Mutagenetix > Incidental Mutation

Incidental Mutation 'R2276:Dnajc28'

242831

Institutional Source

Beutler Lab

Gene Symbol

Dnajc28

Ensembl Gene

ENSMUSG00000039763

Gene Name

DnaJ heat shock protein family (Hsp40) member C28

Synonyms

ORF28

MMRRC Submission

040275-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2276 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

91411142-91415914 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 91413755 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 187 (T187M)

Ref Sequence

ENSEMBL: ENSMUSP00000132288 (fasta)

Gene Model

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

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 damaging
Transcript: ENSMUST00000049244
AA Change: T163M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000048113
Gene: ENSMUSG00000039763
AA Change: T163M

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

SMART Domains

Protein: ENSMUSP00000118526
Gene: ENSMUSG00000039763

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138207

Predicted Effect

possibly damaging
Transcript: ENSMUST00000143058
AA Change: T187M

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000120318
Gene: ENSMUSG00000039763
AA Change: T187M

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 damaging
Transcript: ENSMUST00000169982
AA Change: T187M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000132288
Gene: ENSMUSG00000039763
AA Change: T187M

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

probably benign
Transcript: ENSMUST00000232643

Predicted Effect

probably benign
Transcript: ENSMUST00000232289

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232620

Predicted Effect

probably benign
Transcript: ENSMUST00000232640

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (65/65)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap11	T	A	14: 78,747,477 (GRCm39)	I1637L	possibly damaging	Het
Ankrd27	T	C	7: 35,315,265 (GRCm39)		probably benign	Het
Anxa3	T	C	5: 96,978,349 (GRCm39)		probably null	Het
Arfgef2	G	C	2: 166,707,679 (GRCm39)	G1025A	probably benign	Het
Arhgap21	T	C	2: 20,868,037 (GRCm39)	I829V	possibly damaging	Het
Arhgap42	T	C	9: 9,035,512 (GRCm39)	M277V	probably benign	Het
Cep112	A	T	11: 108,746,671 (GRCm39)	R176S	probably damaging	Het
Chd9	C	T	8: 91,760,615 (GRCm39)	P2120L	probably benign	Het
Cnga1	C	T	5: 72,776,404 (GRCm39)	V20I	possibly damaging	Het
Cpped1	A	C	16: 11,712,745 (GRCm39)		probably null	Het
Cr2	T	C	1: 194,839,676 (GRCm39)	R960G	possibly damaging	Het
Dbf4	T	C	5: 8,471,333 (GRCm39)	N36S	possibly damaging	Het
Dnah6	G	A	6: 73,090,564 (GRCm39)	S2210L	probably benign	Het
Dnajb12	C	T	10: 59,728,799 (GRCm39)	T229I	probably benign	Het
Epb41l2	T	C	10: 25,364,842 (GRCm39)		probably benign	Het
Fam178b	A	G	1: 36,671,539 (GRCm39)	L194P	probably damaging	Het
Fam50b	C	T	13: 34,930,823 (GRCm39)	Q100*	probably null	Het
Gimap9	A	G	6: 48,654,812 (GRCm39)	H133R	probably benign	Het
Gpbp1	A	T	13: 111,603,512 (GRCm39)		probably null	Het
Gpr89	A	G	3: 96,804,743 (GRCm39)	Y38H	probably damaging	Het
Gsdmc3	T	A	15: 63,732,105 (GRCm39)	Y307F	probably benign	Het
H4c16	T	A	6: 136,781,299 (GRCm39)	I27F	probably damaging	Het
Hip1	C	T	5: 135,485,900 (GRCm39)	R101K	probably damaging	Het
Hsf4	G	A	8: 105,996,628 (GRCm39)	D18N	probably null	Het
Igfn1	T	C	1: 135,892,479 (GRCm39)	K2214E	probably damaging	Het
Itgal	A	T	7: 126,927,919 (GRCm39)	E1038V	probably null	Het
Kank2	C	A	9: 21,681,080 (GRCm39)	M816I	probably damaging	Het
Kctd15	T	C	7: 34,344,366 (GRCm39)	D95G	possibly damaging	Het
Kif1a	A	T	1: 92,996,199 (GRCm39)		probably benign	Het
Lgi4	T	G	7: 30,760,037 (GRCm39)	L78V	probably damaging	Het
Lrrc7	A	G	3: 157,885,429 (GRCm39)	F432L	probably damaging	Het
Madd	A	T	2: 90,974,028 (GRCm39)	C1419S	possibly damaging	Het
Nisch	T	C	14: 30,898,803 (GRCm39)		probably benign	Het
Or2h1b	A	T	17: 37,462,145 (GRCm39)	C239*	probably null	Het
Osbpl2	G	A	2: 179,790,319 (GRCm39)	G198S	possibly damaging	Het
Pclo	T	A	5: 14,764,287 (GRCm39)	D4253E	unknown	Het
Phactr1	A	T	13: 43,231,265 (GRCm39)	S244C	possibly damaging	Het
Pja2	T	C	17: 64,599,865 (GRCm39)	S478G	probably damaging	Het
Prex1	A	T	2: 166,419,875 (GRCm39)	I79N	probably benign	Het
Ptpn4	T	C	1: 119,612,321 (GRCm39)	D24G	probably damaging	Het
Rars2	T	C	4: 34,656,835 (GRCm39)	S495P	probably damaging	Het
Rhebl1	A	T	15: 98,776,167 (GRCm39)	D162E	probably benign	Het
Rhou	T	C	8: 124,382,258 (GRCm39)	V100A	probably damaging	Het
Rpn2	A	G	2: 157,152,208 (GRCm39)	T394A	possibly damaging	Het
Ryr3	A	T	2: 112,479,664 (GRCm39)	M4386K	possibly damaging	Het
Scmh1	G	T	4: 120,340,869 (GRCm39)	C185F	probably damaging	Het
Sema3d	A	T	5: 12,592,549 (GRCm39)	Q326L	possibly damaging	Het
Sis	T	A	3: 72,821,934 (GRCm39)	K1376*	probably null	Het
Slc25a29	T	C	12: 108,792,852 (GRCm39)	E242G	probably benign	Het
Slc26a5	A	G	5: 22,028,545 (GRCm39)	V304A	probably benign	Het
Slc39a7	C	T	17: 34,250,241 (GRCm39)		probably benign	Het
Slco1a4	A	G	6: 141,761,308 (GRCm39)	V435A	possibly damaging	Het
Syne2	A	G	12: 75,974,240 (GRCm39)	E1146G	possibly damaging	Het
Tgm5	T	A	2: 120,879,304 (GRCm39)		probably benign	Het
Tgm7	A	G	2: 120,929,045 (GRCm39)	S284P	probably damaging	Het
Tmem132d	G	A	5: 127,872,987 (GRCm39)	R541W	probably damaging	Het
Tmem170	C	A	8: 112,596,349 (GRCm39)	V59L	probably benign	Het
Tpbgl	G	T	7: 99,275,233 (GRCm39)	A208E	possibly damaging	Het
Ttc23l	A	G	15: 10,523,678 (GRCm39)	I347T	possibly damaging	Het
Ulk1	T	C	5: 110,936,028 (GRCm39)	E827G	probably benign	Het
Vps13a	A	G	19: 16,687,790 (GRCm39)	V886A	possibly damaging	Het
Wrn	A	T	8: 33,814,584 (GRCm39)	C44S	probably benign	Het
Zscan22	T	A	7: 12,640,750 (GRCm39)	C331*	probably null	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
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
R6372:Dnajc28	UTSW	16	91,414,176 (GRCm39)	missense	probably benign	0.36
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'- AGCCAGAAAATTTCTTCAGCG -3'
(R):5'- GCTGTCCCATGCGATAAAACG -3'

Sequencing Primer
(F):5'- TTTCCCGCTGAGATTGTCAAAG -3'
(R):5'- TGCGATAAAACGGATGCATGCC -3'

Posted On

2014-10-16