Mutagenetix > Incidental Mutation

Incidental Mutation 'R1054:Otulinl'

94223

Institutional Source

Beutler Lab

Gene Symbol

Otulinl

Ensembl Gene

ENSMUSG00000056069

Gene Name

OTU deubiquitinase with linear linkage specificity like

Synonyms

Fam105a

MMRRC Submission

039144-MU

Accession Numbers

Essential gene?

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

Stock #

R1054 (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 27664635 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 79 (R79G)

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: R79G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000098305
Gene: ENSMUSG00000056069
AA Change: R79G

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: R79G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000226170
AA Change: R79G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably benign
Transcript: ENSMUST00000226581

Predicted Effect

probably benign
Transcript: ENSMUST00000231473

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232492

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap39	T	C	15: 76,635,759 (GRCm39)	T159A	probably benign	Het
Arhgef38	T	C	3: 132,822,226 (GRCm39)	Y763C	probably damaging	Het
Arv1	T	A	8: 125,458,611 (GRCm39)	F245Y	probably benign	Het
Ccdc175	A	G	12: 72,225,318 (GRCm39)	I113T	possibly damaging	Het
Cdc42bpb	A	T	12: 111,279,787 (GRCm39)	M932K	probably benign	Het
Cdh15	T	C	8: 123,591,076 (GRCm39)	F442L	possibly damaging	Het
Col28a1	C	T	6: 8,175,534 (GRCm39)	D105N	probably damaging	Het
Cpne4	A	G	9: 104,899,600 (GRCm39)	T428A	probably benign	Het
Cramp1	T	A	17: 25,202,151 (GRCm39)	I444F	probably damaging	Het
Dhx32	T	A	7: 133,327,001 (GRCm39)	K360M	probably damaging	Het
Dna2	T	A	10: 62,799,602 (GRCm39)	C669S	possibly damaging	Het
Dusp8	ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGC	7: 141,635,804 (GRCm39)		probably benign	Het
Eif3f	G	A	7: 108,537,024 (GRCm39)		probably null	Het
Elmod1	T	C	9: 53,820,058 (GRCm39)	D310G	probably benign	Het
Fn1	A	G	1: 71,625,373 (GRCm39)	*2272Q	probably null	Het
Gnat1	A	G	9: 107,554,638 (GRCm39)	S76P	probably damaging	Het
Gtf2f2	T	C	14: 76,232,885 (GRCm39)	T94A	probably benign	Het
Hacd4	A	T	4: 88,341,264 (GRCm39)	W152R	probably damaging	Het
Kcnh8	A	G	17: 53,110,512 (GRCm39)	Y241C	probably damaging	Het
Lepr	T	C	4: 101,639,793 (GRCm39)	I753T	probably damaging	Het
Med12l	C	T	3: 59,156,072 (GRCm39)	H1162Y	probably damaging	Het
Med25	C	T	7: 44,529,804 (GRCm39)	A485T	probably benign	Het
Mup5	A	T	4: 61,750,871 (GRCm39)	S145R	probably benign	Het
Myo1g	A	G	11: 6,468,987 (GRCm39)	V105A	probably damaging	Het
Npc2	A	G	12: 84,807,492 (GRCm39)		probably null	Het
Or52h1	A	G	7: 103,829,498 (GRCm39)	I39T	probably benign	Het
Or6p1	A	G	1: 174,258,419 (GRCm39)	T142A	probably benign	Het
Pdzd2	A	G	15: 12,371,725 (GRCm39)	S2557P	probably damaging	Het
Pop1	T	C	15: 34,509,955 (GRCm39)	V353A	probably benign	Het
Pou3f2	A	G	4: 22,487,536 (GRCm39)	V199A	possibly damaging	Het
Pramel18	A	G	4: 101,766,361 (GRCm39)	E15G	probably benign	Het
Ptprm	A	T	17: 67,349,313 (GRCm39)	N43K	probably damaging	Het
Qrsl1	C	T	10: 43,758,077 (GRCm39)	D339N	probably damaging	Het
Rpl13-ps3	C	A	14: 59,131,394 (GRCm39)		noncoding transcript	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Sdr16c6	A	G	4: 4,069,908 (GRCm39)	V144A	probably damaging	Het
Spata31d1b	C	A	13: 59,865,332 (GRCm39)	H827N	probably damaging	Het
Spata31e4	T	C	13: 50,856,432 (GRCm39)	V690A	probably benign	Het
Taf4b	T	A	18: 14,954,530 (GRCm39)	H535Q	probably benign	Het
Timmdc1	A	G	16: 38,342,790 (GRCm39)	V36A	probably benign	Het
Tmem74b	C	T	2: 151,548,339 (GRCm39)	A22V	probably benign	Het
Txnrd3	T	A	6: 89,627,543 (GRCm39)	Y65*	probably null	Het
Vmn1r200	T	A	13: 22,579,624 (GRCm39)	S133R	probably damaging	Het
Vwf	G	A	6: 125,567,190 (GRCm39)	C311Y	probably damaging	Het
Wipf2	G	A	11: 98,787,141 (GRCm39)	R390H	possibly damaging	Het
Zfp282	T	A	6: 47,881,533 (GRCm39)	S407T	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
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

Predicted Primers

PCR Primer
(F):5'- CACACATACCTTCCGCATCAGTCTG -3'
(R):5'- AAGCCAAGTCCTTAGTGCTGCC -3'

Sequencing Primer
(F):5'- CGCATCAGTCTGGCACG -3'
(R):5'- TGTGATGACGACGCTCTC -3'

Posted On

2014-01-05