Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4812001:Dnajc11'

556902

Institutional Source

Beutler Lab

Gene Symbol

Dnajc11

Ensembl Gene

ENSMUSG00000039768

Gene Name

DnaJ heat shock protein family (Hsp40) member C11

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

PIT4812001 (G1)

Quality Score

216.009

Status

Not validated

Chromosome

Chromosomal Location

151933691-151982137 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 151952889 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 84 (R84G)

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: R84G

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000051643
Gene: ENSMUSG00000039768
AA Change: R84G

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: R84G

PolyPhen 2 Score 0.629 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000119604
Gene: ENSMUSG00000039768
AA Change: R84G

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: R46G

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000122140
Gene: ENSMUSG00000039768
AA Change: R46G

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: 93.8%
3x: 91.0%
10x: 85.3%
20x: 73.0%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	C	18: 6,630,053 (GRCm38)	S252P	possibly damaging	Het
4933409G03Rik	G	A	2: 68,588,948 (GRCm38)	V14I	probably benign	Het
Adgrf5	T	G	17: 43,450,369 (GRCm38)	V985G	probably damaging	Het
Ankrd44	A	T	1: 54,723,038 (GRCm38)	Y542*	probably null	Het
Atp13a3	T	C	16: 30,362,578 (GRCm38)	T75A	probably damaging	Het
Atr	T	C	9: 95,910,649 (GRCm38)	F1675L	probably benign	Het
Atrnl1	A	G	19: 57,731,623 (GRCm38)	I1082V	probably benign	Het
Clip1	T	A	5: 123,630,675 (GRCm38)	R620S	probably benign	Het
Cped1	T	C	6: 22,122,294 (GRCm38)	F391S	probably benign	Het
Cracr2a	T	C	6: 127,625,870 (GRCm38)	L230P	probably damaging	Het
Dctn1	T	A	6: 83,199,762 (GRCm38)	V1266E	possibly damaging	Het
Dlg1	T	A	16: 31,846,885 (GRCm38)	F687I	probably benign	Het
Dnah8	C	A	17: 30,708,445 (GRCm38)	D1358E	probably benign	Het
Dnajc14	C	A	10: 128,806,683 (GRCm38)	T158N	probably damaging	Het
Dscc1	A	G	15: 55,082,261 (GRCm38)	L346P	probably damaging	Het
Efcab3	A	G	11: 105,099,979 (GRCm38)	I71V	probably null	Het
Erbb3	T	A	10: 128,574,379 (GRCm38)	Q670L	possibly damaging	Het
Ercc4	G	A	16: 13,144,447 (GRCm38)	E652K	probably benign	Het
Ercc6l2	T	A	13: 63,858,257 (GRCm38)	V591D	possibly damaging	Het
Fam3c	C	T	6: 22,321,370 (GRCm38)	G134E	probably damaging	Het
Frmd5	A	G	2: 121,586,446 (GRCm38)	V70A	probably benign	Het
Gjc1	A	T	11: 102,800,981 (GRCm38)	Y65*	probably null	Het
Gm3033	A	C	14: 3,848,891 (GRCm38)	L137F		Het
Gria4	C	A	9: 4,427,128 (GRCm38)	A771S	probably damaging	Het
Hc	A	G	2: 35,029,452 (GRCm38)	L674P	probably benign	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,266,277 (GRCm38)		probably benign	Het
Hycc2	T	G	1: 58,548,703 (GRCm38)	D117A	possibly damaging	Het
Inpp5f	A	T	7: 128,692,308 (GRCm38)	Y696F	probably benign	Het
Itga11	C	A	9: 62,732,193 (GRCm38)	Q157K	probably damaging	Het
Itgb5	G	T	16: 33,919,987 (GRCm38)	C489F	probably damaging	Het
Klhl38	C	T	15: 58,322,542 (GRCm38)	G264S	probably benign	Het
Krt78	C	T	15: 101,948,069 (GRCm38)	V436M	probably damaging	Het
Mia2	A	T	12: 59,101,579 (GRCm38)	D75V	possibly damaging	Het
Mphosph6	T	A	8: 117,799,149 (GRCm38)	Q20L	probably damaging	Het
Ogfr	C	T	2: 180,595,511 (GRCm38)	P630S	possibly damaging	Het
Or2c1	A	T	16: 3,839,530 (GRCm38)	K186*	probably null	Het
Or4c11	G	A	2: 88,864,970 (GRCm38)	V122M	probably benign	Het
Or5an9	T	G	19: 12,210,253 (GRCm38)	I229S	probably damaging	Het
Pbx3	T	C	2: 34,224,619 (GRCm38)	E101G	probably damaging	Het
Pcca	T	A	14: 122,790,382 (GRCm38)	N587K	probably benign	Het
Pdia3	G	T	2: 121,433,530 (GRCm38)	A287S	probably damaging	Het
Pfas	T	A	11: 68,990,036 (GRCm38)	D209V		Het
Pramel29	A	G	4: 144,209,516 (GRCm38)	I56T	probably benign	Het
Pter	A	T	2: 12,980,368 (GRCm38)	I170F	probably damaging	Het
Ptprq	A	T	10: 107,666,567 (GRCm38)	V830E	probably damaging	Het
Rab11fip5	T	C	6: 85,341,558 (GRCm38)	D783G	probably benign	Het
Rbm19	T	C	5: 120,128,250 (GRCm38)	V446A	possibly damaging	Het
Selp	A	G	1: 164,132,263 (GRCm38)	N363D	probably benign	Het
Six2	C	A	17: 85,685,301 (GRCm38)	S258I	possibly damaging	Het
Smc1b	A	G	15: 85,069,651 (GRCm38)	V1139A	possibly damaging	Het
Sp1	A	G	15: 102,408,408 (GRCm38)	T121A	possibly damaging	Het
Sucla2	A	T	14: 73,579,449 (GRCm38)	I210L	possibly damaging	Het
Trank1	T	C	9: 111,347,912 (GRCm38)	L339P	probably damaging	Het
Ttll5	T	A	12: 85,926,861 (GRCm38)	D794E	probably benign	Het
Usp32	C	T	11: 85,010,074 (GRCm38)	V1107I	probably damaging	Het
Vmn1r195	T	C	13: 22,278,863 (GRCm38)	Y168H	probably benign	Het
Vmn1r223	A	G	13: 23,249,890 (GRCm38)	N218S	probably damaging	Het
Vmn2r25	T	A	6: 123,823,488 (GRCm38)	S632C	probably damaging	Het
Vwa3a	A	T	7: 120,776,133 (GRCm38)	K390I	probably damaging	Het
Zfp442	A	T	2: 150,409,741 (GRCm38)	C80*	probably null	Het
Zic1	A	T	9: 91,364,341 (GRCm38)	I226N	probably damaging	Het

Other mutations in Dnajc11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01769:Dnajc11	APN	4	151,979,302 (GRCm38)	missense	probably damaging	0.99
IGL02253:Dnajc11	APN	4	151,950,519 (GRCm38)	nonsense	probably null
IGL02606:Dnajc11	APN	4	151,979,484 (GRCm38)	missense	probably benign	0.18
IGL02969:Dnajc11	APN	4	151,978,046 (GRCm38)	missense	probably benign	0.33
IGL03062:Dnajc11	APN	4	151,970,861 (GRCm38)	missense	possibly damaging	0.92
R0601:Dnajc11	UTSW	4	151,969,936 (GRCm38)	missense	probably damaging	1.00
R0620:Dnajc11	UTSW	4	151,973,628 (GRCm38)	missense	possibly damaging	0.54
R0639:Dnajc11	UTSW	4	151,969,936 (GRCm38)	missense	probably damaging	1.00
R1694:Dnajc11	UTSW	4	151,979,273 (GRCm38)	missense	probably damaging	1.00
R4091:Dnajc11	UTSW	4	151,978,093 (GRCm38)	unclassified	probably benign
R4545:Dnajc11	UTSW	4	151,979,941 (GRCm38)	missense	probably damaging	1.00
R4548:Dnajc11	UTSW	4	151,973,617 (GRCm38)	missense	possibly damaging	0.93
R4720:Dnajc11	UTSW	4	151,968,539 (GRCm38)	missense	probably damaging	1.00
R4732:Dnajc11	UTSW	4	151,970,967 (GRCm38)	unclassified	probably benign
R4751:Dnajc11	UTSW	4	151,968,542 (GRCm38)	missense	probably benign	0.01
R4895:Dnajc11	UTSW	4	151,979,933 (GRCm38)	missense	probably damaging	1.00
R5122:Dnajc11	UTSW	4	151,976,997 (GRCm38)	missense	possibly damaging	0.63
R5127:Dnajc11	UTSW	4	151,969,814 (GRCm38)	unclassified	probably benign
R5174:Dnajc11	UTSW	4	151,979,984 (GRCm38)	missense	probably damaging	1.00
R5180:Dnajc11	UTSW	4	151,969,939 (GRCm38)	missense	probably damaging	1.00
R5319:Dnajc11	UTSW	4	151,968,526 (GRCm38)	missense	probably damaging	1.00
R5624:Dnajc11	UTSW	4	151,979,510 (GRCm38)	missense	probably benign
R6056:Dnajc11	UTSW	4	151,978,126 (GRCm38)	unclassified	probably benign
R6434:Dnajc11	UTSW	4	151,979,294 (GRCm38)	missense	probably damaging	1.00
R7635:Dnajc11	UTSW	4	151,968,611 (GRCm38)	missense	probably damaging	1.00
R7652:Dnajc11	UTSW	4	151,974,225 (GRCm38)	missense	probably damaging	0.99
R7937:Dnajc11	UTSW	4	151,950,452 (GRCm38)	missense	probably damaging	1.00
R7940:Dnajc11	UTSW	4	151,968,588 (GRCm38)	missense	probably benign	0.00
R8093:Dnajc11	UTSW	4	151,969,900 (GRCm38)	missense	probably damaging	1.00
R8361:Dnajc11	UTSW	4	151,970,911 (GRCm38)	missense	probably damaging	0.99
R8684:Dnajc11	UTSW	4	151,980,726 (GRCm38)	makesense	probably null
R9608:Dnajc11	UTSW	4	151,950,521 (GRCm38)	missense	possibly damaging	0.94
Z1176:Dnajc11	UTSW	4	151,933,783 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGCTTGTCGGACCTATGGGAAG -3'
(R):5'- CTCTCGCTGATGTCTGATGG -3'

Sequencing Primer
(F):5'- AGAACATTTGTCAGAATGCAGC -3'
(R):5'- TGATGTCTGATGGGACCCC -3'

Posted On

2019-06-07