Mutagenetix > Incidental Mutation

Incidental Mutation 'R6372:Dnajc28'

513604

Institutional Source

Beutler Lab

Gene Symbol

Dnajc28

Ensembl Gene

ENSMUSG00000039763

Gene Name

DnaJ heat shock protein family (Hsp40) member C28

Synonyms

ORF28

MMRRC Submission

044522-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6372 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

91411142-91415914 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 91414176 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 23 (I23V)

Ref Sequence

ENSEMBL: ENSMUSP00000118526 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023684] [ENSMUST00000049244] [ENSMUST00000133731] [ENSMUST00000143058] [ENSMUST00000156713] [ENSMUST00000169982] [ENSMUST00000232640] [ENSMUST00000232289]

AlphaFold

Q8VCE1

Predicted Effect

probably benign
Transcript: ENSMUST00000023684

SMART Domains

Protein: ENSMUSP00000023684
Gene: ENSMUSG00000022962

Domain	Start	End	E-Value	Type
Pfam:GARS_N	3	104	6.4e-37	PFAM
GARS_A	105	298	4.42e-132	SMART
GARS_C	333	426	1.33e-44	SMART
Pfam:AIRS	473	593	1.2e-17	PFAM
Pfam:AIRS_C	606	777	9e-40	PFAM
Pfam:Formyl_trans_N	808	988	3.4e-68	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000049244
AA Change: I23V

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

SMART Domains

Protein: ENSMUSP00000048113
Gene: ENSMUSG00000039763
AA Change: I23V

Domain	Start	End	E-Value	Type
DnaJ	47	105	1.04e-11	SMART
low complexity region	112	123	N/A	INTRINSIC
Pfam:DUF1992	203	342	4.7e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000133731
AA Change: I23V

PolyPhen 2 Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000118526
Gene: ENSMUSG00000039763
AA Change: I23V

Domain	Start	End	E-Value	Type
DnaJ	47	84	6.65e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138207

Predicted Effect

probably benign
Transcript: ENSMUST00000143058
AA Change: I47V

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000120318
Gene: ENSMUSG00000039763
AA Change: I47V

Domain	Start	End	E-Value	Type
DnaJ	71	129	1.04e-11	SMART
low complexity region	136	147	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000156713

SMART Domains

Protein: ENSMUSP00000119272
Gene: ENSMUSG00000022962

Domain	Start	End	E-Value	Type
Pfam:GARS_N	3	104	1.4e-40	PFAM
GARS_A	105	298	4.42e-132	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000169982
AA Change: I47V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000132288
Gene: ENSMUSG00000039763
AA Change: I47V

Domain	Start	End	E-Value	Type
DnaJ	71	129	1.04e-11	SMART
low complexity region	136	147	N/A	INTRINSIC
Pfam:DUF1992	227	295	1.2e-24	PFAM
coiled coil region	312	342	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232620

Predicted Effect

probably benign
Transcript: ENSMUST00000232640

Predicted Effect

probably benign
Transcript: ENSMUST00000232289

Predicted Effect

probably benign
Transcript: ENSMUST00000232643

Meta Mutation Damage Score

0.0708

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

97% (59/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the DnaJ heat shock protein family. The encoded protein, which contains a conserved N-terminal DnaJ domain, is thought to play a role in protein folding or act as a molecular chaperone protein. [provided by RefSeq, Oct 2016]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	A	10: 87,066,088 (GRCm39)	H136Q	possibly damaging	Het
Aim2	T	A	1: 173,282,802 (GRCm39)		probably null	Het
Atp13a3	T	C	16: 30,162,273 (GRCm39)	H696R	probably damaging	Het
Atrnl1	T	C	19: 57,638,764 (GRCm39)	S301P	probably benign	Het
Atxn1	T	A	13: 45,710,932 (GRCm39)	I667F	probably damaging	Het
Cacnb4	T	A	2: 52,324,679 (GRCm39)	Y415F	probably benign	Het
Ccdc183	T	C	2: 25,506,176 (GRCm39)	D140G	probably benign	Het
Clec2g	A	C	6: 128,925,726 (GRCm39)	H45P	probably benign	Het
Col5a3	A	G	9: 20,696,882 (GRCm39)	V917A	probably damaging	Het
Cryga	T	C	1: 65,142,204 (GRCm39)	Y63C	probably damaging	Het
Elovl6	T	C	3: 129,426,751 (GRCm39)	F139S	probably damaging	Het
Fcgbp	A	G	7: 27,806,433 (GRCm39)	T2134A	probably damaging	Het
Fcrl5	C	T	3: 87,351,501 (GRCm39)	Q250*	probably null	Het
Gimap1	T	A	6: 48,720,290 (GRCm39)	*301K	probably null	Het
Gm17472	T	C	6: 42,957,823 (GRCm39)	S31P	possibly damaging	Het
Gm2381	G	A	7: 42,470,010 (GRCm39)	A38V	probably benign	Het
Gnl1	T	C	17: 36,293,427 (GRCm39)	F204S	probably damaging	Het
Helz2	C	T	2: 180,875,260 (GRCm39)	E1745K	probably damaging	Het
Hk1	T	C	10: 62,127,757 (GRCm39)	H370R	probably benign	Het
Ighv7-2	G	A	12: 113,876,075 (GRCm39)	T10I	probably benign	Het
Itga9	A	G	9: 118,726,389 (GRCm39)	K448E	probably damaging	Het
Lama4	C	A	10: 38,943,948 (GRCm39)	N750K	probably benign	Het
Megf11	T	C	9: 64,613,907 (GRCm39)	Y1077H	probably damaging	Het
Mrpl45	T	C	11: 97,212,388 (GRCm39)		probably benign	Het
Nbeal2	T	C	9: 110,457,812 (GRCm39)	D2185G	possibly damaging	Het
Ncoa3	C	T	2: 165,901,267 (GRCm39)	S953F	possibly damaging	Het
Nlrc5	T	C	8: 95,206,378 (GRCm39)	L743P	probably damaging	Het
Nol4	A	G	18: 23,171,613 (GRCm39)		probably null	Het
Nol9	T	C	4: 152,130,452 (GRCm39)	S329P	probably damaging	Het
Ntrk1	T	C	3: 87,693,355 (GRCm39)	D259G	probably benign	Het
Or2y11	A	G	11: 49,442,757 (GRCm39)	Y61C	probably damaging	Het
Or4k40	T	A	2: 111,251,147 (GRCm39)	I50F	probably benign	Het
Or5al5	T	C	2: 85,961,198 (GRCm39)	T270A	possibly damaging	Het
Or5d16	T	C	2: 87,773,319 (GRCm39)	T218A	probably benign	Het
Or8h8	T	A	2: 86,753,499 (GRCm39)	I126F	probably damaging	Het
Pbx4	C	A	8: 70,324,694 (GRCm39)	A365E	possibly damaging	Het
Pcdhb19	T	A	18: 37,630,419 (GRCm39)	N71K	probably benign	Het
Pde2a	G	A	7: 101,130,599 (GRCm39)	A80T	probably benign	Het
Psmb5	C	A	14: 54,854,130 (GRCm39)	R116L	probably damaging	Het
Recql	A	G	6: 142,322,566 (GRCm39)	V112A	probably damaging	Het
Rhbdl3	C	A	11: 80,221,482 (GRCm39)	L207I	probably damaging	Het
Rtkn	A	G	6: 83,128,882 (GRCm39)	D459G	possibly damaging	Het
Rubcnl	C	A	14: 75,285,009 (GRCm39)	S509R	probably damaging	Het
Slc26a8	T	C	17: 28,863,777 (GRCm39)	T661A	probably benign	Het
Sspo	A	T	6: 48,449,475 (GRCm39)	D2472V	probably damaging	Het
Taf4b	T	G	18: 14,937,790 (GRCm39)	V258G	probably damaging	Het
Tbc1d19	T	G	5: 54,014,252 (GRCm39)	S293R	possibly damaging	Het
Tecpr1	C	T	5: 144,153,776 (GRCm39)	R159Q	probably damaging	Het
Tlr3	A	G	8: 45,850,048 (GRCm39)	S874P	probably damaging	Het
Tnk2	T	A	16: 32,498,603 (GRCm39)	W639R	probably damaging	Het
Tpmt	C	T	13: 47,189,370 (GRCm39)		probably null	Het
Trappc9	T	A	15: 72,461,923 (GRCm39)	D935V	possibly damaging	Het
Trav13d-4	T	C	14: 53,995,118 (GRCm39)	V4A	probably damaging	Het
Ubn1	C	T	16: 4,899,502 (GRCm39)	T1082I	possibly damaging	Het
Usf2	G	A	7: 30,654,738 (GRCm39)	Q35*	probably null	Het
Vmn1r57	T	C	7: 5,223,826 (GRCm39)	M117T	possibly damaging	Het
Vmn2r65	G	T	7: 84,589,861 (GRCm39)	A685E	probably damaging	Het
Vxn	G	A	1: 9,683,546 (GRCm39)	E45K	probably damaging	Het
Zeb2	T	C	2: 44,892,551 (GRCm39)	E166G	probably damaging	Het
Zfp808	T	C	13: 62,320,291 (GRCm39)	S507P	probably damaging	Het

Other mutations in Dnajc28

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02878:Dnajc28	APN	16	91,413,329 (GRCm39)	missense	possibly damaging	0.49
R1199:Dnajc28	UTSW	16	91,415,530 (GRCm39)	unclassified	probably benign
R2265:Dnajc28	UTSW	16	91,413,200 (GRCm39)	missense	probably benign	0.00
R2266:Dnajc28	UTSW	16	91,413,200 (GRCm39)	missense	probably benign	0.00
R2276:Dnajc28	UTSW	16	91,413,755 (GRCm39)	missense	probably damaging	1.00
R2277:Dnajc28	UTSW	16	91,413,755 (GRCm39)	missense	probably damaging	1.00
R2278:Dnajc28	UTSW	16	91,413,755 (GRCm39)	missense	probably damaging	1.00
R2364:Dnajc28	UTSW	16	91,413,755 (GRCm39)	missense	probably damaging	1.00
R2366:Dnajc28	UTSW	16	91,413,755 (GRCm39)	missense	probably damaging	1.00
R2367:Dnajc28	UTSW	16	91,413,755 (GRCm39)	missense	probably damaging	1.00
R2447:Dnajc28	UTSW	16	91,413,755 (GRCm39)	missense	probably damaging	1.00
R3757:Dnajc28	UTSW	16	91,413,755 (GRCm39)	missense	probably damaging	1.00
R3890:Dnajc28	UTSW	16	91,413,755 (GRCm39)	missense	probably damaging	1.00
R4087:Dnajc28	UTSW	16	91,413,755 (GRCm39)	missense	probably damaging	1.00
R4088:Dnajc28	UTSW	16	91,413,755 (GRCm39)	missense	probably damaging	1.00
R4110:Dnajc28	UTSW	16	91,413,755 (GRCm39)	missense	probably damaging	1.00
R4112:Dnajc28	UTSW	16	91,413,755 (GRCm39)	missense	probably damaging	1.00
R4113:Dnajc28	UTSW	16	91,413,755 (GRCm39)	missense	probably damaging	1.00
R6613:Dnajc28	UTSW	16	91,413,246 (GRCm39)	nonsense	probably null
R8061:Dnajc28	UTSW	16	91,414,058 (GRCm39)	missense	possibly damaging	0.70
R8163:Dnajc28	UTSW	16	91,413,795 (GRCm39)	nonsense	probably null
R8165:Dnajc28	UTSW	16	91,413,795 (GRCm39)	nonsense	probably null
R8172:Dnajc28	UTSW	16	91,413,795 (GRCm39)	nonsense	probably null
R8174:Dnajc28	UTSW	16	91,413,795 (GRCm39)	nonsense	probably null
Z1176:Dnajc28	UTSW	16	91,413,921 (GRCm39)	missense	probably benign	0.25

Predicted Primers

PCR Primer
(F):5'- GACAGCACATTCCTGTAAGCC -3'
(R):5'- TGGAACCCATACCCTTACCTGG -3'

Sequencing Primer
(F):5'- TGTTGCAGAGTCAGCATCAC -3'
(R):5'- CCCTTACCTGGTTATTGATGAAAAG -3'

Posted On

2018-04-27