Mutagenetix > Incidental Mutations

Incidental Mutation 'R6556:Dnajc14'

522185

Institutional Source

Beutler Lab

Gene Symbol

Dnajc14

Ensembl Gene

ENSMUSG00000025354

Gene Name

DnaJ heat shock protein family (Hsp40) member C14

Synonyms

DRIP78, LIP6, HDJ3, 5730551F12Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6556 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

128804062-128819446 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 128814631 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 528 (D528G)

Ref Sequence

ENSEMBL: ENSMUSP00000151343 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026409] [ENSMUST00000026410] [ENSMUST00000217685] [ENSMUST00000217745] [ENSMUST00000219215] [ENSMUST00000219508] [ENSMUST00000219524]

AlphaFold

Q921R4

Predicted Effect

probably benign
Transcript: ENSMUST00000026409

SMART Domains

Protein: ENSMUSP00000026409
Gene: ENSMUSG00000025353

Domain	Start	End	E-Value	Type
Pfam:ORMDL	11	146	4.4e-57	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000026410
AA Change: D528G

PolyPhen 2 Score 0.417 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000026410
Gene: ENSMUSG00000025354
AA Change: D528G

Domain	Start	End	E-Value	Type
low complexity region	17	28	N/A	INTRINSIC
low complexity region	76	90	N/A	INTRINSIC
low complexity region	164	176	N/A	INTRINSIC
transmembrane domain	300	322	N/A	INTRINSIC
transmembrane domain	327	349	N/A	INTRINSIC
DnaJ	443	500	1.3e-21	SMART
Pfam:Jiv90	532	621	5.9e-40	PFAM
low complexity region	690	700	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000217685

Predicted Effect

probably benign
Transcript: ENSMUST00000217745
AA Change: D528G

PolyPhen 2 Score 0.417 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218622

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218765

Predicted Effect

probably benign
Transcript: ENSMUST00000219215

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219473

Predicted Effect

probably benign
Transcript: ENSMUST00000219508
AA Change: D528G

PolyPhen 2 Score 0.417 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000219524

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029P11Rik	A	G	15: 81,980,738	D60G	probably damaging	Het
2310035C23Rik	T	A	1: 105,726,440	F845I	probably damaging	Het
4930539E08Rik	T	A	17: 28,904,611	D114V	probably damaging	Het
AF366264	G	A	8: 13,837,690	Q134*	probably null	Het
Atp2a1	G	T	7: 126,450,262	P536Q	probably benign	Het
Cabyr	T	A	18: 12,751,016	S187T	probably benign	Het
Camkk1	A	T	11: 73,033,870	N303I	probably benign	Het
Cdh13	C	T	8: 118,968,187	P259S	probably damaging	Het
Csnk1g3	A	G	18: 53,930,282	D255G	possibly damaging	Het
Dennd5b	A	C	6: 149,014,251		probably null	Het
Edem1	T	C	6: 108,854,357	F593S	probably benign	Het
Erbb2	G	A	11: 98,436,082	D1106N	possibly damaging	Het
Ermp1	T	C	19: 29,612,921	M794V	possibly damaging	Het
Fam208a	T	G	14: 27,429,258	Y64D	probably benign	Het
Fam214b	C	T	4: 43,033,896	R460H	probably damaging	Het
Fip1l1	T	A	5: 74,547,177		probably null	Het
Gm11639	A	G	11: 105,008,251	N4343S	probably null	Het
Gm20730	C	T	6: 43,081,542	C112Y	probably damaging	Het
Gtf2h1	T	A	7: 46,808,665	C245S	probably damaging	Het
Hdhd5	T	C	6: 120,523,554	H61R	probably benign	Het
Ighv1-71	A	T	12: 115,742,472	V31E	probably damaging	Het
Igsf9b	T	C	9: 27,329,555	F688S	probably damaging	Het
Iqcd	T	C	5: 120,602,378	V258A	probably damaging	Het
Kcnc2	G	C	10: 112,271,856	G51R	probably benign	Het
Lpo	G	T	11: 87,817,763	Y136*	probably null	Het
Med30	A	G	15: 52,730,383		probably benign	Het
Mertk	T	A	2: 128,776,421	V524D	probably benign	Het
Olfr1156	T	C	2: 87,949,976	I86V	probably benign	Het
Olfr1261	T	A	2: 89,994,173	F260Y	probably benign	Het
Olfr1263	T	C	2: 90,015,094	Y55H	probably damaging	Het
Pde6b	T	A	5: 108,421,501	M358K	possibly damaging	Het
Prep	GA	G	10: 45,158,314		probably null	Het
Prpf4b	G	A	13: 34,896,032	R793Q	probably damaging	Het
Rela	T	A	19: 5,647,338	N524K	probably damaging	Het
Rnaset2a	T	C	17: 8,141,648	D74G	probably damaging	Het
Serinc2	T	A	4: 130,258,271	I267F	probably damaging	Het
Sesn3	T	C	9: 14,321,253	F274S	possibly damaging	Het
Spag1	T	C	15: 36,195,407	Y249H	probably damaging	Het
Sstr1	A	T	12: 58,213,692	D367V	possibly damaging	Het
Tnnt1	T	C	7: 4,509,577	E110G	probably damaging	Het
Tpm1	T	A	9: 67,028,169		probably null	Het
Unc93b1	T	C	19: 3,944,105	V412A	probably benign	Het
Uox	G	C	3: 146,624,648		probably null	Het
Usp44	T	C	10: 93,846,008	Y107H	probably benign	Het

Other mutations in Dnajc14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00432:Dnajc14	APN	10	128806332	missense	probably damaging	1.00
IGL00924:Dnajc14	APN	10	128817319	missense	probably benign
IGL00943:Dnajc14	APN	10	128816806	missense	possibly damaging	0.92
IGL02833:Dnajc14	APN	10	128806599	missense	possibly damaging	0.94
IGL02799:Dnajc14	UTSW	10	128806856	missense	possibly damaging	0.88
PIT4812001:Dnajc14	UTSW	10	128806683	missense	probably damaging	0.96
R0054:Dnajc14	UTSW	10	128807579	missense	probably damaging	1.00
R0054:Dnajc14	UTSW	10	128807579	missense	probably damaging	1.00
R1932:Dnajc14	UTSW	10	128816792	missense	probably damaging	1.00
R4412:Dnajc14	UTSW	10	128806205	start gained	probably benign
R4717:Dnajc14	UTSW	10	128806244	missense	possibly damaging	0.92
R4804:Dnajc14	UTSW	10	128814057	missense	probably benign	0.06
R4870:Dnajc14	UTSW	10	128817350	missense	probably benign	0.00
R6323:Dnajc14	UTSW	10	128807490	missense	probably damaging	1.00
R6325:Dnajc14	UTSW	10	128807490	missense	probably damaging	1.00
R6399:Dnajc14	UTSW	10	128807490	missense	probably damaging	1.00
R6400:Dnajc14	UTSW	10	128807490	missense	probably damaging	1.00
R6452:Dnajc14	UTSW	10	128807490	missense	probably damaging	1.00
R6453:Dnajc14	UTSW	10	128807490	missense	probably damaging	1.00
R6847:Dnajc14	UTSW	10	128816787	missense	possibly damaging	0.61
R8692:Dnajc14	UTSW	10	128807031	missense	probably damaging	1.00
R8859:Dnajc14	UTSW	10	128806619	missense	probably benign
R9254:Dnajc14	UTSW	10	128816874	critical splice donor site	probably null
R9260:Dnajc14	UTSW	10	128806897	missense	possibly damaging	0.57
R9277:Dnajc14	UTSW	10	128806820	missense	probably benign
R9379:Dnajc14	UTSW	10	128816874	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AATCCTCTATTGGAAGGTCTTGTGG -3'
(R):5'- GTAGAAACCTTGGGAGTCAGTC -3'

Sequencing Primer
(F):5'- CAAGGGTTGACTATCAGATATCCTGC -3'
(R):5'- AAACCTTGGGAGTCAGTCTGTACTC -3'

Posted On

2018-06-06