Mutagenetix > Incidental Mutation

Incidental Mutation 'R5340:Otulinl'

422293

Institutional Source

Beutler Lab

Gene Symbol

Otulinl

Ensembl Gene

ENSMUSG00000056069

Gene Name

OTU deubiquitinase with linear linkage specificity like

Synonyms

Fam105a

MMRRC Submission

042919-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R5340 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

27655154-27681630 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 27658175 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 282 (M282V)

Ref Sequence

ENSEMBL: ENSMUSP00000153902 (fasta)

Gene Model

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

AlphaFold

Q3TVP5

Predicted Effect

probably benign
Transcript: ENSMUST00000100739
AA Change: M232V

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000098305
Gene: ENSMUSG00000056069
AA Change: M232V

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 benign
Transcript: ENSMUST00000226145
AA Change: M282V

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000226170
AA Change: M282V

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

probably benign
Transcript: ENSMUST00000226581
AA Change: M112V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

probably benign
Transcript: ENSMUST00000231473

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232492

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.7%
20x: 96.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aqp7	T	C	4: 41,034,347 (GRCm39)	R271G	probably benign	Het
Atp4a	A	G	7: 30,420,231 (GRCm39)	I793V	probably benign	Het
Baz2a	C	T	10: 127,950,911 (GRCm39)	R535C	probably damaging	Het
BC034090	T	C	1: 155,102,160 (GRCm39)	T35A	possibly damaging	Het
Bnip1	T	C	17: 27,005,764 (GRCm39)		probably null	Het
Ccdc136	A	G	6: 29,411,859 (GRCm39)	S369G	possibly damaging	Het
Csrnp3	A	G	2: 65,852,781 (GRCm39)	D391G	probably benign	Het
Ctbp2	G	T	7: 132,615,692 (GRCm39)	H414Q	probably benign	Het
Dnah6	A	G	6: 73,189,603 (GRCm39)	I15T	probably benign	Het
Dync2li1	A	G	17: 84,957,130 (GRCm39)		probably null	Het
Eri3	A	T	4: 117,530,991 (GRCm39)	I329F	probably damaging	Het
Flii	T	A	11: 60,608,094 (GRCm39)	I786F	probably damaging	Het
Fmo1	A	T	1: 162,657,551 (GRCm39)	I530N	probably benign	Het
Gm28042	T	C	2: 119,871,929 (GRCm39)	S960P	probably benign	Het
Gzmm	C	A	10: 79,530,907 (GRCm39)	F236L	probably benign	Het
H2bl1	C	T	13: 99,120,951 (GRCm39)	R25H	possibly damaging	Het
Igkv4-55	A	G	6: 69,584,489 (GRCm39)	V41A	probably damaging	Het
Ipo9	A	G	1: 135,313,170 (GRCm39)	Y1020H	probably benign	Het
Masp1	T	C	16: 23,276,858 (GRCm39)	Y549C	probably damaging	Het
Mblac1	A	T	5: 138,192,840 (GRCm39)	S61C	probably damaging	Het
Mical1	T	A	10: 41,359,427 (GRCm39)		probably null	Het
Mroh9	C	T	1: 162,908,156 (GRCm39)		probably benign	Het
Mta2	T	C	19: 8,919,720 (GRCm39)	M1T	probably null	Het
Neb	A	G	2: 52,113,060 (GRCm39)	Y4245H	probably damaging	Het
Or11j4	T	C	14: 50,630,677 (GRCm39)	F155L	probably damaging	Het
Or4c52	T	C	2: 89,845,706 (GRCm39)	V144A	probably benign	Het
Pak2	G	T	16: 31,853,764 (GRCm39)		probably null	Het
Phc3	A	T	3: 30,961,616 (GRCm39)	F939I	probably damaging	Het
Prss3l	T	C	6: 41,422,307 (GRCm39)	N33D	probably benign	Het
Rogdi	C	A	16: 4,831,225 (GRCm39)	R14L	probably benign	Het
Ryr3	T	C	2: 112,664,470 (GRCm39)	Y1627C	probably damaging	Het
Scrn3	A	T	2: 73,166,154 (GRCm39)	K396*	probably null	Het
Sh3pxd2a	T	C	19: 47,256,670 (GRCm39)	N683D	probably benign	Het
Smtnl1	T	A	2: 84,645,785 (GRCm39)	H362L	probably damaging	Het
Sned1	A	G	1: 93,210,479 (GRCm39)	S927G	probably benign	Het
Tcaf1	A	G	6: 42,655,923 (GRCm39)	V351A	probably damaging	Het
Tmem232	C	T	17: 65,709,993 (GRCm39)	V432M	possibly damaging	Het
Ttll11	G	T	2: 35,792,801 (GRCm39)	H347Q	probably damaging	Het
Vmn2r56	A	C	7: 12,449,799 (GRCm39)	D146E	probably damaging	Het
Wwp1	A	G	4: 19,638,773 (GRCm39)		probably null	Het
Zcchc7	T	A	4: 44,762,245 (GRCm39)	N124K	probably benign	Het
Zfp667	A	G	7: 6,308,252 (GRCm39)	T307A	possibly damaging	Het
Zfp709	T	A	8: 72,643,596 (GRCm39)	C342S	probably damaging	Het
Zfp940	A	G	7: 29,544,266 (GRCm39)	V547A	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
IGL01662:Otulinl	APN	15	27,658,151 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TTCTTTCACACATGGAGGGC -3'
(R):5'- TAGTGGGATGAGAGATCACCAC -3'

Sequencing Primer
(F):5'- GGCCAGCAATTTTAGCTAGC -3'
(R):5'- GGAGCATGTGTAACAGCCTCTTC -3'

Posted On

2016-08-04