Mutagenetix > Incidental Mutation

Incidental Mutation 'R7424:Serpinb6b'

575945

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

045502-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R7424 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32965209-32979067 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32968667 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 53 (M53K)

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: M53K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000017184
Gene: ENSMUSG00000042842
AA Change: M53K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000110293
AA Change: M53K

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105922
Gene: ENSMUSG00000042842
AA Change: M53K

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

Validation Efficiency

99% (76/77)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	C	T	8: 120,145,545 (GRCm38)	R71C	probably damaging	Het
Aanat	A	T	11: 116,595,629 (GRCm38)		probably benign	Het
Ahrr	G	T	13: 74,257,545 (GRCm38)	S91*	probably null	Het
Ampd1	A	T	3: 103,088,442 (GRCm38)	N223Y	probably benign	Het
Ankar	T	G	1: 72,680,058 (GRCm38)	N544T	probably damaging	Het
Ankk1	A	G	9: 49,418,750 (GRCm38)	S302P	possibly damaging	Het
Bcr	T	C	10: 75,157,100 (GRCm38)	V809A	probably benign	Het
Bpifb2	A	G	2: 153,890,540 (GRCm38)	N353S	possibly damaging	Het
Cyth1	A	T	11: 118,184,009 (GRCm38)		probably null	Het
Ddx5	A	T	11: 106,782,180 (GRCm38)	N506K	probably benign	Het
Dnaja1	A	T	4: 40,730,244 (GRCm38)	I239F	probably benign	Het
Ethe1	C	T	7: 24,606,251 (GRCm38)	T141I	probably damaging	Het
Fhip2b	T	C	14: 70,594,007 (GRCm38)	H29R	probably damaging	Het
Gdap2	A	T	3: 100,202,066 (GRCm38)	I36F	unknown	Het
Gm13030	A	T	4: 138,871,266 (GRCm38)	D115E	unknown	Het
Gm17019	A	T	5: 15,029,372 (GRCm38)	L227Q	probably damaging	Het
Gm9195	T	A	14: 72,435,777 (GRCm38)	E2517D	possibly damaging	Het
Gramd2a	T	A	9: 59,708,071 (GRCm38)	V39D	possibly damaging	Het
Hmcn1	C	T	1: 150,630,266 (GRCm38)	W3836*	probably null	Het
Hspa14	C	T	2: 3,489,041 (GRCm38)	D494N	possibly damaging	Het
Ifit2	A	G	19: 34,573,198 (GRCm38)	N46S	probably benign	Het
Ifna6	A	T	4: 88,827,807 (GRCm38)	E131V	possibly damaging	Het
Ift140	T	C	17: 25,037,036 (GRCm38)	V504A	possibly damaging	Het
Irgc	T	C	7: 24,432,228 (GRCm38)	N388S	probably damaging	Het
Itgal	T	A	7: 127,317,365 (GRCm38)	V743E	probably benign	Het
Itih5	T	C	2: 10,245,637 (GRCm38)	S716P	probably damaging	Het
Kcnab1	A	T	3: 65,266,503 (GRCm38)	K78N	possibly damaging	Het
Kif1a	A	T	1: 93,054,317 (GRCm38)	V787E	possibly damaging	Het
Krt15	A	T	11: 100,135,560 (GRCm38)	V100E	possibly damaging	Het
Krt39	A	T	11: 99,518,091 (GRCm38)	V293E	probably damaging	Het
Lrrn4	A	G	2: 132,869,743 (GRCm38)	F720S	possibly damaging	Het
Map2	G	A	1: 66,414,824 (GRCm38)	A958T	possibly damaging	Het
Map3k9	A	G	12: 81,724,097 (GRCm38)	S906P	probably benign	Het
Mdc1	T	C	17: 35,853,309 (GRCm38)	S1250P	probably benign	Het
Meltf	G	A	16: 31,884,946 (GRCm38)	V164I	probably damaging	Het
Mtap	T	G	4: 89,179,462 (GRCm38)		probably null	Het
Mtus1	C	A	8: 41,022,406 (GRCm38)	V184F	probably damaging	Het
Myh1	A	T	11: 67,213,663 (GRCm38)	D1015V	probably damaging	Het
Ndrg1	T	C	15: 66,944,938 (GRCm38)		probably null	Het
Nkd1	G	T	8: 88,585,175 (GRCm38)	V130L	probably benign	Het
Nsfl1c	A	G	2: 151,500,753 (GRCm38)	D81G	probably benign	Het
Nt5c1b	T	A	12: 10,381,391 (GRCm38)		probably null	Het
Nucb1	T	C	7: 45,498,778 (GRCm38)	K204E	possibly damaging	Het
Nwd1	T	G	8: 72,675,173 (GRCm38)	M774R	possibly damaging	Het
Or2m13	A	T	16: 19,407,194 (GRCm38)	V274E	probably damaging	Het
Or52u1	G	C	7: 104,588,700 (GRCm38)	E299Q	probably damaging	Het
Or5an1c	A	T	19: 12,240,954 (GRCm38)	S236T	possibly damaging	Het
Pan3	T	A	5: 147,536,272 (GRCm38)		probably null	Het
Pcdh15	A	T	10: 74,506,485 (GRCm38)	T1135S	probably benign	Het
Pfas	A	G	11: 69,000,092 (GRCm38)	I331T	probably damaging	Het
Plxna2	T	A	1: 194,806,339 (GRCm38)	I1641N	probably damaging	Het
Pramel27	C	T	4: 143,853,209 (GRCm38)	P455S	probably benign	Het
Ptar1	A	T	19: 23,718,101 (GRCm38)	R311W	probably damaging	Het
Ranbp2	T	G	10: 58,479,194 (GRCm38)	M1912R	probably damaging	Het
Rbm12	A	G	2: 156,097,303 (GRCm38)	F350L	possibly damaging	Het
Sdhaf1	T	C	7: 30,322,043 (GRCm38)	D96G	probably benign	Het
Sh2d6	A	T	6: 72,517,164 (GRCm38)	L147Q	probably benign	Het
Slc19a2	T	A	1: 164,260,876 (GRCm38)	C298S	probably benign	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,660,334 (GRCm38)		probably benign	Het
St8sia2	T	A	7: 73,960,902 (GRCm38)	Q211L	possibly damaging	Het
Sult2a2	T	C	7: 13,734,897 (GRCm38)	I96T	possibly damaging	Het
Tab2	G	T	10: 7,907,483 (GRCm38)	H678Q	probably damaging	Het
Tnfaip6	A	G	2: 52,038,216 (GRCm38)	E14G	probably benign	Het
Trip11	A	T	12: 101,885,198 (GRCm38)	L869H	probably damaging	Het
Tslp	T	C	18: 32,819,080 (GRCm38)	Y133H	not run	Het
Ttn	A	G	2: 76,932,143 (GRCm38)	V3374A	unknown	Het
Ttn	T	C	2: 76,740,990 (GRCm38)	I26520V	probably damaging	Het
Tubgcp2	T	A	7: 140,007,924 (GRCm38)	I263F	possibly damaging	Het
Uaca	A	G	9: 60,870,110 (GRCm38)	E593G	probably damaging	Het
Unc13b	C	T	4: 43,172,235 (GRCm38)	T1021I	unknown	Het
Ush1c	T	A	7: 46,225,555 (GRCm38)	I131F	probably benign	Het
Usp24	C	A	4: 106,379,107 (GRCm38)	D997E	probably benign	Het
Usp54	T	C	14: 20,577,040 (GRCm38)	T517A	probably benign	Het
Vmn1r151	A	T	7: 22,499,080 (GRCm38)	M200K	possibly damaging	Het
Vmn2r43	T	C	7: 8,255,329 (GRCm38)	D295G	probably damaging	Het
Vmn2r70	G	A	7: 85,563,868 (GRCm38)	P444S	probably damaging	Het
Vmn2r85	G	T	10: 130,418,980 (GRCm38)	P612T	probably damaging	Het
Vps13d	A	T	4: 145,148,747 (GRCm38)	V1736D		Het
Zbtb11	A	T	16: 55,990,487 (GRCm38)	H336L	probably benign	Het

Other mutations in Serpinb6b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00719:Serpinb6b	APN	13	32,971,546 (GRCm38)	missense	probably benign	0.01
IGL01077:Serpinb6b	APN	13	32,978,066 (GRCm38)	missense	possibly damaging	0.68
IGL01553:Serpinb6b	APN	13	32,974,948 (GRCm38)	missense	probably damaging	1.00
IGL02981:Serpinb6b	APN	13	32,971,606 (GRCm38)	missense	probably benign	0.34
R0308:Serpinb6b	UTSW	13	32,978,237 (GRCm38)	missense	probably benign	0.09
R1568:Serpinb6b	UTSW	13	32,974,912 (GRCm38)	missense	probably damaging	1.00
R1692:Serpinb6b	UTSW	13	32,974,995 (GRCm38)	missense	probably damaging	1.00
R1763:Serpinb6b	UTSW	13	32,978,058 (GRCm38)	missense	probably damaging	1.00
R1917:Serpinb6b	UTSW	13	32,978,240 (GRCm38)	missense	probably benign
R1918:Serpinb6b	UTSW	13	32,978,240 (GRCm38)	missense	probably benign
R1919:Serpinb6b	UTSW	13	32,978,240 (GRCm38)	missense	probably benign
R1920:Serpinb6b	UTSW	13	32,975,008 (GRCm38)	missense	possibly damaging	0.47
R3032:Serpinb6b	UTSW	13	32,968,568 (GRCm38)	missense	possibly damaging	0.78
R4239:Serpinb6b	UTSW	13	32,972,263 (GRCm38)	missense	probably damaging	0.96
R5089:Serpinb6b	UTSW	13	32,978,150 (GRCm38)	missense	probably benign
R5503:Serpinb6b	UTSW	13	32,977,659 (GRCm38)	missense	possibly damaging	0.95
R5540:Serpinb6b	UTSW	13	32,977,558 (GRCm38)	nonsense	probably null
R6061:Serpinb6b	UTSW	13	32,977,994 (GRCm38)	missense	probably damaging	0.99
R6253:Serpinb6b	UTSW	13	32,972,272 (GRCm38)	missense	probably damaging	1.00
R7156:Serpinb6b	UTSW	13	32,971,615 (GRCm38)	missense	probably benign	0.09
R7248:Serpinb6b	UTSW	13	32,977,576 (GRCm38)	missense	probably benign	0.23
R7315:Serpinb6b	UTSW	13	32,972,257 (GRCm38)	missense	probably benign	0.41
R7547:Serpinb6b	UTSW	13	32,974,924 (GRCm38)	missense	probably benign	0.05
R7732:Serpinb6b	UTSW	13	32,968,607 (GRCm38)	missense	probably damaging	1.00
R7770:Serpinb6b	UTSW	13	32,977,529 (GRCm38)	missense	probably benign	0.05
R7802:Serpinb6b	UTSW	13	32,971,596 (GRCm38)
R8814:Serpinb6b	UTSW	13	32,978,304 (GRCm38)	missense	possibly damaging	0.94
R8966:Serpinb6b	UTSW	13	32,978,052 (GRCm38)	missense	probably damaging	1.00
R8988:Serpinb6b	UTSW	13	32,978,142 (GRCm38)	missense	probably benign	0.45
R9037:Serpinb6b	UTSW	13	32,978,015 (GRCm38)	nonsense	probably null
R9129:Serpinb6b	UTSW	13	32,978,156 (GRCm38)	small deletion	probably benign
R9377:Serpinb6b	UTSW	13	32,968,511 (GRCm38)	start codon destroyed	probably null	1.00
R9415:Serpinb6b	UTSW	13	32,975,019 (GRCm38)	missense
R9632:Serpinb6b	UTSW	13	32,971,549 (GRCm38)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- TCCAGGCTTACCATCATGGATC -3'
(R):5'- TTACGGTGAAATGGAGCCTG -3'

Sequencing Primer
(F):5'- AGGCTTACCATCATGGATCCACTG -3'
(R):5'- GGAACTGGTCAAAATACTCATGC -3'

Posted On

2019-10-07