Mutagenetix > Incidental Mutations

Incidental Mutation 'R7732:Serpinb6b'

595929

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

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.149) question?

Stock #

R7732 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32965209-32979067 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 32968607 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 33 (S33N)

Ref Sequence

ENSEMBL: ENSMUSP00000105922 (fasta)

Gene Model

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

AlphaFold

O08804

Predicted Effect

probably damaging
Transcript: ENSMUST00000017184
AA Change: S33N

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

SMART Domains

Protein: ENSMUSP00000017184
Gene: ENSMUSG00000042842
AA Change: S33N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000110293
AA Change: S33N

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

SMART Domains

Protein: ENSMUSP00000105922
Gene: ENSMUSG00000042842
AA Change: S33N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000164541

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (73/73)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	A	T	15: 91,191,248	S121T	possibly damaging	Het
Alpk1	T	C	3: 127,684,392	M69V		Het
Ap3m2	G	T	8: 22,797,089	D192E	probably benign	Het
Arel1	A	G	12: 84,927,889	V493A	probably benign	Het
Arhgap27	T	C	11: 103,340,043	H140R	probably benign	Het
Bcat2	C	T	7: 45,585,193	T166M	possibly damaging	Het
Brd4	C	A	17: 32,221,412	A318S	unknown	Het
Cabp4	T	A	19: 4,135,995	T270S	probably benign	Het
Cd22	G	A	7: 30,870,057	R545C	probably damaging	Het
Cdc23	C	A	18: 34,636,702		probably null	Het
Chst4	G	A	8: 110,029,882	Q450*	probably null	Het
Ctsc	G	A	7: 88,297,159	R132Q	probably damaging	Het
Cyhr1	C	T	15: 76,648,186	D241N	probably benign	Het
Cyp2b19	A	G	7: 26,771,344	D470G	possibly damaging	Het
Dcc	C	T	18: 71,446,435	G689D	probably benign	Het
Disc1	G	T	8: 125,250,975	G779*	probably null	Het
Dock1	T	G	7: 134,744,970	D210E	probably benign	Het
Dynlt1a	A	G	17: 6,314,945	V14A	probably benign	Het
Epha10	A	G	4: 124,915,299	D779G		Het
Eprs	A	G	1: 185,372,939	H137R	probably benign	Het
Eps15l1	A	C	8: 72,380,976	L447R	probably damaging	Het
Esyt1	A	G	10: 128,521,825		probably null	Het
Fam221a	A	G	6: 49,372,629	K43E	probably benign	Het
Fanci	A	G	7: 79,412,652	S309G	possibly damaging	Het
Fbxo48	T	A	11: 16,953,601	W76R	probably damaging	Het
Fgd4	A	G	16: 16,484,595	V32A	probably benign	Het
Foxe1	A	T	4: 46,345,287	D365V	unknown	Het
Gabrd	C	T	4: 155,385,618	R378H	probably benign	Het
Gm3417	A	G	17: 14,967,685	V109A	probably benign	Het
Greb1	A	G	12: 16,673,863	S1862P	probably damaging	Het
H2al2b	T	C	Y: 2,720,436	H80R	possibly damaging	Het
Hectd4	T	C	5: 121,336,629	V2771A	probably benign	Het
Hoxa11	A	T	6: 52,243,435	F289L	probably damaging	Het
Hsp90aa1	A	G	12: 110,693,418	V412A	probably damaging	Het
Igsf11	A	G	16: 39,008,798	Q77R	probably damaging	Het
Lrig1	C	A	6: 94,626,377	M263I	probably benign	Het
Ms4a14	C	T	19: 11,301,683	M1170I	probably benign	Het
Ndufs7	G	A	10: 80,253,784		probably null	Het
Nectin4	A	T	1: 171,386,678	E467V	probably benign	Het
Olfr933	A	G	9: 38,976,264	E196G	probably damaging	Het
Otogl	G	A	10: 107,806,664	H1302Y	probably benign	Het
Pigg	A	G	5: 108,318,975	S241G	probably benign	Het
Pom121l12	T	A	11: 14,599,843	V183D	probably damaging	Het
Prickle2	T	A	6: 92,411,224	E455V	probably damaging	Het
Ptpn4	A	C	1: 119,692,802	V488G	probably benign	Het
Ranbp10	A	G	8: 105,773,091	I502T	probably benign	Het
Raph1	T	A	1: 60,533,288	Q40L	possibly damaging	Het
Rgs22	A	T	15: 36,025,981	C1056S	probably damaging	Het
Serpinb6d	A	G	13: 33,669,099	N158S	probably benign	Het
Serping1	A	T	2: 84,770,104	V298D	probably damaging	Het
Sgsm1	T	A	5: 113,266,330	H637L	probably benign	Het
Sh3rf2	G	T	18: 42,101,688	V179L	probably damaging	Het
Slc1a3	T	C	15: 8,650,988	T129A	probably benign	Het
Slit1	T	A	19: 41,604,408	Y1202F	probably benign	Het
Spsb2	T	C	6: 124,809,693	S130P	probably damaging	Het
Sulf1	A	G	1: 12,842,789	D749G	probably benign	Het
Taok3	A	G	5: 117,193,748	E10G	possibly damaging	Het
Tbl3	G	T	17: 24,704,162	A368D	probably benign	Het
Tdh	T	A	14: 63,496,058	H127L	probably damaging	Het
Tmem205	C	A	9: 21,927,407		probably null	Het
Tmem30a	A	C	9: 79,780,544	F114L	possibly damaging	Het
Tmem55b	C	T	14: 50,930,633	G48D	possibly damaging	Het
Tmprss15	T	C	16: 79,003,420	K607E	probably benign	Het
Tnxb	A	T	17: 34,694,280	D1756V	probably damaging	Het
Trhde	A	G	10: 114,788,064	F312L	probably benign	Het
Ttn	G	A	2: 76,826,449	P12494L	probably null	Het
Vmn2r61	A	G	7: 42,266,673	R237G	probably benign	Het
Vps13c	A	T	9: 67,940,516	N2187Y	probably damaging	Het
Wdr64	A	G	1: 175,789,929	T692A	probably benign	Het
Whamm	A	G	7: 81,571,424	N35D	probably damaging	Het
Wnt2	T	C	6: 18,023,336	S105G	probably damaging	Het
Zfp108	T	A	7: 24,261,527	H514Q	probably benign	Het
Znfx1	T	C	2: 167,042,669	K888E	possibly damaging	Het
Zzz3	T	C	3: 152,448,842	Y577H	probably damaging	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
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
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'- TGTCAGTGGCAGCAAAGATG -3'
(R):5'- TGGTCAAAATACTCATGCCAGG -3'

Sequencing Primer
(F):5'- GCAGGTTGCATATTAATTACCCC -3'
(R):5'- AGCAGGGCTAGCACATCCTTC -3'

Posted On

2019-11-12