Mutagenetix > Incidental Mutation

Incidental Mutation 'R1195:Dnajc25'

244137

Institutional Source

Beutler Lab

Gene Symbol

Dnajc25

Ensembl Gene

ENSMUSG00000070972

Gene Name

DnaJ heat shock protein family (Hsp40) member C25

Synonyms

2010109C08Rik, 2010203O07Rik

MMRRC Submission

039267-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.723) question?

Stock #

R1195 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

58995215-59025573 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 59003415 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 62 (A62V)

Ref Sequence

ENSEMBL: ENSMUSP00000114320 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095070] [ENSMUST00000148366] [ENSMUST00000150309] [ENSMUST00000152199] [ENSMUST00000153467] [ENSMUST00000174664]

AlphaFold

A2ALW5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000095070
AA Change: A62V

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000092680
Gene: ENSMUSG00000070972
AA Change: A62V

Domain	Start	End	E-Value	Type
signal peptide	1	37	N/A	INTRINSIC
DnaJ	47	113	2.04e-19	SMART
low complexity region	125	138	N/A	INTRINSIC
transmembrane domain	147	164	N/A	INTRINSIC
coiled coil region	195	220	N/A	INTRINSIC
transmembrane domain	241	263	N/A	INTRINSIC
low complexity region	313	331	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000148366

SMART Domains

Protein: ENSMUSP00000116171
Gene: ENSMUSG00000070972

Domain	Start	End	E-Value	Type
low complexity region	6	19	N/A	INTRINSIC
transmembrane domain	24	46	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000150309
AA Change: A62V

PolyPhen 2 Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000123172
Gene: ENSMUSG00000070972
AA Change: A62V

Domain	Start	End	E-Value	Type
signal peptide	1	37	N/A	INTRINSIC
DnaJ	47	113	4.18e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000152199

SMART Domains

Protein: ENSMUSP00000118048
Gene: ENSMUSG00000070972

Domain	Start	End	E-Value	Type
low complexity region	6	19	N/A	INTRINSIC
transmembrane domain	28	45	N/A	INTRINSIC
coiled coil region	76	101	N/A	INTRINSIC
transmembrane domain	122	144	N/A	INTRINSIC
low complexity region	194	212	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000153467
AA Change: A62V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000114320
Gene: ENSMUSG00000070972
AA Change: A62V

Domain	Start	End	E-Value	Type
signal peptide	1	37	N/A	INTRINSIC
DnaJ	47	113	1.12e-16	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000174664
AA Change: A62V

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000134530
Gene: ENSMUSG00000092345
AA Change: A62V

Domain	Start	End	E-Value	Type
signal peptide	1	37	N/A	INTRINSIC
DnaJ	47	113	3.9e-16	SMART
G_gamma	94	150	1.06e-6	SMART
GGL	94	150	1.05e-9	SMART

Meta Mutation Damage Score

0.0905

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.4%
20x: 92.8%

Validation Efficiency

100% (39/39)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtr1a	C	A	13: 30,565,901 (GRCm39)	P322Q	probably damaging	Het
Amh	AGCGCCTTGG	AG	10: 80,641,419 (GRCm39)		probably null	Het
Brd1	T	C	15: 88,585,014 (GRCm39)	E940G	probably benign	Het
Cd163	T	A	6: 124,302,209 (GRCm39)		probably benign	Het
Cd28	C	T	1: 60,802,303 (GRCm39)	T74I	possibly damaging	Het
Cntnap2	T	A	6: 46,460,902 (GRCm39)	M646K	probably benign	Het
Cyb5d1	C	T	11: 69,285,797 (GRCm39)		probably null	Het
D6Ertd527e	C	G	6: 87,088,506 (GRCm39)	T223S	unknown	Het
Dab2ip	T	C	2: 35,608,757 (GRCm39)		probably benign	Het
Dst	A	G	1: 34,250,235 (GRCm39)	D4063G	probably damaging	Het
Elmod1	T	C	9: 53,843,052 (GRCm39)	Y42C	probably damaging	Het
Hdac5	T	C	11: 102,096,332 (GRCm39)	I310V	probably damaging	Het
Hpx	A	G	7: 105,248,856 (GRCm39)		probably benign	Het
Ighv10-1	A	T	12: 114,443,015 (GRCm39)		probably benign	Het
Igsf3	A	G	3: 101,365,419 (GRCm39)	D1130G	probably benign	Het
Katnip	A	G	7: 125,465,654 (GRCm39)	R1343G	probably damaging	Het
Kdm4d	A	G	9: 14,374,395 (GRCm39)	S488P	probably benign	Het
Lingo2	A	G	4: 35,708,538 (GRCm39)	Y481H	probably damaging	Het
Ltbp1	A	G	17: 75,532,280 (GRCm39)	Q118R	possibly damaging	Het
Map3k20	C	T	2: 72,268,562 (GRCm39)	P523L	probably damaging	Het
Msx1	A	G	5: 37,978,625 (GRCm39)	Y297H	probably damaging	Het
Myo9a	A	G	9: 59,802,483 (GRCm39)	D1990G	probably damaging	Het
Niban2	T	C	2: 32,809,815 (GRCm39)	V304A	probably benign	Het
Perp	C	A	10: 18,731,483 (GRCm39)	Y147*	probably null	Het
Prr16	A	T	18: 51,435,755 (GRCm39)	D78V	probably damaging	Het
Rfx7	C	T	9: 72,525,228 (GRCm39)	T806M	probably damaging	Het
Robo2	T	C	16: 73,713,016 (GRCm39)		probably null	Het
Sema5b	A	T	16: 35,472,030 (GRCm39)	E496V	probably null	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Spdl1	T	C	11: 34,710,644 (GRCm39)	Y368C	probably damaging	Het
Sptbn2	G	C	19: 4,795,921 (GRCm39)	R1700P	possibly damaging	Het
Tenm2	C	T	11: 35,954,004 (GRCm39)	G1236R	possibly damaging	Het
Tln2	T	G	9: 67,165,848 (GRCm39)	K1000Q	probably damaging	Het
Tmbim7	A	G	5: 3,711,943 (GRCm39)	T63A	probably benign	Het
Tmed11	T	C	5: 108,926,885 (GRCm39)	D129G	possibly damaging	Het
Ttc28	G	A	5: 111,373,543 (GRCm39)	S962N	probably damaging	Het
Ttll6	T	C	11: 96,026,555 (GRCm39)	I113T	probably damaging	Het
Uso1	T	A	5: 92,318,606 (GRCm39)	F210L	probably damaging	Het
Uspl1	T	A	5: 149,131,131 (GRCm39)	V224E	probably benign	Het
Zfp639	G	A	3: 32,573,345 (GRCm39)	V86I	possibly damaging	Het

Other mutations in Dnajc25

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02102:Dnajc25	APN	4	59,017,693 (GRCm39)	nonsense	probably null
R0505:Dnajc25	UTSW	4	59,020,438 (GRCm39)	missense
R2437:Dnajc25	UTSW	4	59,020,234 (GRCm39)	missense	probably damaging	1.00
R5689:Dnajc25	UTSW	4	59,017,716 (GRCm39)	missense	probably damaging	0.99
R6023:Dnajc25	UTSW	4	59,013,752 (GRCm39)	missense	possibly damaging	0.53
R6329:Dnajc25	UTSW	4	59,013,678 (GRCm39)	missense	probably benign	0.33
R7316:Dnajc25	UTSW	4	59,017,693 (GRCm39)	nonsense	probably null
R7398:Dnajc25	UTSW	4	59,017,824 (GRCm39)	critical splice donor site	probably null
R7652:Dnajc25	UTSW	4	59,020,483 (GRCm39)	missense	probably benign	0.01
R7667:Dnajc25	UTSW	4	59,020,356 (GRCm39)	missense	probably damaging	1.00
R8679:Dnajc25	UTSW	4	59,020,195 (GRCm39)	missense	possibly damaging	0.87
R8961:Dnajc25	UTSW	4	59,020,438 (GRCm39)	missense
R9020:Dnajc25	UTSW	4	59,003,470 (GRCm39)	nonsense	probably null
R9372:Dnajc25	UTSW	4	59,003,394 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGACCGCTGAGCTACTAAGACTACC -3'
(R):5'- GTGGGAAACGTGGACCTCCTAAAAG -3'

Sequencing Primer
(F):5'- AGGCTAAGGCGTCCTTCTC -3'
(R):5'- GTGGACCTCCTAAAAGTCCAGG -3'

Posted On

2014-10-28