Mutagenetix > Incidental Mutation

Incidental Mutation 'R9608:Dnajc11'

723995

Institutional Source

Beutler Lab

Gene Symbol

Dnajc11

Ensembl Gene

ENSMUSG00000039768

Gene Name

DnaJ heat shock protein family (Hsp40) member C11

Synonyms

E030019A03Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R9608 (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 152034978 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 67 (E67G)

Ref Sequence

ENSEMBL: ENSMUSP00000051643 (fasta)

Gene Model

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

AlphaFold

Q5U458

Predicted Effect

possibly damaging
Transcript: ENSMUST00000062904
AA Change: E67G

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000051643
Gene: ENSMUSG00000039768
AA Change: E67G

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

possibly damaging
Transcript: ENSMUST00000139069
AA Change: E67G

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000119604
Gene: ENSMUSG00000039768
AA Change: E67G

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

possibly damaging
Transcript: ENSMUST00000147625
AA Change: E29G

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000122140
Gene: ENSMUSG00000039768
AA Change: E29G

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: 99.9%
10x: 99.6%
20x: 98.9%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl5	T	A	19: 55,272,884 (GRCm39)	I333N	probably damaging	Het
Adam2	T	C	14: 66,291,279 (GRCm39)	N333S	probably null	Het
Adgrb2	A	G	4: 129,907,352 (GRCm39)	T955A	probably damaging	Het
Agxt2	T	C	15: 10,400,624 (GRCm39)	F476S	possibly damaging	Het
Asb14	T	A	14: 26,634,148 (GRCm39)	F451Y	probably damaging	Het
Atg9a	A	T	1: 75,161,739 (GRCm39)	N602K	possibly damaging	Het
Atp2a3	T	C	11: 72,879,866 (GRCm39)	I978T	probably benign	Het
BC034090	A	G	1: 155,099,135 (GRCm39)	V550A	possibly damaging	Het
Bud23	T	A	5: 135,086,526 (GRCm39)		probably null	Het
C1qtnf3	A	T	15: 10,952,568 (GRCm39)	H10L	probably benign	Het
Cage1	G	C	13: 38,195,371 (GRCm39)	I783M	possibly damaging	Het
Ccdc142	C	T	6: 83,084,082 (GRCm39)	Q496*	probably null	Het
Cd163	A	C	6: 124,286,163 (GRCm39)	K238Q	possibly damaging	Het
Cdh6	A	T	15: 13,064,621 (GRCm39)	Y90N	probably damaging	Het
Cpeb1	A	G	7: 81,021,758 (GRCm39)		probably null	Het
Cpt2	G	T	4: 107,765,341 (GRCm39)	P141Q	probably damaging	Het
Cspg4	T	A	9: 56,792,836 (GRCm39)	H190Q	probably benign	Het
Dcst1	T	C	3: 89,266,442 (GRCm39)	M139V	possibly damaging	Het
Dennd5a	G	C	7: 109,520,713 (GRCm39)	N381K	probably damaging	Het
Dera	A	G	6: 137,813,876 (GRCm39)	R299G	possibly damaging	Het
Dnah2	C	T	11: 69,344,888 (GRCm39)	G2729R	probably null	Het
Eif2ak3	T	A	6: 70,841,511 (GRCm39)	C152*	probably null	Het
Eln	T	G	5: 134,755,331 (GRCm39)	K241Q	unknown	Het
Exoc6b	C	T	6: 84,602,106 (GRCm39)		probably null	Het
Eya1	A	T	1: 14,373,029 (GRCm39)	I30K	probably benign	Het
Fbxo39	A	G	11: 72,208,101 (GRCm39)	K151R	probably benign	Het
Fer	A	G	17: 64,214,327 (GRCm39)	T87A	probably benign	Het
Fgf4	A	T	7: 144,415,335 (GRCm39)	N32Y	possibly damaging	Het
Fkbp6	G	A	5: 135,375,027 (GRCm39)	P129S	probably damaging	Het
Fndc7	C	A	3: 108,774,597 (GRCm39)	V554F	probably damaging	Het
Frk	G	A	10: 34,481,873 (GRCm39)		probably null	Het
Ghrhr	T	A	6: 55,357,786 (GRCm39)	I139N	possibly damaging	Het
Gm17175	A	T	14: 51,809,099 (GRCm39)	M89K	probably damaging	Het
Gm4787	A	T	12: 81,425,086 (GRCm39)	N357K	probably benign	Het
Gpihbp1	G	A	15: 75,469,612 (GRCm39)	C109Y	probably damaging	Het
Gps1	T	C	11: 120,677,641 (GRCm39)	V257A	probably benign	Het
H2-M3	T	C	17: 37,581,159 (GRCm39)	S3P	probably benign	Het
Hmcn1	G	A	1: 150,475,303 (GRCm39)	P4674L	probably damaging	Het
Hoxa11	T	C	6: 52,222,224 (GRCm39)	D159G	probably benign	Het
Kcnn4	G	A	7: 24,083,503 (GRCm39)	D395N	probably damaging	Het
Krt222	T	C	11: 99,126,981 (GRCm39)	E213G	probably damaging	Het
Lmcd1	A	G	6: 112,306,785 (GRCm39)	D319G	possibly damaging	Het
Ltv1	A	G	10: 13,066,440 (GRCm39)	F62S	probably damaging	Het
Man2a1	G	T	17: 65,041,953 (GRCm39)	R957L	probably damaging	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mrpl45	T	G	11: 97,217,687 (GRCm39)	V197G	probably damaging	Het
Ndn	C	T	7: 61,998,337 (GRCm39)	P61L	possibly damaging	Het
Nek4	T	C	14: 30,675,904 (GRCm39)	Y73H	probably damaging	Het
Nom1	T	A	5: 29,642,750 (GRCm39)	V417D	probably damaging	Het
Or10q1b	A	T	19: 13,682,868 (GRCm39)	I226F	probably damaging	Het
Or4k5	A	G	14: 50,386,055 (GRCm39)	I92T	probably benign	Het
Or5p68	A	G	7: 107,945,513 (GRCm39)	L225P	probably damaging	Het
Pacs1	A	G	19: 5,193,862 (GRCm39)	S556P	probably damaging	Het
Pcdh1	C	T	18: 38,330,904 (GRCm39)	V839M	possibly damaging	Het
Pcdhb18	T	A	18: 37,623,694 (GRCm39)	N341K	probably damaging	Het
Pde6d	G	A	1: 86,473,424 (GRCm39)	T124M	possibly damaging	Het
Piezo2	T	A	18: 63,280,016 (GRCm39)	E185V	probably benign	Het
Pkhd1l1	T	C	15: 44,442,029 (GRCm39)	V3656A	possibly damaging	Het
Plcg1	A	G	2: 160,597,671 (GRCm39)	Y771C	probably benign	Het
Ppdpf	T	C	2: 180,829,668 (GRCm39)	L41P	probably benign	Het
Prepl	T	C	17: 85,376,321 (GRCm39)	T578A	probably benign	Het
Prkdc	C	A	16: 15,548,334 (GRCm39)	L1981M	possibly damaging	Het
Prkdc	T	A	16: 15,548,335 (GRCm39)	L1981Q	probably damaging	Het
Rb1cc1	C	T	1: 6,318,528 (GRCm39)	S649L	probably benign	Het
Rbbp6	A	G	7: 122,591,268 (GRCm39)	T457A	possibly damaging	Het
Sbf1	T	A	15: 89,191,808 (GRCm39)		probably null	Het
Scn1a	T	C	2: 66,152,687 (GRCm39)	I776V	probably benign	Het
Sec23a	G	A	12: 59,019,804 (GRCm39)	P588S	probably benign	Het
Slfn5	A	G	11: 82,851,830 (GRCm39)	D652G	possibly damaging	Het
Slfn5	C	A	11: 82,852,321 (GRCm39)	P816T	probably benign	Het
Smarcad1	C	T	6: 65,091,318 (GRCm39)	T1013I	probably damaging	Het
Spidr	G	A	16: 15,855,474 (GRCm39)	T347I	probably benign	Het
Stx1b	A	T	7: 127,406,551 (GRCm39)	M266K	probably damaging	Het
Tarm1	A	G	7: 3,551,062 (GRCm39)		probably benign	Het
Tfap2c	A	T	2: 172,391,764 (GRCm39)	K4*	probably null	Het
Trpm5	A	T	7: 142,633,148 (GRCm39)	V819E	possibly damaging	Het
Trrap	A	G	5: 144,780,128 (GRCm39)	T3240A	possibly damaging	Het
Uqcc2	A	T	17: 27,341,709 (GRCm39)	V130D	probably benign	Het
Uspl1	T	A	5: 149,151,870 (GRCm39)	D1023E	probably benign	Het
Vinac1	C	T	2: 128,878,550 (GRCm39)	W1125*	probably null	Het
Vmn2r28	A	T	7: 5,491,220 (GRCm39)	H342Q	probably benign	Het
Vmn2r33	A	T	7: 7,557,153 (GRCm39)	C516S	possibly damaging	Het
Vps45	G	A	3: 95,940,982 (GRCm39)	R420W	probably damaging	Het
Zfp42	C	T	8: 43,749,172 (GRCm39)	V110I	possibly damaging	Het
Zfp467	T	A	6: 48,404,776 (GRCm39)	K100N	unknown	Het
Zfyve16	A	T	13: 92,636,788 (GRCm39)	S1307R	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
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
Z1176:Dnajc11	UTSW	4	152,018,240 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TAAGTGCCATTGATTGTTGTCC -3'
(R):5'- ATAGAGACCCCGCCTGTTTC -3'

Sequencing Primer
(F):5'- GCCATTGATTGTTGTCCTCTAATG -3'
(R):5'- CTGGACACATATTGATTTCCAAAGC -3'

Posted On

2022-09-12