Mutagenetix > Incidental Mutation

Incidental Mutation 'R9263:Dnaja1'

702372

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.832) question?

Stock #

R9263 (G1)

Quality Score

224.009

Status

Validated

Chromosome

Chromosomal Location

40722468-40734965 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 40724133 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 98 (M98K)

Ref Sequence

ENSEMBL: ENSMUSP00000118294 (fasta)

Gene Model

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

AlphaFold

P63037

Predicted Effect

probably benign
Transcript: ENSMUST00000030118
AA Change: M98K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000030118
Gene: ENSMUSG00000028410
AA Change: M98K

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: M98K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000116601
Gene: ENSMUSG00000028410
AA Change: M98K

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: M98K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000118294
Gene: ENSMUSG00000028410
AA Change: M98K

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

noncoding transcript
Transcript: ENSMUST00000148976

Predicted Effect

probably benign
Transcript: ENSMUST00000149794
AA Change: M98K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000121461
Gene: ENSMUSG00000028410
AA Change: M98K

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

probably benign
Transcript: ENSMUST00000164233
AA Change: M98K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000129730
Gene: ENSMUSG00000028410
AA Change: M98K

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: ENSMUST00000139406

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181475

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (45/45)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c14	T	C	13: 4,113,620 (GRCm39)	S51P	probably damaging	Het
Arhgef38	T	G	3: 132,866,529 (GRCm39)	K203Q		Het
Cacna1d	G	A	14: 29,796,925 (GRCm39)	R1517W	probably damaging	Het
Ccdc80	T	A	16: 44,915,949 (GRCm39)	M235K	probably damaging	Het
Cdc42bpg	T	C	19: 6,372,149 (GRCm39)	S1414P	probably damaging	Het
Dab2ip	A	G	2: 35,602,891 (GRCm39)	D395G	probably damaging	Het
Dmxl2	T	C	9: 54,358,945 (GRCm39)	E255G	probably benign	Het
Dnajb7	G	A	15: 81,292,266 (GRCm39)	R24C	probably benign	Het
Dscc1	C	A	15: 54,947,505 (GRCm39)	W225L	probably damaging	Het
Dsg2	T	A	18: 20,727,223 (GRCm39)	V590D	probably benign	Het
Epcam	A	G	17: 87,947,960 (GRCm39)		probably benign	Het
Fbn2	T	C	18: 58,257,344 (GRCm39)	Y341C	probably damaging	Het
Fry	T	G	5: 150,322,728 (GRCm39)	L1040R	probably damaging	Het
Gm9639	C	T	10: 77,630,828 (GRCm39)	C28Y	unknown	Het
Hsd17b7	A	G	1: 169,794,833 (GRCm39)	S69P	probably damaging	Het
Igsf1	A	G	X: 48,884,191 (GRCm39)	M2T	possibly damaging	Het
Katnip	T	A	7: 125,469,867 (GRCm39)	D1445E	probably damaging	Het
Kmt2d	TGCTGCTGCTGCTGCTGCTGG	TG	15: 98,747,499 (GRCm39)		probably null	Het
Lrp5	T	C	19: 3,654,190 (GRCm39)	Y1079C	probably damaging	Het
Lrp6	T	C	6: 134,457,467 (GRCm39)	D779G	probably damaging	Het
Nbea	AC	A	3: 55,998,393 (GRCm39)		probably null	Het
Pacsin1	A	G	17: 27,923,924 (GRCm39)	D106G	probably damaging	Het
Pcm1	T	A	8: 41,732,790 (GRCm39)	D682E	probably benign	Het
Pex6	A	G	17: 47,023,231 (GRCm39)	D269G	probably benign	Het
Rcor1	T	A	12: 111,078,327 (GRCm39)	V474E		Het
Rdh16	A	G	10: 127,649,306 (GRCm39)	D254G	probably benign	Het
Rp1	A	T	1: 4,418,675 (GRCm39)	D812E	probably benign	Het
Rp1	A	G	1: 4,419,160 (GRCm39)	S651P	probably benign	Het
Sec16b	G	A	1: 157,359,748 (GRCm39)		probably benign	Het
Sephs2	C	T	7: 126,872,122 (GRCm39)	G324S	probably damaging	Het
Sirpb1a	T	C	3: 15,481,992 (GRCm39)	D112G	probably damaging	Het
Slc25a47	C	G	12: 108,820,215 (GRCm39)	T73S	probably benign	Het
Slco4c1	A	T	1: 96,799,509 (GRCm39)	L109H	probably damaging	Het
Smc2	A	G	4: 52,470,848 (GRCm39)	E845G	possibly damaging	Het
Sstr3	G	T	15: 78,423,792 (GRCm39)	N318K	probably damaging	Het
Suz12	A	G	11: 79,904,087 (GRCm39)		probably benign	Het
Sycp2	A	G	2: 178,035,931 (GRCm39)	I252T	probably damaging	Het
Syne3	T	C	12: 104,934,415 (GRCm39)	Y118C	probably damaging	Het
Tbx18	C	A	9: 87,611,521 (GRCm39)	A170S	probably damaging	Het
Trak2	T	C	1: 58,985,481 (GRCm39)	N6D	probably benign	Het
Ttn	G	A	2: 76,720,868 (GRCm39)	T6852I	unknown	Het
Tufm	A	G	7: 126,088,100 (GRCm39)	E201G	probably damaging	Het
Vwa3b	C	A	1: 37,099,493 (GRCm39)	P236Q	probably benign	Het
Xirp2	A	G	2: 67,345,289 (GRCm39)	Y2510C	possibly 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
R2918: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

Predicted Primers

PCR Primer
(F):5'- TGGGATGTCCTTTTCTGAAACAG -3'
(R):5'- CCACTGTTTGGGAATCTATGGG -3'

Sequencing Primer
(F):5'- GTCCTTTTCTGAAACAGTTTAAACAG -3'
(R):5'- AATCTATGGGGTTAGTTATACCTGC -3'

Posted On

2022-03-25