Mutagenetix > Incidental Mutation

Incidental Mutation 'R3979:Dnajb6'

311179

Institutional Source

Beutler Lab

Gene Symbol

Dnajb6

Ensembl Gene

ENSMUSG00000029131

Gene Name

DnaJ heat shock protein family (Hsp40) member B6

Synonyms

Mrj, mDj4

MMRRC Submission

040942-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3979 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

29940896-29991476 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29956006 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 46 (F46L)

Ref Sequence

ENSEMBL: ENSMUSP00000142783 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008733] [ENSMUST00000012734] [ENSMUST00000114839] [ENSMUST00000196528] [ENSMUST00000196785] [ENSMUST00000198694]

AlphaFold

O54946

Predicted Effect

probably benign
Transcript: ENSMUST00000008733
AA Change: F46L

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000008733
Gene: ENSMUSG00000029131
AA Change: F46L

Domain	Start	End	E-Value	Type
DnaJ	2	61	4.64e-32	SMART
low complexity region	109	124	N/A	INTRINSIC
low complexity region	125	158	N/A	INTRINSIC
low complexity region	166	185	N/A	INTRINSIC
low complexity region	249	261	N/A	INTRINSIC
low complexity region	272	293	N/A	INTRINSIC
low complexity region	339	363	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000012734
AA Change: F46L

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000012734
Gene: ENSMUSG00000029131
AA Change: F46L

Domain	Start	End	E-Value	Type
DnaJ	2	61	4.64e-32	SMART
low complexity region	111	124	N/A	INTRINSIC
low complexity region	192	205	N/A	INTRINSIC
coiled coil region	223	244	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114839
AA Change: F46L

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000110488
Gene: ENSMUSG00000029131
AA Change: F46L

Domain	Start	End	E-Value	Type
DnaJ	2	61	4.64e-32	SMART
low complexity region	109	124	N/A	INTRINSIC
low complexity region	125	158	N/A	INTRINSIC
low complexity region	166	185	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149553

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151976

Predicted Effect

probably benign
Transcript: ENSMUST00000196528
AA Change: F46L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000142878
Gene: ENSMUSG00000029131
AA Change: F46L

Domain	Start	End	E-Value	Type
DnaJ	2	61	3e-34	SMART
low complexity region	109	124	N/A	INTRINSIC
low complexity region	125	158	N/A	INTRINSIC
low complexity region	166	185	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000196785

Predicted Effect

possibly damaging
Transcript: ENSMUST00000198694
AA Change: F46L

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000142783
Gene: ENSMUSG00000029131
AA Change: F46L

Domain	Start	End	E-Value	Type
DnaJ	2	61	1.4e-23	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the DNAJ protein family. DNAJ family members are characterized by a highly conserved amino acid stretch called the 'J-domain' and function as one of the two major classes of molecular chaperones involved in a wide range of cellular events, such as protein folding and oligomeric protein complex assembly. This family member may also play a role in polyglutamine aggregation in specific neurons. Alternative splicing of this gene results in multiple transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants died at mid-gestation due to a failure of chorioallantoic fusion at embryonic day 8.5, and thus preventing the formation of a mature placenta. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	G	2: 69,154,320 (GRCm39)	V82A	probably benign	Het
Adam28	A	G	14: 68,848,443 (GRCm39)	V671A	probably benign	Het
Ak3	T	A	19: 29,025,118 (GRCm39)	S38C	probably damaging	Het
Arfgef1	A	G	1: 10,279,859 (GRCm39)	V236A	probably benign	Het
Arhgap10	T	C	8: 78,147,354 (GRCm39)	N170S	probably benign	Het
B020004C17Rik	G	T	14: 57,254,645 (GRCm39)	M156I	possibly damaging	Het
Bicral	T	A	17: 47,141,917 (GRCm39)	M1L	unknown	Het
Bop1	A	G	15: 76,338,076 (GRCm39)	L598P	probably damaging	Het
Cachd1	A	T	4: 100,828,085 (GRCm39)	D611V	probably damaging	Het
Cfap70	T	A	14: 20,489,787 (GRCm39)	E246D	probably benign	Het
Chl1	T	A	6: 103,692,245 (GRCm39)	Y294*	probably null	Het
Chrna2	T	A	14: 66,386,402 (GRCm39)	Y183N	probably damaging	Het
Dab2	A	G	15: 6,464,644 (GRCm39)		probably null	Het
Exoc7	T	C	11: 116,187,588 (GRCm39)	E275G	probably benign	Het
Frem2	A	G	3: 53,559,491 (GRCm39)	I1672T	probably benign	Het
Gprc6a	C	A	10: 51,497,197 (GRCm39)	V449L	probably benign	Het
H2-M10.4	A	G	17: 36,772,877 (GRCm39)	V35A	probably benign	Het
Hr	A	G	14: 70,801,024 (GRCm39)	T699A	probably benign	Het
Iffo1	A	G	6: 125,137,552 (GRCm39)		probably benign	Het
Iqgap1	G	A	7: 80,409,682 (GRCm39)	H218Y	probably damaging	Het
Itpr3	A	C	17: 27,304,105 (GRCm39)	K109Q	probably benign	Het
Itpr3	A	G	17: 27,310,546 (GRCm39)	D443G	probably damaging	Het
Katna1	T	C	10: 7,628,518 (GRCm39)	M249T	probably damaging	Het
Klk1b4	G	A	7: 43,861,017 (GRCm39)	G220D	probably damaging	Het
Krt24	A	G	11: 99,173,596 (GRCm39)	C242R	probably benign	Het
Madd	G	A	2: 91,007,173 (GRCm39)	T313I	possibly damaging	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Mical2	A	G	7: 112,006,885 (GRCm39)		probably null	Het
Neil3	T	C	8: 54,076,699 (GRCm39)	T79A	probably damaging	Het
Nras	A	G	3: 102,967,541 (GRCm39)	I46V	probably benign	Het
Or2w1b	T	A	13: 21,300,031 (GRCm39)	H56Q	probably benign	Het
Or4a66	T	C	2: 88,530,792 (GRCm39)	S294G	probably benign	Het
Ppfia2	A	G	10: 106,666,490 (GRCm39)	T399A	possibly damaging	Het
Rarres1	A	G	3: 67,403,143 (GRCm39)	V86A	probably benign	Het
Rdh19	A	T	10: 127,685,944 (GRCm39)	R19W	possibly damaging	Het
Rock2	A	G	12: 17,022,737 (GRCm39)	K1059E	probably damaging	Het
Sft2d1rt	T	A	11: 45,942,853 (GRCm39)	K90M	probably damaging	Het
Sparcl1	T	C	5: 104,240,647 (GRCm39)	H259R	probably benign	Het
Spata31d1c	A	G	13: 65,182,974 (GRCm39)	D172G	possibly damaging	Het
Stab2	T	C	10: 86,699,320 (GRCm39)	D515G	possibly damaging	Het
Sycp2l	A	G	13: 41,295,440 (GRCm39)	I334M	probably damaging	Het
Tas2r103	A	G	6: 133,013,280 (GRCm39)	L262P	probably benign	Het
Tasor	T	C	14: 27,199,087 (GRCm39)	L1335S	possibly damaging	Het
Tcaf2	A	G	6: 42,619,481 (GRCm39)	V182A	probably damaging	Het
Tcof1	C	T	18: 60,964,605 (GRCm39)	E674K	possibly damaging	Het
Trp63	A	G	16: 25,639,490 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,575,738 (GRCm39)	W25052R	probably damaging	Het
Ubr1	T	A	2: 120,693,168 (GRCm39)	N1746I	probably benign	Het
Vax2	T	C	6: 83,714,529 (GRCm39)	V148A	probably damaging	Het
Vmn2r112	T	A	17: 22,822,096 (GRCm39)	V258E	probably damaging	Het
Vmn2r96	T	A	17: 18,817,941 (GRCm39)	I698N	probably damaging	Het
Wdr90	A	G	17: 26,078,252 (GRCm39)	V372A	probably benign	Het
Zfp335	C	T	2: 164,752,558 (GRCm39)	G62D	probably benign	Het
Zfp563	G	A	17: 33,324,701 (GRCm39)	R432H	probably benign	Het
Zhx1	T	C	15: 57,916,636 (GRCm39)	T537A	probably benign	Het

Other mutations in Dnajb6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02282:Dnajb6	APN	5	29,957,416 (GRCm39)	missense	probably damaging	1.00
IGL02706:Dnajb6	APN	5	29,957,421 (GRCm39)	missense	probably damaging	1.00
R0211:Dnajb6	UTSW	5	29,990,077 (GRCm39)	intron	probably benign
R0829:Dnajb6	UTSW	5	29,990,020 (GRCm39)	intron	probably benign
R0925:Dnajb6	UTSW	5	29,957,398 (GRCm39)	missense	probably damaging	0.98
R1776:Dnajb6	UTSW	5	29,990,091 (GRCm39)	intron	probably benign
R2357:Dnajb6	UTSW	5	29,958,638 (GRCm39)	missense	probably damaging	0.98
R4151:Dnajb6	UTSW	5	29,961,234 (GRCm39)	missense	probably benign
R6243:Dnajb6	UTSW	5	29,986,131 (GRCm39)	missense	probably benign	0.08
R6671:Dnajb6	UTSW	5	29,953,418 (GRCm39)	missense	probably damaging	0.98
R7206:Dnajb6	UTSW	5	29,986,335 (GRCm39)	missense	possibly damaging	0.94
R7440:Dnajb6	UTSW	5	29,962,857 (GRCm39)	missense	possibly damaging	0.85
R7536:Dnajb6	UTSW	5	29,962,804 (GRCm39)	missense	possibly damaging	0.72
R8334:Dnajb6	UTSW	5	29,986,238 (GRCm39)	missense	unknown
R9485:Dnajb6	UTSW	5	29,986,517 (GRCm39)	nonsense	probably null
R9665:Dnajb6	UTSW	5	29,971,374 (GRCm39)	missense	probably damaging	1.00
Z1176:Dnajb6	UTSW	5	29,957,443 (GRCm39)	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- TGTAGCCATCTCAACTCTCAGAC -3'
(R):5'- GCACCCATGGTTAGATGTACCAG -3'

Sequencing Primer
(F):5'- CTCAGACCCATTGCTAGAATTAAAG -3'
(R):5'- CATGGTTAGATGTACCAGATACAAAG -3'

Posted On

2015-04-29