Mutagenetix > Incidental Mutations

Incidental Mutation 'R2172:Otud7b'

266097

Institutional Source

Beutler Lab

Gene Symbol

Otud7b

Ensembl Gene

ENSMUSG00000038495

Gene Name

OTU domain containing 7B

Synonyms

4930463P07Rik, 2900060B22Rik, Za20d1

MMRRC Submission

040174-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R2172 (G1)

Quality Score

214

Status

Not validated

Chromosome

Chromosomal Location

96104527-96161129 bp(+) (GRCm38)

Type of Mutation

splice site (28 bp from exon)

DNA Base Change (assembly)

T to G at 96153520 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000096449 (fasta)

Gene Model

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

AlphaFold

B2RUR8

Predicted Effect

probably null
Transcript: ENSMUST00000035519

SMART Domains

Protein: ENSMUSP00000046413
Gene: ENSMUSG00000038495

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 null
Transcript: ENSMUST00000090785

SMART Domains

Protein: ENSMUSP00000088291
Gene: ENSMUSG00000038495

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 null
Transcript: ENSMUST00000098849

SMART Domains

Protein: ENSMUSP00000096449
Gene: ENSMUSG00000038495

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

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap3	T	A	18: 37,990,560	E441V	probably damaging	Het
Arfip2	T	A	7: 105,637,988	D64V	probably damaging	Het
Atg9a	C	A	1: 75,185,685	R527L	probably damaging	Het
Atp1a1	T	G	3: 101,590,548	I308L	probably benign	Het
Bcan	T	A	3: 87,996,581	Y199F	probably damaging	Het
Bsn	T	C	9: 108,109,992		probably benign	Het
Ccdc158	A	T	5: 92,632,508	L902H	probably damaging	Het
Dnah7b	A	G	1: 46,124,512	Y492C	probably benign	Het
Dnah9	G	T	11: 66,072,779	H1783N	probably damaging	Het
Dpep2	A	G	8: 105,988,998	V320A	possibly damaging	Het
Dsc2	A	G	18: 20,045,502	Y282H	probably damaging	Het
Egfr	C	T	11: 16,911,562	P1114S	probably benign	Het
Fastkd1	A	G	2: 69,700,133	S560P	probably damaging	Het
Gm10696	T	G	3: 94,176,298	K69Q	possibly damaging	Het
Gm14295	G	A	2: 176,811,102	R795Q	possibly damaging	Het
Gpr155	C	T	2: 73,382,127	V51I	probably benign	Het
Gsap	G	A	5: 21,222,440		probably null	Het
Hecw1	T	A	13: 14,377,706	I103F	probably damaging	Het
Herc3	T	A	6: 58,887,437	N685K	probably damaging	Het
Hnrnph1	T	A	11: 50,382,816	D244E	probably benign	Het
Hydin	A	G	8: 110,582,049	E3989G	probably benign	Het
Ibsp	T	C	5: 104,310,430	Y278H	probably damaging	Het
Ift57	T	G	16: 49,759,340	N291K	probably benign	Het
Il15ra	A	G	2: 11,723,571	T149A	possibly damaging	Het
Ints5	C	T	19: 8,896,282	T535I	possibly damaging	Het
Jarid2	T	C	13: 44,902,539	L268P	probably damaging	Het
Klhdc7a	T	A	4: 139,965,810	T609S	probably benign	Het
Lrrc49	A	G	9: 60,602,682	V429A	probably benign	Het
Lsm3	T	C	6: 91,522,272	V87A	possibly damaging	Het
Man1c1	G	C	4: 134,703,438	P11R	probably damaging	Het
Map1a	G	T	2: 121,307,932	V2726L	probably damaging	Het
Marveld3	A	C	8: 109,961,846	S88A	probably benign	Het
Mcm9	T	C	10: 53,548,574	D640G	probably damaging	Het
Mettl4	A	G	17: 94,733,163	I399T	probably benign	Het
Mmp27	T	A	9: 7,577,378	L274*	probably null	Het
Nacc2	A	C	2: 26,060,223	D500E	probably benign	Het
Nprl3	T	A	11: 32,234,894	M372L	probably benign	Het
Olfr478	A	T	7: 108,031,467	I292N	probably damaging	Het
Pcx	G	A	19: 4,620,881	R1070H	probably benign	Het
Ptprq	C	T	10: 107,590,994	W1560*	probably null	Het
Puf60	A	T	15: 76,070,464	I520N	probably damaging	Het
Qars	C	T	9: 108,509,200	R143C	probably damaging	Het
Rfx3	G	A	19: 27,815,494	Q322*	probably null	Het
Samd14	G	T	11: 95,014,391	V10L	probably benign	Het
Setd2	G	A	9: 110,549,844	R909Q	probably benign	Het
Sh2d4a	T	C	8: 68,296,664	S117P	probably benign	Het
Sharpin	C	A	15: 76,350,666		probably benign	Het
Skor1	C	A	9: 63,145,122	A494S	possibly damaging	Het
Slc41a2	T	C	10: 83,283,774	T375A	probably benign	Het
Sparc	G	A	11: 55,395,801	Q324*	probably null	Het
Srebf1	T	C	11: 60,206,502	T171A	probably benign	Het
Srrd	A	G	5: 112,341,122	I54T	possibly damaging	Het
Tecpr1	G	T	5: 144,196,417	Q1072K	probably damaging	Het
Tecpr1	A	T	5: 144,211,456	V377E	probably benign	Het
Tln1	T	A	4: 43,545,721	H919L	probably benign	Het
Tm9sf3	C	T	19: 41,217,420	S516N	probably damaging	Het
Trpa1	T	A	1: 14,881,656	T940S	probably benign	Het
Trpv4	G	A	5: 114,644,710	R64C	probably damaging	Het
Tufm	A	G	7: 126,488,847	E174G	probably benign	Het
Urb2	A	G	8: 124,031,102	T1183A	probably damaging	Het
Virma	A	T	4: 11,527,843	M1245L	possibly damaging	Het
Vmn2r32	T	C	7: 7,474,615	Y259C	probably damaging	Het
Zfp329	A	G	7: 12,810,767	F277L	probably damaging	Het
Zfp683	C	T	4: 134,055,795	T190I	possibly damaging	Het

Other mutations in Otud7b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01344:Otud7b	APN	3	96150980	splice site	probably benign
IGL01651:Otud7b	APN	3	96153490	nonsense	probably null
IGL01941:Otud7b	APN	3	96155459	missense	probably benign	0.00
IGL02376:Otud7b	APN	3	96155037	missense	possibly damaging	0.48
IGL03047:Otud7b	APN	3	96150984	splice site	probably benign
IGL03189:Otud7b	APN	3	96155478	missense	probably benign
PIT4434001:Otud7b	UTSW	3	96140465	missense	probably damaging	1.00
R0605:Otud7b	UTSW	3	96144959	unclassified	probably benign
R1364:Otud7b	UTSW	3	96151451	missense	probably damaging	1.00
R1570:Otud7b	UTSW	3	96155891	missense	probably damaging	1.00
R2199:Otud7b	UTSW	3	96155772	missense	probably damaging	1.00
R2842:Otud7b	UTSW	3	96136594	missense	probably damaging	1.00
R2914:Otud7b	UTSW	3	96155955	missense	probably benign	0.01
R4716:Otud7b	UTSW	3	96150910	missense	probably damaging	0.96
R4810:Otud7b	UTSW	3	96136607	missense	probably damaging	1.00
R4878:Otud7b	UTSW	3	96136510	utr 5 prime	probably benign
R5327:Otud7b	UTSW	3	96155738	missense	probably benign
R5376:Otud7b	UTSW	3	96153524	splice site	probably null
R5530:Otud7b	UTSW	3	96141488	missense	probably damaging	1.00
R5741:Otud7b	UTSW	3	96144304	missense	probably damaging	1.00
R5877:Otud7b	UTSW	3	96151960	nonsense	probably null
R6365:Otud7b	UTSW	3	96155250	missense	probably benign	0.03
R7095:Otud7b	UTSW	3	96155237	missense	probably benign	0.01
R7404:Otud7b	UTSW	3	96136625	critical splice donor site	probably null
R7699:Otud7b	UTSW	3	96155963	missense	probably damaging	0.98
R7793:Otud7b	UTSW	3	96155211	missense	probably benign	0.01
R7840:Otud7b	UTSW	3	96155373	missense	probably damaging	1.00
R8467:Otud7b	UTSW	3	96155676	missense	probably benign	0.37
R9045:Otud7b	UTSW	3	96152578	missense	probably benign	0.29
R9234:Otud7b	UTSW	3	96140460	missense	probably damaging	1.00

Predicted Primers

Posted On

2015-02-05