Mutagenetix > Incidental Mutations

Incidental Mutation 'R1692:Serpinb6b'

191887

Institutional Source

Beutler Lab

Gene Symbol

Serpinb6b

Ensembl Gene

ENSMUSG00000042842

Gene Name

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

Synonyms

NK13, ovalbumin, Spi12

MMRRC Submission

039725-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R1692 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32965209-32979067 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 32974995 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 179 (F179V)

Ref Sequence

ENSEMBL: ENSMUSP00000017184 (fasta)

Gene Model

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

AlphaFold

O08804

Predicted Effect

probably damaging
Transcript: ENSMUST00000017184
AA Change: F179V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000017184
Gene: ENSMUSG00000042842
AA Change: F179V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000110293
AA Change: F179V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105922
Gene: ENSMUSG00000042842
AA Change: F179V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000164541
AA Change: F60V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222967

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130019O22Rik	G	T	7: 127,384,480	H483Q	possibly damaging	Het
Adam12	A	T	7: 133,887,944	*582R	probably null	Het
Agfg2	A	G	5: 137,664,371	Y145H	probably damaging	Het
Aldh1a1	C	T	19: 20,630,818	P335S	probably damaging	Het
Amotl1	T	C	9: 14,551,722	R732G	possibly damaging	Het
Ankef1	A	T	2: 136,550,426	I512F	probably benign	Het
Atg9a	A	T	1: 75,190,355	D17E	probably benign	Het
Brd8	A	T	18: 34,609,833	S253R	probably damaging	Het
Cd79a	T	A	7: 24,901,456	M192K	probably damaging	Het
Clcn1	T	G	6: 42,313,098	F822L	possibly damaging	Het
Dnajb12	A	G	10: 59,896,377	Y346C	probably damaging	Het
Erbb3	A	G	10: 128,571,725	I918T	probably benign	Het
Fam173b	T	C	15: 31,602,151		probably null	Het
Fam58b	T	C	11: 78,751,331	E111G	probably benign	Het
Fbxw20	G	T	9: 109,221,709	T377K	possibly damaging	Het
Fry	A	G	5: 150,370,227	I462V	probably damaging	Het
Gmip	A	G	8: 69,813,903	N251S	probably benign	Het
Gpx1	A	G	9: 108,339,475	T55A	possibly damaging	Het
Hmcn2	T	C	2: 31,450,844	V4443A	possibly damaging	Het
Kdm4d	A	T	9: 14,464,511	I17K	probably benign	Het
Lamc3	A	G	2: 31,921,781	S927G	probably null	Het
Map7d1	G	A	4: 126,242,308	P36S	probably damaging	Het
Mfsd13a	C	A	19: 46,372,076	H356N	probably benign	Het
Mtap	C	T	4: 89,176,914	R268C	probably benign	Het
Myo1a	C	T	10: 127,719,334		probably null	Het
Myom3	T	C	4: 135,775,551	L313P	probably benign	Het
Nrxn2	T	A	19: 6,519,268	V1391E	probably damaging	Het
Otoa	A	C	7: 121,091,551	Q3P	probably damaging	Het
Phldb1	T	C	9: 44,715,420	E576G	probably damaging	Het
Pigw	A	C	11: 84,877,066	L479R	probably damaging	Het
Pip5k1a	A	G	3: 95,063,730	I507T	probably benign	Het
Ppp4r3b	T	A	11: 29,188,123	I157N	probably benign	Het
Rrm2b	G	A	15: 37,927,322	R115*	probably null	Het
Sall1	C	T	8: 89,028,400	S1317N	probably benign	Het
Slc4a8	T	A	15: 100,800,573	F648I	probably damaging	Het
Slc5a7	T	C	17: 54,281,726	T298A	probably damaging	Het
Slit3	T	C	11: 35,659,344	L830P	probably damaging	Het
Smarcc1	T	A	9: 110,174,004	N387K	possibly damaging	Het
Tanc2	C	T	11: 105,857,500	T486I	probably benign	Het
Tdp1	C	T	12: 99,955,001	P599S	probably damaging	Het
Tmem33	A	G	5: 67,268,554	D38G	probably null	Het
Uvrag	C	T	7: 99,004,663	R247Q	probably benign	Het
Vars	T	C	17: 35,013,725	V875A	probably damaging	Het
Vcl	A	G	14: 21,024,182	E879G	probably damaging	Het
Vmn1r231	C	T	17: 20,890,609	V15I	probably benign	Het
Zfp609	T	C	9: 65,795,311	T20A	probably damaging	Het
Zfp959	T	A	17: 55,898,299	H445Q	probably damaging	Het
Zmiz2	T	A	11: 6,400,795	V515E	probably damaging	Het
Zmym5	G	A	14: 56,804,193	T151M	probably damaging	Het
Zxdc	C	T	6: 90,378,951	Q481*	probably null	Het

Other mutations in Serpinb6b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00719:Serpinb6b	APN	13	32971546	missense	probably benign	0.01
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
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

Predicted Primers

PCR Primer
(F):5'- AAGAAGTTGGCCCCTCTGCATAGC -3'
(R):5'- GGGGAGCAAGCAGATATCCTATCAGTG -3'

Sequencing Primer
(F):5'- CCTCTGCATAGCAGCCTTG -3'
(R):5'- CAAGCAGATATCCTATCAGTGCTTTC -3'

Posted On

2014-05-14