Mutagenetix > Incidental Mutation

Incidental Mutation 'R4110:Dnajb12'

317260

Institutional Source

Beutler Lab

Gene Symbol

Dnajb12

Ensembl Gene

ENSMUSG00000020109

Gene Name

DnaJ heat shock protein family (Hsp40) member B12

Synonyms

mDj10

MMRRC Submission

040988-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R4110 (G1)

Quality Score

204

Status

Validated

Chromosome

Chromosomal Location

59715405-59735118 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 59730136 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 270 (S270R)

Ref Sequence

ENSEMBL: ENSMUSP00000116577 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020309] [ENSMUST00000131810] [ENSMUST00000142819] [ENSMUST00000146590] [ENSMUST00000147914]

AlphaFold

Q9QYI4

Predicted Effect

probably benign
Transcript: ENSMUST00000020309
AA Change: S270R

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000020309
Gene: ENSMUSG00000020109
AA Change: S270R

Domain	Start	End	E-Value	Type
low complexity region	57	80	N/A	INTRINSIC
low complexity region	81	94	N/A	INTRINSIC
DnaJ	110	167	3.18e-30	SMART
low complexity region	231	244	N/A	INTRINSIC
Pfam:DUF1977	262	370	2.8e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000131810

SMART Domains

Protein: ENSMUSP00000116244
Gene: ENSMUSG00000020109

Domain	Start	End	E-Value	Type
SCOP:d1a17__	2	40	4e-3	SMART
low complexity region	57	80	N/A	INTRINSIC
low complexity region	81	94	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000142819
AA Change: S270R

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000118088
Gene: ENSMUSG00000020109
AA Change: S270R

Domain	Start	End	E-Value	Type
low complexity region	57	80	N/A	INTRINSIC
low complexity region	81	94	N/A	INTRINSIC
DnaJ	110	167	3.18e-30	SMART
low complexity region	231	244	N/A	INTRINSIC
Pfam:DUF1977	262	370	2.8e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000146590
AA Change: S270R

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000122056
Gene: ENSMUSG00000020109
AA Change: S270R

Domain	Start	End	E-Value	Type
low complexity region	57	80	N/A	INTRINSIC
low complexity region	81	94	N/A	INTRINSIC
DnaJ	110	167	3.18e-30	SMART
low complexity region	231	244	N/A	INTRINSIC
Pfam:DUF1977	262	370	2.8e-44	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000147914
AA Change: S270R

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000116577
Gene: ENSMUSG00000020109
AA Change: S270R

Domain	Start	End	E-Value	Type
low complexity region	57	80	N/A	INTRINSIC
low complexity region	81	94	N/A	INTRINSIC
DnaJ	110	167	3.18e-30	SMART
low complexity region	231	244	N/A	INTRINSIC
Pfam:DUF1977	263	369	9.2e-31	PFAM

Meta Mutation Damage Score

0.0963

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.3%
20x: 95.6%

Validation Efficiency

100% (61/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DNAJB12 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus; a glycine/phenylalanine (G/F)-rich region; and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain (Ohtsuka and Hata, 2000 [PubMed 11147971]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
Acot10	A	T	15: 20,666,612 (GRCm39)	L43Q	probably damaging	Het
Alms1	G	A	6: 85,597,870 (GRCm39)	V1368I	probably benign	Het
Als2cl	T	C	9: 110,713,115 (GRCm39)	S2P	probably benign	Het
AW209491	T	C	13: 14,812,158 (GRCm39)	V337A	probably damaging	Het
Bace2	A	G	16: 97,237,856 (GRCm39)	T436A	probably benign	Het
BC023105	A	G	18: 60,575,356 (GRCm39)		noncoding transcript	Het
Blvra	T	C	2: 126,937,075 (GRCm39)	V176A	probably damaging	Het
Casp2	G	A	6: 42,244,828 (GRCm39)	A76T	probably damaging	Het
Ccdc88c	A	G	12: 100,911,332 (GRCm39)	L34P	probably damaging	Het
Cep250	G	A	2: 155,834,552 (GRCm39)	R2159K	probably damaging	Het
Col6a2	T	A	10: 76,442,003 (GRCm39)		probably null	Het
Cse1l	T	C	2: 166,783,970 (GRCm39)	Y488H	probably benign	Het
Dip2c	G	T	13: 9,687,137 (GRCm39)	G1254C	probably damaging	Het
Dnajc28	G	A	16: 91,413,755 (GRCm39)	T187M	probably damaging	Het
Dscaml1	G	A	9: 45,643,366 (GRCm39)	A1262T	probably benign	Het
Dtwd2	A	C	18: 49,831,373 (GRCm39)		probably benign	Het
Fadd	C	A	7: 144,134,488 (GRCm39)	K132N	possibly damaging	Het
Fndc3c1	T	C	X: 105,487,897 (GRCm39)	N462S	probably benign	Het
Fzd3	A	G	14: 65,472,616 (GRCm39)	V384A	probably benign	Het
Gm6370	T	C	5: 146,430,702 (GRCm39)	S296P	probably benign	Het
Gsdmc	T	A	15: 63,651,876 (GRCm39)	H245L	probably benign	Het
H13	T	C	2: 152,523,029 (GRCm39)	I114T	probably damaging	Het
Hhipl2	A	G	1: 183,204,920 (GRCm39)	R78G	probably benign	Het
Hrh3	C	A	2: 179,744,643 (GRCm39)	R99L	possibly damaging	Het
Ldc1	A	T	4: 130,112,967 (GRCm39)	L143Q	probably damaging	Het
Man2c1	A	G	9: 57,044,055 (GRCm39)	N330S	probably damaging	Het
Muc19	T	A	15: 91,781,816 (GRCm39)		noncoding transcript	Het
Myh14	T	G	7: 44,277,974 (GRCm39)	M1092L	probably benign	Het
Neb	A	G	2: 52,038,778 (GRCm39)	I2899T	probably benign	Het
Neb	T	A	2: 52,134,137 (GRCm39)	Q3282L	probably damaging	Het
Nqo2	A	T	13: 34,163,620 (GRCm39)	Q93L	probably benign	Het
Or13a18	T	A	7: 140,190,178 (GRCm39)	L33Q	possibly damaging	Het
Or13a18	C	A	7: 140,190,177 (GRCm39)	L33M	probably benign	Het
Or4a2	C	A	2: 89,248,444 (GRCm39)	L104F	probably benign	Het
Or51i2	T	C	7: 103,689,609 (GRCm39)	V202A	probably damaging	Het
Pcsk1	A	G	13: 75,244,488 (GRCm39)	N122S	probably damaging	Het
Pdzrn4	A	G	15: 92,668,745 (GRCm39)	I966V	probably benign	Het
Phldb1	G	A	9: 44,627,128 (GRCm39)	T439I	possibly damaging	Het
Pign	A	G	1: 105,481,540 (GRCm39)		probably benign	Het
Pkn1	A	T	8: 84,417,828 (GRCm39)	D120E	probably benign	Het
Ptpru	A	G	4: 131,546,348 (GRCm39)	Y301H	probably damaging	Het
Raly	C	T	2: 154,699,378 (GRCm39)	Q61*	probably null	Het
Rpl24	T	C	16: 55,791,723 (GRCm39)	V148A	probably benign	Het
S100a16	A	G	3: 90,449,379 (GRCm39)	N18S	probably damaging	Het
Sec31b	G	T	19: 44,512,968 (GRCm39)	T507N	possibly damaging	Het
Sgca	T	C	11: 94,863,396 (GRCm39)	T27A	possibly damaging	Het
Slc22a12	C	A	19: 6,590,658 (GRCm39)	R203L	probably damaging	Het
Ssbp3	C	A	4: 106,904,393 (GRCm39)		probably benign	Het
Sucnr1	C	G	3: 59,994,215 (GRCm39)	R248G	probably damaging	Het
Tbr1	C	T	2: 61,642,076 (GRCm39)	P184L	probably benign	Het
Thsd7b	A	T	1: 130,044,356 (GRCm39)	D1112V	probably benign	Het
Tnc	A	G	4: 63,933,188 (GRCm39)	V692A	probably damaging	Het
Top2a	C	A	11: 98,913,786 (GRCm39)	K18N	probably damaging	Het
Topbp1	G	T	9: 103,187,158 (GRCm39)	R121L	probably damaging	Het
Unc79	T	C	12: 103,025,629 (GRCm39)	C339R	probably damaging	Het
Wdfy3	C	T	5: 102,047,924 (GRCm39)		probably null	Het
Zbtb3	G	C	19: 8,780,384 (GRCm39)		probably benign	Het
Zfp715	T	A	7: 42,947,304 (GRCm39)	K885N	possibly damaging	Het

Other mutations in Dnajb12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02616:Dnajb12	APN	10	59,728,685 (GRCm39)	splice site	probably null
IGL03412:Dnajb12	APN	10	59,725,895 (GRCm39)	missense	probably benign	0.44
PIT4382001:Dnajb12	UTSW	10	59,728,508 (GRCm39)	missense	probably damaging	1.00
R0496:Dnajb12	UTSW	10	59,715,623 (GRCm39)	nonsense	probably null
R1692:Dnajb12	UTSW	10	59,732,199 (GRCm39)	missense	probably damaging	1.00
R2087:Dnajb12	UTSW	10	59,726,667 (GRCm39)	missense	possibly damaging	0.82
R2276:Dnajb12	UTSW	10	59,728,799 (GRCm39)	missense	probably benign	0.31
R4113:Dnajb12	UTSW	10	59,730,136 (GRCm39)	missense	possibly damaging	0.78
R4365:Dnajb12	UTSW	10	59,715,588 (GRCm39)	missense	probably damaging	1.00
R4382:Dnajb12	UTSW	10	59,733,321 (GRCm39)	missense	probably benign
R4757:Dnajb12	UTSW	10	59,728,592 (GRCm39)	missense	probably benign
R5156:Dnajb12	UTSW	10	59,728,782 (GRCm39)	missense	probably damaging	1.00
R5455:Dnajb12	UTSW	10	59,728,574 (GRCm39)	frame shift	probably null
R5484:Dnajb12	UTSW	10	59,728,574 (GRCm39)	frame shift	probably null
R5486:Dnajb12	UTSW	10	59,728,574 (GRCm39)	frame shift	probably null
R5487:Dnajb12	UTSW	10	59,728,574 (GRCm39)	frame shift	probably null
R5504:Dnajb12	UTSW	10	59,728,574 (GRCm39)	frame shift	probably null
R5506:Dnajb12	UTSW	10	59,728,574 (GRCm39)	frame shift	probably null
R5507:Dnajb12	UTSW	10	59,728,574 (GRCm39)	frame shift	probably null
R5560:Dnajb12	UTSW	10	59,728,574 (GRCm39)	frame shift	probably null
R5561:Dnajb12	UTSW	10	59,728,574 (GRCm39)	frame shift	probably null
R5601:Dnajb12	UTSW	10	59,728,574 (GRCm39)	frame shift	probably null
R5603:Dnajb12	UTSW	10	59,728,574 (GRCm39)	frame shift	probably null
R5604:Dnajb12	UTSW	10	59,728,574 (GRCm39)	frame shift	probably null
R6013:Dnajb12	UTSW	10	59,730,163 (GRCm39)	critical splice donor site	probably null
R6724:Dnajb12	UTSW	10	59,728,602 (GRCm39)	missense	possibly damaging	0.92
R6935:Dnajb12	UTSW	10	59,732,325 (GRCm39)	critical splice donor site	probably null
R8044:Dnajb12	UTSW	10	59,732,172 (GRCm39)	missense	possibly damaging	0.88
R8073:Dnajb12	UTSW	10	59,726,001 (GRCm39)	nonsense	probably null
R9235:Dnajb12	UTSW	10	59,728,799 (GRCm39)	missense	probably benign	0.31
X0022:Dnajb12	UTSW	10	59,728,798 (GRCm39)	missense	probably null	0.00
Z1088:Dnajb12	UTSW	10	59,725,876 (GRCm39)	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- GCTTTGTCCTCTGGGAAAGC -3'
(R):5'- AGTCACGCTTCTGAAATCGC -3'

Sequencing Primer
(F):5'- TCCTCTGGGAAAGCTGTCAGAG -3'
(R):5'- GCTTCTGAAATCGCGTAGGAC -3'

Posted On

2015-05-15