Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01743:Dnajb14'

152946

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dnajb14

Ensembl Gene

ENSMUSG00000074212

Gene Name

DnaJ heat shock protein family (Hsp40) member B14

Synonyms

5730496F10Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.382) question?

Stock #

IGL01743

Quality Score

Status

Chromosome

Chromosomal Location

137572801-137619350 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 137611761 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 320 (V320L)

Ref Sequence

ENSEMBL: ENSMUSP00000087641 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090178] [ENSMUST00000197711]

AlphaFold

Q149L6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090178
AA Change: V320L

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000087641
Gene: ENSMUSG00000074212
AA Change: V320L

Domain	Start	End	E-Value	Type
DnaJ	107	164	3.8e-28	SMART
low complexity region	226	242	N/A	INTRINSIC
Pfam:DUF1977	265	371	1.1e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000118147

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195903

Predicted Effect

probably benign
Transcript: ENSMUST00000197711

SMART Domains

Protein: ENSMUSP00000143194
Gene: ENSMUSG00000074212

Domain	Start	End	E-Value	Type
DnaJ	57	114	2.4e-30	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	A	T	7: 45,646,238 (GRCm39)	N750K	probably benign	Het
Ackr2	T	C	9: 121,738,566 (GRCm39)	C314R	probably benign	Het
Adar	C	T	3: 89,652,747 (GRCm39)	Q210*	probably null	Het
Aifm1	A	G	X: 47,569,153 (GRCm39)		probably benign	Het
Aldoa	G	T	7: 126,395,875 (GRCm39)	D198E	probably damaging	Het
Ampd1	T	A	3: 103,002,201 (GRCm39)		probably benign	Het
Arhgef18	G	T	8: 3,414,697 (GRCm39)	C25F	probably benign	Het
Btnl1	T	C	17: 34,604,659 (GRCm39)	I480T	probably damaging	Het
Capn9	T	C	8: 125,318,508 (GRCm39)	S125P	probably benign	Het
Cd40lg	T	A	X: 56,257,592 (GRCm39)	Y26*	probably null	Het
Cdc42bpg	G	T	19: 6,359,853 (GRCm39)		probably null	Het
Cdh10	T	C	15: 18,986,855 (GRCm39)	L362P	probably benign	Het
Dhx16	A	G	17: 36,199,000 (GRCm39)	D782G	probably damaging	Het
Dpy19l1	C	T	9: 24,396,365 (GRCm39)	R117Q	probably damaging	Het
Ercc6	T	C	14: 32,274,561 (GRCm39)	V568A	probably damaging	Het
Faf2	T	C	13: 54,789,311 (GRCm39)		probably null	Het
Fbrsl1	C	T	5: 110,529,506 (GRCm39)	V223M	probably damaging	Het
Fcrl5	T	C	3: 87,351,598 (GRCm39)	V282A	probably damaging	Het
Fxr2	C	T	11: 69,543,448 (GRCm39)	L650F	possibly damaging	Het
Gabrq	A	G	X: 71,880,448 (GRCm39)	M314V	probably benign	Het
Gnas	T	A	2: 174,140,125 (GRCm39)	Y157*	probably null	Het
Gtf2i	T	C	5: 134,315,747 (GRCm39)	E175G	probably damaging	Het
Gtf3c1	A	C	7: 125,262,587 (GRCm39)	Y1091D	probably damaging	Het
Heatr5b	G	A	17: 79,132,069 (GRCm39)	Q345*	probably null	Het
Hydin	T	C	8: 111,319,408 (GRCm39)	V4437A	possibly damaging	Het
Idi2	T	A	13: 9,008,578 (GRCm39)	L112Q	probably damaging	Het
Ift80	C	T	3: 68,869,629 (GRCm39)	V221M	probably benign	Het
Il16	A	G	7: 83,301,507 (GRCm39)	F205S	probably benign	Het
Irf1	T	A	11: 53,665,277 (GRCm39)	M218K	probably benign	Het
Itga8	T	C	2: 12,270,144 (GRCm39)	N114S	probably benign	Het
Itgae	T	C	11: 73,002,585 (GRCm39)	V114A	probably benign	Het
Klhdc10	A	G	6: 30,441,933 (GRCm39)		probably null	Het
Krt78	C	A	15: 101,859,333 (GRCm39)	R288L	probably benign	Het
Lars2	A	T	9: 123,282,313 (GRCm39)	L632F	probably damaging	Het
Mpdz	T	C	4: 81,235,919 (GRCm39)	D1220G	probably damaging	Het
Msl1	C	T	11: 98,696,245 (GRCm39)	T597I	probably damaging	Het
Mtor	T	C	4: 148,615,070 (GRCm39)		probably benign	Het
Myo1b	T	C	1: 51,821,179 (GRCm39)	T435A	probably damaging	Het
Neb	A	G	2: 52,115,679 (GRCm39)	Y4176H	probably damaging	Het
Nxpe3	A	G	16: 55,670,128 (GRCm39)	F326L	probably benign	Het
Or13a21	T	C	7: 139,999,581 (GRCm39)	Y35C	probably damaging	Het
Or2ag1	A	G	7: 106,313,541 (GRCm39)	S116P	possibly damaging	Het
Pak5	T	A	2: 135,929,333 (GRCm39)	R617W	probably damaging	Het
Peak1	C	A	9: 56,166,486 (GRCm39)	V481L	probably damaging	Het
Pik3ap1	G	A	19: 41,281,267 (GRCm39)		probably benign	Het
Pmm1	C	T	15: 81,844,987 (GRCm39)	E6K	probably benign	Het
Ppp2r5c	G	A	12: 110,546,868 (GRCm39)	V454M	probably benign	Het
Ptprf	C	T	4: 118,106,095 (GRCm39)		probably null	Het
Pygm	G	A	19: 6,443,024 (GRCm39)		probably null	Het
Rimbp2	T	A	5: 128,874,912 (GRCm39)		probably benign	Het
Rps6ka5	A	T	12: 100,541,892 (GRCm39)		probably null	Het
Scarb2	A	G	5: 92,608,662 (GRCm39)	V188A	probably benign	Het
Sfrp1	T	A	8: 23,902,354 (GRCm39)		probably benign	Het
Siglec15	T	A	18: 78,086,820 (GRCm39)		probably benign	Het
Smgc	A	G	15: 91,738,796 (GRCm39)	I485V	probably benign	Het
Tas2r124	A	G	6: 132,731,798 (GRCm39)	I36V	probably benign	Het
Trmt10b	G	T	4: 45,305,879 (GRCm39)	G185W	probably damaging	Het
Ttll4	A	G	1: 74,727,352 (GRCm39)	N798S	possibly damaging	Het
Ttn	G	T	2: 76,619,896 (GRCm39)	T15924N	probably damaging	Het
Utrn	A	T	10: 12,587,301 (GRCm39)	Y912N	possibly damaging	Het
Vmn2r113	T	C	17: 23,177,285 (GRCm39)	Y690H	probably benign	Het
Vmn2r51	T	C	7: 9,834,154 (GRCm39)	R295G	probably damaging	Het
Vpreb3	A	G	10: 75,784,231 (GRCm39)	T14A	probably benign	Het

Other mutations in Dnajb14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1104:Dnajb14	UTSW	3	137,614,115 (GRCm39)	missense	possibly damaging	0.75
R2271:Dnajb14	UTSW	3	137,591,141 (GRCm39)	missense	probably benign
R2425:Dnajb14	UTSW	3	137,598,666 (GRCm39)	missense	probably null	1.00
R3418:Dnajb14	UTSW	3	137,598,631 (GRCm39)	missense	probably null	0.99
R3921:Dnajb14	UTSW	3	137,610,613 (GRCm39)	missense	probably damaging	1.00
R4322:Dnajb14	UTSW	3	137,591,060 (GRCm39)	missense	probably damaging	1.00
R5378:Dnajb14	UTSW	3	137,591,139 (GRCm39)	missense	probably benign	0.01
R6256:Dnajb14	UTSW	3	137,614,124 (GRCm39)	missense	probably damaging	1.00
R6256:Dnajb14	UTSW	3	137,614,123 (GRCm39)	missense	probably damaging	1.00
R7577:Dnajb14	UTSW	3	137,610,558 (GRCm39)	missense	possibly damaging	0.84
R9205:Dnajb14	UTSW	3	137,614,145 (GRCm39)	missense	possibly damaging	0.51
R9717:Dnajb14	UTSW	3	137,608,044 (GRCm39)	missense	probably benign	0.01
X0028:Dnajb14	UTSW	3	137,608,063 (GRCm39)	missense	probably benign	0.18

Posted On

2014-02-04