Y702C	probably damaging	Het
Rbbp8nl	T	C	2: 179,921,122 (GRCm39)	T421A	possibly damaging	Het
Retnlg	A	T	16: 48,693,323 (GRCm39)	L33F	probably benign	Het
Slc16a7	T	A	10: 125,066,802 (GRCm39)	Y279F	probably damaging	Het
Slc8a1	T	C	17: 81,696,142 (GRCm39)	Y964C	probably damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Sspo	C	A	6: 48,455,313 (GRCm39)	C3047*	probably null	Het
Tmprss11b	C	T	5: 86,815,182 (GRCm39)		probably null	Het
Txnrd1	T	G	10: 82,715,051 (GRCm39)	W98G	probably damaging	Het
Ulk1	A	T	5: 110,957,000 (GRCm39)	I66N	probably damaging	Het
Ush2a	A	G	1: 188,554,893 (GRCm39)	Y3557C	probably damaging	Het
Vmn2r57	T	A	7: 41,077,650 (GRCm39)	H172L	probably benign	Het
Zfp518a	G	A	19: 40,903,061 (GRCm39)	G997R	probably damaging	Het
Zfp592	T	A	7: 80,691,474 (GRCm39)	C1218S	probably benign	Het

Other mutations in Dnajc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01107:Dnajc4	APN	19	6,966,869 (GRCm39)	missense	probably benign
IGL02930:Dnajc4	APN	19	6,966,801 (GRCm39)	missense	possibly damaging	0.92
BB009:Dnajc4	UTSW	19	6,965,638 (GRCm39)	missense	probably damaging	1.00
BB019:Dnajc4	UTSW	19	6,965,638 (GRCm39)	missense	probably damaging	1.00
R2509:Dnajc4	UTSW	19	6,968,111 (GRCm39)	missense	probably damaging	1.00
R4157:Dnajc4	UTSW	19	6,967,208 (GRCm39)	missense	probably damaging	1.00
R4747:Dnajc4	UTSW	19	6,966,872 (GRCm39)	missense	probably damaging	0.99
R6060:Dnajc4	UTSW	19	6,968,093 (GRCm39)	nonsense	probably null
R7932:Dnajc4	UTSW	19	6,965,638 (GRCm39)	missense	probably damaging	1.00
R8752:Dnajc4	UTSW	19	6,966,801 (GRCm39)	missense	probably benign	0.08

Posted On

2015-04-16