Mutagenetix > Incidental Mutation

Incidental Mutation 'R2191:Dnajb9'

238128

Institutional Source

Beutler Lab

Gene Symbol

Dnajb9

Ensembl Gene

ENSMUSG00000014905

Gene Name

DnaJ heat shock protein family (Hsp40) member B9

Synonyms

mDj7, Mdg1, microvascular endothelial differentiation gene, ERdj4

MMRRC Submission

040193-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.211) question?

Stock #

R2191 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44205559-44210326 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44207073 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 184 (T184A)

Ref Sequence

ENSEMBL: ENSMUSP00000015049 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015049] [ENSMUST00000220421]

AlphaFold

Q9QYI6

Predicted Effect

probably benign
Transcript: ENSMUST00000015049
AA Change: T184A

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

SMART Domains

Protein: ENSMUSP00000015049
Gene: ENSMUSG00000014905
AA Change: T184A

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
DnaJ	25	82	2.55e-29	SMART
low complexity region	111	125	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177238

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219471

Predicted Effect

probably benign
Transcript: ENSMUST00000220421

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the J protein family. J proteins function in many cellular processes by regulating the ATPase activity of 70 kDa heat shock proteins. This gene is a member of the type 2 subgroup of DnaJ proteins. The encoded protein is localized to the endoplasmic reticulum. This protein is induced by endoplasmic reticulum stress and plays a role in protecting stressed cells from apoptosis. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for a hypomorphic allele show perinatal death, reduced birth size and liver glycogen levels, and hypoglycemia. Surviving adults show elevated ER stress in MEFs, lung, kidney, salivary gland and in pancreas, associated with beta cell loss, hypoinsulinemia, and glucose intolerance. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	G	6: 23,078,866	S716P	possibly damaging	Het
Abcb5	A	C	12: 118,867,956	N1220K	probably damaging	Het
Acsl3	A	T	1: 78,699,140	E479D	probably damaging	Het
Actn1	A	T	12: 80,171,802	L736*	probably null	Het
Adcyap1	A	G	17: 93,200,026	S5G	possibly damaging	Het
Adgrv1	T	C	13: 81,566,290	N958S	possibly damaging	Het
Armc1	T	A	3: 19,134,061	N274Y	probably damaging	Het
Atp9b	G	A	18: 80,753,051	R926W	probably damaging	Het
Cacna1e	G	T	1: 154,443,845	Q1370K	probably damaging	Het
Ccdc129	A	T	6: 55,967,719	Q475L	probably benign	Het
Cdip1	C	T	16: 4,770,063	S12N	probably benign	Het
Chrna3	T	A	9: 55,016,045	I160F	probably damaging	Het
Cnot1	A	G	8: 95,761,426	I534T	probably damaging	Het
Cr2	T	A	1: 195,163,381	I465F	possibly damaging	Het
Daw1	A	G	1: 83,192,663	D232G	probably benign	Het
Dcaf6	T	C	1: 165,422,864	T144A	probably benign	Het
Dhx30	A	T	9: 110,086,118		probably null	Het
Dnah7a	A	G	1: 53,605,875	S1001P	possibly damaging	Het
Dsg1b	T	C	18: 20,409,618	*1061Q	probably null	Het
Dvl1	G	A	4: 155,847,816	V28I	possibly damaging	Het
Edem3	T	A	1: 151,796,883	V450D	probably damaging	Het
Ephb6	G	T	6: 41,616,085	R419L	possibly damaging	Het
Fbxo10	G	C	4: 45,044,811	P608R	probably damaging	Het
Flrt1	A	G	19: 7,095,829	I451T	probably damaging	Het
Gm6309	A	T	5: 146,168,871	V161E	possibly damaging	Het
Gm884	A	C	11: 103,618,967		probably benign	Het
Heatr5b	A	G	17: 78,773,677	L1382P	probably damaging	Het
Igsf1	C	A	X: 49,783,150	L714F	probably damaging	Het
Inpp4b	C	T	8: 81,997,302	P488S	probably damaging	Het
Ints6l	T	A	X: 56,504,750	H678Q	probably benign	Het
Kdm2a	A	T	19: 4,356,931		probably null	Het
Khdrbs3	G	T	15: 69,092,960	V249F	probably damaging	Het
Kmt2d	A	T	15: 98,861,049		probably null	Het
Laptm4a	T	C	12: 8,922,296		probably null	Het
Lrp2bp	C	T	8: 46,013,169	T105I	probably benign	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,185,261		probably null	Het
Mtmr3	A	T	11: 4,499,032	W244R	probably damaging	Het
Myo18a	A	G	11: 77,818,615	D138G	probably damaging	Het
Nlrp9b	A	T	7: 20,023,662	I275L	probably benign	Het
Nol6	C	T	4: 41,118,720	R719H	probably benign	Het
Olfr191	A	T	16: 59,085,675	D269E	probably benign	Het
Olfr441	T	C	6: 43,116,065	S108P	probably benign	Het
Olfr937	A	T	9: 39,060,405	I87K	probably benign	Het
Omt2b	G	A	9: 78,328,175		probably benign	Het
Pclo	C	T	5: 14,713,848	L4112F	unknown	Het
Pglyrp2	T	C	17: 32,415,957	N477S	probably benign	Het
Phf20	T	C	2: 156,276,654	V426A	probably benign	Het
Pla2g4e	CTT	CTTT	2: 120,191,199		probably null	Het
Plagl1	A	C	10: 13,128,941		probably benign	Het
Ppip5k2	A	G	1: 97,744,110	V479A	probably damaging	Het
Prkdc	A	C	16: 15,698,824	T1021P	probably damaging	Het
Rdh7	C	T	10: 127,888,598	V6I	probably benign	Het
Rictor	A	T	15: 6,759,614	H237L	probably benign	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,579,907		probably benign	Het
Rttn	T	C	18: 89,095,648		probably null	Het
Setd5	C	T	6: 113,111,429	Q173*	probably null	Het
Sipa1l1	T	A	12: 82,396,691	Y918*	probably null	Het
Slc13a1	T	G	6: 24,134,397	E162D	possibly damaging	Het
Slc39a9	G	A	12: 80,662,527	A52T	probably damaging	Het
Srebf1	T	C	11: 60,220,539	D2G	probably damaging	Het
Stab1	A	T	14: 31,142,800	M66K	probably benign	Het
Stab1	T	C	14: 31,159,270	N601S	probably damaging	Het
Sv2b	C	T	7: 75,124,088	G545D	probably damaging	Het
Syt5	G	A	7: 4,543,089	Q101*	probably null	Het
Thada	A	G	17: 84,446,521	F341L	probably benign	Het
Tln2	T	G	9: 67,355,221	I585L	probably damaging	Het
Tmem67	C	G	4: 12,069,413		probably null	Het
Tonsl	G	T	15: 76,632,680	L917M	probably damaging	Het
Ttk	A	G	9: 83,862,183	K519E	probably damaging	Het
Ttn	T	C	2: 76,707,134	T34817A	probably benign	Het
Ubr1	A	T	2: 120,926,047	S700T	probably damaging	Het
Unc13b	C	A	4: 43,245,566	C1312*	probably null	Het
Usp36	A	G	11: 118,285,023	L104P	possibly damaging	Het
Vmn1r216	T	C	13: 23,099,233	F29L	probably benign	Het
Vmn1r225	T	C	17: 20,502,885	I196T	probably damaging	Het
Vmn1r50	T	C	6: 90,108,139	F289L	probably benign	Het
Ythdf3	T	C	3: 16,203,211		probably benign	Het
Zfp507	T	A	7: 35,794,843	K258N	probably damaging	Het
Zscan5b	A	G	7: 6,231,443	H156R	possibly damaging	Het

Other mutations in Dnajb9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01490:Dnajb9	APN	12	44207086	missense	possibly damaging	0.72
IGL02093:Dnajb9	APN	12	44207204	missense	probably damaging	0.99
IGL03383:Dnajb9	APN	12	44208313	splice site	probably benign
R0355:Dnajb9	UTSW	12	44207204	missense	probably damaging	0.98
R0595:Dnajb9	UTSW	12	44208284	missense	probably benign	0.00
R4192:Dnajb9	UTSW	12	44207077	missense	probably benign	0.01
R7574:Dnajb9	UTSW	12	44207386	missense	probably damaging	1.00
R8213:Dnajb9	UTSW	12	44207133	missense	probably benign	0.18
X0067:Dnajb9	UTSW	12	44207333	missense	possibly damaging	0.63

Predicted Primers

PCR Primer
(F):5'- CAGCTTAACATAAGTGAAATCATGC -3'
(R):5'- TGGGAGTCCTTTTGAACAGTC -3'

Sequencing Primer
(F):5'- CATGCATTTACCAAAATAGTTCACAG -3'
(R):5'- GGAGTCCTTTTGAACAGTCATTTAAC -3'

Posted On

2014-10-02