Mutagenetix > Incidental Mutation

Incidental Mutation 'R6061:Serpinb6b'

483246

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

044226-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R6061 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

32965209-32979067 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32977994 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 259 (T259A)

Ref Sequence

ENSEMBL: ENSMUSP00000105922 (fasta)

Gene Model

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

AlphaFold

O08804

Predicted Effect

probably benign
Transcript: ENSMUST00000017184

SMART Domains

Protein: ENSMUSP00000017184
Gene: ENSMUSG00000042842

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000110293
AA Change: T259A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105922
Gene: ENSMUSG00000042842
AA Change: T259A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164541
AA Change: T140A

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	C	6: 128,568,712	F484C	probably damaging	Het
Cdsn	A	G	17: 35,554,906	S111G	unknown	Het
Ctnnal1	T	C	4: 56,812,349	T726A	probably benign	Het
Cyp2j11	T	A	4: 96,348,616		probably benign	Het
Ddx60	T	A	8: 62,023,241	M1541K	probably null	Het
Dnah14	C	T	1: 181,709,051	P2420S	probably damaging	Het
Doxl2	A	C	6: 48,976,601	I487L	probably benign	Het
Fhit	T	C	14: 9,573,435	E205G	probably benign	Het
Glipr1l1	C	T	10: 112,076,170	T203M	probably benign	Het
Gm4353	T	A	7: 116,084,269	D97V	probably benign	Het
Gprc6a	A	T	10: 51,615,811	I543K	probably damaging	Het
Ifi205	T	C	1: 174,027,264	T110A	possibly damaging	Het
Med27	T	A	2: 29,509,441	S95T	probably damaging	Het
Mocs1	T	C	17: 49,450,313	S308P	probably damaging	Het
Mrpl11	C	T	19: 4,963,369	S88F	possibly damaging	Het
Nav3	A	T	10: 109,866,984	Y229*	probably null	Het
Olfr138	A	G	17: 38,274,881	M37V	probably benign	Het
Olfr38	A	T	6: 42,762,965	L304F	probably damaging	Het
Olfr569	C	A	7: 102,887,951	L67F	probably benign	Het
Olfr668	C	T	7: 104,925,392	R124H	probably benign	Het
Olfr996	T	A	2: 85,579,542	M101K	possibly damaging	Het
Pear1	A	G	3: 87,755,931	I460T	probably benign	Het
Phc3	T	A	3: 30,914,529	K816N	probably damaging	Het
Phf19	T	A	2: 34,897,117	D445V	probably damaging	Het
Pkd2l2	T	C	18: 34,430,689	F486L	probably damaging	Het
Plagl1	G	T	10: 13,127,895		probably benign	Het
Prkca	A	G	11: 108,057,845	I106T	probably benign	Het
Ptpn3	C	T	4: 57,248,681	G218R	probably damaging	Het
Ptx3	A	G	3: 66,224,709	D217G	possibly damaging	Het
Rab3d	T	C	9: 21,910,519	T209A	probably benign	Het
Rfx2	A	G	17: 56,777,473	F642S	possibly damaging	Het
Rhpn2	T	A	7: 35,376,211	M271K	possibly damaging	Het
Speer3	G	A	5: 13,794,691	V123M	possibly damaging	Het
Svil	T	G	18: 5,106,724	V1855G	probably damaging	Het
Thbs4	A	G	13: 92,751,795	F950L	probably benign	Het
Tiparp	T	C	3: 65,553,243	V551A	probably damaging	Het
Vmn2r71	T	A	7: 85,619,274	D228E	probably benign	Het
Vmn2r85	T	C	10: 130,425,662	I269V	probably benign	Het
Vps9d1	A	T	8: 123,245,671	M497K	probably damaging	Het
Wnt5b	A	G	6: 119,433,642	V241A	probably damaging	Het
Xdh	T	C	17: 73,921,347	N353S	probably damaging	Het
Zfp526	C	T	7: 25,226,332	T672M	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
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
R9632:Serpinb6b	UTSW	13	32971549	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- TCCTAGGCTCCCATGATCAC -3'
(R):5'- TGTGAATGACCTTGGACAGAAAC -3'

Sequencing Primer
(F):5'- TGGAACCCAGAGCCTGAAGC -3'
(R):5'- GGACAGAAACAAGCCTTCTTTAG -3'

Posted On

2017-07-14