Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01511:Desi1'

89225

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Desi1

Ensembl Gene

ENSMUSG00000022472

Gene Name

desumoylating isopeptidase 1

Synonyms

Pppde2, Fam152b, D15Wsu75e

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.224) question?

Stock #

IGL01511

Quality Score

Status

Chromosome

Chromosomal Location

81992523-82033862 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 82002588 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 45 (K45*)

Ref Sequence

ENSEMBL: ENSMUSP00000121504 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023110] [ENSMUST00000089187] [ENSMUST00000135988] [ENSMUST00000146628] [ENSMUST00000152227] [ENSMUST00000165777]

AlphaFold

Q9CQT7

PDB Structure

Crystal structure of deSUMOylase(DUF862) [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023110
AA Change: Q56L

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000023110
Gene: ENSMUSG00000022472
AA Change: Q56L

Domain	Start	End	E-Value	Type
PDB:2WP7\|A	1	30	2e-14	PDB
Blast:DUF862	7	56	3e-10	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000089187

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129039

Predicted Effect

probably null
Transcript: ENSMUST00000135988
AA Change: K45*

SMART Domains

Protein: ENSMUSP00000117613
Gene: ENSMUSG00000022472
AA Change: K45*

Domain	Start	End	E-Value	Type
DUF862	7	106	5.05e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000146628

SMART Domains

Protein: ENSMUSP00000114888
Gene: ENSMUSG00000022472

Domain	Start	End	E-Value	Type
PDB:3EBQ\|A	1	84	9e-22	PDB
Blast:DUF862	7	84	6e-16	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000152227
AA Change: K45*

SMART Domains

Protein: ENSMUSP00000121504
Gene: ENSMUSG00000022472
AA Change: K45*

Domain	Start	End	E-Value	Type
DUF862	7	150	1.68e-59	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000165777

SMART Domains

Protein: ENSMUSP00000131212
Gene: ENSMUSG00000022471

Domain	Start	End	E-Value	Type
low complexity region	11	20	N/A	INTRINSIC
Pfam:Ku_N	35	106	7.6e-27	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,244,310	D216E	probably benign	Het
Abcc4	C	A	14: 118,599,341	L669F	probably benign	Het
Adam29	C	T	8: 55,871,421	G666D	probably damaging	Het
Adat2	T	G	10: 13,560,238	M109R	probably null	Het
Atf3	T	A	1: 191,171,496	T178S	probably benign	Het
Birc6	T	A	17: 74,627,003	Y2522*	probably null	Het
Ccr8	G	A	9: 120,094,625	G269R	probably damaging	Het
Ces1a	G	T	8: 93,045,098	P24T	probably damaging	Het
Chrna4	C	T	2: 181,028,668	V432I	probably benign	Het
Commd8	A	G	5: 72,165,379	V65A	probably benign	Het
Cyp2j13	A	G	4: 96,077,315	F52L	possibly damaging	Het
Dmbt1	T	A	7: 131,116,728	M1552K	possibly damaging	Het
Dna2	G	A	10: 62,955,314	M197I	possibly damaging	Het
Dnah7a	A	C	1: 53,419,595	L3795V	probably damaging	Het
Fam221b	T	C	4: 43,660,135		probably null	Het
Fbxw18	A	T	9: 109,688,821	S366T	possibly damaging	Het
Fzd8	A	G	18: 9,213,293	Y125C	unknown	Het
Gcsam	T	C	16: 45,615,952	Y11H	probably damaging	Het
Gucy2f	G	T	X: 142,161,734	D410E	probably damaging	Het
Hdac3	C	T	18: 37,952,595	A53T	probably benign	Het
Lamp2	A	G	X: 38,431,875	L244P	probably damaging	Het
Lrrk1	A	T	7: 66,265,450	F1630Y	possibly damaging	Het
M1ap	C	A	6: 83,028,412	D434E	probably benign	Het
Mcmbp	A	G	7: 128,707,164	Y378H	probably damaging	Het
Mvb12a	T	A	8: 71,545,302	V120E	probably damaging	Het
Nbeal2	A	C	9: 110,629,234	W2063G	probably damaging	Het
Neto1	A	C	18: 86,395,908	H9P	possibly damaging	Het
Nmu	C	T	5: 76,340,821	V126M	probably damaging	Het
Odf2	T	C	2: 29,914,309		probably benign	Het
Olfr1387	A	G	11: 49,460,216	E179G	probably damaging	Het
Pdzrn3	T	C	6: 101,153,256	H533R	possibly damaging	Het
Pikfyve	G	T	1: 65,258,869	E1586*	probably null	Het
Plcb3	C	A	19: 6,955,843	R970L	probably damaging	Het
Plxna3	A	G	X: 74,335,308	E686G	probably damaging	Het
Polrmt	T	A	10: 79,740,151	Y586F	probably benign	Het
Ppt1	T	A	4: 122,854,425	F225I	probably damaging	Het
Prcc	T	G	3: 87,872,241	D162A	probably damaging	Het
Ripor1	T	C	8: 105,619,930		probably benign	Het
Rnaseh1	A	G	12: 28,659,009	H263R	probably damaging	Het
Rnf19b	T	A	4: 129,080,418	S490R	probably damaging	Het
Slc15a2	T	A	16: 36,784,726	T23S	probably damaging	Het
Slc17a2	T	C	13: 23,819,138		probably null	Het
Slc35f4	T	C	14: 49,298,877	M434V	probably benign	Het
Slc52a3	C	T	2: 152,004,644	T175I	probably benign	Het
Slc5a2	C	T	7: 128,270,622	T409M	probably benign	Het
Tbc1d24	A	G	17: 24,181,918	S108P	probably benign	Het
Thnsl2	T	G	6: 71,139,793	Q125P	probably benign	Het
Ttc13	T	C	8: 124,676,371	D672G	probably damaging	Het
Ttn	G	T	2: 76,753,745	H14013N	possibly damaging	Het
Unc5a	T	C	13: 55,004,816	F792L	probably damaging	Het
Vac14	T	C	8: 110,712,798	V669A	possibly damaging	Het
Vmn1r13	A	T	6: 57,210,329	M158L	probably benign	Het
Vmn1r220	A	T	13: 23,184,214	V104D	probably damaging	Het
Wdr78	T	C	4: 103,048,361	D741G	possibly damaging	Het
Zfp738	A	T	13: 67,683,401		probably null	Het
Zscan5b	A	C	7: 6,231,422	H149P	probably benign	Het

Other mutations in Desi1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03275:Desi1	APN	15	82003762	missense	probably damaging	1.00
R0617:Desi1	UTSW	15	81998198	missense	probably damaging	1.00
R3196:Desi1	UTSW	15	82003775	missense	probably damaging	1.00

Posted On

2013-12-03