Mutagenetix > Incidental Mutation

Incidental Mutation 'R5881:Desi2'

490498

Institutional Source

Beutler Lab

Gene Symbol

Desi2

Ensembl Gene

ENSMUSG00000026502

Gene Name

desumoylating isopeptidase 2

Synonyms

Pppde1, Fam152a, 5830417C01Rik

MMRRC Submission

044085-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R5881 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

178014983-178080164 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 178065479 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 15 (Y15C)

Ref Sequence

ENSEMBL: ENSMUSP00000027783 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027783] [ENSMUST00000159284] [ENSMUST00000161075]

AlphaFold

Q9D291

Predicted Effect

probably damaging
Transcript: ENSMUST00000027783
AA Change: Y15C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000027783
Gene: ENSMUSG00000026502
AA Change: Y15C

Domain	Start	End	E-Value	Type
DUF862	5	150	1.92e-59	SMART
low complexity region	160	184	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159284

SMART Domains

Protein: ENSMUSP00000123860
Gene: ENSMUSG00000026502

Domain	Start	End	E-Value	Type
DUF862	1	134	3.39e-46	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000161075

SMART Domains

Protein: ENSMUSP00000124658
Gene: ENSMUSG00000026502

Domain	Start	End	E-Value	Type
DUF862	1	134	3.39e-46	SMART
low complexity region	144	168	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.3%
10x: 94.5%
20x: 78.4%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out mouse exhibit normal body size, body weight, brain size, brain weight and neuron apoptosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3	A	C	11: 95,725,213 (GRCm39)	L159W	probably damaging	Het
Abi3	A	T	11: 95,725,214 (GRCm39)	L159M	probably damaging	Het
Adam11	A	C	11: 102,664,636 (GRCm39)	I406L	probably benign	Het
Ager	G	T	17: 34,819,051 (GRCm39)	V300L	probably damaging	Het
Ank3	C	T	10: 69,822,660 (GRCm39)	S1726L	probably benign	Het
Boc	A	G	16: 44,311,014 (GRCm39)	I740T	probably damaging	Het
C8a	T	A	4: 104,711,129 (GRCm39)	D178V	probably damaging	Het
Ces3a	G	A	8: 105,777,198 (GRCm39)	V174M	probably damaging	Het
Cisd1	A	T	10: 71,172,244 (GRCm39)	W13R	probably damaging	Het
Commd8	A	T	5: 72,320,107 (GRCm39)	D111E	probably benign	Het
Ddx60	A	T	8: 62,490,104 (GRCm39)	D1691V	probably damaging	Het
Dnmt1	A	G	9: 20,864,013 (GRCm39)	V24A	probably damaging	Het
Dock10	G	A	1: 80,538,640 (GRCm39)	T968M	probably benign	Het
Dsel	A	T	1: 111,787,168 (GRCm39)	F1122L	probably damaging	Het
Eml3	T	C	19: 8,910,807 (GRCm39)	F220L	probably damaging	Het
Entpd2	A	C	2: 25,290,824 (GRCm39)	N443H	probably damaging	Het
Epgn	A	G	5: 91,176,222 (GRCm39)	N36S	probably benign	Het
Fsip2	G	T	2: 82,814,785 (GRCm39)	S3506I	possibly damaging	Het
Gprin3	T	C	6: 59,331,771 (GRCm39)	S179G	probably benign	Het
Grifin	G	T	5: 140,549,342 (GRCm39)	H125N	possibly damaging	Het
H1f9	A	G	11: 94,858,989 (GRCm39)	T95A	possibly damaging	Het
Hmcn1	A	G	1: 150,506,078 (GRCm39)	V3816A	probably damaging	Het
Hspa14	A	G	2: 3,499,207 (GRCm39)	F196L	probably benign	Het
Ice1	T	C	13: 70,754,620 (GRCm39)	K489E	probably benign	Het
Jmjd6	C	T	11: 116,730,682 (GRCm39)	W117*	probably null	Het
Lrit2	G	T	14: 36,794,192 (GRCm39)	A419S	probably benign	Het
Mc3r	T	C	2: 172,091,092 (GRCm39)	S105P	probably benign	Het
Mccc1	A	G	3: 36,018,531 (GRCm39)	V601A	probably benign	Het
Myo1f	A	G	17: 33,795,627 (GRCm39)	D91G	probably damaging	Het
Myo1f	G	A	17: 33,799,259 (GRCm39)	E255K	possibly damaging	Het
Necap1	T	A	6: 122,858,503 (GRCm39)	D115E	probably benign	Het
Or4b12	A	T	2: 90,096,786 (GRCm39)		probably null	Het
Or4k15b	G	A	14: 50,272,444 (GRCm39)	R139C	probably benign	Het
Or51b6	T	A	7: 103,555,883 (GRCm39)	M79K	probably damaging	Het
Papln	A	G	12: 83,818,652 (GRCm39)	E78G	probably null	Het
Phldb3	T	C	7: 24,326,147 (GRCm39)		probably null	Het
Pkd1l2	A	G	8: 117,724,321 (GRCm39)	I2394T	probably damaging	Het
Ppa2	A	T	3: 133,036,200 (GRCm39)	N118I	probably damaging	Het
Ppef2	A	T	5: 92,398,388 (GRCm39)	C43*	probably null	Het
Pramel51	A	G	12: 88,143,111 (GRCm39)	L169P	probably damaging	Het
Rab27a	G	A	9: 72,992,321 (GRCm39)		probably null	Het
Rabgap1l	A	T	1: 160,169,683 (GRCm39)	F47I	probably damaging	Het
Rala	A	G	13: 18,067,746 (GRCm39)	I95T	probably damaging	Het
Rgl2	A	G	17: 34,151,691 (GRCm39)	D245G	probably benign	Het
Rnf34	A	T	5: 123,002,146 (GRCm39)	T35S	probably damaging	Het
Ros1	C	T	10: 52,057,894 (GRCm39)	R51Q	probably benign	Het
Samd9l	T	C	6: 3,372,716 (GRCm39)	D1515G	possibly damaging	Het
Scn7a	T	C	2: 66,505,870 (GRCm39)	E1673G	probably benign	Het
Slc6a20a	A	C	9: 123,470,773 (GRCm39)		probably null	Het
Tdrd5	A	T	1: 156,122,070 (GRCm39)	S280T	probably damaging	Het
Tent2	A	T	13: 93,312,246 (GRCm39)	C180*	probably null	Het
Tie1	T	C	4: 118,332,800 (GRCm39)	I911V	possibly damaging	Het
Vipas39	G	A	12: 87,298,581 (GRCm39)	R194*	probably null	Het
Ybx3	A	C	6: 131,345,451 (GRCm39)	N307K	possibly damaging	Het
Ylpm1	A	T	12: 85,088,899 (GRCm39)	H1216L	probably damaging	Het

Other mutations in Desi2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02659:Desi2	APN	1	178,076,843 (GRCm39)	missense	probably damaging	1.00
R0416:Desi2	UTSW	1	178,083,887 (GRCm39)	utr 3 prime	probably benign
R0627:Desi2	UTSW	1	178,076,918 (GRCm39)	missense	possibly damaging	0.66
R1732:Desi2	UTSW	1	178,084,217 (GRCm39)	utr 3 prime	probably benign
R3116:Desi2	UTSW	1	178,072,008 (GRCm39)	missense	probably damaging	0.98
R5301:Desi2	UTSW	1	178,071,952 (GRCm39)	missense	probably benign	0.35
R5770:Desi2	UTSW	1	178,084,061 (GRCm39)	utr 3 prime	probably benign
R6104:Desi2	UTSW	1	178,077,018 (GRCm39)	missense	probably benign
R6641:Desi2	UTSW	1	178,071,943 (GRCm39)	missense	possibly damaging	0.96
R7289:Desi2	UTSW	1	178,083,702 (GRCm39)	start gained	probably benign
R7359:Desi2	UTSW	1	178,015,509 (GRCm39)	missense	probably benign	0.01
R7431:Desi2	UTSW	1	178,084,007 (GRCm39)	nonsense	probably null
R8053:Desi2	UTSW	1	178,065,482 (GRCm39)	nonsense	probably null
R8348:Desi2	UTSW	1	178,083,906 (GRCm39)	utr 3 prime	probably benign
R9515:Desi2	UTSW	1	178,084,170 (GRCm39)	missense	unknown
R9518:Desi2	UTSW	1	178,015,492 (GRCm39)	missense	probably benign
Z1088:Desi2	UTSW	1	178,015,510 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTGTCTATACACAGGAAAGCCTTCC -3'
(R):5'- TGGAACAAATGTATGCTACCACAG -3'

Sequencing Primer
(F):5'- AAGCCTTCCAAGTTAGATGTGG -3'
(R):5'- GCTACCACAGACAGTTTTTGAAACAG -3'

Posted On

2017-10-20