Mutagenetix > Incidental Mutation

Incidental Mutation 'R7044:Otulinl'

547228

Institutional Source

Beutler Lab

Gene Symbol

Otulinl

Ensembl Gene

ENSMUSG00000056069

Gene Name

OTU deubiquitinase with linear linkage specificity like

Synonyms

Fam105a

MMRRC Submission

045143-MU

Accession Numbers

Essential gene?

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

Stock #

R7044 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27655154-27681630 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 27657321 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q3TVP5

Predicted Effect

probably benign
Transcript: ENSMUST00000100739

SMART Domains

Protein: ENSMUSP00000098305
Gene: ENSMUSG00000056069

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

Predicted Effect

unknown
Transcript: ENSMUST00000226170
AA Change: V306A

Predicted Effect

probably benign
Transcript: ENSMUST00000226581

Predicted Effect

probably benign
Transcript: ENSMUST00000231473

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (40/41)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd6	T	A	4: 32,815,260 (GRCm39)	Q448L	possibly damaging	Het
Appl1	A	G	14: 26,650,634 (GRCm39)	S513P	possibly damaging	Het
Cdhr2	A	T	13: 54,881,134 (GRCm39)	K1066*	probably null	Het
Ckap5	T	C	2: 91,407,946 (GRCm39)	I824T	probably benign	Het
Cracdl	C	T	1: 37,651,361 (GRCm39)	D1169N	possibly damaging	Het
Ctbp2	T	C	7: 132,616,831 (GRCm39)	R35G	possibly damaging	Het
Dcdc2c	T	C	12: 28,520,493 (GRCm39)		probably benign	Het
Eya1	T	A	1: 14,301,634 (GRCm39)		probably null	Het
Fat4	G	C	3: 39,064,959 (GRCm39)	A4972P	probably benign	Het
Fat4	C	T	3: 39,064,960 (GRCm39)	A4972V	probably benign	Het
Fbxl8	T	A	8: 105,993,647 (GRCm39)	M1K	probably null	Het
Glyat	T	C	19: 12,627,629 (GRCm39)	S75P	probably benign	Het
Gm3543	T	A	14: 41,802,023 (GRCm39)	I154F	probably damaging	Het
Gm4565	T	A	7: 22,282,795 (GRCm39)	M8L	probably benign	Het
Gpr179	T	C	11: 97,240,616 (GRCm39)	Q269R	probably benign	Het
Hjv	C	A	3: 96,434,790 (GRCm39)	H176Q	possibly damaging	Het
Ikzf2	T	C	1: 69,578,060 (GRCm39)	H483R	possibly damaging	Het
Il25	G	A	14: 55,170,615 (GRCm39)	A63T	probably benign	Het
Krt27	T	A	11: 99,237,640 (GRCm39)	N366I	probably benign	Het
Mfge8	A	G	7: 78,792,268 (GRCm39)	V219A	probably benign	Het
Nrbp1	T	C	5: 31,407,290 (GRCm39)	V373A	probably damaging	Het
Or4c100	A	G	2: 88,356,830 (GRCm39)	N301S	probably benign	Het
Pcdh20	A	G	14: 88,706,607 (GRCm39)	I231T	probably damaging	Het
Pfkp	A	G	13: 6,631,603 (GRCm39)	W151R	probably damaging	Het
Pikfyve	T	C	1: 65,286,013 (GRCm39)	I1084T	probably benign	Het
Poteg	T	C	8: 27,939,923 (GRCm39)	C27R	probably damaging	Het
Ptprz1	G	A	6: 23,044,345 (GRCm39)	V1266M	probably damaging	Het
Rpa1	T	C	11: 75,203,628 (GRCm39)	D358G	probably damaging	Het
Slx9	T	C	10: 77,350,226 (GRCm39)	D35G	possibly damaging	Het
Snapc4	A	G	2: 26,259,965 (GRCm39)	S495P	probably damaging	Het
Surf6	A	G	2: 26,789,368 (GRCm39)	I123T	probably damaging	Het
Sybu	A	T	15: 44,541,091 (GRCm39)	S324T	possibly damaging	Het
Trim3	A	T	7: 105,267,421 (GRCm39)	S319R	probably damaging	Het
Trmt11	A	G	10: 30,466,930 (GRCm39)	F72L	probably benign	Het
Tsks	C	T	7: 44,593,216 (GRCm39)	R61W	probably damaging	Het
Ube2k	T	C	5: 65,738,772 (GRCm39)	V36A	possibly damaging	Het
Ube3a	T	C	7: 58,938,161 (GRCm39)	V688A	probably damaging	Het
Vegfc	A	G	8: 54,610,080 (GRCm39)	K79E	possibly damaging	Het
Vmn1r77	G	A	7: 11,775,761 (GRCm39)	R179Q	probably benign	Het
Vmn2r97	T	A	17: 19,134,629 (GRCm39)	F16I	probably benign	Het
Zfp451	A	T	1: 33,841,248 (GRCm39)		probably benign	Het
Zfp600	C	T	4: 146,131,892 (GRCm39)	Q187*	probably null	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
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
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'- CCGAGTATAAACATGTCAATCTGGG -3'
(R):5'- TGGTTGGAAAGAAATGCAGTTC -3'

Sequencing Primer
(F):5'- CATGTCAATCTGGGGGAGAGAC -3'
(R):5'- GCAGTTCTTAATAGTGAACACTCTC -3'

Posted On

2019-05-13