Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03189:Otud7b'

412591

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Otud7b

Ensembl Gene

ENSMUSG00000038495

Gene Name

OTU domain containing 7B

Synonyms

4930463P07Rik, 2900060B22Rik, Za20d1

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03189

Quality Score

Status

Chromosome

Chromosomal Location

96104527-96161129 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 96155478 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 678 (S678N)

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: S678N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000046413
Gene: ENSMUSG00000038495
AA Change: S678N

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: S678N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000088291
Gene: ENSMUSG00000038495
AA Change: S678N

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: S678N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000096449
Gene: ENSMUSG00000038495
AA Change: S678N

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930412O13Rik	A	G	2: 9,883,823		probably benign	Het
Abcb1b	A	G	5: 8,845,814	T916A	probably benign	Het
Adam22	A	T	5: 8,111,897	Y50*	probably null	Het
Adprhl2	T	C	4: 126,317,294		probably benign	Het
Ahnak	G	A	19: 9,011,239	V3296M	possibly damaging	Het
Bfar	A	G	16: 13,687,501	D125G	possibly damaging	Het
Bmp3	A	T	5: 98,872,720	Q334L	probably benign	Het
Camsap2	A	T	1: 136,281,662	D697E	probably damaging	Het
Car11	A	G	7: 45,702,455	T103A	probably damaging	Het
Cecr2	T	A	6: 120,762,430	S1373T	probably benign	Het
Cenpm	A	G	15: 82,234,433	V160A	possibly damaging	Het
Chl1	A	T	6: 103,683,207	I365F	possibly damaging	Het
Col20a1	C	T	2: 181,009,407	Q1089*	probably null	Het
Csf1r	A	T	18: 61,105,986	T13S	probably benign	Het
Fam13a	T	C	6: 58,956,858	E249G	probably damaging	Het
Fgd6	G	A	10: 94,044,456	V391I	probably benign	Het
Fhdc1	G	A	3: 84,455,061		probably benign	Het
Fn3krp	T	C	11: 121,429,630	I267T	probably damaging	Het
Fras1	A	T	5: 96,743,071	I2820F	probably benign	Het
Fyb2	A	G	4: 105,015,742	I771V	probably damaging	Het
Glis1	A	G	4: 107,615,051	Y275C	probably damaging	Het
Hdgf	A	G	3: 87,913,428	T62A	possibly damaging	Het
Hsd17b3	C	T	13: 64,063,087		probably null	Het
Iqgap1	T	A	7: 80,713,842	Y1655F	probably benign	Het
Izumo1	A	G	7: 45,625,164	D181G	probably damaging	Het
Lrp2	T	C	2: 69,438,478		probably benign	Het
Mark1	T	C	1: 184,919,693	N95S	probably damaging	Het
Mbd5	A	G	2: 49,257,751	K658E	probably damaging	Het
Mcm6	C	T	1: 128,344,302	D453N	probably damaging	Het
Mfsd14a	T	C	3: 116,641,855	D187G	probably benign	Het
Mrpl19	G	T	6: 81,961,993	S276*	probably null	Het
Ncoa2	G	A	1: 13,190,136	T105M	probably damaging	Het
Nop14	A	G	5: 34,650,628		probably benign	Het
Olfr1018	A	G	2: 85,823,558	T196A	probably benign	Het
Olfr1152	G	A	2: 87,868,215	A75T	possibly damaging	Het
Olfr170	T	C	16: 19,606,591	T26A	probably benign	Het
Pcdhb6	G	A	18: 37,336,152	V25M	probably damaging	Het
Prpf39	G	T	12: 65,043,302	G5*	probably null	Het
Serpinb9d	T	C	13: 33,202,912	V321A	probably damaging	Het
Sh2b1	A	G	7: 126,468,530	S613P	possibly damaging	Het
Snx30	T	C	4: 59,857,452	I55T	probably benign	Het
Spata13	T	C	14: 60,691,614	I207T	possibly damaging	Het
Suco	T	C	1: 161,857,337		probably benign	Het
Svs2	A	G	2: 164,237,112	S292P	possibly damaging	Het
Tcam1	A	G	11: 106,285,386	I313V	probably benign	Het
Tmem45a	A	T	16: 56,811,573	Y227*	probably null	Het
Tnfsf15	A	G	4: 63,730,052		probably benign	Het
Ttc26	C	T	6: 38,425,231	P553S	probably benign	Het
Vmn2r4	C	A	3: 64,389,168	R732L	possibly damaging	Het
Wdr7	C	T	18: 63,760,601	T602I	probably benign	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
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
R2172:Otud7b	UTSW	3	96153520	splice site	probably null
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
R9136:Otud7b	UTSW	3	96152498	splice site	probably benign
R9234:Otud7b	UTSW	3	96140460	missense	probably damaging	1.00

Posted On

2016-08-02