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

E030019A03Rik

MMRRC Submission

042902-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R5319 (G1)

Quality Score

206

Status

Validated

Chromosome

Chromosomal Location

152018177-152066416 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 152052983 bp (GRCm39)

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: 146,441,506 (GRCm39)	S218P	probably benign	Het
Ahctf1	A	C	1: 179,596,615 (GRCm39)	S121A	probably damaging	Het
Anpep	C	T	7: 79,491,479 (GRCm39)	R174H	probably benign	Het
Arhgef18	T	C	8: 3,435,010 (GRCm39)		probably null	Het
Becn1	A	G	11: 101,179,629 (GRCm39)		probably benign	Het
Cabin1	T	C	10: 75,561,549 (GRCm39)	Y984C	probably damaging	Het
Cacna2d4	G	T	6: 119,324,213 (GRCm39)		probably null	Het
Ccdc14	T	G	16: 34,543,542 (GRCm39)	N633K	probably damaging	Het
Cdk5rap1	T	A	2: 154,177,489 (GRCm39)	T577S	possibly damaging	Het
Clca4b	T	C	3: 144,630,940 (GRCm39)	R307G	possibly damaging	Het
Colgalt2	A	G	1: 152,360,620 (GRCm39)	Q219R	possibly damaging	Het
Cops3	A	T	11: 59,718,762 (GRCm39)	D177E	possibly damaging	Het
Cyp2d9	T	C	15: 82,338,256 (GRCm39)	Y127H	probably damaging	Het
Dst	T	C	1: 34,265,058 (GRCm39)	S4757P	possibly damaging	Het
Dvl2	C	T	11: 69,898,957 (GRCm39)	T448I	possibly damaging	Het
E230016K23Rik	T	G	11: 83,512,496 (GRCm39)		noncoding transcript	Het
Efl1	G	T	7: 82,323,714 (GRCm39)	D219Y	probably damaging	Het
Epha10	T	A	4: 124,807,793 (GRCm39)		probably benign	Het
Fbxw22	T	A	9: 109,213,015 (GRCm39)	T311S	possibly damaging	Het
Folr1	T	A	7: 101,513,184 (GRCm39)	D37V	probably damaging	Het
Fshb	T	A	2: 106,889,224 (GRCm39)	I27F	probably damaging	Het
Gm8521	A	T	Y: 3,859,335 (GRCm39)		noncoding transcript	Het
Gpr45	T	C	1: 43,071,998 (GRCm39)	S214P	probably damaging	Het
Hgf	G	A	5: 16,771,860 (GRCm39)		probably null	Het
Hs6st1	T	C	1: 36,143,259 (GRCm39)	V398A	probably benign	Het
Ighmbp2	A	G	19: 3,321,646 (GRCm39)	V371A	probably damaging	Het
Kif18a	T	A	2: 109,148,370 (GRCm39)	N621K	probably benign	Het
Lama5	A	G	2: 179,822,911 (GRCm39)	F2785S	probably damaging	Het
Lcor	G	A	19: 41,574,791 (GRCm39)	G1182D	probably damaging	Het
Lrriq3	T	C	3: 154,835,108 (GRCm39)	I281T	possibly damaging	Het
Macf1	C	T	4: 123,367,229 (GRCm39)	A2511T	probably damaging	Het
Mark4	T	C	7: 19,170,886 (GRCm39)	D328G	possibly damaging	Het
Myo1c	G	A	11: 75,552,852 (GRCm39)	E434K	possibly damaging	Het
Nfe2l1	A	G	11: 96,710,205 (GRCm39)	S387P	probably damaging	Het
Nr1d2	A	G	14: 18,215,197 (GRCm38)	S272P	probably benign	Het
Nsrp1	T	C	11: 76,940,293 (GRCm39)	H104R	probably damaging	Het
Odf1	T	A	15: 38,219,863 (GRCm39)	S64T	probably benign	Het
Or2aa1	A	T	11: 59,480,477 (GRCm39)	V146E	probably damaging	Het
Or4c106	T	A	2: 88,683,122 (GRCm39)	I276K	probably damaging	Het
Or7g25	C	T	9: 19,160,329 (GRCm39)	R122H	possibly damaging	Het
Pde4b	C	A	4: 102,278,985 (GRCm39)		probably benign	Het
Phox2a	C	T	7: 101,470,057 (GRCm39)	T96M	probably damaging	Het
Plg	A	G	17: 12,622,114 (GRCm39)	E478G	possibly damaging	Het
Polr3a	T	C	14: 24,505,009 (GRCm39)	I1084V	possibly damaging	Het
Ppp1r12c	T	A	7: 4,486,983 (GRCm39)	T517S	probably benign	Het
Ptk7	C	T	17: 46,883,603 (GRCm39)	V821M	probably damaging	Het
Ptpn6	C	T	6: 124,709,913 (GRCm39)	V2M	probably benign	Het
Rgl2	T	C	17: 34,152,529 (GRCm39)	V380A	probably benign	Het
Rpl13a-ps1	A	G	19: 50,018,591 (GRCm39)	V195A	possibly damaging	Het
Rsph1	C	A	17: 31,492,351 (GRCm39)	V72F	probably benign	Het
Sh3bp4	T	C	1: 89,073,072 (GRCm39)	V640A	probably benign	Het
Simc1	T	A	13: 54,672,795 (GRCm39)	V381E	probably benign	Het
Slc15a3	A	T	19: 10,833,296 (GRCm39)	T438S	probably damaging	Het
Slc5a4b	C	T	10: 75,898,233 (GRCm39)	V494M	probably benign	Het
Sos2	C	A	12: 69,674,058 (GRCm39)	R335L	probably benign	Het
Trp53i13	A	T	11: 77,399,566 (GRCm39)	N254K	probably damaging	Het
Trpc6	A	G	9: 8,609,922 (GRCm39)	Y130C	probably damaging	Het
Trpv1	A	G	11: 73,130,415 (GRCm39)	I174V	probably damaging	Het
Tsnax	T	A	8: 125,742,458 (GRCm39)	D62E	probably damaging	Het
Vezt	T	A	10: 93,806,193 (GRCm39)	E739D	probably benign	Het
Vmn1r59	T	A	7: 5,457,209 (GRCm39)	I184F	probably damaging	Het
Yeats2	T	C	16: 20,005,175 (GRCm39)	V385A	probably benign	Het

Other mutations in Dnajc11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01769:Dnajc11	APN	4	152,063,759 (GRCm39)	missense	probably damaging	0.99
IGL02253:Dnajc11	APN	4	152,034,976 (GRCm39)	nonsense	probably null
IGL02606:Dnajc11	APN	4	152,063,941 (GRCm39)	missense	probably benign	0.18
IGL02969:Dnajc11	APN	4	152,062,503 (GRCm39)	missense	probably benign	0.33
IGL03062:Dnajc11	APN	4	152,055,318 (GRCm39)	missense	possibly damaging	0.92
PIT4812001:Dnajc11	UTSW	4	152,037,346 (GRCm39)	missense	probably benign	0.04
R0601:Dnajc11	UTSW	4	152,054,393 (GRCm39)	missense	probably damaging	1.00
R0620:Dnajc11	UTSW	4	152,058,085 (GRCm39)	missense	possibly damaging	0.54
R0639:Dnajc11	UTSW	4	152,054,393 (GRCm39)	missense	probably damaging	1.00
R1694:Dnajc11	UTSW	4	152,063,730 (GRCm39)	missense	probably damaging	1.00
R4091:Dnajc11	UTSW	4	152,062,550 (GRCm39)	unclassified	probably benign
R4545:Dnajc11	UTSW	4	152,064,398 (GRCm39)	missense	probably damaging	1.00
R4548:Dnajc11	UTSW	4	152,058,074 (GRCm39)	missense	possibly damaging	0.93
R4720:Dnajc11	UTSW	4	152,052,996 (GRCm39)	missense	probably damaging	1.00
R4732:Dnajc11	UTSW	4	152,055,424 (GRCm39)	unclassified	probably benign
R4751:Dnajc11	UTSW	4	152,052,999 (GRCm39)	missense	probably benign	0.01
R4895:Dnajc11	UTSW	4	152,064,390 (GRCm39)	missense	probably damaging	1.00
R5122:Dnajc11	UTSW	4	152,061,454 (GRCm39)	missense	possibly damaging	0.63
R5127:Dnajc11	UTSW	4	152,054,271 (GRCm39)	unclassified	probably benign
R5174:Dnajc11	UTSW	4	152,064,441 (GRCm39)	missense	probably damaging	1.00
R5180:Dnajc11	UTSW	4	152,054,396 (GRCm39)	missense	probably damaging	1.00
R5624:Dnajc11	UTSW	4	152,063,967 (GRCm39)	missense	probably benign
R6056:Dnajc11	UTSW	4	152,062,583 (GRCm39)	unclassified	probably benign
R6434:Dnajc11	UTSW	4	152,063,751 (GRCm39)	missense	probably damaging	1.00
R7635:Dnajc11	UTSW	4	152,053,068 (GRCm39)	missense	probably damaging	1.00
R7652:Dnajc11	UTSW	4	152,058,682 (GRCm39)	missense	probably damaging	0.99
R7937:Dnajc11	UTSW	4	152,034,909 (GRCm39)	missense	probably damaging	1.00
R7940:Dnajc11	UTSW	4	152,053,045 (GRCm39)	missense	probably benign	0.00
R8093:Dnajc11	UTSW	4	152,054,357 (GRCm39)	missense	probably damaging	1.00
R8361:Dnajc11	UTSW	4	152,055,368 (GRCm39)	missense	probably damaging	0.99
R8684:Dnajc11	UTSW	4	152,065,183 (GRCm39)	makesense	probably null
R9608:Dnajc11	UTSW	4	152,034,978 (GRCm39)	missense	possibly damaging	0.94
Z1176:Dnajc11	UTSW	4	152,018,240 (GRCm39)	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