Mutagenetix > Incidental Mutation

Incidental Mutation 'R7940:Dnajc11'

648994

Institutional Source

Beutler Lab

Gene Symbol

Dnajc11

Ensembl Gene

ENSMUSG00000039768

Gene Name

DnaJ heat shock protein family (Hsp40) member C11

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R7940 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

151933691-151982137 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 151968588 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 156 (Q156H)

Ref Sequence

ENSEMBL: ENSMUSP00000051643 (fasta)

Gene Model

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

AlphaFold

Q5U458

Predicted Effect

probably benign
Transcript: ENSMUST00000062904
AA Change: Q156H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000051643
Gene: ENSMUSG00000039768
AA Change: Q156H

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: ENSMUST00000139069
AA Change: Q156H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000119604
Gene: ENSMUSG00000039768
AA Change: Q156H

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

probably benign
Transcript: ENSMUST00000147625
AA Change: Q118H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000122140
Gene: ENSMUSG00000039768
AA Change: Q118H

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

Meta Mutation Damage Score

0.0788

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (56/57)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	A	G	7: 131,351,038	M238T	probably benign	Het
Acacb	C	T	5: 114,166,047	S177F	possibly damaging	Het
Afap1l2	A	G	19: 56,914,165	V822A	probably damaging	Het
Akap2	A	G	4: 57,883,026	K790E	probably damaging	Het
Alpk3	C	T	7: 81,093,945	P1170L	probably damaging	Het
Aox3	A	G	1: 58,188,437	I1234V	probably damaging	Het
Ascc1	G	A	10: 60,012,559	V103M	probably null	Het
Brca2	C	G	5: 150,538,733	T654S	probably benign	Het
Cblb	T	C	16: 52,152,536	F410S	probably damaging	Het
Cep95	T	A	11: 106,796,148	N94K	probably benign	Het
Cfap57	C	T	4: 118,614,931	V84I	probably benign	Het
Cpe	T	A	8: 64,594,911	S440C	probably damaging	Het
Cspg4	C	T	9: 56,888,097	Q1039*	probably null	Het
Cul5	A	T	9: 53,623,769	S612T	probably benign	Het
Dapl1	T	C	2: 59,484,768		probably null	Het
Deptor	C	T	15: 55,208,848	T241M	probably benign	Het
Dnaaf1	A	G	8: 119,582,715	T181A	possibly damaging	Het
Dst	T	C	1: 34,167,676	V975A	possibly damaging	Het
Elf3	T	A	1: 135,257,128	S107C	probably damaging	Het
Enpp2	T	A	15: 54,906,928	D105V	probably damaging	Het
Fam122a	G	A	19: 24,477,188	R57W	probably benign	Het
Fgd6	G	A	10: 94,120,482	V1008I	probably benign	Het
Frmpd2	C	T	14: 33,554,893	R1157*	probably null	Het
Gabrg2	A	C	11: 41,967,647	V218G	probably benign	Het
Gdpgp1	C	T	7: 80,239,205	A328V	probably damaging	Het
Glis1	C	G	4: 107,632,374	F719L	probably damaging	Het
Glis1	A	T	4: 107,632,375	N720Y	probably damaging	Het
Grin2c	G	T	11: 115,255,281	A546D	probably damaging	Het
Gtf3c5	G	A	2: 28,568,580	T433I	possibly damaging	Het
Jmjd6	C	A	11: 116,843,229		probably benign	Het
Kctd14	T	C	7: 97,457,684	S49P	probably damaging	Het
Lamc2	T	A	1: 153,130,775	K877*	probably null	Het
Lgr4	T	A	2: 110,006,513	S397R	probably damaging	Het
Lrp2	A	T	2: 69,432,197	I4420N	possibly damaging	Het
Lyn	A	G	4: 3,783,089	K441E	possibly damaging	Het
Minpp1	A	T	19: 32,485,959	S7C	possibly damaging	Het
Mrps9	T	A	1: 42,862,648	D105E	probably damaging	Het
Ncoa1	C	A	12: 4,313,095	A247S	possibly damaging	Het
Olfr548-ps1	G	A	7: 102,542,308	R124H	possibly damaging	Het
Olfr893	T	C	9: 38,209,200	V47A	probably benign	Het
Pcdh15	G	A	10: 74,594,190	V1250I	probably damaging	Het
Pcdha12	A	T	18: 37,020,356	T43S	probably damaging	Het
Pkn2	G	A	3: 142,810,719	R549C	probably benign	Het
Plscr4	C	T	9: 92,490,790	R322*	probably null	Het
Polq	T	A	16: 37,060,642	M1056K	probably benign	Het
Ppp1r12b	A	T	1: 134,876,055	N455K	probably benign	Het
Rhbdf1	T	A	11: 32,216,258	M1L	possibly damaging	Het
Rspry1	G	T	8: 94,623,007	V8L	probably benign	Het
Slc6a20b	A	G	9: 123,607,601	V249A	probably damaging	Het
Smok2b	A	T	17: 13,236,159	H402L	possibly damaging	Het
Supt20	A	T	3: 54,713,199	N393I	probably benign	Het
Tcp11l1	T	C	2: 104,698,648	K102E	probably damaging	Het
Tpbgl	T	C	7: 99,625,591	Y353C	probably damaging	Het
Usp24	A	T	4: 106,430,544	Q2465L	probably damaging	Het
Vmn2r116	T	A	17: 23,386,972	M286K	probably damaging	Het
Wnt16	C	A	6: 22,291,189	N205K	possibly damaging	Het
Xkr7	C	A	2: 153,032,215	F67L	probably damaging	Het
Zfp473	T	G	7: 44,734,576	E111A	probably damaging	Het
Zfp74	T	C	7: 29,932,442	K126E	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
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
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'- CACTGTCCTTCCGTGAAGTC -3'
(R):5'- GGCCAAATGGACATGCTTGC -3'

Sequencing Primer
(F):5'- TTCCGTGAAGTCAGATGCC -3'
(R):5'- CCAAATGGACATGCTTGCATGTTC -3'

Posted On

2020-09-15