Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00719:Serpinb6b'

13981

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Serpinb6b

Ensembl Gene

ENSMUSG00000042842

Gene Name

serine (or cysteine) peptidase inhibitor, clade B, member 6b

Synonyms

NK13, ovalbumin, Spi12

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

IGL00719

Quality Score

Status

Chromosome

Chromosomal Location

32965209-32979067 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 32971546 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 81 (T81S)

Ref Sequence

ENSEMBL: ENSMUSP00000017184 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017184] [ENSMUST00000110293] [ENSMUST00000164541]

AlphaFold

O08804

Predicted Effect

probably benign
Transcript: ENSMUST00000017184
AA Change: T81S

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000017184
Gene: ENSMUSG00000042842
AA Change: T81S

Domain	Start	End	E-Value	Type
SERPIN	13	208	1.22e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110293
AA Change: T81S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000105922
Gene: ENSMUSG00000042842
AA Change: T81S

Domain	Start	End	E-Value	Type
SERPIN	13	377	1.99e-174	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000164541

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222967

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 16 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Allc	C	T	12: 28,564,249	E142K	probably benign	Het
Cln5	C	T	14: 103,076,032	T240M	possibly damaging	Het
Ddx42	T	C	11: 106,235,749	V330A	probably damaging	Het
Egr1	G	A	18: 34,862,494	E110K	possibly damaging	Het
Fbxw7	A	G	3: 84,969,309		probably benign	Het
Ftsj3	T	C	11: 106,250,179	D674G	probably damaging	Het
Mboat2	T	A	12: 24,939,354		probably benign	Het
Mga	T	A	2: 119,947,453	Y1826*	probably null	Het
Mipol1	T	A	12: 57,307,353		probably benign	Het
Pds5b	C	A	5: 150,722,542	T155N	probably benign	Het
Plk4	A	T	3: 40,801,789	D45V	probably damaging	Het
Rnf24	C	T	2: 131,305,693	V63I	possibly damaging	Het
Sesn1	C	T	10: 41,898,325	T291I	probably damaging	Het
Tenm3	T	C	8: 48,279,042	T1276A	probably benign	Het
Tmbim7	T	A	5: 3,679,087	I279N	probably damaging	Het
Zfp40	T	C	17: 23,175,742	T556A	probably benign	Het

Other mutations in Serpinb6b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01077:Serpinb6b	APN	13	32978066	missense	possibly damaging	0.68
IGL01553:Serpinb6b	APN	13	32974948	missense	probably damaging	1.00
IGL02981:Serpinb6b	APN	13	32971606	missense	probably benign	0.34
R0308:Serpinb6b	UTSW	13	32978237	missense	probably benign	0.09
R1568:Serpinb6b	UTSW	13	32974912	missense	probably damaging	1.00
R1692:Serpinb6b	UTSW	13	32974995	missense	probably damaging	1.00
R1763:Serpinb6b	UTSW	13	32978058	missense	probably damaging	1.00
R1917:Serpinb6b	UTSW	13	32978240	missense	probably benign
R1918:Serpinb6b	UTSW	13	32978240	missense	probably benign
R1919:Serpinb6b	UTSW	13	32978240	missense	probably benign
R1920:Serpinb6b	UTSW	13	32975008	missense	possibly damaging	0.47
R3032:Serpinb6b	UTSW	13	32968568	missense	possibly damaging	0.78
R4239:Serpinb6b	UTSW	13	32972263	missense	probably damaging	0.96
R5089:Serpinb6b	UTSW	13	32978150	missense	probably benign
R5503:Serpinb6b	UTSW	13	32977659	missense	possibly damaging	0.95
R5540:Serpinb6b	UTSW	13	32977558	nonsense	probably null
R6061:Serpinb6b	UTSW	13	32977994	missense	probably damaging	0.99
R6253:Serpinb6b	UTSW	13	32972272	missense	probably damaging	1.00
R7156:Serpinb6b	UTSW	13	32971615	missense	probably benign	0.09
R7248:Serpinb6b	UTSW	13	32977576	missense	probably benign	0.23
R7315:Serpinb6b	UTSW	13	32972257	missense	probably benign	0.41
R7424:Serpinb6b	UTSW	13	32968667	missense	probably damaging	0.99
R7547:Serpinb6b	UTSW	13	32974924	missense	probably benign	0.05
R7732:Serpinb6b	UTSW	13	32968607	missense	probably damaging	1.00
R7770:Serpinb6b	UTSW	13	32977529	missense	probably benign	0.05
R7802:Serpinb6b	UTSW	13	32971596
R8814:Serpinb6b	UTSW	13	32978304	missense	possibly damaging	0.94
R8966:Serpinb6b	UTSW	13	32978052	missense	probably damaging	1.00
R8988:Serpinb6b	UTSW	13	32978142	missense	probably benign	0.45
R9037:Serpinb6b	UTSW	13	32978015	nonsense	probably null
R9129:Serpinb6b	UTSW	13	32978156	small deletion	probably benign
R9377:Serpinb6b	UTSW	13	32968511	start codon destroyed	probably null	1.00
R9415:Serpinb6b	UTSW	13	32975019	missense

Posted On

2012-12-06