Mutagenetix > Incidental Mutation

Incidental Mutation 'R4757:Dnajb12'

358256

Institutional Source

Beutler Lab

Gene Symbol

Dnajb12

Ensembl Gene

ENSMUSG00000020109

Gene Name

DnaJ heat shock protein family (Hsp40) member B12

Synonyms

mDj10

MMRRC Submission

041973-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R4757 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59715405-59735118 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59728592 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 187 (S187G)

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: S187G

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

SMART Domains

Protein: ENSMUSP00000020309
Gene: ENSMUSG00000020109
AA Change: S187G

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: S187G

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

SMART Domains

Protein: ENSMUSP00000118088
Gene: ENSMUSG00000020109
AA Change: S187G

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: S187G

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

SMART Domains

Protein: ENSMUSP00000122056
Gene: ENSMUSG00000020109
AA Change: S187G

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: ENSMUST00000147914
AA Change: S187G

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

SMART Domains

Protein: ENSMUSP00000116577
Gene: ENSMUSG00000020109
AA Change: S187G

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	A	T	9: 53,336,830 (GRCm39)	M45L	probably benign	Het
Abcb1a	T	A	5: 8,787,632 (GRCm39)	V978D	probably damaging	Het
Acsm4	T	C	7: 119,297,900 (GRCm39)	V179A	probably benign	Het
Agtr1a	C	A	13: 30,565,842 (GRCm39)	Y302*	probably null	Het
Akap9	T	C	5: 4,058,382 (GRCm39)	I1677T	probably damaging	Het
Ankk1	T	A	9: 49,327,230 (GRCm39)	M650L	probably benign	Het
Apod	T	A	16: 31,122,280 (GRCm39)	N65Y	probably damaging	Het
Bcl2l1	T	A	2: 152,624,178 (GRCm39)	N197Y	possibly damaging	Het
Brpf1	A	T	6: 113,292,072 (GRCm39)	I373F	probably damaging	Het
Car13	T	C	3: 14,726,615 (GRCm39)	V257A	probably damaging	Het
Ccdc150	A	T	1: 54,317,874 (GRCm39)	H271L	possibly damaging	Het
Cit	T	A	5: 116,135,608 (GRCm39)	I1836N	probably damaging	Het
Clec12b	A	G	6: 129,357,655 (GRCm39)	S68P	probably damaging	Het
Col4a4	A	G	1: 82,506,187 (GRCm39)	F298L	unknown	Het
Crct1	G	A	3: 92,922,093 (GRCm39)	Q15*	probably null	Het
Creld1	A	G	6: 113,469,208 (GRCm39)	E346G	probably benign	Het
Ctnnal1	T	A	4: 56,847,980 (GRCm39)	H53L	probably damaging	Het
Cyb5d1	T	C	11: 69,285,814 (GRCm39)	D74G	probably damaging	Het
Deptor	A	T	15: 55,075,674 (GRCm39)	S293C	probably damaging	Het
Duoxa2	G	T	2: 122,131,072 (GRCm39)	V78L	possibly damaging	Het
Fem1al	A	T	11: 29,775,454 (GRCm39)	M1K	probably null	Het
Fhod1	C	A	8: 106,074,443 (GRCm39)		probably benign	Het
Foxf2	C	T	13: 31,810,172 (GRCm39)	P37L	unknown	Het
Gabbr2	T	C	4: 46,875,675 (GRCm39)	N149S	probably damaging	Het
Gckr	G	T	5: 31,464,728 (GRCm39)	M344I	possibly damaging	Het
Herc6	G	A	6: 57,577,045 (GRCm39)		probably null	Het
Igf1	A	T	10: 87,751,287 (GRCm39)	E161V	probably benign	Het
Ighv8-13	T	A	12: 115,729,268 (GRCm39)		probably benign	Het
Igkv6-14	A	T	6: 70,412,426 (GRCm39)	L12*	probably null	Het
Kpnb1	C	T	11: 97,068,160 (GRCm39)	S270N	possibly damaging	Het
Lingo1	A	G	9: 56,527,209 (GRCm39)	V460A	probably benign	Het
Lsm6	T	C	8: 79,539,711 (GRCm39)		probably null	Het
Mccc1	C	T	3: 36,050,066 (GRCm39)	G42E	probably benign	Het
Mga	A	G	2: 119,734,120 (GRCm39)	K323E	possibly damaging	Het
Mks1	A	G	11: 87,753,850 (GRCm39)	*562W	probably null	Het
Mrgpra4	T	A	7: 47,630,686 (GRCm39)	E305V	probably damaging	Het
Msh4	T	A	3: 153,585,024 (GRCm39)	H360L	probably damaging	Het
Mthfsd	C	T	8: 121,825,737 (GRCm39)		probably null	Het
Myl12a	A	T	17: 71,303,798 (GRCm39)	F26L	possibly damaging	Het
Nedd4l	A	G	18: 65,298,676 (GRCm39)	S343G	probably damaging	Het
Nlgn1	T	A	3: 25,490,332 (GRCm39)	D465V	probably damaging	Het
Nlgn1	C	T	3: 25,490,507 (GRCm39)	V407I	possibly damaging	Het
Npsr1	T	C	9: 24,046,064 (GRCm39)	V61A	probably benign	Het
Nrxn2	A	G	19: 6,559,851 (GRCm39)	D160G	probably damaging	Het
Or2p2	T	C	13: 21,256,715 (GRCm39)	Y252C	probably damaging	Het
Or52d3	T	C	7: 104,229,404 (GRCm39)	Y184H	possibly damaging	Het
Or5b107	A	C	19: 13,143,277 (GRCm39)	S300R	probably benign	Het
Or5b113	G	T	19: 13,342,810 (GRCm39)	A273S	probably benign	Het
Or9g4	A	G	2: 85,504,664 (GRCm39)	F277S	probably damaging	Het
Pbx1	C	A	1: 168,023,450 (GRCm39)	R235L	probably damaging	Het
Pcnx4	T	C	12: 72,603,067 (GRCm39)	V443A	probably benign	Het
Pde7b	T	C	10: 20,423,688 (GRCm39)	T63A	probably benign	Het
Phf3	C	T	1: 30,859,908 (GRCm39)	G873D	probably damaging	Het
Phox2b	A	T	5: 67,256,197 (GRCm39)	Y30N	probably damaging	Het
Plch2	T	A	4: 155,080,690 (GRCm39)	I599F	possibly damaging	Het
Plekha8	A	G	6: 54,599,213 (GRCm39)	E249G	probably benign	Het
Pou2af1	T	A	9: 51,144,439 (GRCm39)	Y118N	possibly damaging	Het
Ppp3cc	T	A	14: 70,455,635 (GRCm39)	K489N	possibly damaging	Het
Sema4b	T	C	7: 79,866,577 (GRCm39)	L219P	probably damaging	Het
Slc6a5	T	G	7: 49,609,030 (GRCm39)	V745G	probably benign	Het
Slf2	A	G	19: 44,923,497 (GRCm39)	M104V	probably benign	Het
Slx1b	A	G	7: 126,291,701 (GRCm39)	V121A	probably benign	Het
Speer4e2	T	A	5: 15,026,222 (GRCm39)	H145L	probably benign	Het
Spen	T	A	4: 141,200,390 (GRCm39)	K2746*	probably null	Het
Stxbp5l	T	C	16: 37,008,996 (GRCm39)	Y681C	probably damaging	Het
Sv2b	T	C	7: 74,773,918 (GRCm39)	T518A	probably benign	Het
Tgm7	A	T	2: 120,926,870 (GRCm39)	H426Q	possibly damaging	Het
Tlx2	A	G	6: 83,046,900 (GRCm39)	F54S	probably benign	Het
Trp53bp2	A	T	1: 182,286,339 (GRCm39)	M1060L	probably benign	Het
Trpv5	T	A	6: 41,630,148 (GRCm39)	E647D	probably damaging	Het
Tut1	G	T	19: 8,936,672 (GRCm39)	K165N	possibly damaging	Het
Tyro3	A	G	2: 119,641,419 (GRCm39)	K543E	probably damaging	Het
Vmn2r69	T	A	7: 85,061,575 (GRCm39)	Y133F	probably damaging	Het
Zfhx4	T	A	3: 5,465,122 (GRCm39)	V1785D	possibly damaging	Het
Zfp451	A	G	1: 33,804,939 (GRCm39)	L1037P	probably damaging	Het
Zscan29	A	T	2: 120,991,392 (GRCm39)	F799I	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
R4110:Dnajb12	UTSW	10	59,730,136 (GRCm39)	missense	possibly damaging	0.78
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
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'- TAGAGGTGCTCTGGATTGCC -3'
(R):5'- TTGCTGTAGACATGAACGTTACC -3'

Sequencing Primer
(F):5'- TCTGGATTGCCTGCCCAACAG -3'
(R):5'- CATGAACGTTACCTGAAACATGG -3'

Posted On

2015-11-11