Mutagenetix > Incidental Mutation

Incidental Mutation 'R7547:Serpinb6b'

584269

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

045618-MU

Accession Numbers

Essential gene?

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

Stock #

R7547 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

32965209-32979067 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 32974924 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 155 (G155D)

Ref Sequence

ENSEMBL: ENSMUSP00000105922 (fasta)

Gene Model

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

AlphaFold

O08804

Predicted Effect

probably benign
Transcript: ENSMUST00000017184
AA Change: G155D

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000017184
Gene: ENSMUSG00000042842
AA Change: G155D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000110293
AA Change: G155D

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000105922
Gene: ENSMUSG00000042842
AA Change: G155D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000164541
AA Change: G36D

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	T	4: 53,109,269	D146E	probably benign	Het
Adgrl1	C	T	8: 83,938,884	A1400V	probably benign	Het
Ank2	A	G	3: 126,945,203	V2344A	unknown	Het
Aplnr	A	T	2: 85,137,177	D182V	probably damaging	Het
Asb4	C	T	6: 5,398,350	P105L	probably damaging	Het
Ate1	C	A	7: 130,504,809	R274I	probably benign	Het
Ccdc43	A	G	11: 102,692,122	V92A	probably benign	Het
Cfap69	T	A	5: 5,604,290	N548I	possibly damaging	Het
Clpb	A	G	7: 101,664,296		probably null	Het
Ctnnal1	G	A	4: 56,817,032	R597C	probably damaging	Het
Dchs2	A	G	3: 83,356,127	K3234R	probably damaging	Het
Dnah7a	T	A	1: 53,663,837	K151N	probably benign	Het
Dnah7b	T	A	1: 46,214,413	I1826K	possibly damaging	Het
Dnttip1	A	G	2: 164,767,879	K289E	probably benign	Het
Eppk1	G	T	15: 76,107,540	Q1714K	probably benign	Het
Exoc4	A	G	6: 33,839,121	D674G	possibly damaging	Het
Galnt7	A	T	8: 57,583,962	V131D	possibly damaging	Het
Glg1	C	T	8: 111,187,761	V464M	possibly damaging	Het
Gm36079	A	T	13: 120,026,921	F31I	probably damaging	Het
Hlcs	G	T	16: 94,231,172	S444*	probably null	Het
Larp1	G	T	11: 58,052,579		probably null	Het
Macf1	T	C	4: 123,441,617	Y4386C	probably damaging	Het
Mapt	A	G	11: 104,322,312		probably null	Het
Neb	C	T	2: 52,282,625	V1557I	probably benign	Het
Nid2	A	G	14: 19,797,277	T953A	probably benign	Het
Olfr1458	T	C	19: 13,103,043	D87G	not run	Het
Papd7	G	T	13: 69,533,704	P160Q	probably benign	Het
Pax3	G	A	1: 78,122,594	Q319*	probably null	Het
Ppp2r1b	T	A	9: 50,862,462	S212R	probably benign	Het
Prss29	T	C	17: 25,320,922	L98P	probably damaging	Het
Ptch2	T	G	4: 117,109,964	L646R	probably damaging	Het
Rasa2	T	A	9: 96,611,421	E70V	probably damaging	Het
Serf2	A	G	2: 121,450,775	N65S	possibly damaging	Het
Serpinb6c	A	G	13: 33,893,892	I165T	possibly damaging	Het
Skint5	A	T	4: 113,626,588	V949E	unknown	Het
Slc11a2	A	G	15: 100,397,770	I490T	possibly damaging	Het
Slx4	T	C	16: 3,985,572	D1126G	probably benign	Het
Tln1	G	T	4: 43,545,206	A1003E	possibly damaging	Het
Tmem161b	C	A	13: 84,222,418		probably benign	Het
Trav21-dv12	T	C	14: 53,876,615	V64A	probably damaging	Het
U2surp	T	C	9: 95,479,349	E620G	possibly damaging	Het
Usp3	T	C	9: 66,542,624	N179S	possibly damaging	Het
Vps13d	T	C	4: 145,057,538	T3889A		Het
Vps35	C	T	8: 85,263,370	V670M	probably damaging	Het
Zfp626	T	C	7: 27,818,403	S270P	possibly damaging	Het
Zfp955a	C	T	17: 33,242,823	V112M	probably benign	Het
Zranb2	T	C	3: 157,541,169	S165P	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
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
R9632:Serpinb6b	UTSW	13	32971549	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- GTGTTGCTTTAAGAACAAATTCCTG -3'
(R):5'- TTGCCTAGCTACCCAAAGGC -3'

Sequencing Primer
(F):5'- TCCTGAATAATATTTAAGAGGCAGTG -3'
(R):5'- TGCCTAGCTACCCAAAGGCATATG -3'

Posted On

2019-10-17