Mutagenetix > Incidental Mutation

Incidental Mutation 'R1201:Otulinl'

101417

Institutional Source

Beutler Lab

Gene Symbol

Otulinl

Ensembl Gene

ENSMUSG00000056069

Gene Name

OTU deubiquitinase with linear linkage specificity like

Synonyms

Fam105a

MMRRC Submission

039271-MU

Accession Numbers

Essential gene?

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

Stock #

R1201 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

27655154-27681630 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 27658259 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 84 (Q84*)

Ref Sequence

ENSEMBL: ENSMUSP00000154311 (fasta)

Gene Model

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

AlphaFold

Q3TVP5

Predicted Effect

probably null
Transcript: ENSMUST00000100739
AA Change: Q204*

SMART Domains

Protein: ENSMUSP00000098305
Gene: ENSMUSG00000056069
AA Change: Q204*

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 null
Transcript: ENSMUST00000226145
AA Change: Q254*

Predicted Effect

probably null
Transcript: ENSMUST00000226170
AA Change: Q254*

Predicted Effect

probably null
Transcript: ENSMUST00000226581
AA Change: Q84*

Predicted Effect

probably benign
Transcript: ENSMUST00000231473

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232492

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.2%
20x: 89.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	G	2: 68,546,626 (GRCm39)	T103A	possibly damaging	Het
Acly	A	G	11: 100,384,761 (GRCm39)	I674T	probably damaging	Het
Aco2	C	T	15: 81,779,394 (GRCm39)	S33L	probably damaging	Het
Actc1	A	G	2: 113,879,994 (GRCm39)		probably null	Het
Amph	G	A	13: 19,326,198 (GRCm39)	V643M	probably damaging	Het
Arhgap40	A	C	2: 158,376,689 (GRCm39)	D275A	probably damaging	Het
Bltp1	A	G	3: 37,002,524 (GRCm39)	S1490G	probably benign	Het
Car11	A	G	7: 45,352,904 (GRCm39)	D221G	probably benign	Het
Catsperg1	A	T	7: 28,891,095 (GRCm39)	H596Q	possibly damaging	Het
Ccm2	T	C	11: 6,543,682 (GRCm39)	V231A	probably benign	Het
Crh	A	G	3: 19,748,090 (GRCm39)	I184T	probably damaging	Het
Csgalnact2	A	G	6: 118,091,393 (GRCm39)	S424P	probably damaging	Het
Dbf4	A	C	5: 8,447,498 (GRCm39)	L571V	possibly damaging	Het
Fancm	A	G	12: 65,153,542 (GRCm39)	K66E	possibly damaging	Het
Hydin	T	C	8: 111,296,487 (GRCm39)	V3672A	probably benign	Het
Kcnh2	C	T	5: 24,527,670 (GRCm39)	R894H	probably damaging	Het
Krt36	T	C	11: 99,994,883 (GRCm39)	N230D	probably benign	Het
Nlrp4b	G	T	7: 10,449,363 (GRCm39)	R522L	possibly damaging	Het
Ntn1	T	C	11: 68,104,052 (GRCm39)	D532G	probably damaging	Het
Numb	A	T	12: 83,848,059 (GRCm39)	V215D	probably damaging	Het
Or1x2	T	A	11: 50,917,937 (GRCm39)	M36K	probably damaging	Het
Or4k15	T	A	14: 50,364,813 (GRCm39)	W260R	probably damaging	Het
Or5k8	A	G	16: 58,644,226 (GRCm39)	I282T	probably damaging	Het
Or6b2b	T	G	1: 92,418,875 (GRCm39)	I201L	probably benign	Het
Or7a39	A	T	10: 78,715,311 (GRCm39)	M102L	probably benign	Het
Pidd1	A	G	7: 141,020,187 (GRCm39)	F580L	probably benign	Het
Plekhg4	A	G	8: 106,108,305 (GRCm39)	D1116G	probably damaging	Het
Prss33	G	T	17: 24,054,084 (GRCm39)	S74*	probably null	Het
Rab34	T	A	11: 78,081,222 (GRCm39)		probably null	Het
Rims2	A	C	15: 39,479,720 (GRCm39)	T1251P	possibly damaging	Het
Skint5	A	G	4: 113,413,342 (GRCm39)	S1152P	unknown	Het
Slc6a17	T	A	3: 107,400,388 (GRCm39)	Q206L	possibly damaging	Het
Tmem59l	C	T	8: 70,937,037 (GRCm39)	W310*	probably null	Het
Tnrc6c	T	G	11: 117,612,500 (GRCm39)	N379K	probably damaging	Het
Vmn1r76	A	C	7: 11,664,252 (GRCm39)	F286V	probably benign	Het
Xdh	T	C	17: 74,225,413 (GRCm39)	D463G	probably benign	Het
Zfp251	C	T	15: 76,738,436 (GRCm39)	R219Q	possibly damaging	Het
Zfp263	T	A	16: 3,567,294 (GRCm39)	H536Q	probably damaging	Het
Zfp607a	T	A	7: 27,578,736 (GRCm39)	F602Y	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- ACCATGAGTCCTACTCACCTGATCC -3'
(R):5'- TACCAGTTCACACGTCCCAGTTCAC -3'

Sequencing Primer
(F):5'- TGATCCAAACCACAAGTGTCG -3'
(R):5'- GTCCCAGTTCACACTTACCAG -3'

Posted On

2014-01-15