Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4382001:Dnajb12'

554696

Institutional Source

Beutler Lab

Gene Symbol

Dnajb12

Ensembl Gene

ENSMUSG00000020109

Gene Name

DnaJ heat shock protein family (Hsp40) member B12

Synonyms

mDj10

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

PIT4382001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59879556-59899302 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59892686 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 159 (Y159H)

Ref Sequence

ENSEMBL: ENSMUSP00000116577 (fasta)

Gene Model

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

AlphaFold

Q9QYI4

Predicted Effect

probably damaging
Transcript: ENSMUST00000020309
AA Change: Y159H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020309
Gene: ENSMUSG00000020109
AA Change: Y159H

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

unknown
Transcript: ENSMUST00000131810
AA Change: V110A

SMART Domains

Protein: ENSMUSP00000116244
Gene: ENSMUSG00000020109
AA Change: V110A

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 damaging
Transcript: ENSMUST00000142819
AA Change: Y159H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118088
Gene: ENSMUSG00000020109
AA Change: Y159H

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 damaging
Transcript: ENSMUST00000146590
AA Change: Y159H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000122056
Gene: ENSMUSG00000020109
AA Change: Y159H

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 damaging
Transcript: ENSMUST00000147914
AA Change: Y159H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000116577
Gene: ENSMUSG00000020109
AA Change: Y159H

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: 92.9%
3x: 90.5%
10x: 84.6%
20x: 72.3%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430038I01Rik	G	T	7: 137,376,982	H144N	unknown	Het
Acsm4	C	T	7: 119,698,575	T145M	probably damaging	Het
Adam10	T	C	9: 70,766,081	L498P	probably damaging	Het
Adgrl2	A	G	3: 148,817,298	L430P		Het
Alk	T	C	17: 71,949,921	M648V	probably benign	Het
Arhgap35	T	C	7: 16,563,869	R424G	possibly damaging	Het
Baiap2l1	T	C	5: 144,278,670	K342E	possibly damaging	Het
Ccdc54	C	T	16: 50,590,856	V16M	probably damaging	Het
Chil3	T	G	3: 106,148,659	D366A	probably damaging	Het
Chuk	A	G	19: 44,098,607	V151A	probably damaging	Het
Cpd	T	G	11: 76,797,788	H886P	probably benign	Het
Cped1	T	A	6: 22,222,450	C736*	probably null	Het
Creb3l3	T	C	10: 81,084,912	E428G	probably benign	Het
Csad	G	A	15: 102,188,650	L7F	probably benign	Het
Dnah1	C	T	14: 31,284,455	D2255N	probably damaging	Het
Dpysl4	T	A	7: 139,089,578	Y57*	probably null	Het
F2rl1	T	G	13: 95,513,646	N243H	probably benign	Het
Fhl4	T	C	10: 85,098,429	K163E	possibly damaging	Het
Flot2	T	C	11: 78,053,367	S46P	possibly damaging	Het
Fsip2	C	A	2: 82,990,852	T5643K	possibly damaging	Het
Gm853	A	T	4: 130,219,161	N147K	possibly damaging	Het
Gm8765	A	T	13: 50,700,971	E215V	probably damaging	Het
Golga4	T	A	9: 118,553,453	Y542N	possibly damaging	Het
Il17re	A	G	6: 113,469,077	T426A	probably benign	Het
Kdm2a	T	A	19: 4,343,173	M385L	probably benign	Het
Kdm3b	T	C	18: 34,809,087	S744P	probably damaging	Het
Krtap6-3	T	A	16: 89,084,160	Y26*	probably null	Het
Lama2	T	C	10: 27,204,905	D974G	probably damaging	Het
Lipo5	A	T	19: 33,465,939	L159Q	probably null	Het
Mau2	C	T	8: 70,030,652	E187K	possibly damaging	Het
Mrpl9	T	C	3: 94,447,829	L236P	probably benign	Het
Mta1	A	G	12: 113,133,250	T564A	probably benign	Het
Mylk	C	T	16: 34,875,642	S249L	probably damaging	Het
Ncor1	G	T	11: 62,344,663	T331K	probably damaging	Het
Nsun3	T	A	16: 62,785,865	K15N	probably damaging	Het
Nsun5	A	G	5: 135,371,501	Y132C	probably benign	Het
Obsl1	T	A	1: 75,487,963	T1605S	probably benign	Het
Olfr1463	T	C	19: 13,234,895	I215T	probably damaging	Het
Olfr519	A	G	7: 108,894,102	Y107H	probably damaging	Het
Olfr566	A	G	7: 102,856,602	Y227H	probably damaging	Het
Olfr574	A	T	7: 102,949,449	Y328F	probably benign	Het
Oraov1	T	A	7: 144,916,444	Y37N	probably damaging	Het
P2rx1	A	G	11: 73,009,200	N148D	probably benign	Het
Pogz	T	A	3: 94,879,796	S1232T	probably damaging	Het
Polr3b	C	A	10: 84,684,185	T655N	probably damaging	Het
Prss34	T	C	17: 25,298,908		probably null	Het
Rhpn2	A	G	7: 35,390,753		probably null	Het
Runx1	T	A	16: 92,613,760	D256V	probably damaging	Het
Shc1	C	A	3: 89,427,408	Q525K	probably benign	Het
Slc10a5	T	C	3: 10,335,447	D51G	probably benign	Het
Slc6a3	A	T	13: 73,571,523	N557I	probably benign	Het
Slmap	C	T	14: 26,533,431	R32H	probably damaging	Het
Spata31d1c	T	C	13: 65,036,171	I509T	probably benign	Het
Srr	C	A	11: 74,910,308	V138F	probably benign	Het
Tas2r118	G	A	6: 23,969,786	T92I	possibly damaging	Het
Tcaf2	A	T	6: 42,624,366	*920K	probably null	Het
Tenm2	T	A	11: 36,063,902	Y1141F	probably damaging	Het
Thoc6	T	C	17: 23,668,867	N322S	probably benign	Het
Tlcd2	A	G	11: 75,468,591	I70V	probably benign	Het
Tmem214	A	G	5: 30,871,451	D128G	possibly damaging	Het
Trav13-4-dv7	T	C	14: 53,757,781	V64A	probably benign	Het
Tyro3	T	C	2: 119,802,364	W122R	probably damaging	Het
Ugcg	A	G	4: 59,213,246	D144G	possibly damaging	Het
Uimc1	T	C	13: 55,031,015	D627G	probably benign	Het
Utp6	T	C	11: 79,962,273	I13V	probably benign	Het
Vmn2r99	A	G	17: 19,394,343	K775R	probably damaging	Het
Wdfy3	CG	C	5: 101,882,961		probably null	Het
Zw10	C	T	9: 49,071,644	T525I	probably benign	Het

Other mutations in Dnajb12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02616:Dnajb12	APN	10	59892863	splice site	probably null
IGL03412:Dnajb12	APN	10	59890073	missense	probably benign	0.44
R0496:Dnajb12	UTSW	10	59879801	nonsense	probably null
R1692:Dnajb12	UTSW	10	59896377	missense	probably damaging	1.00
R2087:Dnajb12	UTSW	10	59890845	missense	possibly damaging	0.82
R2276:Dnajb12	UTSW	10	59892977	missense	probably benign	0.31
R4110:Dnajb12	UTSW	10	59894314	missense	possibly damaging	0.78
R4113:Dnajb12	UTSW	10	59894314	missense	possibly damaging	0.78
R4365:Dnajb12	UTSW	10	59879766	missense	probably damaging	1.00
R4382:Dnajb12	UTSW	10	59897499	missense	probably benign
R4757:Dnajb12	UTSW	10	59892770	missense	probably benign
R5156:Dnajb12	UTSW	10	59892960	missense	probably damaging	1.00
R5455:Dnajb12	UTSW	10	59892752	frame shift	probably null
R5484:Dnajb12	UTSW	10	59892752	frame shift	probably null
R5486:Dnajb12	UTSW	10	59892752	frame shift	probably null
R5487:Dnajb12	UTSW	10	59892752	frame shift	probably null
R5504:Dnajb12	UTSW	10	59892752	frame shift	probably null
R5506:Dnajb12	UTSW	10	59892752	frame shift	probably null
R5507:Dnajb12	UTSW	10	59892752	frame shift	probably null
R5560:Dnajb12	UTSW	10	59892752	frame shift	probably null
R5561:Dnajb12	UTSW	10	59892752	frame shift	probably null
R5601:Dnajb12	UTSW	10	59892752	frame shift	probably null
R5603:Dnajb12	UTSW	10	59892752	frame shift	probably null
R5604:Dnajb12	UTSW	10	59892752	frame shift	probably null
R6013:Dnajb12	UTSW	10	59894341	critical splice donor site	probably null
R6724:Dnajb12	UTSW	10	59892780	missense	possibly damaging	0.92
R6935:Dnajb12	UTSW	10	59896503	critical splice donor site	probably null
R8044:Dnajb12	UTSW	10	59896350	missense	possibly damaging	0.88
R8073:Dnajb12	UTSW	10	59890179	nonsense	probably null
R9235:Dnajb12	UTSW	10	59892977	missense	probably benign	0.31
X0022:Dnajb12	UTSW	10	59892976	missense	probably null	0.00
Z1088:Dnajb12	UTSW	10	59890054	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- CTGGACCATTCTGGCAGTTTCAG -3'
(R):5'- TTACTGGAAGGAAAGCCGCC -3'

Sequencing Primer
(F):5'- ACCATTCTGGCAGTTTCAGTTTAG -3'
(R):5'- CACCAAAGAACATGTTAAAGAGGTC -3'

Posted On

2019-06-07