Mutagenetix > Incidental Mutation

Incidental Mutation 'R2918:Dnaja1'

255365

Institutional Source

Beutler Lab

Gene Symbol

Dnaja1

Ensembl Gene

ENSMUSG00000028410

Gene Name

DnaJ heat shock protein family (Hsp40) member A1

Synonyms

Hsj2, Nedd7

MMRRC Submission

040503-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.832) question?

Stock #

R2918 (G1)

Quality Score

214

Status

Not validated

Chromosome

Chromosomal Location

40722468-40734965 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 40724052 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 71 (A71V)

Ref Sequence

ENSEMBL: ENSMUSP00000129730 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030118] [ENSMUST00000125442] [ENSMUST00000137246] [ENSMUST00000164233] [ENSMUST00000149794]

AlphaFold

P63037

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030118
AA Change: A71V

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000030118
Gene: ENSMUSG00000028410
AA Change: A71V

Domain	Start	End	E-Value	Type
DnaJ	5	60	4.2e-30	SMART
low complexity region	66	82	N/A	INTRINSIC
low complexity region	93	104	N/A	INTRINSIC
Pfam:DnaJ_CXXCXGXG	134	200	5.7e-16	PFAM
Pfam:CTDII	257	340	1.5e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083518

Predicted Effect

probably benign
Transcript: ENSMUST00000125442
AA Change: A71V

PolyPhen 2 Score 0.289 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000116601
Gene: ENSMUSG00000028410
AA Change: A71V

Domain	Start	End	E-Value	Type
DnaJ	5	60	4.2e-30	SMART
low complexity region	66	82	N/A	INTRINSIC
low complexity region	93	104	N/A	INTRINSIC
Pfam:DnaJ_CXXCXGXG	134	200	1.8e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126020

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129204

Predicted Effect

probably benign
Transcript: ENSMUST00000137246
AA Change: A71V

PolyPhen 2 Score 0.289 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000118294
Gene: ENSMUSG00000028410
AA Change: A71V

Domain	Start	End	E-Value	Type
DnaJ	5	60	4.2e-30	SMART
low complexity region	66	82	N/A	INTRINSIC
low complexity region	93	104	N/A	INTRINSIC
Pfam:DnaJ_CXXCXGXG	134	200	3.2e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137476

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164233
AA Change: A71V

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000129730
Gene: ENSMUSG00000028410
AA Change: A71V

Domain	Start	End	E-Value	Type
DnaJ	5	60	4.2e-30	SMART
low complexity region	66	82	N/A	INTRINSIC
low complexity region	93	104	N/A	INTRINSIC
Pfam:DnaJ_C	107	329	5.1e-35	PFAM
Pfam:DnaJ_CXXCXGXG	134	200	6e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148976

Predicted Effect

possibly damaging
Transcript: ENSMUST00000149794
AA Change: A71V

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000121461
Gene: ENSMUSG00000028410
AA Change: A71V

Domain	Start	End	E-Value	Type
DnaJ	5	60	4.2e-30	SMART
low complexity region	66	82	N/A	INTRINSIC
low complexity region	93	104	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181475

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139406

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

MGI Phenotype

FUNCTION: The protein encoded by this gene is a member of the DnaJ family, whose members act as cochaperones of heat shock protein 70. Heat shock proteins facilitate protein folding, trafficking, prevention of aggregation, and proteolytic degradation. Members of this family are characterized by a highly conserved N-terminal J domain, a glycine/phenylalanine-rich region, four CxxCxGxG zinc finger repeats, and a C-terminal substrate-binding domain. The J domain mediates the interaction with heat shock protein 70 to recruit substrates and regulate ATP hydrolysis activity. Mice deficient for this gene display reduced levels of activation‐induced deaminase, an enzyme that deaminates deoxycytidine at the immunoglobulin genes during immune responses. In addition, mice lacking this gene exhibit severe defects in spermatogenesis. Several pseudogenes of this gene are found on other chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
PHENOTYPE: Male mice homozygous for a knock-out allele exhibit decreased postnatal growth and reduced fertility with severe defects in late stages of spermatogenesis that involve aberrant androgen receptor signaling in Sertoli cells and disruption of Sertoli-germ cell adherens junctions. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd5	A	G	2: 22,989,579 (GRCm39)	N401D	probably benign	Het
Agtpbp1	T	A	13: 59,644,829 (GRCm39)	D679V	possibly damaging	Het
Akap8	A	G	17: 32,524,622 (GRCm39)	V558A	probably benign	Het
Arrdc2	C	T	8: 71,290,171 (GRCm39)	R170Q	probably benign	Het
Atg10	A	T	13: 91,189,027 (GRCm39)	H94Q	probably damaging	Het
Atg4a-ps	G	A	3: 103,552,837 (GRCm39)	A168V	probably damaging	Het
Crb2	G	T	2: 37,673,395 (GRCm39)	R97L	probably benign	Het
Dysf	G	A	6: 84,163,491 (GRCm39)		probably null	Het
G6pd2	A	G	5: 61,966,869 (GRCm39)	R215G	probably damaging	Het
Hcn3	A	G	3: 89,054,920 (GRCm39)	S776P	probably benign	Het
Ift140	C	A	17: 25,254,805 (GRCm39)	N159K	possibly damaging	Het
Mafa	A	G	15: 75,619,147 (GRCm39)	S209P	probably benign	Het
Mug2	A	G	6: 122,051,683 (GRCm39)		probably null	Het
Myh14	T	C	7: 44,265,687 (GRCm39)	D1564G	possibly damaging	Het
Ncor2	T	A	5: 125,102,824 (GRCm39)	I1792F	probably damaging	Het
Nod2	T	C	8: 89,379,519 (GRCm39)	F7L	probably benign	Het
Odad2	G	A	18: 7,222,625 (GRCm39)	S548L	probably benign	Het
Or10d5	A	G	9: 39,861,660 (GRCm39)	S136P	probably benign	Het
Or1m1	T	A	9: 18,666,775 (GRCm39)	D52V	probably damaging	Het
Or2aa1	T	C	11: 59,480,265 (GRCm39)	T217A	probably benign	Het
Pak3	T	C	X: 142,547,972 (GRCm39)	V318A	probably damaging	Het
Pik3ap1	T	C	19: 41,290,970 (GRCm39)	T521A	probably benign	Het
Pkdcc	G	C	17: 83,523,378 (GRCm39)	A162P	probably benign	Het
Rassf4	A	G	6: 116,618,701 (GRCm39)	V194A	probably damaging	Het
Scp2d1	T	A	2: 144,665,868 (GRCm39)	I69N	probably damaging	Het
Spg11	A	G	2: 121,905,782 (GRCm39)	S1288P	probably damaging	Het
Sptb	A	G	12: 76,645,532 (GRCm39)	S2019P	probably damaging	Het
Stxbp5l	A	T	16: 37,021,004 (GRCm39)	L630*	probably null	Het
Trim41	TTCCTCCTCCTCCTCCTCCTCCTCCTCC	TTCCTCCTCCTCCTCCTCCTCCTCC	11: 48,707,084 (GRCm39)		probably benign	Het
Trpc1	C	T	9: 95,605,182 (GRCm39)	R159H	probably damaging	Het
Zbtb14	C	T	17: 69,695,214 (GRCm39)	P304L	probably damaging	Het

Other mutations in Dnaja1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01120:Dnaja1	APN	4	40,730,248 (GRCm39)	missense	probably damaging	1.00
R0520:Dnaja1	UTSW	4	40,728,072 (GRCm39)	missense	probably benign
R2186:Dnaja1	UTSW	4	40,732,853 (GRCm39)	missense	probably benign	0.04
R2917:Dnaja1	UTSW	4	40,724,052 (GRCm39)	missense	possibly damaging	0.67
R5464:Dnaja1	UTSW	4	40,724,133 (GRCm39)	missense	probably benign	0.00
R6083:Dnaja1	UTSW	4	40,731,713 (GRCm39)	missense	probably benign	0.10
R7424:Dnaja1	UTSW	4	40,730,244 (GRCm39)	missense	probably benign	0.20
R7664:Dnaja1	UTSW	4	40,724,090 (GRCm39)	missense	probably benign	0.03
R9263:Dnaja1	UTSW	4	40,724,133 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTGGCCTTGAAGTACCACCC -3'
(R):5'- TCACGGACAGAGTGTAACATC -3'

Sequencing Primer
(F):5'- GGCCTTGAAGTACCACCCTGATAAG -3'
(R):5'- GAGTGTAACATCATACCAACGTG -3'

Posted On

2014-12-29