Mutagenetix > Incidental Mutation

Incidental Mutation 'R9526:Dnajc14'

719254

Institutional Source

Beutler Lab

Gene Symbol

Dnajc14

Ensembl Gene

ENSMUSG00000025354

Gene Name

DnaJ heat shock protein family (Hsp40) member C14

Synonyms

LIP6, 5730551F12Rik, HDJ3, DRIP78

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9526 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

128641423-128655317 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 128642260 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 61 (Y61N)

Ref Sequence

ENSEMBL: ENSMUSP00000026410 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026410] [ENSMUST00000051011] [ENSMUST00000139227] [ENSMUST00000217745] [ENSMUST00000218001] [ENSMUST00000218511] [ENSMUST00000219508]

AlphaFold

Q921R4

Predicted Effect

probably benign
Transcript: ENSMUST00000026410
AA Change: Y61N

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

SMART Domains

Protein: ENSMUSP00000026410
Gene: ENSMUSG00000025354
AA Change: Y61N

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: ENSMUST00000051011

SMART Domains

Protein: ENSMUSP00000050451
Gene: ENSMUSG00000047090

Domain	Start	End	E-Value	Type
Pfam:DUF4203	43	240	2.4e-47	PFAM
low complexity region	257	271	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000139227

SMART Domains

Protein: ENSMUSP00000118082
Gene: ENSMUSG00000047090

Domain	Start	End	E-Value	Type
Pfam:DUF4203	42	96	4.5e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000217745
AA Change: Y61N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000218001
AA Change: Y61N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000218511
AA Change: Y61N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000219508
AA Change: Y61N

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	A	G	12: 80,230,393 (GRCm39)	L287S	probably damaging	Het
Adgrf1	A	T	17: 43,616,237 (GRCm39)	Q292L	possibly damaging	Het
Arhgap32	A	G	9: 32,172,026 (GRCm39)	D1602G	probably benign	Het
Atrnl1	C	T	19: 57,617,551 (GRCm39)	P109S	probably damaging	Het
Camsap1	G	A	2: 25,843,962 (GRCm39)	H230Y	probably benign	Het
Capns1	C	T	7: 29,891,612 (GRCm39)	C144Y	probably damaging	Het
Ccdc17	G	A	4: 116,455,994 (GRCm39)	V341I	possibly damaging	Het
Cd36	T	C	5: 18,002,033 (GRCm39)	T323A	probably damaging	Het
Cdc14a	CGCTGCTGCTGCTGCTGCTG	CGCTGCTGCTGCTGCTG	3: 116,087,509 (GRCm39)		probably benign	Het
Ckap2l	G	A	2: 129,111,161 (GRCm39)	Q679*	probably null	Het
Clec4g	T	A	8: 3,768,565 (GRCm39)	N93I	probably benign	Het
Cntnap2	T	A	6: 45,992,165 (GRCm39)	L364Q	probably damaging	Het
Cul9	A	G	17: 46,841,026 (GRCm39)	M748T	probably benign	Het
Dnah11	A	T	12: 118,150,711 (GRCm39)	I349N	probably damaging	Het
Dock6	A	T	9: 21,713,802 (GRCm39)	Y1909*	probably null	Het
Dock8	T	A	19: 25,165,739 (GRCm39)	D1874E	probably benign	Het
Dpm1	A	G	2: 168,072,210 (GRCm39)	S22P	probably benign	Het
Dysf	T	C	6: 84,128,885 (GRCm39)	L1385P	probably damaging	Het
Egf	T	C	3: 129,491,421 (GRCm39)	T859A	probably benign	Het
Eif2b1	A	T	5: 124,711,867 (GRCm39)	S162T	probably benign	Het
Emilin1	T	C	5: 31,075,484 (GRCm39)	L575P	probably damaging	Het
Erp27	T	A	6: 136,886,550 (GRCm39)	Q161L	probably benign	Het
Fbxw10	C	A	11: 62,765,945 (GRCm39)	D738E	possibly damaging	Het
Fcgbp	T	G	7: 27,790,937 (GRCm39)	C733G	probably damaging	Het
Fgb	T	A	3: 82,957,122 (GRCm39)		probably benign	Het
Gata3os	A	T	2: 9,887,634 (GRCm39)	T12S	unknown	Het
Got1l1	G	T	8: 27,688,503 (GRCm39)	Q283K	probably benign	Het
Grk2	G	A	19: 4,340,871 (GRCm39)	R226C	probably damaging	Het
Hoxa10	T	C	6: 52,211,334 (GRCm39)	D194G	probably benign	Het
Ipcef1	G	A	10: 6,840,620 (GRCm39)	T363I	probably damaging	Het
Itga10	C	A	3: 96,564,273 (GRCm39)	T922N	probably damaging	Het
Itgad	T	C	7: 127,777,552 (GRCm39)	I144T	probably benign	Het
Kat6b	C	A	14: 21,567,564 (GRCm39)	Q208K	possibly damaging	Het
Kidins220	T	G	12: 25,088,383 (GRCm39)	L1042R	probably damaging	Het
Kmt2c	T	C	5: 25,486,355 (GRCm39)	S4733G	probably damaging	Het
Lrig3	A	G	10: 125,850,736 (GRCm39)	I1101V	probably benign	Het
Lrp1	T	A	10: 127,431,229 (GRCm39)	N311I	probably damaging	Het
Man2a1	A	T	17: 64,958,310 (GRCm39)	K275I	probably benign	Het
Map3k10	T	A	7: 27,364,434 (GRCm39)	N318I	probably damaging	Het
Map3k8	G	A	18: 4,333,869 (GRCm39)	R408W	probably damaging	Het
Mast1	A	G	8: 85,647,805 (GRCm39)	M523T	probably damaging	Het
Mast4	T	C	13: 102,873,593 (GRCm39)	H1925R	probably benign	Het
Med12l	C	T	3: 58,984,207 (GRCm39)	S461L	probably damaging	Het
Mfap1a	T	C	2: 121,333,237 (GRCm39)	K65E	probably damaging	Het
Mical1	T	C	10: 41,358,602 (GRCm39)	S507P	probably benign	Het
Miga2	T	C	2: 30,268,400 (GRCm39)	V433A	unknown	Het
Mpdz	T	C	4: 81,274,653 (GRCm39)	T848A	probably benign	Het
Mycn	A	G	12: 12,989,778 (GRCm39)	V206A	probably benign	Het
Ndst1	G	A	18: 60,838,220 (GRCm39)	Q342*	probably null	Het
Nectin1	A	G	9: 43,702,369 (GRCm39)	M39V	probably benign	Het
Nectin4	A	T	1: 171,210,209 (GRCm39)	R234*	probably null	Het
Ngb	C	G	12: 87,145,317 (GRCm39)	V113L	possibly damaging	Het
Nphp3	T	A	9: 103,913,337 (GRCm39)	Y990N	probably damaging	Het
Nrdc	T	C	4: 108,915,833 (GRCm39)		probably null	Het
Or10a2	A	T	7: 106,673,739 (GRCm39)	K235*	probably null	Het
Or1e23	T	A	11: 73,407,351 (GRCm39)	I225F	probably damaging	Het
Or5p60	T	A	7: 107,723,801 (GRCm39)	Y223F	probably benign	Het
Osbpl6	A	G	2: 76,415,603 (GRCm39)	Y655C	probably damaging	Het
Pcdhgb4	A	G	18: 37,855,882 (GRCm39)	Q759R	probably benign	Het
Pcsk4	T	C	10: 80,161,800 (GRCm39)	D164G	probably damaging	Het
Pde4d	T	A	13: 110,071,915 (GRCm39)	I303N	probably damaging	Het
Pdf	T	A	8: 107,774,972 (GRCm39)	M87L	probably benign	Het
Pigb	A	G	9: 72,941,840 (GRCm39)	S140P	probably damaging	Het
Plch1	T	A	3: 63,758,549 (GRCm39)		probably benign	Het
Plxna1	G	T	6: 89,319,633 (GRCm39)	D557E	probably benign	Het
Polr2e	C	T	10: 79,872,792 (GRCm39)	V149M	probably benign	Het
Polr3a	A	T	14: 24,503,313 (GRCm39)	C1174S	probably benign	Het
Prb1c	T	A	6: 132,338,891 (GRCm39)	N109I	unknown	Het
Psmd2	T	A	16: 20,474,369 (GRCm39)	S308R	probably benign	Het
Ptger1	T	A	8: 84,396,002 (GRCm39)	V353E	probably damaging	Het
Ptprc	A	G	1: 137,996,111 (GRCm39)	M940T	probably benign	Het
Pus7l	T	C	15: 94,425,781 (GRCm39)	N540S	probably damaging	Het
Rap1gds1	T	A	3: 138,756,317 (GRCm39)	I13L	probably benign	Het
Rasl10b	A	T	11: 83,303,590 (GRCm39)	N49I	probably damaging	Het
Rftn1	A	T	17: 50,301,237 (GRCm39)	N537K	probably benign	Het
Rnase4	A	G	14: 51,342,645 (GRCm39)	Y123C	probably damaging	Het
Rnf181	A	C	6: 72,338,302 (GRCm39)	N26K	probably benign	Het
Rnf31	G	A	14: 55,836,269 (GRCm39)		probably null	Het
Rpusd3	C	G	6: 113,393,200 (GRCm39)	C304S	unknown	Het
Rsf1	CGGC	CGGCGGCGGGGGC	7: 97,229,139 (GRCm39)		probably benign	Het
Ryr3	C	A	2: 112,664,270 (GRCm39)	V1694L	probably benign	Het
Sanbr	T	C	11: 23,559,098 (GRCm39)	Y372C	probably damaging	Het
Sephs2	T	C	7: 126,872,346 (GRCm39)	D249G	probably damaging	Het
Serpina10	A	G	12: 103,583,217 (GRCm39)	I409T	probably damaging	Het
Serpina5	C	T	12: 104,069,403 (GRCm39)	A205V	probably damaging	Het
Sfr1	T	A	19: 47,723,453 (GRCm39)	V319E	probably damaging	Het
Skil	T	A	3: 31,171,639 (GRCm39)	Y542N	probably benign	Het
Slc15a5	T	C	6: 138,049,954 (GRCm39)	T154A	probably benign	Het
Slc27a2	T	A	2: 126,429,846 (GRCm39)	L618Q	probably damaging	Het
Slc6a6	A	T	6: 91,726,808 (GRCm39)	Y483F	probably benign	Het
Sprr1b	T	C	3: 92,344,443 (GRCm39)	I144M	probably benign	Het
Stat5a	T	A	11: 100,771,161 (GRCm39)	V580E		Het
Tnk1	C	T	11: 69,746,011 (GRCm39)	D305N	probably damaging	Het
Tox2	A	G	2: 163,164,930 (GRCm39)	*523W	probably null	Het
Trav12-2	A	G	14: 53,854,085 (GRCm39)	N20D	probably benign	Het
Trav16	T	A	14: 53,981,046 (GRCm39)	N78K	probably damaging	Het
Trf	C	T	9: 103,104,130 (GRCm39)	A78T	probably damaging	Het
Ttn	A	G	2: 76,711,543 (GRCm39)		probably benign	Het
Vmn2r67	T	A	7: 84,785,834 (GRCm39)	M724L	probably benign	Het
Vmn2r94	A	T	17: 18,477,261 (GRCm39)	F383L	probably benign	Het
Vwa2	T	C	19: 56,895,208 (GRCm39)	S461P	probably benign	Het
Zfp991	G	A	4: 147,264,327 (GRCm39)	G568E	probably damaging	Het
Zfpl1	A	G	19: 6,134,440 (GRCm39)	F15S	probably damaging	Het

Other mutations in Dnajc14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00432:Dnajc14	APN	10	128,642,201 (GRCm39)	missense	probably damaging	1.00
IGL00924:Dnajc14	APN	10	128,653,188 (GRCm39)	missense	probably benign
IGL00943:Dnajc14	APN	10	128,652,675 (GRCm39)	missense	possibly damaging	0.92
IGL02833:Dnajc14	APN	10	128,642,468 (GRCm39)	missense	possibly damaging	0.94
IGL02799:Dnajc14	UTSW	10	128,642,725 (GRCm39)	missense	possibly damaging	0.88
PIT4812001:Dnajc14	UTSW	10	128,642,552 (GRCm39)	missense	probably damaging	0.96
R0054:Dnajc14	UTSW	10	128,643,448 (GRCm39)	missense	probably damaging	1.00
R0054:Dnajc14	UTSW	10	128,643,448 (GRCm39)	missense	probably damaging	1.00
R1932:Dnajc14	UTSW	10	128,652,661 (GRCm39)	missense	probably damaging	1.00
R4412:Dnajc14	UTSW	10	128,642,074 (GRCm39)	start gained	probably benign
R4717:Dnajc14	UTSW	10	128,642,113 (GRCm39)	missense	possibly damaging	0.92
R4804:Dnajc14	UTSW	10	128,649,926 (GRCm39)	missense	probably benign	0.06
R4870:Dnajc14	UTSW	10	128,653,219 (GRCm39)	missense	probably benign	0.00
R6323:Dnajc14	UTSW	10	128,643,359 (GRCm39)	missense	probably damaging	1.00
R6325:Dnajc14	UTSW	10	128,643,359 (GRCm39)	missense	probably damaging	1.00
R6399:Dnajc14	UTSW	10	128,643,359 (GRCm39)	missense	probably damaging	1.00
R6400:Dnajc14	UTSW	10	128,643,359 (GRCm39)	missense	probably damaging	1.00
R6452:Dnajc14	UTSW	10	128,643,359 (GRCm39)	missense	probably damaging	1.00
R6453:Dnajc14	UTSW	10	128,643,359 (GRCm39)	missense	probably damaging	1.00
R6556:Dnajc14	UTSW	10	128,650,500 (GRCm39)	missense	probably benign	0.42
R6847:Dnajc14	UTSW	10	128,652,656 (GRCm39)	missense	possibly damaging	0.61
R8692:Dnajc14	UTSW	10	128,642,900 (GRCm39)	missense	probably damaging	1.00
R8859:Dnajc14	UTSW	10	128,642,488 (GRCm39)	missense	probably benign
R9254:Dnajc14	UTSW	10	128,652,743 (GRCm39)	critical splice donor site	probably null
R9260:Dnajc14	UTSW	10	128,642,766 (GRCm39)	missense	possibly damaging	0.57
R9277:Dnajc14	UTSW	10	128,642,689 (GRCm39)	missense	probably benign
R9379:Dnajc14	UTSW	10	128,652,743 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TAAAATCCTCAGGAAGCCCGG -3'
(R):5'- CTGGCAGTTACAAGCAGATGG -3'

Sequencing Primer
(F):5'- GTCATGGCCCAGAAGCAC -3'
(R):5'- TGGAAAGAAAAGAAGGACTCCCATCC -3'

Posted On

2022-07-18