Mutagenetix > Incidental Mutation

Incidental Mutation 'R1199:Dnajc28'

101255

Institutional Source

Beutler Lab

Gene Symbol

Dnajc28

Ensembl Gene

ENSMUSG00000039763

Gene Name

DnaJ heat shock protein family (Hsp40) member C28

Synonyms

ORF28

MMRRC Submission

039269-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1199 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

91411142-91415914 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to A at 91415530 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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 benign
Transcript: ENSMUST00000049244

SMART Domains

Protein: ENSMUSP00000048113
Gene: ENSMUSG00000039763

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

probably benign
Transcript: ENSMUST00000143058

SMART Domains

Protein: ENSMUSP00000120318
Gene: ENSMUSG00000039763

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

SMART Domains

Protein: ENSMUSP00000132288
Gene: ENSMUSG00000039763

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: ENSMUST00000232289

Predicted Effect

probably benign
Transcript: ENSMUST00000232640

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232620

Predicted Effect

probably benign
Transcript: ENSMUST00000232643

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.5%

Validation Efficiency

96% (55/57)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700102P08Rik	A	T	9: 108,270,676 (GRCm39)	H80L	possibly damaging	Het
A1bg	A	T	15: 60,791,484 (GRCm39)		probably null	Het
Aco2	C	T	15: 81,779,394 (GRCm39)	S33L	probably damaging	Het
Agrn	T	A	4: 156,256,756 (GRCm39)	Y1283F	probably benign	Het
Akap6	T	C	12: 52,842,973 (GRCm39)	V107A	probably damaging	Het
Amph	G	A	13: 19,326,198 (GRCm39)	V643M	probably damaging	Het
Btnl9	A	T	11: 49,071,574 (GRCm39)	V83E	probably damaging	Het
Camk2a	T	A	18: 61,085,396 (GRCm39)	C131*	probably null	Het
Ccdc14	C	T	16: 34,544,198 (GRCm39)	T852M	probably damaging	Het
Cntn4	T	C	6: 106,330,558 (GRCm39)		probably benign	Het
Cp	T	G	3: 20,031,316 (GRCm39)	S585R	probably damaging	Het
Cpt1b	G	A	15: 89,303,213 (GRCm39)	A614V	probably benign	Het
Crygn	T	C	5: 24,956,146 (GRCm39)	Y153C	probably damaging	Het
Dennd1a	A	T	2: 37,851,728 (GRCm39)	D53E	probably damaging	Het
Deptor	T	C	15: 55,115,406 (GRCm39)	C357R	probably benign	Het
Eml6	G	A	11: 29,705,044 (GRCm39)	A1500V	possibly damaging	Het
Fgd5	T	A	6: 91,963,959 (GRCm39)	L64Q	possibly damaging	Het
Fgfbp1	A	G	5: 44,136,939 (GRCm39)	Y118H	probably damaging	Het
Ftcd	G	A	10: 76,415,653 (GRCm39)	R135H	probably damaging	Het
Gm5174	A	T	10: 86,493,189 (GRCm39)		noncoding transcript	Het
Gpr37l1	A	T	1: 135,094,710 (GRCm39)	L178Q	probably damaging	Het
Gtf2ird1	A	G	5: 134,439,918 (GRCm39)	V104A	possibly damaging	Het
Irs1	T	A	1: 82,267,347 (GRCm39)	S290C	probably damaging	Het
Kel	C	T	6: 41,665,525 (GRCm39)	V532I	possibly damaging	Het
Kif1c	A	G	11: 70,599,427 (GRCm39)	E442G	possibly damaging	Het
Klhdc10	T	A	6: 30,449,493 (GRCm39)	V185D	probably damaging	Het
Lpp	C	T	16: 24,500,610 (GRCm39)	R141C	probably damaging	Het
Or52a5	A	T	7: 103,427,192 (GRCm39)	M120K	probably damaging	Het
Or5m13	A	G	2: 85,748,379 (GRCm39)	I37V	probably benign	Het
Pcnx2	G	T	8: 126,614,053 (GRCm39)	P466H	possibly damaging	Het
Pcsk1	A	T	13: 75,244,532 (GRCm39)		probably benign	Het
Pkd2l2	T	C	18: 34,571,269 (GRCm39)		probably null	Het
Pomt1	A	G	2: 32,140,504 (GRCm39)	N454S	probably benign	Het
Samhd1	A	T	2: 156,951,381 (GRCm39)	I452N	probably damaging	Het
Sez6	A	G	11: 77,844,711 (GRCm39)	Q178R	probably benign	Het
Slc25a44	A	G	3: 88,328,293 (GRCm39)	V66A	probably damaging	Het
Slc46a2	T	C	4: 59,914,189 (GRCm39)	T245A	probably benign	Het
Slc4a4	G	A	5: 89,363,653 (GRCm39)		probably null	Het
Spata6	T	A	4: 111,656,342 (GRCm39)	C329S	possibly damaging	Het
Srrm2	A	T	17: 24,036,725 (GRCm39)		probably benign	Het
Stard9	C	A	2: 120,504,117 (GRCm39)	S221R	probably damaging	Het
Svil	T	A	18: 5,059,217 (GRCm39)		probably benign	Het
Tenm3	G	T	8: 48,688,617 (GRCm39)	S2323R	probably damaging	Het
Tsc1	G	A	2: 28,555,638 (GRCm39)	R245Q	probably damaging	Het
Ttn	A	G	2: 76,739,100 (GRCm39)	V3813A	probably benign	Het
Ttn	G	A	2: 76,780,388 (GRCm39)	T1121M	possibly damaging	Het
Ush2a	G	A	1: 188,491,992 (GRCm39)	V3094I	probably benign	Het
Vcan	A	G	13: 89,827,913 (GRCm39)		probably null	Het
Vmn1r189	A	T	13: 22,286,828 (GRCm39)	L3Q	probably damaging	Het
Vmn1r60	A	C	7: 5,547,971 (GRCm39)	V43G	probably damaging	Het
Vmn2r110	A	G	17: 20,803,525 (GRCm39)	I350T	probably benign	Het
Vmn2r86	T	A	10: 130,284,443 (GRCm39)		probably benign	Het
Xrn1	A	G	9: 95,863,814 (GRCm39)		probably benign	Het
Zfp251	C	T	15: 76,738,436 (GRCm39)	R219Q	possibly 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
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
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'- ACCTCGCTATTTGCTAGGTGCCAG -3'
(R):5'- CTGCCGGAGAACTACATTTCCCAC -3'

Sequencing Primer
(F):5'- CTAGGTGCCAGGGCAAG -3'
(R):5'- AAAGAGATCGCTGTCCCTG -3'

Posted On

2014-01-15