Mutagenetix > Incidental Mutation

Incidental Mutation 'R5319:Dnajc11'

405973

Institutional Source

Beutler Lab

Gene Symbol

Dnajc11

Ensembl Gene

ENSMUSG00000039768

Gene Name

DnaJ heat shock protein family (Hsp40) member C11

Synonyms

MMRRC Submission

042902-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R5319 (G1)

Quality Score

206

Status

Validated

Chromosome

Chromosomal Location

151933691-151982137 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 151968526 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 98 (T98A)

Ref Sequence

ENSEMBL: ENSMUSP00000122140 (fasta)

Gene Model

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

AlphaFold

Q5U458

Predicted Effect

probably damaging
Transcript: ENSMUST00000062904
AA Change: T136A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000051643
Gene: ENSMUSG00000039768
AA Change: T136A

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: ENSMUST00000123551

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128582

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138738

Predicted Effect

probably damaging
Transcript: ENSMUST00000139069
AA Change: T136A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000119604
Gene: ENSMUSG00000039768
AA Change: T136A

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: ENSMUST00000142198

Predicted Effect

probably damaging
Transcript: ENSMUST00000147625
AA Change: T98A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000122140
Gene: ENSMUSG00000039768
AA Change: T98A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148048

Meta Mutation Damage Score

0.2350

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

95% (69/73)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449I24Rik	T	C	5: 146,504,696	S218P	probably benign	Het
A430078G23Rik	T	C	8: 3,385,010		probably null	Het
Ahctf1	A	C	1: 179,769,050	S121A	probably damaging	Het
Anpep	C	T	7: 79,841,731	R174H	probably benign	Het
Becn1	A	G	11: 101,288,803		probably benign	Het
Cabin1	T	C	10: 75,725,715	Y984C	probably damaging	Het
Cacna2d4	G	T	6: 119,347,252		probably null	Het
Ccdc14	T	G	16: 34,723,172	N633K	probably damaging	Het
Cdk5rap1	T	A	2: 154,335,569	T577S	possibly damaging	Het
Clca4b	T	C	3: 144,925,179	R307G	possibly damaging	Het
Colgalt2	A	G	1: 152,484,869	Q219R	possibly damaging	Het
Cops3	A	T	11: 59,827,936	D177E	possibly damaging	Het
Cyp2d9	T	C	15: 82,454,055	Y127H	probably damaging	Het
Dst	T	C	1: 34,225,977	S4757P	possibly damaging	Het
Dvl2	C	T	11: 70,008,131	T448I	possibly damaging	Het
E230016K23Rik	T	G	11: 83,621,670		noncoding transcript	Het
Efl1	G	T	7: 82,674,506	D219Y	probably damaging	Het
Epha10	T	A	4: 124,914,000		probably benign	Het
Fbxw22	T	A	9: 109,383,947	T311S	possibly damaging	Het
Folr1	T	A	7: 101,863,977	D37V	probably damaging	Het
Fshb	T	A	2: 107,058,879	I27F	probably damaging	Het
Gm340	G	A	19: 41,586,352	G1182D	probably damaging	Het
Gm8521	A	T	Y: 3,859,335		noncoding transcript	Het
Gpr45	T	C	1: 43,032,838	S214P	probably damaging	Het
Hgf	G	A	5: 16,566,862		probably null	Het
Hs6st1	T	C	1: 36,104,178	V398A	probably benign	Het
Ighmbp2	A	G	19: 3,271,646	V371A	probably damaging	Het
Kif18a	T	A	2: 109,318,025	N621K	probably benign	Het
Lama5	A	G	2: 180,181,118	F2785S	probably damaging	Het
Lrriq3	T	C	3: 155,129,471	I281T	possibly damaging	Het
Macf1	C	T	4: 123,473,436	A2511T	probably damaging	Het
Mark4	T	C	7: 19,436,961	D328G	possibly damaging	Het
Myo1c	G	A	11: 75,662,026	E434K	possibly damaging	Het
Nfe2l1	A	G	11: 96,819,379	S387P	probably damaging	Het
Nr1d2	A	G	14: 18,215,197	S272P	probably benign	Het
Nsrp1	T	C	11: 77,049,467	H104R	probably damaging	Het
Odf1	T	A	15: 38,219,619	S64T	probably benign	Het
Olfr1204	T	A	2: 88,852,778	I276K	probably damaging	Het
Olfr223	A	T	11: 59,589,651	V146E	probably damaging	Het
Olfr843	C	T	9: 19,249,033	R122H	possibly damaging	Het
Pde4b	C	A	4: 102,421,788		probably benign	Het
Phox2a	C	T	7: 101,820,850	T96M	probably damaging	Het
Plg	A	G	17: 12,403,227	E478G	possibly damaging	Het
Polr3a	T	C	14: 24,454,941	I1084V	possibly damaging	Het
Ppp1r12c	T	A	7: 4,483,984	T517S	probably benign	Het
Ptk7	C	T	17: 46,572,677	V821M	probably damaging	Het
Ptpn6	C	T	6: 124,732,950	V2M	probably benign	Het
Rgl2	T	C	17: 33,933,555	V380A	probably benign	Het
Rpl13a-ps1	A	G	19: 50,030,152	V195A	possibly damaging	Het
Rsph1	C	A	17: 31,273,377	V72F	probably benign	Het
Sh3bp4	T	C	1: 89,145,350	V640A	probably benign	Het
Simc1	T	A	13: 54,524,982	V381E	probably benign	Het
Slc15a3	A	T	19: 10,855,932	T438S	probably damaging	Het
Slc5a4b	C	T	10: 76,062,399	V494M	probably benign	Het
Sos2	C	A	12: 69,627,284	R335L	probably benign	Het
Trp53i13	A	T	11: 77,508,740	N254K	probably damaging	Het
Trpc6	A	G	9: 8,609,921	Y130C	probably damaging	Het
Trpv1	A	G	11: 73,239,589	I174V	probably damaging	Het
Tsnax	T	A	8: 125,015,719	D62E	probably damaging	Het
Vezt	T	A	10: 93,970,331	E739D	probably benign	Het
Vmn1r59	T	A	7: 5,454,210	I184F	probably damaging	Het
Yeats2	T	C	16: 20,186,425	V385A	probably benign	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
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
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'- GCCGCAGTGTTTTATTTGACC -3'
(R):5'- TGCAGGCTTTCATAGAGATGAGG -3'

Sequencing Primer
(F):5'- ATTTGACCTGTGACATTGATGC -3'
(R):5'- GCTTTCATAGAGATGAGGCTCACC -3'

Posted On

2016-07-22