Mutagenetix > Incidental Mutation

Incidental Mutation 'R7937:Dnajc11'

648797

Institutional Source

Beutler Lab

Gene Symbol

Dnajc11

Ensembl Gene

ENSMUSG00000039768

Gene Name

DnaJ heat shock protein family (Hsp40) member C11

Synonyms

E030019A03Rik

MMRRC Submission

045983-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R7937 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

152018177-152066416 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 152034909 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 44 (D44G)

Ref Sequence

ENSEMBL: ENSMUSP00000051643 (fasta)

Gene Model

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

AlphaFold

Q5U458

Predicted Effect

probably damaging
Transcript: ENSMUST00000062904
AA Change: D44G

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

SMART Domains

Protein: ENSMUSP00000051643
Gene: ENSMUSG00000039768
AA Change: D44G

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 damaging
Transcript: ENSMUST00000139069
AA Change: D44G

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

SMART Domains

Protein: ENSMUSP00000119604
Gene: ENSMUSG00000039768
AA Change: D44G

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 damaging
Transcript: ENSMUST00000147625
AA Change: D6G

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

SMART Domains

Protein: ENSMUSP00000122140
Gene: ENSMUSG00000039768
AA Change: D6G

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

Coding Region Coverage

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

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	GTTGATCCATACA	G	2: 69,154,217 (GRCm39)		probably benign	Het
Ano6	C	A	15: 95,870,470 (GRCm39)	T875K	probably damaging	Het
Armc8	G	A	9: 99,418,272 (GRCm39)	T94I	probably damaging	Het
Ash1l	C	T	3: 88,977,624 (GRCm39)	R2685*	probably null	Het
Bri3bp	A	T	5: 125,531,395 (GRCm39)	N114Y	probably damaging	Het
Camkk2	G	T	5: 122,902,097 (GRCm39)	Q71K	probably benign	Het
Cc2d2b	T	C	19: 40,765,736 (GRCm39)	F49S		Het
Cdh10	A	G	15: 18,964,335 (GRCm39)	T166A	probably benign	Het
Chd8	A	G	14: 52,464,963 (GRCm39)	F633L	probably benign	Het
Clec2m	A	G	6: 129,307,974 (GRCm39)	W32R	possibly damaging	Het
Cntn5	G	A	9: 9,748,450 (GRCm39)	T477I	probably damaging	Het
Cyp2c37	T	A	19: 39,982,202 (GRCm39)	Y68N	probably damaging	Het
Dnah2	A	T	11: 69,408,511 (GRCm39)	L53*	probably null	Het
Elovl3	T	C	19: 46,123,168 (GRCm39)	F248S	probably damaging	Het
Etfdh	A	G	3: 79,517,123 (GRCm39)	L422P	probably benign	Het
Fam184a	C	A	10: 53,509,802 (GRCm39)	E126*	probably null	Het
Fgd4	A	G	16: 16,287,637 (GRCm39)	Y355H	probably damaging	Het
Fgfr2	A	G	7: 129,820,823 (GRCm39)	M237T	probably damaging	Het
Gdap1	A	T	1: 17,230,177 (GRCm39)	K203N	probably benign	Het
Glis1	A	G	4: 107,484,723 (GRCm39)	D594G	possibly damaging	Het
Gm4787	T	A	12: 81,424,679 (GRCm39)	H493L	probably benign	Het
Gpatch3	G	T	4: 133,310,308 (GRCm39)	V418L	probably damaging	Het
Greb1	T	C	12: 16,766,670 (GRCm39)	N376S	probably damaging	Het
Hspg2	A	G	4: 137,278,243 (GRCm39)	Q3010R	probably benign	Het
Ice2	T	A	9: 69,318,067 (GRCm39)	F223I	possibly damaging	Het
Marchf11	A	G	15: 26,409,323 (GRCm39)	T341A	probably damaging	Het
Mllt10	A	G	2: 18,210,895 (GRCm39)	K770E	probably damaging	Het
Mug1	A	G	6: 121,838,128 (GRCm39)	T453A	probably benign	Het
Myh15	C	T	16: 48,976,009 (GRCm39)	T1359I	probably benign	Het
Nbn	A	G	4: 15,958,080 (GRCm39)	K3E	probably damaging	Het
Nlrp4a	T	C	7: 26,163,571 (GRCm39)	F913L	probably benign	Het
Nlrx1	G	T	9: 44,176,086 (GRCm39)	A48D	probably damaging	Het
Noc3l	C	G	19: 38,783,447 (GRCm39)	G643A	possibly damaging	Het
Or4f14b	T	C	2: 111,774,875 (GRCm39)	R309G	probably benign	Het
Or8c17	T	A	9: 38,180,344 (GRCm39)	N170K	probably benign	Het
Pde6b	G	T	5: 108,567,639 (GRCm39)		probably null	Het
Phactr1	A	G	13: 43,231,205 (GRCm39)	I247V	unknown	Het
Pid1	G	T	1: 84,093,745 (GRCm39)	Q48K	probably benign	Het
Ppfia2	A	G	10: 106,699,233 (GRCm39)	N794S	probably benign	Het
Ppox	G	A	1: 171,107,546 (GRCm39)	S123L	possibly damaging	Het
Ptprd	A	C	4: 76,013,772 (GRCm39)	D778E	probably benign	Het
Rgs13	A	G	1: 144,016,600 (GRCm39)	Y48H	probably damaging	Het
Rgs17	T	A	10: 5,783,078 (GRCm39)	M190L	probably benign	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Scaf8	C	T	17: 3,247,482 (GRCm39)	P935L	probably damaging	Het
Slc22a6	T	C	19: 8,601,253 (GRCm39)	I435T	probably benign	Het
Slc34a1	A	G	13: 23,996,648 (GRCm39)	H51R	probably benign	Het
Snx4	T	C	16: 33,112,199 (GRCm39)	L378P	probably damaging	Het
Spns1	A	G	7: 125,973,226 (GRCm39)	L155P	probably damaging	Het
St8sia4	T	C	1: 95,581,320 (GRCm39)	T141A	possibly damaging	Het
Syt10	A	T	15: 89,666,820 (GRCm39)	S510R	probably damaging	Het
Tmprss11d	A	T	5: 86,457,349 (GRCm39)	F241L	probably benign	Het
Tnfrsf21	A	T	17: 43,348,816 (GRCm39)	T143S	probably benign	Het
Trim72	A	G	7: 127,609,491 (GRCm39)	N431S	probably benign	Het
Usp43	A	G	11: 67,746,615 (GRCm39)	S1031P	probably damaging	Het
Wdr75	A	G	1: 45,858,799 (GRCm39)	Y656C	probably benign	Het
Zfp28	T	C	7: 6,396,785 (GRCm39)	C407R	probably damaging	Het
Zfp804b	C	T	5: 6,821,866 (GRCm39)	R399Q	possibly damaging	Het
Zfp949	T	A	9: 88,451,323 (GRCm39)	C298S	probably damaging	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
R5319:Dnajc11	UTSW	4	152,052,983 (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
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'- AACTTGATTATGTCCTGTGCGG -3'
(R):5'- TTTCAAAGGGCGCTGTCAG -3'

Sequencing Primer
(F):5'- ATTATGTCCTGTGCGGAGGGC -3'
(R):5'- GCGCTGTCAGTAAAAGGTACC -3'

Posted On

2020-09-15