Mutagenetix > Incidental Mutation

Incidental Mutation 'R5234:Dnajc19'

398192

Institutional Source

Beutler Lab

Gene Symbol

Dnajc19

Ensembl Gene

ENSMUSG00000027679

Gene Name

DnaJ heat shock protein family (Hsp40) member C19

Synonyms

1810055D05Rik

MMRRC Submission

042806-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5234 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34111429-34135503 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34112108 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 146 (I146F)

Ref Sequence

ENSEMBL: ENSMUSP00000011029 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001620] [ENSMUST00000011029] [ENSMUST00000167354] [ENSMUST00000197694] [ENSMUST00000198051] [ENSMUST00000200086] [ENSMUST00000200392]

AlphaFold

Q9CQV7

Predicted Effect

probably benign
Transcript: ENSMUST00000001620

SMART Domains

Protein: ENSMUSP00000001620
Gene: ENSMUSG00000027680

Domain	Start	End	E-Value	Type
Pfam:Agenet	2	55	4.4e-7	PFAM
Pfam:Agenet	62	120	7.1e-10	PFAM
KH	217	284	3.57e-4	SMART
KH	286	356	1.22e-2	SMART
low complexity region	404	421	N/A	INTRINSIC
Pfam:FXR_C1	489	564	1.9e-41	PFAM
low complexity region	572	582	N/A	INTRINSIC
Pfam:FXR_C3	610	676	1.3e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000011029
AA Change: I146F

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000011029
Gene: ENSMUSG00000027679
AA Change: I146F

Domain	Start	End	E-Value	Type
transmembrane domain	4	23	N/A	INTRINSIC
DnaJ	61	101	1.31e-1	SMART
low complexity region	106	124	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000167354

SMART Domains

Protein: ENSMUSP00000130216
Gene: ENSMUSG00000027680

Domain	Start	End	E-Value	Type
Pfam:Agenet	59	120	3.3e-14	PFAM
KH	217	284	3.57e-4	SMART
KH	286	356	1.22e-2	SMART
Pfam:FXR1P_C	361	380	4.2e-9	PFAM
Pfam:FXR1P_C	379	486	1.5e-41	PFAM
low complexity region	502	510	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000197694

SMART Domains

Protein: ENSMUSP00000142441
Gene: ENSMUSG00000027680

Domain	Start	End	E-Value	Type
Pfam:Agenet	59	120	3.9e-14	PFAM
KH	217	284	3.57e-4	SMART
KH	286	356	1.22e-2	SMART
Pfam:FXR1P_C	361	380	5e-9	PFAM
Pfam:FXR1P_C	379	486	1.8e-41	PFAM
low complexity region	502	510	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000198051

SMART Domains

Protein: ENSMUSP00000142847
Gene: ENSMUSG00000027680

Domain	Start	End	E-Value	Type
Pfam:Agenet	59	120	1.2e-11	PFAM
KH	217	284	2.2e-6	SMART
KH	286	356	7.5e-5	SMART
Pfam:FXR1P_C	361	515	1.6e-64	PFAM
low complexity region	531	539	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198616

Predicted Effect

probably benign
Transcript: ENSMUST00000200086

SMART Domains

Protein: ENSMUSP00000143562
Gene: ENSMUSG00000027680

Domain	Start	End	E-Value	Type
PDB:3O8V\|A	2	40	1e-17	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000200392

SMART Domains

Protein: ENSMUSP00000143392
Gene: ENSMUSG00000027680

Domain	Start	End	E-Value	Type
Pfam:Agenet	59	120	3.3e-14	PFAM
KH	217	284	3.57e-4	SMART
KH	286	356	1.22e-2	SMART
Pfam:FXR1P_C	361	380	4.2e-9	PFAM
Pfam:FXR1P_C	379	486	1.5e-41	PFAM
low complexity region	502	510	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	G	A	1: 71,302,823 (GRCm39)	T2132M	probably damaging	Het
Abca8b	A	T	11: 109,867,420 (GRCm39)	F213I	possibly damaging	Het
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Adamts6	A	G	13: 104,630,130 (GRCm39)	Y1091C	probably damaging	Het
Adamtsl4	T	C	3: 95,588,230 (GRCm39)	M586V	probably benign	Het
Anapc4	T	C	5: 53,006,118 (GRCm39)	S336P	probably damaging	Het
Atp1a4	A	T	1: 172,054,737 (GRCm39)	I964K	possibly damaging	Het
Bcan	A	T	3: 87,903,453 (GRCm39)	D246E	probably damaging	Het
Ccnf	G	A	17: 24,453,411 (GRCm39)	R343*	probably null	Het
Col6a5	T	C	9: 105,741,404 (GRCm39)	H2505R	probably damaging	Het
Dlg5	T	A	14: 24,242,930 (GRCm39)	M72L	probably damaging	Het
Dnajc18	T	C	18: 35,816,351 (GRCm39)	T196A	probably benign	Het
Espnl	A	G	1: 91,272,515 (GRCm39)	D581G	probably benign	Het
Fam167a	T	C	14: 63,689,787 (GRCm39)	L28P	probably damaging	Het
Fra10ac1	T	C	19: 38,204,294 (GRCm39)	D94G	probably damaging	Het
Fut8	A	G	12: 77,379,004 (GRCm39)	H35R	probably benign	Het
Gad1-ps	T	A	10: 99,281,188 (GRCm39)		noncoding transcript	Het
Garin2	T	A	12: 78,762,045 (GRCm39)	Y236*	probably null	Het
Idh2	A	T	7: 79,745,853 (GRCm39)	V333E	probably damaging	Het
Inpp5f	A	G	7: 128,265,407 (GRCm39)	I121V	probably benign	Het
Itga1	A	T	13: 115,185,839 (GRCm39)	Y54*	probably null	Het
Lax1	A	G	1: 133,608,321 (GRCm39)	V140A	probably benign	Het
Ncoa6	A	G	2: 155,279,933 (GRCm39)	F28L	probably benign	Het
Or12e10	T	C	2: 87,641,112 (GRCm39)	V316A	probably benign	Het
Or1q1	T	C	2: 36,887,107 (GRCm39)	V95A	probably benign	Het
Polr2a	T	C	11: 69,627,666 (GRCm39)	I1414V	probably benign	Het
Ppp1r14b	A	G	19: 6,954,227 (GRCm39)	E115G	possibly damaging	Het
Prune2	A	G	19: 17,096,032 (GRCm39)	D512G	probably damaging	Het
Psmd11	A	G	11: 80,319,566 (GRCm39)	I19V	probably benign	Het
Pthlh	C	A	6: 147,158,592 (GRCm39)	G123W	probably damaging	Het
Qars1	T	A	9: 108,391,364 (GRCm39)	L572Q	probably damaging	Het
Rubcn	T	C	16: 32,656,828 (GRCm39)	I516V	probably damaging	Het
Sgsm3	A	T	15: 80,892,145 (GRCm39)	S238C	probably damaging	Het
Slc25a22	C	A	7: 141,014,116 (GRCm39)		probably benign	Het
Slc4a1	G	A	11: 102,252,209 (GRCm39)	R5W	probably benign	Het
Tie1	G	A	4: 118,339,959 (GRCm39)	T356I	probably benign	Het
Tnn	A	T	1: 159,972,569 (GRCm39)	H344Q	possibly damaging	Het
Tnrc6c	G	T	11: 117,651,555 (GRCm39)	V1693F	probably benign	Het
Topaz1	C	T	9: 122,619,258 (GRCm39)	T1285M	possibly damaging	Het
Trank1	A	T	9: 111,215,535 (GRCm39)	S1822C	probably damaging	Het
Ttll11	A	C	2: 35,830,745 (GRCm39)	Y209D	probably damaging	Het
Unc45a	C	G	7: 79,978,547 (GRCm39)	A634P	probably benign	Het
Vmn2r4	C	T	3: 64,305,878 (GRCm39)	V515I	possibly damaging	Het

Other mutations in Dnajc19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02071:Dnajc19	APN	3	34,132,914 (GRCm39)	missense	possibly damaging	0.81
FR4976:Dnajc19	UTSW	3	34,112,143 (GRCm39)	frame shift	probably null
IGL03134:Dnajc19	UTSW	3	34,132,884 (GRCm39)	intron	probably benign
R1344:Dnajc19	UTSW	3	34,112,161 (GRCm39)	missense	probably damaging	0.97
R1446:Dnajc19	UTSW	3	34,112,128 (GRCm39)	missense	probably benign	0.00
R3703:Dnajc19	UTSW	3	34,134,378 (GRCm39)	critical splice donor site	probably null
R3705:Dnajc19	UTSW	3	34,134,378 (GRCm39)	critical splice donor site	probably null
R8966:Dnajc19	UTSW	3	34,132,893 (GRCm39)	missense	unknown
R9041:Dnajc19	UTSW	3	34,134,282 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGCAAATGACCTTGTGAATACG -3'
(R):5'- GACGGTACTTTCATCAGTGGC -3'

Sequencing Primer
(F):5'- GACCTTGTGAATACGATTCTGC -3'
(R):5'- GACGGTACTTTCATCAGTGGCATATC -3'

Posted On

2016-07-06