Mutagenetix > Incidental Mutation

Incidental Mutation 'R7770:Serpinb6b'

598544

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

045826-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R7770 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32965209-32979067 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32977529 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 195 (V195A)

Ref Sequence

ENSEMBL: ENSMUSP00000105922 (fasta)

Gene Model

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

AlphaFold

O08804

Predicted Effect

silent
Transcript: ENSMUST00000017184

SMART Domains

Protein: ENSMUSP00000017184
Gene: ENSMUSG00000042842

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

Predicted Effect

probably benign
Transcript: ENSMUST00000110293
AA Change: V195A

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000105922
Gene: ENSMUSG00000042842
AA Change: V195A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000164541
AA Change: V76A

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	T	9: 57,258,611	V160E	probably damaging	Het
Abhd8	C	T	8: 71,458,250	G305S	probably benign	Het
Adamts20	A	G	15: 94,333,698	V870A	probably benign	Het
Agl	A	G	3: 116,758,237		probably null	Het
Cav3	A	T	6: 112,472,186	D55V	probably damaging	Het
Ccser2	T	A	14: 36,926,874	D556V	probably damaging	Het
Cdc20b	T	C	13: 113,078,659	Y254H	probably benign	Het
Commd8	A	G	5: 72,159,880	L182S	probably damaging	Het
Cyp1b1	G	A	17: 79,713,299	A338V	probably damaging	Het
Def8	C	A	8: 123,460,059	D459E	unknown	Het
Dennd5b	T	C	6: 149,041,716	Y554C	probably damaging	Het
Dnah7c	A	T	1: 46,626,300		probably null	Het
Dnajc5b	T	A	3: 19,579,017	C135S	probably benign	Het
Dnpep	G	A	1: 75,317,246		probably benign	Het
Drc1	C	T	5: 30,350,512	Q293*	probably null	Het
Glmp	A	G	3: 88,325,770	S72G	probably benign	Het
Gm5431	A	T	11: 48,888,458	S546T	probably benign	Het
Gnptab	T	A	10: 88,411,920	C70S	probably benign	Het
Gpr83	G	A	9: 14,866,874	R180Q	probably damaging	Het
Gucy1a1	A	T	3: 82,108,805	L292Q	possibly damaging	Het
Gzmd	T	C	14: 56,131,263	D58G	probably damaging	Het
Hoxa10	A	G	6: 52,234,265	S224P	possibly damaging	Het
Hoxa13	G	A	6: 52,260,267		probably benign	Het
Igsf6	A	G	7: 121,068,325	V156A	probably benign	Het
Il6st	A	T	13: 112,502,804	I649F	probably damaging	Het
Kcnh3	G	A	15: 99,233,266	V507M	probably damaging	Het
Lgr5	A	G	10: 115,471,994	I253T	probably damaging	Het
Met	T	A	6: 17,491,407	V56D	possibly damaging	Het
Mettl22	A	T	16: 8,485,900	I277F	possibly damaging	Het
Nadsyn1	G	A	7: 143,806,003	R411W	probably damaging	Het
Nrros	T	G	16: 32,143,528	E557A	probably benign	Het
Olfr1057	C	T	2: 86,375,260	V51M	possibly damaging	Het
Olfr1134	T	C	2: 87,656,469	I151V	not run	Het
Olfr1338	A	T	4: 118,754,057	H162Q	probably benign	Het
Pih1d2	G	A	9: 50,621,801	R243Q	not run	Het
Polr1b	C	A	2: 129,125,544	F952L	probably damaging	Het
Ppp1r3a	A	G	6: 14,754,978	V90A	probably benign	Het
Prmt9	T	A	8: 77,559,185		probably null	Het
Rapgef4	T	A	2: 72,198,395	N385K	possibly damaging	Het
Rbm28	G	A	6: 29,164,628		probably benign	Het
Rhobtb3	A	T	13: 75,917,815	S150T	probably damaging	Het
Sesn1	T	A	10: 41,894,058	I99N	probably damaging	Het
Setd1b	G	A	5: 123,158,752		probably benign	Het
Slc22a19	T	A	19: 7,703,995		probably null	Het
Slc9a4	T	C	1: 40,600,963	I305T	probably damaging	Het
Smg6	T	A	11: 74,993,861	N3K	unknown	Het
Spta1	C	A	1: 174,195,981	Y651*	probably null	Het
Tatdn3	G	A	1: 191,058,856	P74S	probably benign	Het
Tet2	C	T	3: 133,480,295	R1127Q	possibly damaging	Het
Tgfbi	T	A	13: 56,632,844		probably null	Het
Tmprss9	A	G	10: 80,898,069		probably null	Het
Tox4	T	C	14: 52,279,842	Y10H	probably damaging	Het
Trappc10	A	T	10: 78,210,845	S407T	probably damaging	Het
Vmn2r59	A	G	7: 42,058,912	C24R	probably damaging	Het
Wdr24	C	A	17: 25,827,096	A465D	probably benign	Het
Wfdc8	A	G	2: 164,597,674	S263P	unknown	Het
Zc3h15	T	A	2: 83,658,132	I138N	possibly 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
R7732:Serpinb6b	UTSW	13	32968607	missense	probably damaging	1.00
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
R9632:Serpinb6b	UTSW	13	32971549	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- ACCTGTTTGGAGATTGAGTCAG -3'
(R):5'- AAAGCCCCATGTTCCTTACC -3'

Sequencing Primer
(F):5'- CACCTTGAAAAATGGGCCTGTG -3'
(R):5'- AGCCCCATGTTCCTTACCATACTTAG -3'

Posted On

2019-11-26