Mutagenetix > Incidental Mutation

Incidental Mutation 'R4545:Dnajc11'

333709

Institutional Source

Beutler Lab

Gene Symbol

Dnajc11

Ensembl Gene

ENSMUSG00000039768

Gene Name

DnaJ heat shock protein family (Hsp40) member C11

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R4545 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

151933691-151982137 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 151979941 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 516 (D516E)

Ref Sequence

ENSEMBL: ENSMUSP00000051643 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036680] [ENSMUST00000062904] [ENSMUST00000105665] [ENSMUST00000139069]

AlphaFold

Q5U458

Predicted Effect

probably benign
Transcript: ENSMUST00000036680

SMART Domains

Protein: ENSMUSP00000035240
Gene: ENSMUSG00000039759

Domain	Start	End	E-Value	Type
THAP	3	88	5.28e-19	SMART
DM3	23	87	6.96e-21	SMART
coiled coil region	166	189	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000062904
AA Change: D516E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000051643
Gene: ENSMUSG00000039768
AA Change: D516E

Domain	Start	End	E-Value	Type
DnaJ	13	74	4.41e-24	SMART
low complexity region	102	122	N/A	INTRINSIC
Pfam:DUF3395	410	549	2e-50	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105665

SMART Domains

Protein: ENSMUSP00000101290
Gene: ENSMUSG00000039759

Domain	Start	End	E-Value	Type
THAP	3	88	5.28e-19	SMART
DM3	23	87	6.96e-21	SMART
coiled coil region	132	155	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124955

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128582

Predicted Effect

probably benign
Transcript: ENSMUST00000139069

SMART Domains

Protein: ENSMUSP00000119604
Gene: ENSMUSG00000039768

Domain	Start	End	E-Value	Type
DnaJ	13	74	4.41e-24	SMART
low complexity region	102	122	N/A	INTRINSIC
coiled coil region	318	349	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139555

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148048

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149337

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

98% (41/42)

MGI Phenotype

PHENOTYPE: Mice homozygous for an ENU mutation exhibit motor neuron pathology, disorganized cristae and lymphoid abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c20	A	C	13: 4,507,844	V201G	probably damaging	Het
Atf7	A	G	15: 102,534,327	V449A	probably benign	Het
Ccr1	G	A	9: 123,964,400	A31V	probably benign	Het
Chrna6	A	T	8: 27,406,683	S389T	probably benign	Het
Clic6	C	T	16: 92,492,157		probably benign	Het
Cmya5	G	A	13: 93,091,918	R2221*	probably null	Het
Coq8b	G	T	7: 27,233,505	C13F	probably benign	Het
Cspg4	T	A	9: 56,888,629	L1216Q	possibly damaging	Het
Decr1	C	A	4: 15,930,979	V118F	probably damaging	Het
Dlec1	A	T	9: 119,128,078	I796F	probably damaging	Het
Dock8	G	A	19: 25,188,358	V1869M	probably damaging	Het
Dst	A	G	1: 34,188,738	D1982G	probably damaging	Het
Gm11808	C	T	4: 3,973,244	R106H	probably benign	Het
Gnptab	G	A	10: 88,414,595	D190N	probably benign	Het
Golga4	A	G	9: 118,556,845	K22E	probably damaging	Het
Hecw2	T	C	1: 53,813,222	*1579W	probably null	Het
Ica1l	A	G	1: 60,013,818		probably null	Het
Ift122	T	A	6: 115,890,588	L433Q	probably damaging	Het
Iqgap1	T	C	7: 80,762,567		probably null	Het
Klra13-ps	T	C	6: 130,291,269		noncoding transcript	Het
Mndal	A	T	1: 173,875,664	Y58*	probably null	Het
Mvb12b	G	C	2: 33,827,700	P172R	possibly damaging	Het
Ncapg	T	C	5: 45,671,212	F102L	probably damaging	Het
Olfr1447	T	A	19: 12,901,268	K171*	probably null	Het
Olfr235	T	C	19: 12,268,824	V198A	possibly damaging	Het
Olfr390	T	C	11: 73,787,166	V76A	probably damaging	Het
Pde8a	A	T	7: 81,328,099	R713S	probably damaging	Het
Rbks	T	C	5: 31,624,568	N296S	probably benign	Het
Sema3c	G	A	5: 17,694,772	V421I	probably benign	Het
Tm9sf1	A	G	14: 55,638,108	V393A	possibly damaging	Het
Tubgcp2	G	A	7: 139,996,071	P893L	possibly damaging	Het
Vnn3	G	A	10: 23,856,326	R158H	probably benign	Het
Zfa-ps	G	T	10: 52,544,936		noncoding transcript	Het
Zfp414	T	C	17: 33,631,648		probably benign	Het
Zfp810	G	A	9: 22,278,745	T289I	probably damaging	Het
Zfp819	G	T	7: 43,617,785	R488L	probably damaging	Het
Zfp942	C	T	17: 21,928,304	G448D	probably benign	Het
Zscan12	A	G	13: 21,366,705	K165E	possibly damaging	Het

Other mutations in Dnajc11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01769:Dnajc11	APN	4	151979302	missense	probably damaging	0.99
IGL02253:Dnajc11	APN	4	151950519	nonsense	probably null
IGL02606:Dnajc11	APN	4	151979484	missense	probably benign	0.18
IGL02969:Dnajc11	APN	4	151978046	missense	probably benign	0.33
IGL03062:Dnajc11	APN	4	151970861	missense	possibly damaging	0.92
PIT4812001:Dnajc11	UTSW	4	151952889	missense	probably benign	0.04
R0601:Dnajc11	UTSW	4	151969936	missense	probably damaging	1.00
R0620:Dnajc11	UTSW	4	151973628	missense	possibly damaging	0.54
R0639:Dnajc11	UTSW	4	151969936	missense	probably damaging	1.00
R1694:Dnajc11	UTSW	4	151979273	missense	probably damaging	1.00
R4091:Dnajc11	UTSW	4	151978093	unclassified	probably benign
R4548:Dnajc11	UTSW	4	151973617	missense	possibly damaging	0.93
R4720:Dnajc11	UTSW	4	151968539	missense	probably damaging	1.00
R4732:Dnajc11	UTSW	4	151970967	unclassified	probably benign
R4751:Dnajc11	UTSW	4	151968542	missense	probably benign	0.01
R4895:Dnajc11	UTSW	4	151979933	missense	probably damaging	1.00
R5122:Dnajc11	UTSW	4	151976997	missense	possibly damaging	0.63
R5127:Dnajc11	UTSW	4	151969814	unclassified	probably benign
R5174:Dnajc11	UTSW	4	151979984	missense	probably damaging	1.00
R5180:Dnajc11	UTSW	4	151969939	missense	probably damaging	1.00
R5319:Dnajc11	UTSW	4	151968526	missense	probably damaging	1.00
R5624:Dnajc11	UTSW	4	151979510	missense	probably benign
R6056:Dnajc11	UTSW	4	151978126	unclassified	probably benign
R6434:Dnajc11	UTSW	4	151979294	missense	probably damaging	1.00
R7635:Dnajc11	UTSW	4	151968611	missense	probably damaging	1.00
R7652:Dnajc11	UTSW	4	151974225	missense	probably damaging	0.99
R7937:Dnajc11	UTSW	4	151950452	missense	probably damaging	1.00
R7940:Dnajc11	UTSW	4	151968588	missense	probably benign	0.00
R8093:Dnajc11	UTSW	4	151969900	missense	probably damaging	1.00
R8361:Dnajc11	UTSW	4	151970911	missense	probably damaging	0.99
R8684:Dnajc11	UTSW	4	151980726	makesense	probably null
R9608:Dnajc11	UTSW	4	151950521	missense	possibly damaging	0.94
Z1176:Dnajc11	UTSW	4	151933783	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTCCAGAAAGAGGCTGTGGG -3'
(R):5'- CAGTAGCTGTCACTGATGAACC -3'

Sequencing Primer
(F):5'- CTGTGGGCTCAGAAGTCATC -3'
(R):5'- TGATGAACCTGCCTGCACAG -3'

Posted On

2015-08-18