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

Za20d1, 2900060B22Rik, 4930463P07Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03189

Quality Score

Status

Chromosome

Chromosomal Location

96011839-96068446 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 96062795 bp (GRCm39)

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
Abcb1b	A	G	5: 8,895,814 (GRCm39)	T916A	probably benign	Het
Adam22	A	T	5: 8,161,897 (GRCm39)	Y50*	probably null	Het
Adprs	T	C	4: 126,211,087 (GRCm39)		probably benign	Het
Ahnak	G	A	19: 8,988,603 (GRCm39)	V3296M	possibly damaging	Het
Bfar	A	G	16: 13,505,365 (GRCm39)	D125G	possibly damaging	Het
Bmp3	A	T	5: 99,020,579 (GRCm39)	Q334L	probably benign	Het
Camsap2	A	T	1: 136,209,400 (GRCm39)	D697E	probably damaging	Het
Car11	A	G	7: 45,351,879 (GRCm39)	T103A	probably damaging	Het
Cecr2	T	A	6: 120,739,391 (GRCm39)	S1373T	probably benign	Het
Cenpm	A	G	15: 82,118,634 (GRCm39)	V160A	possibly damaging	Het
Chl1	A	T	6: 103,660,168 (GRCm39)	I365F	possibly damaging	Het
Col20a1	C	T	2: 180,651,200 (GRCm39)	Q1089*	probably null	Het
Csf1r	A	T	18: 61,239,058 (GRCm39)	T13S	probably benign	Het
Fam13a	T	C	6: 58,933,843 (GRCm39)	E249G	probably damaging	Het
Fgd6	G	A	10: 93,880,318 (GRCm39)	V391I	probably benign	Het
Fhdc1	G	A	3: 84,362,368 (GRCm39)		probably benign	Het
Fn3krp	T	C	11: 121,320,456 (GRCm39)	I267T	probably damaging	Het
Fras1	A	T	5: 96,890,930 (GRCm39)	I2820F	probably benign	Het
Fyb2	A	G	4: 104,872,939 (GRCm39)	I771V	probably damaging	Het
Gata3os	A	G	2: 9,888,634 (GRCm39)		probably benign	Het
Glis1	A	G	4: 107,472,248 (GRCm39)	Y275C	probably damaging	Het
Hdgf	A	G	3: 87,820,735 (GRCm39)	T62A	possibly damaging	Het
Hsd17b3	C	T	13: 64,210,901 (GRCm39)		probably null	Het
Ift56	C	T	6: 38,402,166 (GRCm39)	P553S	probably benign	Het
Iqgap1	T	A	7: 80,363,590 (GRCm39)	Y1655F	probably benign	Het
Izumo1	A	G	7: 45,274,588 (GRCm39)	D181G	probably damaging	Het
Lrp2	T	C	2: 69,268,822 (GRCm39)		probably benign	Het
Mark1	T	C	1: 184,651,890 (GRCm39)	N95S	probably damaging	Het
Mbd5	A	G	2: 49,147,763 (GRCm39)	K658E	probably damaging	Het
Mcm6	C	T	1: 128,272,039 (GRCm39)	D453N	probably damaging	Het
Mfsd14a	T	C	3: 116,435,504 (GRCm39)	D187G	probably benign	Het
Mrpl19	G	T	6: 81,938,974 (GRCm39)	S276*	probably null	Het
Ncoa2	G	A	1: 13,260,360 (GRCm39)	T105M	probably damaging	Het
Nop14	A	G	5: 34,807,972 (GRCm39)		probably benign	Het
Or2ah1	A	G	2: 85,653,902 (GRCm39)	T196A	probably benign	Het
Or2aj5	T	C	16: 19,425,341 (GRCm39)	T26A	probably benign	Het
Or5w19	G	A	2: 87,698,559 (GRCm39)	A75T	possibly damaging	Het
Pcdhb6	G	A	18: 37,469,205 (GRCm39)	V25M	probably damaging	Het
Prpf39	G	T	12: 65,090,076 (GRCm39)	G5*	probably null	Het
Serpinb9d	T	C	13: 33,386,895 (GRCm39)	V321A	probably damaging	Het
Sh2b1	A	G	7: 126,067,702 (GRCm39)	S613P	possibly damaging	Het
Snx30	T	C	4: 59,857,452 (GRCm39)	I55T	probably benign	Het
Spata13	T	C	14: 60,929,063 (GRCm39)	I207T	possibly damaging	Het
Suco	T	C	1: 161,684,906 (GRCm39)		probably benign	Het
Svs5	A	G	2: 164,079,032 (GRCm39)	S292P	possibly damaging	Het
Tcam1	A	G	11: 106,176,212 (GRCm39)	I313V	probably benign	Het
Tmem45a	A	T	16: 56,631,936 (GRCm39)	Y227*	probably null	Het
Tnfsf15	A	G	4: 63,648,289 (GRCm39)		probably benign	Het
Vmn2r4	C	A	3: 64,296,589 (GRCm39)	R732L	possibly damaging	Het
Wdr7	C	T	18: 63,893,672 (GRCm39)	T602I	probably benign	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
IGL01941:Otud7b	APN	3	96,062,776 (GRCm39)	missense	probably benign	0.00
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
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

2016-08-02