Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02253:Dnajc11'

286500

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dnajc11

Ensembl Gene

ENSMUSG00000039768

Gene Name

DnaJ heat shock protein family (Hsp40) member C11

Synonyms

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.965) question?

Stock #

IGL02253

Quality Score

Status

Chromosome

Chromosomal Location

151933691-151982137 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 151950519 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 28 (Y28*)

Ref Sequence

ENSEMBL: ENSMUSP00000122140 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062904] [ENSMUST00000139069] [ENSMUST00000147625]

AlphaFold

Q5U458

Predicted Effect

probably null
Transcript: ENSMUST00000062904
AA Change: Y66*

SMART Domains

Protein: ENSMUSP00000051643
Gene: ENSMUSG00000039768
AA Change: Y66*

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

noncoding transcript
Transcript: ENSMUST00000128582

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133959

Predicted Effect

probably null
Transcript: ENSMUST00000139069
AA Change: Y66*

SMART Domains

Protein: ENSMUSP00000119604
Gene: ENSMUSG00000039768
AA Change: Y66*

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

probably null
Transcript: ENSMUST00000147625
AA Change: Y28*

SMART Domains

Protein: ENSMUSP00000122140
Gene: ENSMUSG00000039768
AA Change: Y28*

Domain	Start	End	E-Value	Type
DnaJ	1	36	2.51e-1	SMART
low complexity region	64	84	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 120,207,959	E76G	probably benign	Het
Adamtsl2	A	T	2: 27,098,697	T587S	possibly damaging	Het
Adgre4	T	A	17: 55,760,573	M9K	probably benign	Het
Aff2	T	A	X: 69,830,791	V447E	probably benign	Het
Arhgef10l	G	T	4: 140,544,284	S425*	probably null	Het
Cabcoco1	T	C	10: 68,436,277		probably null	Het
Calcr	T	A	6: 3,707,523	H259L	probably benign	Het
Cdc42bpa	T	A	1: 180,031,596		probably benign	Het
Cntnap5b	C	T	1: 100,164,211	H540Y	possibly damaging	Het
Cyp2a22	A	T	7: 26,938,237		probably benign	Het
Ddx3x	T	C	X: 13,284,968		probably benign	Het
Dock11	T	C	X: 36,041,128	F1472S	probably damaging	Het
Dusp18	T	C	11: 3,897,576	*189Q	probably null	Het
Dzip3	A	T	16: 48,944,924	Y476N	probably benign	Het
Efr3b	C	T	12: 3,983,391	V139I	probably benign	Het
Evc2	T	A	5: 37,378,427		probably benign	Het
Fam151b	A	T	13: 92,477,927	Y18N	probably damaging	Het
Gk5	T	C	9: 96,137,771	F120S	probably damaging	Het
Gm17359	C	A	3: 79,449,434		probably benign	Het
Gm17359	C	A	3: 79,449,435		probably benign	Het
Kcna3	T	C	3: 107,037,411	L330P	probably damaging	Het
Kctd20	A	G	17: 28,961,486	N7S	probably benign	Het
Kmt2b	G	T	7: 30,581,727	R1276S	probably damaging	Het
Kmt2d	C	T	15: 98,858,175		probably benign	Het
L2hgdh	G	A	12: 69,705,760		probably benign	Het
Lifr	T	G	15: 7,190,604	V905G	probably damaging	Het
Mcm3ap	T	A	10: 76,470,065	V4E	probably benign	Het
Nrip3	A	C	7: 109,761,744		probably null	Het
Nsun2	T	G	13: 69,619,539	V204G	possibly damaging	Het
Nup54	A	G	5: 92,417,451		probably null	Het
Olfr494	T	A	7: 108,368,054	V188E	possibly damaging	Het
Olfr894	T	A	9: 38,219,735	M304K	probably benign	Het
Pdcl3	A	G	1: 38,994,930	D51G	probably benign	Het
Pdlim1	T	C	19: 40,230,530	E219G	probably damaging	Het
Pld4	A	C	12: 112,766,707	K239T	probably damaging	Het
Rgsl1	T	C	1: 153,793,767	Y291C	probably damaging	Het
Rnf213	C	A	11: 119,440,650	H2228Q	probably benign	Het
Rnf222	T	A	11: 68,893,036	I143N	probably damaging	Het
Sirt7	A	G	11: 120,620,867	I13T	probably benign	Het
Slfn10-ps	A	G	11: 83,029,064		noncoding transcript	Het
Slx4ip	T	C	2: 137,000,275		probably null	Het
Spata18	G	T	5: 73,668,596	S164I	possibly damaging	Het
Ssfa2	A	G	2: 79,660,444	T969A	probably damaging	Het
Stk26	T	C	X: 50,886,688	L212P	probably damaging	Het
Tmsb15a	T	C	X: 135,719,702	I56V	probably benign	Het
Tnrc6b	T	A	15: 80,876,541	S150T	probably damaging	Het
Tubb3	T	C	8: 123,420,820	M164T	probably benign	Het
Zfp516	A	G	18: 82,994,497	D1125G	probably benign	Het
Zyg11a	A	C	4: 108,183,695	V685G	probably null	Het

Other mutations in Dnajc11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01769:Dnajc11	APN	4	151979302	missense	probably damaging	0.99
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
R4545:Dnajc11	UTSW	4	151979941	missense	probably damaging	1.00
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
Z1176:Dnajc11	UTSW	4	151933783	missense	probably benign	0.00

Posted On

2015-04-16