Mutagenetix > Incidental Mutation

Incidental Mutation 'R0363:Otulin'

30203

Institutional Source

Beutler Lab

Gene Symbol

Otulin

Ensembl Gene

ENSMUSG00000046034

Gene Name

OTU deubiquitinase with linear linkage specificity

Synonyms

Fam105b, m7-1Sapc, m3Sapc, gumby

MMRRC Submission

038569-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0363 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27606005-27630793 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27606381 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 344 (V344A)

Ref Sequence

ENSEMBL: ENSMUSP00000057893 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059662] [ENSMUST00000228179] [ENSMUST00000228439]

AlphaFold

Q3UCV8

Predicted Effect

probably damaging
Transcript: ENSMUST00000059662
AA Change: V344A

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

SMART Domains

Protein: ENSMUSP00000057893
Gene: ENSMUSG00000046034
AA Change: V344A

Domain	Start	End	E-Value	Type
low complexity region	18	33	N/A	INTRINSIC
low complexity region	61	70	N/A	INTRINSIC
Pfam:Peptidase_C101	80	344	4.7e-129	PFAM
Pfam:Peptidase_C65	96	344	1.1e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000228179

Predicted Effect

probably benign
Transcript: ENSMUST00000228439

Meta Mutation Damage Score

0.2153

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.7%
20x: 86.5%

Validation Efficiency

98% (78/80)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the peptidase C65 family of ubiquitin isopeptidases. Members of this family remove ubiquitin from proteins. The encoded enzyme specifically recognizes and removes M1(Met1)-linked, or linear, ubiquitin chains from protein substrates. Linear ubiquitin chains are known to regulate the NF-kappa B signaling pathway in the context of immunity and inflammation. Mutations in this gene cause a potentially fatal autoinflammatory syndrome in human patients. [provided by RefSeq, Sep 2016]
PHENOTYPE: Embryos homozygous for an ENU-induced mutation exhibit micrognathia, microcephaly, paucity of blood, and abnormal facial and vestibulocochlear nerve morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522H14Rik	T	A	4: 109,381,520 (GRCm39)	Q86L	probably null	Het
Abhd2	A	G	7: 79,000,561 (GRCm39)	D262G	possibly damaging	Het
Abhd5	T	C	9: 122,197,211 (GRCm39)	F133L	possibly damaging	Het
Agap2	T	A	10: 126,926,834 (GRCm39)	V957E	probably damaging	Het
Ankrd12	T	C	17: 66,292,676 (GRCm39)	K919R	probably damaging	Het
Ap1m1	T	C	8: 73,006,738 (GRCm39)	S245P	probably benign	Het
Ap1m1	T	C	8: 73,010,568 (GRCm39)		probably benign	Het
Apcdd1	A	G	18: 63,070,168 (GRCm39)	Y145C	possibly damaging	Het
Apob	A	T	12: 8,060,136 (GRCm39)	N2840Y	probably damaging	Het
Arel1	A	G	12: 84,981,027 (GRCm39)	S327P	probably damaging	Het
Arhgap21	C	A	2: 20,885,944 (GRCm39)	R421L	probably damaging	Het
Ccdc85a	A	T	11: 28,533,400 (GRCm39)	I48N	probably damaging	Het
Chd6	A	G	2: 160,856,244 (GRCm39)	S672P	probably damaging	Het
Ciz1	G	C	2: 32,267,375 (GRCm39)		probably null	Het
Cmbl	G	A	15: 31,585,588 (GRCm39)		probably null	Het
Cmya5	A	G	13: 93,231,377 (GRCm39)	V1237A	possibly damaging	Het
Cntnap4	A	T	8: 113,583,143 (GRCm39)	K1074*	probably null	Het
Cntnap5b	A	G	1: 100,202,193 (GRCm39)	M347V	probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Cuzd1	A	T	7: 130,917,991 (GRCm39)	M203K	probably benign	Het
Cyp3a16	T	C	5: 145,392,689 (GRCm39)		probably benign	Het
Dlgap3	A	G	4: 127,129,314 (GRCm39)	E892G	probably damaging	Het
Dnah7b	T	C	1: 46,275,948 (GRCm39)	S2612P	probably damaging	Het
Epas1	T	G	17: 87,113,276 (GRCm39)		probably benign	Het
Etv5	G	A	16: 22,230,458 (GRCm39)	A192V	probably benign	Het
Fa2h	T	A	8: 112,075,921 (GRCm39)	H234L	probably damaging	Het
Fcho1	T	C	8: 72,170,134 (GRCm39)	Y47C	probably damaging	Het
Flvcr1	T	A	1: 190,744,451 (GRCm39)		probably benign	Het
Il1rl1	CTTGTTGTTGTTGTTGTTG	CTTGTTGTTGTTGTTGTTGTTG	1: 40,481,734 (GRCm39)		probably benign	Het
Ino80	G	A	2: 119,213,441 (GRCm39)	R1249C	probably damaging	Het
Inpp4b	T	C	8: 82,610,886 (GRCm39)		probably benign	Het
Isy1	G	A	6: 87,796,167 (GRCm39)	R257W	probably damaging	Het
Kmt2a	A	G	9: 44,721,010 (GRCm39)		probably null	Het
Krt4	G	A	15: 101,833,081 (GRCm39)	R9C	possibly damaging	Het
Map1a	T	C	2: 121,132,525 (GRCm39)	S876P	probably damaging	Het
Mettl21e	A	G	1: 44,250,190 (GRCm39)		probably null	Het
Msh2	C	T	17: 88,024,904 (GRCm39)	T594M	probably benign	Het
Mtmr3	A	G	11: 4,437,536 (GRCm39)	S973P	probably damaging	Het
Muc5ac	A	T	7: 141,354,697 (GRCm39)	M889L	probably benign	Het
Ntn1	A	G	11: 68,276,369 (GRCm39)	I193T	probably benign	Het
Nudt13	A	T	14: 20,359,851 (GRCm39)	I193F	probably damaging	Het
Or2n1	A	G	17: 38,486,338 (GRCm39)	D121G	probably damaging	Het
Or3a1	C	T	11: 74,225,925 (GRCm39)	G44D	probably damaging	Het
Or4b1b	A	T	2: 90,112,200 (GRCm39)	S240T	probably damaging	Het
Or5p73	A	T	7: 108,064,941 (GRCm39)	T137S	possibly damaging	Het
P2rx7	C	T	5: 122,795,093 (GRCm39)	Q128*	probably null	Het
Pcdhb22	G	A	18: 37,652,213 (GRCm39)	R227H	probably benign	Het
Plekha5	G	A	6: 140,537,473 (GRCm39)	R646K	possibly damaging	Het
Pltp	C	T	2: 164,682,056 (GRCm39)	R394H	probably benign	Het
Ppip5k1	C	G	2: 121,177,836 (GRCm39)	A324P	probably damaging	Het
Pramel14	C	T	4: 143,718,221 (GRCm39)	M407I	probably benign	Het
Prdm13	A	C	4: 21,679,737 (GRCm39)	V251G	unknown	Het
Prkg1	T	C	19: 31,641,596 (GRCm39)	E29G	probably damaging	Het
Prrc2c	A	G	1: 162,525,380 (GRCm39)	S409P	unknown	Het
Rp1	T	A	1: 4,417,941 (GRCm39)	D1057V	probably damaging	Het
Rttn	G	A	18: 89,029,079 (GRCm39)	C599Y	probably damaging	Het
Shisa6	C	T	11: 66,416,153 (GRCm39)	R213Q	probably benign	Het
Slc3a1	T	C	17: 85,340,273 (GRCm39)	Y232H	probably damaging	Het
Slx4	G	A	16: 3,797,953 (GRCm39)	A1477V	probably damaging	Het
Ssrp1	T	G	2: 84,871,018 (GRCm39)	I218S	probably damaging	Het
St6galnac1	A	C	11: 116,659,756 (GRCm39)	S186A	probably benign	Het
Stab1	A	G	14: 30,880,965 (GRCm39)		probably benign	Het
Sycp2	T	C	2: 177,988,204 (GRCm39)		probably benign	Het
Syne2	T	A	12: 76,118,981 (GRCm39)	I5867N	probably damaging	Het
Taar7f	T	A	10: 23,925,839 (GRCm39)	D144E	probably damaging	Het
Tlcd5	A	T	9: 43,023,048 (GRCm39)	M84K	probably damaging	Het
Tmem87b	T	A	2: 128,673,153 (GRCm39)	S196T	probably damaging	Het
Tnfrsf21	A	G	17: 43,348,768 (GRCm39)	T127A	probably benign	Het
Trp73	A	G	4: 154,148,406 (GRCm39)	I336T	probably benign	Het
Ttl	A	G	2: 128,917,981 (GRCm39)	I148V	probably damaging	Het
Ttll7	T	C	3: 146,649,970 (GRCm39)	Y667H	probably benign	Het
Ubr4	A	G	4: 139,119,171 (GRCm39)	T152A	probably damaging	Het
Vmn1r58	A	T	7: 5,413,636 (GRCm39)	V198E	probably damaging	Het
Vps52	T	A	17: 34,181,091 (GRCm39)	F376L	probably benign	Het
Zfp1007	T	C	5: 109,824,754 (GRCm39)	E232G	probably benign	Het

Other mutations in Otulin

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02121:Otulin	APN	15	27,608,823 (GRCm39)	missense	probably damaging	1.00
R0265:Otulin	UTSW	15	27,616,510 (GRCm39)	missense	probably damaging	1.00
R0508:Otulin	UTSW	15	27,608,944 (GRCm39)	missense	possibly damaging	0.93
R2915:Otulin	UTSW	15	27,619,716 (GRCm39)	splice site	probably benign
R6077:Otulin	UTSW	15	27,611,696 (GRCm39)	missense	probably benign	0.00
R7099:Otulin	UTSW	15	27,608,832 (GRCm39)	missense	probably damaging	1.00
R7145:Otulin	UTSW	15	27,608,856 (GRCm39)	missense	probably damaging	1.00
R7904:Otulin	UTSW	15	27,630,580 (GRCm39)	missense	probably benign	0.37
R8111:Otulin	UTSW	15	27,606,381 (GRCm39)	missense	probably damaging	1.00
R8319:Otulin	UTSW	15	27,606,404 (GRCm39)	frame shift	probably null
R8731:Otulin	UTSW	15	27,608,928 (GRCm39)	missense	probably benign	0.44
R9562:Otulin	UTSW	15	27,608,812 (GRCm39)	missense	probably damaging	1.00
X0013:Otulin	UTSW	15	27,606,520 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- CCAAAAGCATCCGCCTTATGGAGAC -3'
(R):5'- GGCTTCCCTCAGAACACTCATTTGC -3'

Sequencing Primer
(F):5'- GCCTTATGGAGACATAGTTTGCAC -3'
(R):5'- CTTTTCCTTCCCAGGTTGAGATG -3'

Posted On

2013-04-24