Mutagenetix > Incidental Mutation

Incidental Mutation 'R9464:Dnajc18'

715097

Institutional Source

Beutler Lab

Gene Symbol

Dnajc18

Ensembl Gene

ENSMUSG00000024350

Gene Name

DnaJ heat shock protein family (Hsp40) member C18

Synonyms

2700075B01Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R9464 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35804156-35841467 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 35830166 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Glycine at position 80 (C80G)

Ref Sequence

ENSEMBL: ENSMUSP00000025208 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025208]

AlphaFold

Q9CZJ9

Predicted Effect

probably damaging
Transcript: ENSMUST00000025208
AA Change: C80G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000025208
Gene: ENSMUSG00000024350
AA Change: C80G

Domain	Start	End	E-Value	Type
DnaJ	81	138	6.52e-27	SMART
low complexity region	200	218	N/A	INTRINSIC
Pfam:DUF1977	243	349	1.7e-28	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930523C07Rik	T	C	1: 159,902,865 (GRCm39)	F45S	possibly damaging	Het
Abca4	A	G	3: 121,913,714 (GRCm39)	T897A	probably benign	Het
Abhd5	A	T	9: 122,208,029 (GRCm39)	T308S	probably benign	Het
Abi2	G	A	1: 60,478,100 (GRCm39)		probably null	Het
Abi3bp	C	A	16: 56,409,046 (GRCm39)	T283N	possibly damaging	Het
Adcy2	A	C	13: 68,882,776 (GRCm39)	N320K	probably damaging	Het
Adcy3	T	A	12: 4,256,939 (GRCm39)	M819K	probably benign	Het
Anapc5	A	G	5: 122,940,209 (GRCm39)	V354A	probably benign	Het
Card14	A	G	11: 119,208,031 (GRCm39)	I34V	probably benign	Het
Ccdc153	A	T	9: 44,157,011 (GRCm39)	T118S	possibly damaging	Het
Champ1	G	A	8: 13,929,114 (GRCm39)	G424D	probably damaging	Het
Crybg3	A	T	16: 59,376,120 (GRCm39)		probably benign	Het
Ctsr	T	A	13: 61,307,295 (GRCm39)	I334F	possibly damaging	Het
Dlgap1	A	T	17: 70,823,964 (GRCm39)	Q316H	probably benign	Het
Dthd1	G	A	5: 63,039,626 (GRCm39)	R676H	probably benign	Het
Fam186b	G	A	15: 99,177,616 (GRCm39)	A570V	probably damaging	Het
Fancc	T	C	13: 63,550,769 (GRCm39)	K18E	possibly damaging	Het
Fbxo46	G	C	7: 18,870,791 (GRCm39)	R470P	probably damaging	Het
Fbxw20	A	C	9: 109,050,399 (GRCm39)	W409G	probably damaging	Het
Gcnt4	C	T	13: 97,083,493 (GRCm39)	T263M	probably benign	Het
Gfy	T	C	7: 44,827,251 (GRCm39)	T282A	probably benign	Het
Glb1l3	A	G	9: 26,761,351 (GRCm39)	M227T	probably damaging	Het
Gm8267	T	C	14: 44,960,346 (GRCm39)	E133G	probably damaging	Het
Hmcn1	A	C	1: 150,599,248 (GRCm39)	I1556R	possibly damaging	Het
Ifnl3	T	C	7: 28,223,287 (GRCm39)	V102A	probably damaging	Het
Kifc3	C	T	8: 95,830,622 (GRCm39)	R548Q	possibly damaging	Het
Lonrf1	T	A	8: 36,690,024 (GRCm39)	Q678L	probably benign	Het
Map2	A	G	1: 66,454,497 (GRCm39)	E1129G	probably damaging	Het
Mug2	C	A	6: 122,028,690 (GRCm39)	D561E	probably benign	Het
Myo3a	G	T	2: 22,232,383 (GRCm39)		probably benign	Het
N4bp1	A	G	8: 87,587,165 (GRCm39)	V591A	probably damaging	Het
Nckap5	C	T	1: 125,952,494 (GRCm39)	G1353R	probably benign	Het
Nek10	T	A	14: 14,937,766 (GRCm38)	H828Q	probably benign	Het
Or52n3	T	A	7: 104,530,050 (GRCm39)	C45*	probably null	Het
Or5k1b	G	T	16: 58,581,202 (GRCm39)	C112*	probably null	Het
Pclo	T	C	5: 14,816,830 (GRCm39)	S1297P		Het
Pkhd1l1	T	C	15: 44,343,009 (GRCm39)	I162T	probably damaging	Het
Plaat5	A	G	19: 7,591,923 (GRCm39)	E113G	probably damaging	Het
Plekhg2	T	C	7: 28,062,297 (GRCm39)	E541G	probably damaging	Het
Ppp1r15a	T	C	7: 45,174,149 (GRCm39)	N220D	possibly damaging	Het
Prss3l	A	G	6: 41,420,486 (GRCm39)	V80A	probably benign	Het
Psmd4	A	G	3: 94,940,735 (GRCm39)	S343P	probably benign	Het
Rnf213	A	T	11: 119,354,406 (GRCm39)	H4063L		Het
Rnf40	T	C	7: 127,190,954 (GRCm39)	V313A	probably benign	Het
Ryr2	T	A	13: 11,752,680 (GRCm39)	E1880D	probably benign	Het
Slc30a4	A	T	2: 122,527,200 (GRCm39)	L398I	probably damaging	Het
Sp100	A	T	1: 85,624,751 (GRCm39)	N380I	probably damaging	Het
Speer4d	T	G	5: 15,828,393 (GRCm39)	L175W	probably damaging	Het
Srcap	T	A	7: 127,137,273 (GRCm39)	I985K	possibly damaging	Het
Tesk2	T	C	4: 116,658,443 (GRCm39)		probably null	Het
Tgfbrap1	A	G	1: 43,114,608 (GRCm39)	V164A	probably damaging	Het
Tlk1	T	C	2: 70,544,341 (GRCm39)	T765A	probably benign	Het
Tmem207	A	T	16: 26,345,413 (GRCm39)	C18S		Het
Tph2	A	T	10: 114,915,992 (GRCm39)	C394S	probably benign	Het
Trrap	C	A	5: 144,763,517 (GRCm39)	H2470N	probably damaging	Het
Ttc21b	T	C	2: 66,053,866 (GRCm39)	Y771C	probably damaging	Het
Uchl3	T	C	14: 101,904,451 (GRCm39)	F122L	probably damaging	Het
Vipr1	G	A	9: 121,471,993 (GRCm39)		probably null	Het
Vmn2r117	G	T	17: 23,696,578 (GRCm39)	D276E	probably benign	Het
Vps13c	T	C	9: 67,858,674 (GRCm39)	L2708P	probably damaging	Het
Vwa3a	T	A	7: 120,385,682 (GRCm39)	S675T	possibly damaging	Het
Zfp473	A	G	7: 44,383,766 (GRCm39)	L189P	probably benign	Het
Zfp956	T	A	6: 47,941,041 (GRCm39)	C467S	probably damaging	Het
Zgrf1	T	A	3: 127,377,741 (GRCm39)	N995K	probably benign	Het

Other mutations in Dnajc18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01061:Dnajc18	APN	18	35,813,995 (GRCm39)	splice site	probably benign
IGL01152:Dnajc18	APN	18	35,813,926 (GRCm39)	missense	probably benign	0.02
IGL01621:Dnajc18	APN	18	35,813,893 (GRCm39)	missense	probably benign
IGL03201:Dnajc18	APN	18	35,813,972 (GRCm39)	missense	probably benign	0.19
R1464:Dnajc18	UTSW	18	35,813,900 (GRCm39)	missense	possibly damaging	0.88
R1464:Dnajc18	UTSW	18	35,813,900 (GRCm39)	missense	possibly damaging	0.88
R1801:Dnajc18	UTSW	18	35,813,857 (GRCm39)	missense	probably damaging	1.00
R3893:Dnajc18	UTSW	18	35,834,048 (GRCm39)	splice site	probably null
R4974:Dnajc18	UTSW	18	35,816,372 (GRCm39)	missense	possibly damaging	0.75
R5234:Dnajc18	UTSW	18	35,816,351 (GRCm39)	missense	probably benign	0.12
R6326:Dnajc18	UTSW	18	35,813,978 (GRCm39)	missense	possibly damaging	0.95
R6360:Dnajc18	UTSW	18	35,819,762 (GRCm39)	missense	probably damaging	1.00
R6460:Dnajc18	UTSW	18	35,833,963 (GRCm39)	missense	probably benign	0.41
R7215:Dnajc18	UTSW	18	35,815,034 (GRCm39)	missense	probably benign
R7492:Dnajc18	UTSW	18	35,819,846 (GRCm39)	missense	probably damaging	1.00
R8290:Dnajc18	UTSW	18	35,816,324 (GRCm39)	nonsense	probably null
R9364:Dnajc18	UTSW	18	35,808,260 (GRCm39)	missense	probably damaging	1.00
X0063:Dnajc18	UTSW	18	35,819,786 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- CCGACATTACAAGGGCAGATG -3'
(R):5'- TCCCCGGCTATGAAAACAGG -3'

Sequencing Primer
(F):5'- TTACAAGGGCAGATGGGCGTG -3'
(R):5'- GGGGACGAGTACTCCAGG -3'

Posted On

2022-06-15