Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4812001:Dnajc14'

556921

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT4812001 (G1)

Quality Score

141.008

Status

Not validated

Chromosome

Chromosomal Location

128641423-128655317 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 128642552 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 158 (T158N)

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 damaging
Transcript: ENSMUST00000026410
AA Change: T158N

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000026410
Gene: ENSMUSG00000025354
AA Change: T158N

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 damaging
Transcript: ENSMUST00000217745
AA Change: T158N

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000218001

Predicted Effect

probably damaging
Transcript: ENSMUST00000218511
AA Change: T158N

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000219508
AA Change: T158N

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

Coding Region Coverage

1x: 93.8%
3x: 91.0%
10x: 85.3%
20x: 73.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	C	18: 6,630,053 (GRCm39)	S252P	possibly damaging	Het
4933409G03Rik	G	A	2: 68,419,292 (GRCm39)	V14I	probably benign	Het
Adgrf5	T	G	17: 43,761,260 (GRCm39)	V985G	probably damaging	Het
Ankrd44	A	T	1: 54,762,197 (GRCm39)	Y542*	probably null	Het
Atp13a3	T	C	16: 30,181,396 (GRCm39)	T75A	probably damaging	Het
Atr	T	C	9: 95,792,702 (GRCm39)	F1675L	probably benign	Het
Atrnl1	A	G	19: 57,720,055 (GRCm39)	I1082V	probably benign	Het
Clip1	T	A	5: 123,768,738 (GRCm39)	R620S	probably benign	Het
Cped1	T	C	6: 22,122,293 (GRCm39)	F391S	probably benign	Het
Cracr2a	T	C	6: 127,602,833 (GRCm39)	L230P	probably damaging	Het
Dctn1	T	A	6: 83,176,744 (GRCm39)	V1266E	possibly damaging	Het
Dlg1	T	A	16: 31,665,703 (GRCm39)	F687I	probably benign	Het
Dnah8	C	A	17: 30,927,419 (GRCm39)	D1358E	probably benign	Het
Dnajc11	A	G	4: 152,037,346 (GRCm39)	R84G	probably benign	Het
Dscc1	A	G	15: 54,945,657 (GRCm39)	L346P	probably damaging	Het
Efcab3	A	G	11: 104,990,805 (GRCm39)	I71V	probably null	Het
Erbb3	T	A	10: 128,410,248 (GRCm39)	Q670L	possibly damaging	Het
Ercc4	G	A	16: 12,962,311 (GRCm39)	E652K	probably benign	Het
Ercc6l2	T	A	13: 64,006,071 (GRCm39)	V591D	possibly damaging	Het
Fam3c	C	T	6: 22,321,369 (GRCm39)	G134E	probably damaging	Het
Frmd5	A	G	2: 121,416,927 (GRCm39)	V70A	probably benign	Het
Gjd3	A	T	11: 102,691,807 (GRCm39)	Y65*	probably null	Het
Gm3033	A	C	14: 3,848,891 (GRCm38)	L137F		Het
Gria4	C	A	9: 4,427,128 (GRCm39)	A771S	probably damaging	Het
Hc	A	G	2: 34,919,464 (GRCm39)	L674P	probably benign	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,193,999 (GRCm39)		probably benign	Het
Hycc2	T	G	1: 58,587,862 (GRCm39)	D117A	possibly damaging	Het
Inpp5f	A	T	7: 128,294,032 (GRCm39)	Y696F	probably benign	Het
Itga11	C	A	9: 62,639,475 (GRCm39)	Q157K	probably damaging	Het
Itgb5	G	T	16: 33,740,357 (GRCm39)	C489F	probably damaging	Het
Klhl38	C	T	15: 58,185,938 (GRCm39)	G264S	probably benign	Het
Krt78	C	T	15: 101,856,504 (GRCm39)	V436M	probably damaging	Het
Mia2	A	T	12: 59,148,365 (GRCm39)	D75V	possibly damaging	Het
Mphosph6	T	A	8: 118,525,888 (GRCm39)	Q20L	probably damaging	Het
Ogfr	C	T	2: 180,237,304 (GRCm39)	P630S	possibly damaging	Het
Or2c1	A	T	16: 3,657,394 (GRCm39)	K186*	probably null	Het
Or4c11	G	A	2: 88,695,314 (GRCm39)	V122M	probably benign	Het
Or5an9	T	G	19: 12,187,617 (GRCm39)	I229S	probably damaging	Het
Pbx3	T	C	2: 34,114,631 (GRCm39)	E101G	probably damaging	Het
Pcca	T	A	14: 123,027,794 (GRCm39)	N587K	probably benign	Het
Pdia3	G	T	2: 121,264,011 (GRCm39)	A287S	probably damaging	Het
Pfas	T	A	11: 68,880,862 (GRCm39)	D209V		Het
Pramel29	A	G	4: 143,936,086 (GRCm39)	I56T	probably benign	Het
Pter	A	T	2: 12,985,179 (GRCm39)	I170F	probably damaging	Het
Ptprq	A	T	10: 107,502,428 (GRCm39)	V830E	probably damaging	Het
Rab11fip5	T	C	6: 85,318,540 (GRCm39)	D783G	probably benign	Het
Rbm19	T	C	5: 120,266,315 (GRCm39)	V446A	possibly damaging	Het
Selp	A	G	1: 163,959,832 (GRCm39)	N363D	probably benign	Het
Six2	C	A	17: 85,992,729 (GRCm39)	S258I	possibly damaging	Het
Smc1b	A	G	15: 84,953,852 (GRCm39)	V1139A	possibly damaging	Het
Sp1	A	G	15: 102,316,843 (GRCm39)	T121A	possibly damaging	Het
Sucla2	A	T	14: 73,816,889 (GRCm39)	I210L	possibly damaging	Het
Trank1	T	C	9: 111,176,980 (GRCm39)	L339P	probably damaging	Het
Ttll5	T	A	12: 85,973,635 (GRCm39)	D794E	probably benign	Het
Usp32	C	T	11: 84,900,900 (GRCm39)	V1107I	probably damaging	Het
Vmn1r195	T	C	13: 22,463,033 (GRCm39)	Y168H	probably benign	Het
Vmn1r223	A	G	13: 23,434,060 (GRCm39)	N218S	probably damaging	Het
Vmn2r25	T	A	6: 123,800,447 (GRCm39)	S632C	probably damaging	Het
Vwa3a	A	T	7: 120,375,356 (GRCm39)	K390I	probably damaging	Het
Zfp442	A	T	2: 150,251,661 (GRCm39)	C80*	probably null	Het
Zic1	A	T	9: 91,246,394 (GRCm39)	I226N	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
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
R9526:Dnajc14	UTSW	10	128,642,260 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGTGGACCAGGAACTCTCAAG -3'
(R):5'- CAGAAGCCTGCTTGTCCAAG -3'

Sequencing Primer
(F):5'- CTCAAGAGAGAATGAGACTGGGTAC -3'
(R):5'- TGTCCAAGCTGACATAGTTCC -3'

Posted On

2019-06-07