Mutagenetix > Incidental Mutation

Incidental Mutation 'R8879:Dnaja4'

700920

Institutional Source

Beutler Lab

Gene Symbol

Dnaja4

Ensembl Gene

ENSMUSG00000032285

Gene Name

DnaJ heat shock protein family (Hsp40) member A4

Synonyms

1110021L12Rik, Hsj4, Dj4

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8879 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

54698873-54716315 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 54714704 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123077 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051822] [ENSMUST00000070070] [ENSMUST00000118771] [ENSMUST00000120452] [ENSMUST00000121204] [ENSMUST00000130368]

AlphaFold

Q9JMC3

Predicted Effect

probably benign
Transcript: ENSMUST00000051822

SMART Domains

Protein: ENSMUSP00000056359
Gene: ENSMUSG00000061559

Domain	Start	End	E-Value	Type
WD40	2	48	1.27e-1	SMART
WD40	53	92	7.62e-5	SMART
WD40	95	134	3.99e-1	SMART
WD40	137	176	7.73e-6	SMART
WD40	179	218	3.21e-12	SMART
WD40	221	260	8.81e-10	SMART
WD40	263	302	1.49e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000070070

SMART Domains

Protein: ENSMUSP00000070413
Gene: ENSMUSG00000032285

Domain	Start	End	E-Value	Type
DnaJ	5	60	1.41e-31	SMART
low complexity region	75	85	N/A	INTRINSIC
low complexity region	94	105	N/A	INTRINSIC
Pfam:DnaJ_CXXCXGXG	135	201	2.1e-15	PFAM
Pfam:CTDII	258	340	4.1e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118771

SMART Domains

Protein: ENSMUSP00000112811
Gene: ENSMUSG00000061559

Domain	Start	End	E-Value	Type
WD40	2	48	1.27e-1	SMART
WD40	53	92	7.62e-5	SMART
WD40	95	134	3.99e-1	SMART
WD40	137	176	7.73e-6	SMART
WD40	179	218	3.21e-12	SMART
WD40	221	260	8.81e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000120452

SMART Domains

Protein: ENSMUSP00000112520
Gene: ENSMUSG00000032285

Domain	Start	End	E-Value	Type
DnaJ	5	60	1.41e-31	SMART
low complexity region	75	85	N/A	INTRINSIC
low complexity region	94	105	N/A	INTRINSIC
Pfam:DnaJ_C	108	330	9.7e-35	PFAM
Pfam:DnaJ_CXXCXGXG	135	201	1.5e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121204

SMART Domains

Protein: ENSMUSP00000113560
Gene: ENSMUSG00000061559

Domain	Start	End	E-Value	Type
WD40	2	48	1.27e-1	SMART
WD40	53	92	7.62e-5	SMART
WD40	95	134	3.99e-1	SMART
WD40	137	176	7.73e-6	SMART
WD40	179	218	3.21e-12	SMART
WD40	221	260	8.81e-10	SMART
WD40	263	302	1.49e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000130368

SMART Domains

Protein: ENSMUSP00000123077
Gene: ENSMUSG00000061559

Domain	Start	End	E-Value	Type
WD40	5	36	5.3e1	SMART
WD40	39	78	7.73e-6	SMART
WD40	81	120	3.21e-12	SMART
WD40	123	162	8.81e-10	SMART
WD40	165	204	1.49e-7	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (69/69)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130401M01Rik	C	T	15: 58,022,509	V326M	probably damaging	Het
Adap2	T	A	11: 80,156,959	H80Q	probably benign	Het
Ang4	T	C	14: 51,764,486	T2A	probably benign	Het
Arf2	T	C	11: 103,979,759		probably null	Het
B3gnt4	A	G	5: 123,511,148	D192G	probably damaging	Het
BC034090	T	C	1: 155,226,357	I54V	probably benign	Het
Catsper3	A	G	13: 55,804,895	T202A	probably benign	Het
Cenpe	T	A	3: 135,260,101	D2113E	probably damaging	Het
Clasp2	T	C	9: 113,773,705	V191A	probably benign	Het
Col5a1	G	T	2: 28,014,158	A1356S	unknown	Het
Cuzd1	A	G	7: 131,308,848	S573P	probably damaging	Het
Cyp1a2	C	A	9: 57,681,885	M215I	possibly damaging	Het
Dcaf17	T	A	2: 71,063,402	I122K	possibly damaging	Het
Dhcr24	A	G	4: 106,573,809	I232V	probably benign	Het
Dnah10	A	G	5: 124,818,117	E3570G	probably damaging	Het
Ehd1	A	G	19: 6,298,324	D444G	probably damaging	Het
Ehmt1	T	A	2: 24,836,476	M766L	possibly damaging	Het
Eno4	A	G	19: 58,970,722	I613M	probably benign	Het
Exoc3l	A	T	8: 105,290,549	M602K		Het
Fam107a	C	T	14: 8,301,352		probably null	Het
Frem3	A	T	8: 80,613,148	D690V	probably damaging	Het
Gm11639	T	C	11: 104,690,955	I41T	probably benign	Het
Gm19410	A	T	8: 35,771,868	D97V	probably damaging	Het
Grik5	T	A	7: 25,023,064	D540V	possibly damaging	Het
Hint1	T	A	11: 54,869,943	D69E	probably benign	Het
Krt13	T	C	11: 100,119,385	T257A	probably benign	Het
Lpin2	T	C	17: 71,242,754	L676P	probably damaging	Het
Lrguk	A	G	6: 34,029,683	E76G	probably benign	Het
Lrrc8a	A	G	2: 30,256,298	M375V	probably benign	Het
Lrrtm3	T	C	10: 64,089,238	Q50R	possibly damaging	Het
Mmrn1	T	A	6: 60,976,529	L598Q	probably damaging	Het
Mrs2	A	G	13: 25,001,784	I135T	probably damaging	Het
Neb	T	C	2: 52,235,580	D475G		Het
Notch2	A	G	3: 98,135,599	S1427G	possibly damaging	Het
Olfr118	C	A	17: 37,672,411	Y129*	probably null	Het
Olfr682-ps1	A	G	7: 105,126,686	V195A	probably benign	Het
Olfr694	A	T	7: 106,689,089	I214N	probably damaging	Het
Olfr816	A	G	10: 129,911,862	C139R	probably damaging	Het
Olfr952	A	C	9: 39,426,219	V284G	possibly damaging	Het
Opcml	T	C	9: 28,902,151	F246S	probably damaging	Het
Pdzd2	C	A	15: 12,402,319	V729F	probably damaging	Het
Pias2	C	T	18: 77,146,768	Q565*	probably null	Het
Pnp	T	A	14: 50,950,720		probably null	Het
Ptpn18	T	C	1: 34,463,130	S76P	probably benign	Het
Qtrt2	A	T	16: 43,863,197	L304Q	probably damaging	Het
Rad51ap2	A	T	12: 11,457,400	E441V	possibly damaging	Het
Ranbp2	T	A	10: 58,477,889	V1477E	probably benign	Het
Repin1	C	T	6: 48,597,433	T432I	possibly damaging	Het
Rest	G	A	5: 77,282,511	G926R	probably benign	Het
Rnft1	T	A	11: 86,486,690	F143L	possibly damaging	Het
Sema3e	A	T	5: 14,232,094	I415L	probably benign	Het
Slc10a1	T	A	12: 80,967,595	N117I	probably damaging	Het
Slc25a23	G	A	17: 57,059,709		probably benign	Het
Slc2a2	T	C	3: 28,713,802	S160P	possibly damaging	Het
Srrd	A	G	5: 112,338,456	V178A	possibly damaging	Het
Tmigd3	G	T	3: 105,921,961	G198C	probably benign	Het
Trbv29	G	A	6: 41,271,405	M1I	probably null	Het
Tril	A	G	6: 53,819,584	S218P	probably damaging	Het
Trip11	T	C	12: 101,862,598	K1749R	probably benign	Het
Ttc25	G	T	11: 100,566,926	E452*	probably null	Het
Ttn	A	G	2: 76,830,651	V12011A		Het
Ubr4	T	G	4: 139,410,518	F1093V	probably benign	Het
Urb2	C	A	8: 124,028,403	A283E	probably benign	Het
Usp43	T	A	11: 67,898,881		probably benign	Het
Vmn1r28	A	T	6: 58,265,684	I171F	probably benign	Het
Vps33a	G	A	5: 123,533,899	R469W	probably damaging	Het
Zfp202	G	A	9: 40,211,757	R605Q	probably damaging	Het
Zpbp2	A	T	11: 98,554,620	H158L	probably benign	Het

Other mutations in Dnaja4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02977:Dnaja4	APN	9	54714510	missense	possibly damaging	0.93
PIT4305001:Dnaja4	UTSW	9	54710634	missense	probably benign	0.01
R2139:Dnaja4	UTSW	9	54709222	missense	probably benign	0.01
R4837:Dnaja4	UTSW	9	54710644	missense	probably benign	0.00
R5087:Dnaja4	UTSW	9	54699739	missense	probably damaging	0.99
R5862:Dnaja4	UTSW	9	54699341	unclassified	probably benign
R6722:Dnaja4	UTSW	9	54699754	missense	probably damaging	0.99
R6985:Dnaja4	UTSW	9	54708395	missense	probably benign	0.06
R7165:Dnaja4	UTSW	9	54709232	missense	probably damaging	1.00
R7228:Dnaja4	UTSW	9	54714285	missense	possibly damaging	0.88
R7762:Dnaja4	UTSW	9	54709210	missense	probably benign	0.03
R9069:Dnaja4	UTSW	9	54714354	missense	probably benign	0.01
R9609:Dnaja4	UTSW	9	54709360	missense	probably null	1.00
X0057:Dnaja4	UTSW	9	54699804	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCTCAGGAGAAGCTTCCTCAG -3'
(R):5'- ATTCCATATGCAGACTAGAGGGG -3'

Sequencing Primer
(F):5'- TTCCCCCTCGGCAGAAG -3'
(R):5'- CATATGCAGACTAGAGGGGATTGAAC -3'

Posted On

2022-03-16