Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01662:Otulinl'

103211

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Otulinl

Ensembl Gene

ENSMUSG00000056069

Gene Name

OTU deubiquitinase with linear linkage specificity like

Synonyms

Fam105a

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

IGL01662

Quality Score

Status

Chromosome

Chromosomal Location

27655154-27681630 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 27658151 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 290 (D290N)

Ref Sequence

ENSEMBL: ENSMUSP00000153902 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100739] [ENSMUST00000226145] [ENSMUST00000226170] [ENSMUST00000226581]

AlphaFold

Q3TVP5

Predicted Effect

probably damaging
Transcript: ENSMUST00000100739
AA Change: D240N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000098305
Gene: ENSMUSG00000056069
AA Change: D240N

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
Pfam:Peptidase_C101	85	114	4e-10	PFAM
Pfam:Peptidase_C101	112	302	1.1e-79	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000226145
AA Change: D290N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000226170
AA Change: D290N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000226581
AA Change: D120N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000231473

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232492

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm5	A	T	7: 119,137,511 (GRCm39)	I402F	probably damaging	Het
Acvr2b	T	C	9: 119,261,570 (GRCm39)	Y388H	probably damaging	Het
Adh1	G	A	3: 137,988,512 (GRCm39)	D162N	possibly damaging	Het
C6	G	T	15: 4,822,236 (GRCm39)	R585I	probably damaging	Het
Ccdc169	T	A	3: 55,070,732 (GRCm39)		probably null	Het
Cdh13	T	A	8: 119,401,916 (GRCm39)	M106K	probably damaging	Het
Cep78	C	T	19: 15,938,359 (GRCm39)	E530K	probably damaging	Het
Cyfip1	T	A	7: 55,546,487 (GRCm39)	L533Q	probably damaging	Het
Etl4	T	C	2: 20,811,460 (GRCm39)	V1181A	probably benign	Het
Galnt7	T	G	8: 57,984,769 (GRCm39)		probably benign	Het
Gm11595	G	A	11: 99,663,498 (GRCm39)	R61C	unknown	Het
Gucy1a1	T	A	3: 82,016,560 (GRCm39)	I143F	possibly damaging	Het
Hmcn1	T	C	1: 150,613,050 (GRCm39)	N1410D	possibly damaging	Het
Ltbp2	G	A	12: 84,856,020 (GRCm39)	T741I	probably benign	Het
Mdc1	T	C	17: 36,163,397 (GRCm39)	S982P	probably benign	Het
Mfsd4b2	A	G	10: 39,798,193 (GRCm39)		probably benign	Het
Mrgprb5	T	G	7: 47,818,172 (GRCm39)	I188L	probably benign	Het
Naip6	T	A	13: 100,436,862 (GRCm39)	S554C	probably damaging	Het
Nav2	A	G	7: 49,220,957 (GRCm39)	N1715D	probably damaging	Het
Nav3	A	T	10: 109,605,119 (GRCm39)	S985T	possibly damaging	Het
Nme7	A	G	1: 164,155,866 (GRCm39)	Q22R	probably benign	Het
Or52i2	T	C	7: 102,319,927 (GRCm39)	W267R	probably damaging	Het
Pabir1	A	G	19: 24,453,948 (GRCm39)	V258A	probably benign	Het
Ppp1r9a	A	G	6: 5,115,322 (GRCm39)	E815G	probably damaging	Het
Ppp2r2c	T	A	5: 37,083,744 (GRCm39)	I95N	probably damaging	Het
Ppp4r4	G	A	12: 103,569,225 (GRCm39)	E717K	possibly damaging	Het
Prdm2	A	G	4: 142,860,138 (GRCm39)	S1051P	possibly damaging	Het
Rnf214	T	C	9: 45,811,084 (GRCm39)	D193G	probably damaging	Het
Sirpb1b	G	T	3: 15,608,244 (GRCm39)	T167K	probably damaging	Het
Slc16a3	C	A	11: 120,847,532 (GRCm39)	S240*	probably null	Het
Snx14	T	A	9: 88,267,891 (GRCm39)		probably benign	Het
Sorbs2	A	G	8: 46,256,866 (GRCm39)		probably benign	Het
Stk-ps2	A	T	1: 46,068,522 (GRCm39)		noncoding transcript	Het
Taar7b	A	T	10: 23,875,874 (GRCm39)	D13V	probably benign	Het
Trp53bp1	T	C	2: 121,066,506 (GRCm39)	E740G	probably damaging	Het
Unc79	C	T	12: 103,115,279 (GRCm39)	A2054V	possibly damaging	Het
Zfp106	A	G	2: 120,354,034 (GRCm39)	V211A	probably benign	Het
Zfp112	A	G	7: 23,825,379 (GRCm39)	H449R	probably benign	Het

Other mutations in Otulinl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Otulinl	APN	15	27,658,202 (GRCm39)	missense	possibly damaging	0.93
IGL02991:Otulinl	UTSW	15	27,658,388 (GRCm39)	missense	possibly damaging	0.88
R0349:Otulinl	UTSW	15	27,664,876 (GRCm39)	missense	probably benign	0.01
R0726:Otulinl	UTSW	15	27,657,033 (GRCm39)	missense	probably damaging	1.00
R1054:Otulinl	UTSW	15	27,664,635 (GRCm39)	missense	probably damaging	1.00
R1201:Otulinl	UTSW	15	27,658,259 (GRCm39)	nonsense	probably null
R3001:Otulinl	UTSW	15	27,664,792 (GRCm39)	missense	probably benign	0.00
R3002:Otulinl	UTSW	15	27,664,792 (GRCm39)	missense	probably benign	0.00
R4362:Otulinl	UTSW	15	27,664,429 (GRCm39)	critical splice donor site	probably null
R4363:Otulinl	UTSW	15	27,664,429 (GRCm39)	critical splice donor site	probably null
R5340:Otulinl	UTSW	15	27,658,175 (GRCm39)	missense	possibly damaging	0.75
R5364:Otulinl	UTSW	15	27,660,031 (GRCm39)	nonsense	probably null
R5920:Otulinl	UTSW	15	27,664,442 (GRCm39)	missense	possibly damaging	0.58
R7044:Otulinl	UTSW	15	27,657,321 (GRCm39)	intron	probably benign
R7175:Otulinl	UTSW	15	27,658,374 (GRCm39)	missense	probably damaging	1.00
R7229:Otulinl	UTSW	15	27,658,273 (GRCm39)	missense	probably benign	0.35
R7305:Otulinl	UTSW	15	27,658,319 (GRCm39)	missense	probably benign	0.07
R8346:Otulinl	UTSW	15	27,664,644 (GRCm39)	missense	probably damaging	1.00
R8432:Otulinl	UTSW	15	27,664,818 (GRCm39)	missense	possibly damaging	0.59
R8878:Otulinl	UTSW	15	27,664,884 (GRCm39)	missense	probably benign	0.23
X0025:Otulinl	UTSW	15	27,660,028 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-01-21