Mutagenetix > Incidental Mutation

Incidental Mutation 'R8443:Otub1'

654348

Institutional Source

Beutler Lab

Gene Symbol

Otub1

Ensembl Gene

ENSMUSG00000024767

Gene Name

OTU domain, ubiquitin aldehyde binding 1

Synonyms

MMRRC Submission

067825-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8443 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

7175571-7183649 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 7177360 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 96 (F96L)

Ref Sequence

ENSEMBL: ENSMUSP00000025679 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025679] [ENSMUST00000040261] [ENSMUST00000123594] [ENSMUST00000142085]

AlphaFold

Q7TQI3

Predicted Effect

probably damaging
Transcript: ENSMUST00000025679
AA Change: F96L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000025679
Gene: ENSMUSG00000024767
AA Change: F96L

Domain	Start	End	E-Value	Type
low complexity region	4	13	N/A	INTRINSIC
Pfam:Peptidase_C65	40	271	1e-89	PFAM
Pfam:OTU	86	266	1.5e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000040261

SMART Domains

Protein: ENSMUSP00000039507
Gene: ENSMUSG00000036278

Domain	Start	End	E-Value	Type
low complexity region	9	21	N/A	INTRINSIC
low complexity region	25	41	N/A	INTRINSIC
low complexity region	59	74	N/A	INTRINSIC
A1pp	151	281	7.67e-46	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000123594
AA Change: F66L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000115195
Gene: ENSMUSG00000024767
AA Change: F66L

Domain	Start	End	E-Value	Type
Pfam:Peptidase_C65	10	241	2e-90	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000142085
AA Change: F66L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000122945
Gene: ENSMUSG00000024767
AA Change: F66L

Domain	Start	End	E-Value	Type
Pfam:Peptidase_C65	10	95	2.6e-30	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	C	T	7: 45,629,449 (GRCm39)	V1293M	probably damaging	Het
Agt	A	G	8: 125,290,537 (GRCm39)	W257R	possibly damaging	Het
Arhgef11	T	A	3: 87,620,406 (GRCm39)	N457K	probably benign	Het
Bcl3	G	T	7: 19,554,082 (GRCm39)	H95Q	probably benign	Het
C1d	T	A	11: 17,213,662 (GRCm39)	N64K	probably damaging	Het
Casc3	C	T	11: 98,713,607 (GRCm39)	R280C	probably damaging	Het
Cd300c2	C	T	11: 114,891,466 (GRCm39)	S136N	probably benign	Het
Cdh8	A	G	8: 99,757,672 (GRCm39)	V642A	possibly damaging	Het
Cep290	A	T	10: 100,331,706 (GRCm39)	I180F	possibly damaging	Het
Copz2	A	G	11: 96,744,887 (GRCm39)	E86G	probably damaging	Het
Cplane1	A	G	15: 8,230,635 (GRCm39)	I971V	probably benign	Het
Cracdl	A	G	1: 37,652,537 (GRCm39)	V1090A	probably benign	Het
Csf3r	A	T	4: 125,923,712 (GRCm39)	D74V	possibly damaging	Het
Cyp11b1	T	G	15: 74,710,789 (GRCm39)	E257A	possibly damaging	Het
Dlg2	A	G	7: 92,024,875 (GRCm39)	Q580R	probably damaging	Het
Dnai2	A	T	11: 114,645,275 (GRCm39)	K570M	unknown	Het
Dock8	A	G	19: 25,133,281 (GRCm39)	K1143E	probably benign	Het
Dxo	T	C	17: 35,058,099 (GRCm39)	S394P	probably benign	Het
Etl4	A	G	2: 20,810,977 (GRCm39)	D1388G	probably benign	Het
F13a1	C	A	13: 37,209,692 (GRCm39)	R91L	probably damaging	Het
Fam50b	C	T	13: 34,930,856 (GRCm39)	R111*	probably null	Het
Fat2	T	G	11: 55,202,535 (GRCm39)	N180H	probably damaging	Het
Fitm2	A	T	2: 163,311,768 (GRCm39)	H148Q	probably benign	Het
Fjx1	A	T	2: 102,281,156 (GRCm39)	S260T	possibly damaging	Het
Fos	T	C	12: 85,522,466 (GRCm39)	L165P	probably damaging	Het
Gm39115	C	A	7: 141,689,710 (GRCm39)	C21F	unknown	Het
Gucy1a1	C	T	3: 82,005,000 (GRCm39)	C595Y	probably damaging	Het
Hectd4	G	T	5: 121,467,172 (GRCm39)	W2478L	possibly damaging	Het
I830077J02Rik	T	A	3: 105,836,060 (GRCm39)	K9N	probably damaging	Het
Ift70a1	T	C	2: 75,811,519 (GRCm39)	D188G	probably benign	Het
Ireb2	T	C	9: 54,811,265 (GRCm39)	F723L	possibly damaging	Het
Itpr1	G	A	6: 108,496,309 (GRCm39)	V2580I	probably damaging	Het
Kcnu1	G	A	8: 26,382,092 (GRCm39)	G481R	probably damaging	Het
Kdm3b	G	T	18: 34,926,129 (GRCm39)	A90S	probably benign	Het
Klra8	A	G	6: 130,105,056 (GRCm39)	V23A	probably damaging	Het
Lig4	A	G	8: 10,023,777 (GRCm39)	M1T	probably null	Het
Lpin3	C	T	2: 160,737,273 (GRCm39)	P107S	probably damaging	Het
Lrp1b	T	A	2: 41,265,867 (GRCm39)	K1100*	probably null	Het
Obscn	G	A	11: 58,929,700 (GRCm39)	H5172Y	probably damaging	Het
Or10a3m	T	A	7: 108,313,418 (GRCm39)	M286K	possibly damaging	Het
Or4p20	A	G	2: 88,253,745 (GRCm39)	I208T	probably benign	Het
Or5ae1	C	T	7: 84,565,787 (GRCm39)	H267Y	probably benign	Het
Or6z1	T	A	7: 6,504,734 (GRCm39)	T170S	probably damaging	Het
Or8c14-ps1	A	T	9: 38,101,498 (GRCm39)	H159L	possibly damaging	Het
Orc3	A	G	4: 34,593,173 (GRCm39)	L298P	probably damaging	Het
Pcnx3	A	G	19: 5,736,670 (GRCm39)	S156P	probably benign	Het
Pde3b	A	G	7: 114,126,129 (GRCm39)	M788V	probably damaging	Het
Pias4	A	G	10: 80,992,844 (GRCm39)		probably null	Het
Polg	A	G	7: 79,114,743 (GRCm39)	C73R	probably benign	Het
Ptbp2	T	C	3: 119,541,467 (GRCm39)	Y190C	probably damaging	Het
Rab33b	T	A	3: 51,401,050 (GRCm39)	F175I	probably damaging	Het
Rfx1	A	G	8: 84,806,515 (GRCm39)	T108A	probably benign	Het
Ribc2	A	G	15: 85,019,461 (GRCm39)	D81G	probably benign	Het
Rnf213	T	G	11: 119,340,149 (GRCm39)	M3460R		Het
Rsf1	T	A	7: 97,266,103 (GRCm39)	S86T		Het
Rxfp2	C	A	5: 149,973,068 (GRCm39)	T181N	possibly damaging	Het
Samm50	G	A	15: 84,094,702 (GRCm39)	E365K	possibly damaging	Het
Shld2	A	C	14: 33,989,942 (GRCm39)	N321K	probably benign	Het
Slc22a18	T	C	7: 143,051,123 (GRCm39)	V334A	probably damaging	Het
Slc23a3	A	T	1: 75,110,085 (GRCm39)	C97S	probably benign	Het
Smchd1	T	A	17: 71,714,244 (GRCm39)	H873L	probably benign	Het
Snrpa1	G	A	7: 65,720,381 (GRCm39)	G195R	probably benign	Het
Sphkap	T	A	1: 83,255,953 (GRCm39)	I599F	probably benign	Het
Stox1	A	G	10: 62,501,543 (GRCm39)	V339A	probably damaging	Het
Tlx1	A	G	19: 45,142,036 (GRCm39)	E220G	probably damaging	Het
Tmem71	C	A	15: 66,413,421 (GRCm39)		probably null	Het
Tmprss3	T	C	17: 31,413,976 (GRCm39)	D56G	possibly damaging	Het
Trabd	A	G	15: 88,970,107 (GRCm39)	R368G	probably benign	Het
Trf	A	G	9: 103,094,675 (GRCm39)	I461T	probably damaging	Het
Trpm3	A	G	19: 22,676,226 (GRCm39)	T133A	possibly damaging	Het
Trpv3	G	A	11: 73,186,209 (GRCm39)	V667I	possibly damaging	Het
Vps13b	T	A	15: 35,455,246 (GRCm39)	N718K	probably benign	Het
Zdbf2	T	C	1: 63,345,166 (GRCm39)	S1182P	possibly damaging	Het
Zfp13	T	C	17: 23,795,866 (GRCm39)	D235G	probably benign	Het
Zfp407	T	C	18: 84,227,987 (GRCm39)	E1874G	probably damaging	Het
Zfp503	T	C	14: 22,036,277 (GRCm39)	K213R	probably benign	Het
Zkscan2	A	G	7: 123,084,651 (GRCm39)	V491A	probably damaging	Het

Other mutations in Otub1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00823:Otub1	APN	19	7,181,416 (GRCm39)	splice site	probably benign
IGL02755:Otub1	APN	19	7,183,624 (GRCm39)	start codon destroyed	probably benign	0.08
R1545:Otub1	UTSW	19	7,176,571 (GRCm39)	missense	probably benign	0.31
R2261:Otub1	UTSW	19	7,176,861 (GRCm39)	splice site	probably null
R3422:Otub1	UTSW	19	7,176,424 (GRCm39)	missense	probably damaging	1.00
R4583:Otub1	UTSW	19	7,181,801 (GRCm39)	missense	possibly damaging	0.55
R4822:Otub1	UTSW	19	7,181,794 (GRCm39)	missense	probably damaging	1.00
R5267:Otub1	UTSW	19	7,177,357 (GRCm39)	missense	probably damaging	1.00
R5929:Otub1	UTSW	19	7,177,350 (GRCm39)	missense	probably damaging	1.00
R6144:Otub1	UTSW	19	7,176,518 (GRCm39)	nonsense	probably null
R7849:Otub1	UTSW	19	7,177,425 (GRCm39)	missense	probably damaging	0.99
R8098:Otub1	UTSW	19	7,181,794 (GRCm39)	missense	probably damaging	1.00
R9663:Otub1	UTSW	19	7,176,813 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATATGGGCTCCTCGGCTAG -3'
(R):5'- TAGCTTCCAAGAGTGCCAGTG -3'

Sequencing Primer
(F):5'- CTAGCAGAGCAAGGCCCTAG -3'
(R):5'- TCCAAGAGTGCCAGTGGGTTAC -3'

Posted On

2020-10-20