Mutagenetix > Incidental Mutation

Incidental Mutation 'R6925:Dnajc8'

541068

Institutional Source

Beutler Lab

Gene Symbol

Dnajc8

Ensembl Gene

ENSMUSG00000054405

Gene Name

DnaJ heat shock protein family (Hsp40) member C8

Synonyms

1110021D09Rik, 2010009J04Rik

MMRRC Submission

045043-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6925 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

132262861-132281053 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 132271424 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 80 (A80T)

Ref Sequence

ENSEMBL: ENSMUSP00000101560 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067467] [ENSMUST00000094657] [ENSMUST00000105939] [ENSMUST00000105940] [ENSMUST00000138334] [ENSMUST00000139074] [ENSMUST00000144073]

AlphaFold

Q6NZB0

Predicted Effect

probably benign
Transcript: ENSMUST00000067467

SMART Domains

Protein: ENSMUSP00000068069
Gene: ENSMUSG00000054405

Domain	Start	End	E-Value	Type
low complexity region	2	19	N/A	INTRINSIC
SCOP:d1repc1	23	79	4e-5	SMART
Blast:DnaJ	56	79	6e-9	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000094657
AA Change: A99T

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000092242
Gene: ENSMUSG00000054405
AA Change: A99T

Domain	Start	End	E-Value	Type
low complexity region	2	19	N/A	INTRINSIC
DnaJ	56	115	2.65e-18	SMART
low complexity region	135	146	N/A	INTRINSIC
coiled coil region	164	210	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105939
AA Change: A65T

PolyPhen 2 Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000101559
Gene: ENSMUSG00000054405
AA Change: A65T

Domain	Start	End	E-Value	Type
low complexity region	2	19	N/A	INTRINSIC
DnaJ	22	81	2.09e-16	SMART
low complexity region	101	112	N/A	INTRINSIC
coiled coil region	130	176	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000105940
AA Change: A80T

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101560
Gene: ENSMUSG00000054405
AA Change: A80T

Domain	Start	End	E-Value	Type
low complexity region	2	19	N/A	INTRINSIC
DnaJ	56	96	2.15e-1	SMART
low complexity region	116	127	N/A	INTRINSIC
coiled coil region	145	191	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000138334
AA Change: A81T

PolyPhen 2 Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000130135
Gene: ENSMUSG00000054405
AA Change: A81T

Domain	Start	End	E-Value	Type
DnaJ	38	84	4.42e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000139074

Predicted Effect

probably benign
Transcript: ENSMUST00000144073

SMART Domains

Protein: ENSMUSP00000131575
Gene: ENSMUSG00000054405

Domain	Start	End	E-Value	Type
low complexity region	2	19	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000121009
Gene: ENSMUSG00000054405
AA Change: A74T

Domain	Start	End	E-Value	Type
DnaJ	32	91	2.65e-18	SMART
low complexity region	111	122	N/A	INTRINSIC
low complexity region	178	190	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000156385

SMART Domains

Protein: ENSMUSP00000125885
Gene: ENSMUSG00000054405

Domain	Start	End	E-Value	Type
coiled coil region	23	69	N/A	INTRINSIC

Meta Mutation Damage Score

0.1468

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

100% (91/91)

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat1	A	T	9: 53,503,329 (GRCm39)	V170E	probably benign	Het
Atp2b2	T	A	6: 113,737,681 (GRCm39)	I902F	probably damaging	Het
Cacna1d	A	G	14: 29,773,594 (GRCm39)	V1697A	probably benign	Het
Ccdc14	T	A	16: 34,511,119 (GRCm39)	F31Y	probably benign	Het
Ccdc17	T	A	4: 116,455,407 (GRCm39)	V250E	probably damaging	Het
Cct7	A	G	6: 85,436,164 (GRCm39)	N25S	probably damaging	Het
Cdcp3	A	G	7: 130,824,436 (GRCm39)	Q177R	possibly damaging	Het
Cep19	G	C	16: 31,922,760 (GRCm39)	G9R	probably damaging	Het
Ces5a	A	T	8: 94,249,685 (GRCm39)		probably null	Het
Chd1l	T	G	3: 97,490,142 (GRCm39)	E471A	probably damaging	Het
Chd6	A	G	2: 160,855,047 (GRCm39)	I787T	probably damaging	Het
Cntnap5c	A	C	17: 58,702,261 (GRCm39)	T1194P	probably benign	Het
Col6a3	T	A	1: 90,743,724 (GRCm39)	M208L	probably benign	Het
Coro7	A	T	16: 4,446,538 (GRCm39)		probably null	Het
Csrnp2	T	C	15: 100,379,839 (GRCm39)	K484R	probably benign	Het
Cyp2c39	T	A	19: 39,501,639 (GRCm39)	V64E	probably damaging	Het
Ddr2	T	C	1: 169,825,701 (GRCm39)	K300E	probably benign	Het
Ddx56	T	C	11: 6,213,980 (GRCm39)	E393G	probably damaging	Het
Diaph1	A	C	18: 37,986,732 (GRCm39)	Y1084*	probably null	Het
Disp1	A	T	1: 182,868,042 (GRCm39)	F1459L	probably benign	Het
Elfn1	T	A	5: 139,957,440 (GRCm39)	M148K	probably benign	Het
Emcn	T	A	3: 137,124,763 (GRCm39)	I154N	probably damaging	Het
Enah	T	A	1: 181,733,464 (GRCm39)		probably null	Het
Enah	C	G	1: 181,733,463 (GRCm39)		probably null	Het
Ep300	C	A	15: 81,534,182 (GRCm39)	Q2080K	probably benign	Het
Epha2	T	A	4: 141,036,068 (GRCm39)	M168K	probably benign	Het
Ercc6	T	A	14: 32,284,565 (GRCm39)	I776N	probably damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fat4	G	T	3: 39,050,353 (GRCm39)		probably null	Het
G3bp1	A	G	11: 55,388,786 (GRCm39)	R333G	possibly damaging	Het
Gm3604	A	G	13: 62,517,204 (GRCm39)	F385L	probably benign	Het
Gm5800	T	C	14: 51,951,157 (GRCm39)	I147M	possibly damaging	Het
Hipk1	A	G	3: 103,685,561 (GRCm39)	F18S	unknown	Het
Ighv3-8	A	T	12: 114,285,950 (GRCm39)	C131S	probably benign	Het
Il23r	T	G	6: 67,400,477 (GRCm39)	T618P	probably damaging	Het
Il31ra	G	A	13: 112,664,063 (GRCm39)	T538I	possibly damaging	Het
Kcns2	A	G	15: 34,840,059 (GRCm39)	D474G	unknown	Het
Klc4	T	C	17: 46,947,155 (GRCm39)	T407A	possibly damaging	Het
Klra5	C	T	6: 129,888,420 (GRCm39)	S2N	probably benign	Het
Krt10	T	C	11: 99,279,677 (GRCm39)	Y161C	probably damaging	Het
Kxd1	A	T	8: 70,975,928 (GRCm39)	M1K	probably null	Het
Lgals1	A	C	15: 78,812,240 (GRCm39)	D27A	possibly damaging	Het
Lgr5	T	C	10: 115,302,251 (GRCm39)	S308G	probably benign	Het
Lrp1	G	A	10: 127,392,857 (GRCm39)	S2736L	probably benign	Het
Lrpap1	G	T	5: 35,259,880 (GRCm39)	H73N	probably benign	Het
Mcpt1	C	A	14: 56,256,522 (GRCm39)	T86K	probably damaging	Het
Megf6	A	T	4: 154,339,044 (GRCm39)	D527V	probably damaging	Het
Mical3	A	T	6: 120,936,351 (GRCm39)	S1392T	probably benign	Het
Mmp2	A	T	8: 93,566,010 (GRCm39)	D437V	probably damaging	Het
Mob4	T	A	1: 55,191,881 (GRCm39)	Y166*	probably null	Het
Mrap2	G	A	9: 87,064,527 (GRCm39)	M89I	possibly damaging	Het
Mug1	G	A	6: 121,858,746 (GRCm39)	A1155T	probably damaging	Het
Myh2	G	T	11: 67,084,044 (GRCm39)	A1556S	probably benign	Het
Nfatc3	A	G	8: 106,845,954 (GRCm39)	D1028G	probably benign	Het
Ngef	T	G	1: 87,430,985 (GRCm39)		probably null	Het
Nlrp1a	A	T	11: 70,983,339 (GRCm39)	L1209Q	probably null	Het
Npr2	C	T	4: 43,647,553 (GRCm39)	R819C	probably damaging	Het
Nsd2	A	T	5: 34,036,454 (GRCm39)	D646V	probably damaging	Het
Nsun7	A	G	5: 66,434,415 (GRCm39)	H252R	probably damaging	Het
Or2a25	T	A	6: 42,888,791 (GRCm39)	C111*	probably null	Het
Or2k2	A	T	4: 58,785,647 (GRCm39)	I25N	possibly damaging	Het
Or51a10	C	T	7: 103,698,947 (GRCm39)	V205I	probably benign	Het
Or8g32	A	T	9: 39,305,156 (GRCm39)	Q20L	probably benign	Het
Or8g32	G	T	9: 39,305,157 (GRCm39)	Q20H	probably benign	Het
Pcdhga2	A	T	18: 37,803,638 (GRCm39)	D494V	probably damaging	Het
Pcsk2	A	G	2: 143,655,667 (GRCm39)	E617G	probably damaging	Het
Pdc	T	C	1: 150,208,931 (GRCm39)	I138T	probably damaging	Het
Phc2	T	A	4: 128,641,927 (GRCm39)	S750T	probably damaging	Het
Pkd2l1	T	A	19: 44,179,947 (GRCm39)	N88Y	possibly damaging	Het
Plcl1	C	T	1: 55,445,757 (GRCm39)	R71*	probably null	Het
Prag1	C	A	8: 36,571,048 (GRCm39)	L544M	probably damaging	Het
Prkg2	A	G	5: 99,114,369 (GRCm39)		probably null	Het
Psd2	G	A	18: 36,112,764 (GRCm39)	S153N	probably damaging	Het
Rab11fip1	A	T	8: 27,643,000 (GRCm39)	S600T	probably damaging	Het
Rbms1	T	G	2: 60,592,648 (GRCm39)	T222P	probably benign	Het
Slfn8	A	T	11: 82,904,243 (GRCm39)	Y382*	probably null	Het
Socs4	T	A	14: 47,527,195 (GRCm39)	C43*	probably null	Het
Sorl1	T	A	9: 41,944,922 (GRCm39)	T868S	probably damaging	Het
St6gal1	A	G	16: 23,174,963 (GRCm39)	Y267C	probably damaging	Het
Syne1	A	G	10: 5,076,682 (GRCm39)	V6879A	probably benign	Het
Syne2	C	A	12: 75,900,906 (GRCm39)	H22N	possibly damaging	Het
Tmeff2	T	A	1: 50,967,180 (GRCm39)	L25Q	probably damaging	Het
Tmprss11g	G	T	5: 86,635,285 (GRCm39)	D396E	probably benign	Het
Tmprss11g	T	A	5: 86,635,295 (GRCm39)	H393L	probably benign	Het
Vmn2r23	A	G	6: 123,681,512 (GRCm39)	E140G	probably damaging	Het
Wapl	T	C	14: 34,399,320 (GRCm39)	S130P	probably benign	Het
Zeb2	T	A	2: 44,884,541 (GRCm39)	K982M	probably damaging	Het
Zfhx3	C	G	8: 109,683,453 (GRCm39)	H3631D	unknown	Het
Zfp719	T	C	7: 43,240,130 (GRCm39)	S573P	probably damaging	Het
Zfp979	A	T	4: 147,697,999 (GRCm39)	C237S	possibly damaging	Het

Other mutations in Dnajc8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03211:Dnajc8	APN	4	132,272,048 (GRCm39)	missense	possibly damaging	0.95
pith	UTSW	4	132,272,031 (GRCm39)	missense	probably damaging	0.98
R2130:Dnajc8	UTSW	4	132,271,370 (GRCm39)	missense	possibly damaging	0.95
R3077:Dnajc8	UTSW	4	132,271,974 (GRCm39)	missense	probably damaging	1.00
R5621:Dnajc8	UTSW	4	132,280,563 (GRCm39)	unclassified	probably benign
R6921:Dnajc8	UTSW	4	132,272,031 (GRCm39)	missense	probably damaging	0.98
R7255:Dnajc8	UTSW	4	132,278,884 (GRCm39)	missense	probably benign	0.20
R8054:Dnajc8	UTSW	4	132,272,068 (GRCm39)	unclassified	probably benign
R8243:Dnajc8	UTSW	4	132,278,775 (GRCm39)	splice site	probably null
R9779:Dnajc8	UTSW	4	132,277,737 (GRCm39)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- AGAGTCATCTGGAGCTTTCTTAC -3'
(R):5'- GCAATAAAGGTATACTGGTAGACAC -3'

Sequencing Primer
(F):5'- GTCATCTGGAGCTTTCTTACACAAAG -3'
(R):5'- TGAGCCCAGGCCTCTATCAAG -3'

Posted On

2018-11-28