Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01941:Otud7b'

181163

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Otud7b

Ensembl Gene

ENSMUSG00000038495

Gene Name

OTU domain containing 7B

Synonyms

Za20d1, 2900060B22Rik, 4930463P07Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01941

Quality Score

Status

Chromosome

Chromosomal Location

96011839-96068446 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 96062776 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 672 (G672C)

Ref Sequence

ENSEMBL: ENSMUSP00000096449 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035519] [ENSMUST00000090785] [ENSMUST00000098849]

AlphaFold

B2RUR8

Predicted Effect

probably benign
Transcript: ENSMUST00000035519
AA Change: G672C

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000046413
Gene: ENSMUSG00000038495
AA Change: G672C

Domain	Start	End	E-Value	Type
PDB:2L2D\|A	1	59	1e-25	PDB
low complexity region	112	124	N/A	INTRINSIC
Pfam:OTU	189	359	4.9e-30	PFAM
low complexity region	482	498	N/A	INTRINSIC
low complexity region	527	558	N/A	INTRINSIC
low complexity region	821	836	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000090785
AA Change: G672C

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000088291
Gene: ENSMUSG00000038495
AA Change: G672C

Domain	Start	End	E-Value	Type
PDB:2L2D\|A	1	59	1e-25	PDB
low complexity region	112	124	N/A	INTRINSIC
Pfam:OTU	189	359	4.9e-30	PFAM
low complexity region	482	498	N/A	INTRINSIC
low complexity region	527	558	N/A	INTRINSIC
low complexity region	821	836	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000098849
AA Change: G672C

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000096449
Gene: ENSMUSG00000038495
AA Change: G672C

Domain	Start	End	E-Value	Type
PDB:2L2D\|A	1	59	1e-25	PDB
low complexity region	112	124	N/A	INTRINSIC
Pfam:OTU	189	359	4.7e-27	PFAM
low complexity region	482	498	N/A	INTRINSIC
low complexity region	527	558	N/A	INTRINSIC
Pfam:zf-A20	797	821	6.3e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135263

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased body weight, tertiary lymphoid hyperplasia, increased stimulated B cell proliferation and survival and decreased susceptibility to C. rodentium infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624G23Rik	A	T	12: 24,094,802 (GRCm39)	L123Q	probably benign	Het
Abca2	C	T	2: 25,333,107 (GRCm39)	S1602F	probably benign	Het
Abcc9	C	A	6: 142,551,630 (GRCm39)	C1191F	probably damaging	Het
Adam3	G	T	8: 25,171,462 (GRCm39)		probably benign	Het
Aldh1l1	G	T	6: 90,539,677 (GRCm39)	G202V	probably damaging	Het
Ankrd46	T	C	15: 36,486,083 (GRCm39)	N57D	possibly damaging	Het
Asic1	A	T	15: 99,596,982 (GRCm39)	H548L	possibly damaging	Het
Atpaf2	A	G	11: 60,294,724 (GRCm39)	I233T	probably benign	Het
Ccdc185	G	T	1: 182,575,769 (GRCm39)	Q307K	probably benign	Het
Cep120	T	C	18: 53,856,220 (GRCm39)	D399G	probably benign	Het
Cnn2	G	A	10: 79,828,388 (GRCm39)	V122M	probably benign	Het
Dgkd	T	C	1: 87,852,281 (GRCm39)	S472P	probably damaging	Het
Dock5	A	C	14: 68,049,681 (GRCm39)	I701S	probably damaging	Het
Efl1	A	G	7: 82,347,184 (GRCm39)	E570G	probably benign	Het
Eln	G	A	5: 134,747,024 (GRCm39)		probably benign	Het
Fat2	A	G	11: 55,202,831 (GRCm39)	V81A	probably benign	Het
Fbxw21	T	G	9: 108,977,224 (GRCm39)	I162L	probably benign	Het
Fhl2	G	A	1: 43,170,832 (GRCm39)	Q161*	probably null	Het
Gabrg2	A	G	11: 41,862,548 (GRCm39)	Y179H	probably damaging	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Grik5	A	T	7: 24,764,607 (GRCm39)	I152N	probably damaging	Het
H2-Ab1	A	T	17: 34,486,408 (GRCm39)	K156*	probably null	Het
Hecw1	T	C	13: 14,490,895 (GRCm39)	Y699C	probably benign	Het
Ipo9	A	C	1: 135,335,811 (GRCm39)	V202G	possibly damaging	Het
Itprid1	A	G	6: 55,945,030 (GRCm39)	R584G	probably benign	Het
Jmjd6	A	T	11: 116,732,184 (GRCm39)		probably null	Het
Lama5	A	G	2: 179,834,185 (GRCm39)	I1416T	possibly damaging	Het
Matn1	T	C	4: 130,679,572 (GRCm39)		probably benign	Het
Mavs	T	C	2: 131,088,525 (GRCm39)	V443A	probably damaging	Het
Mpdz	A	T	4: 81,204,624 (GRCm39)	S1798R	possibly damaging	Het
Muc6	A	C	7: 141,218,497 (GRCm39)	S2059A	probably benign	Het
Or4a78	A	T	2: 89,497,812 (GRCm39)	C139*	probably null	Het
Palld	T	A	8: 61,988,734 (GRCm39)	T572S	probably benign	Het
Pde6b	T	A	5: 108,570,902 (GRCm39)	V379E	probably benign	Het
Peak1	A	G	9: 56,166,059 (GRCm39)	V623A	probably damaging	Het
Prr12	C	T	7: 44,698,083 (GRCm39)		probably benign	Het
Rxra	T	C	2: 27,644,253 (GRCm39)	I315T	probably damaging	Het
Slc11a1	C	T	1: 74,416,338 (GRCm39)	A55V	probably damaging	Het
Slitrk3	T	C	3: 72,958,404 (GRCm39)	N123D	possibly damaging	Het
Smr2l	A	G	5: 88,430,301 (GRCm39)	S66G	probably benign	Het
Spcs1	A	G	14: 30,722,829 (GRCm39)	M82T	probably damaging	Het
Sspo	A	G	6: 48,472,116 (GRCm39)	E113G	probably benign	Het
Syne2	A	G	12: 76,013,994 (GRCm39)	K3062E	probably benign	Het
Traf3ip2	T	C	10: 39,510,656 (GRCm39)	S310P	probably benign	Het
Ubp1	T	C	9: 113,785,826 (GRCm39)	L167S	probably damaging	Het
Vmn1r196	T	A	13: 22,477,869 (GRCm39)	C169*	probably null	Het
Vmn1r223	T	A	13: 23,434,407 (GRCm39)	F334I	possibly damaging	Het
Vmn2r10	A	T	5: 109,143,820 (GRCm39)	I710N	probably damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Wdr26	A	G	1: 181,038,635 (GRCm39)		probably benign	Het
Wnt7a	A	G	6: 91,371,645 (GRCm39)	F106L	probably benign	Het
Zfp940	C	T	7: 29,546,295 (GRCm39)	V34M	probably damaging	Het

Other mutations in Otud7b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01344:Otud7b	APN	3	96,058,297 (GRCm39)	splice site	probably benign
IGL01651:Otud7b	APN	3	96,060,807 (GRCm39)	nonsense	probably null
IGL02376:Otud7b	APN	3	96,062,354 (GRCm39)	missense	possibly damaging	0.48
IGL03047:Otud7b	APN	3	96,058,301 (GRCm39)	splice site	probably benign
IGL03189:Otud7b	APN	3	96,062,795 (GRCm39)	missense	probably benign
PIT4434001:Otud7b	UTSW	3	96,047,776 (GRCm39)	missense	probably damaging	1.00
R0605:Otud7b	UTSW	3	96,052,270 (GRCm39)	unclassified	probably benign
R1364:Otud7b	UTSW	3	96,058,768 (GRCm39)	missense	probably damaging	1.00
R1570:Otud7b	UTSW	3	96,063,208 (GRCm39)	missense	probably damaging	1.00
R2172:Otud7b	UTSW	3	96,060,837 (GRCm39)	splice site	probably null
R2199:Otud7b	UTSW	3	96,063,089 (GRCm39)	missense	probably damaging	1.00
R2842:Otud7b	UTSW	3	96,043,905 (GRCm39)	missense	probably damaging	1.00
R2914:Otud7b	UTSW	3	96,063,272 (GRCm39)	missense	probably benign	0.01
R4716:Otud7b	UTSW	3	96,058,227 (GRCm39)	missense	probably damaging	0.96
R4810:Otud7b	UTSW	3	96,043,918 (GRCm39)	missense	probably damaging	1.00
R4878:Otud7b	UTSW	3	96,043,821 (GRCm39)	utr 5 prime	probably benign
R5327:Otud7b	UTSW	3	96,063,055 (GRCm39)	missense	probably benign
R5376:Otud7b	UTSW	3	96,060,841 (GRCm39)	splice site	probably null
R5530:Otud7b	UTSW	3	96,048,799 (GRCm39)	missense	probably damaging	1.00
R5741:Otud7b	UTSW	3	96,051,615 (GRCm39)	missense	probably damaging	1.00
R5877:Otud7b	UTSW	3	96,059,277 (GRCm39)	nonsense	probably null
R6365:Otud7b	UTSW	3	96,062,567 (GRCm39)	missense	probably benign	0.03
R7095:Otud7b	UTSW	3	96,062,554 (GRCm39)	missense	probably benign	0.01
R7404:Otud7b	UTSW	3	96,043,936 (GRCm39)	critical splice donor site	probably null
R7699:Otud7b	UTSW	3	96,063,280 (GRCm39)	missense	probably damaging	0.98
R7793:Otud7b	UTSW	3	96,062,528 (GRCm39)	missense	probably benign	0.01
R7840:Otud7b	UTSW	3	96,062,690 (GRCm39)	missense	probably damaging	1.00
R8467:Otud7b	UTSW	3	96,062,993 (GRCm39)	missense	probably benign	0.37
R9045:Otud7b	UTSW	3	96,059,895 (GRCm39)	missense	probably benign	0.29
R9136:Otud7b	UTSW	3	96,059,815 (GRCm39)	splice site	probably benign
R9234:Otud7b	UTSW	3	96,047,771 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07