Mutagenetix > Incidental Mutation

Incidental Mutation 'R6124:Serpinb1b'

485887

Institutional Source

Beutler Lab

Gene Symbol

Serpinb1b

Ensembl Gene

ENSMUSG00000051029

Gene Name

serine (or cysteine) peptidase inhibitor, clade B, member 1b

Synonyms

EIB, ovalbumin, 6330533H24Rik

MMRRC Submission

044271-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R6124 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

33262558-33278363 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 33277796 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 343 (V343A)

Ref Sequence

ENSEMBL: ENSMUSP00000016951 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016951]

AlphaFold

Q8VHP7

Predicted Effect

probably benign
Transcript: ENSMUST00000016951
AA Change: V343A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000016951
Gene: ENSMUSG00000051029
AA Change: V343A

Domain	Start	End	E-Value	Type
SERPIN	13	382	9e-182	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	C	5: 113,331,622 (GRCm39)	N864S	probably benign	Het
Ank2	C	T	3: 127,041,800 (GRCm39)	V35M	probably benign	Het
Apc2	T	C	10: 80,142,185 (GRCm39)	M368T	probably damaging	Het
Atp8b3	G	A	10: 80,365,515 (GRCm39)	T413M	probably damaging	Het
Cxcr4	A	G	1: 128,517,397 (GRCm39)	L86P	probably damaging	Het
Cyfip1	A	G	7: 55,547,691 (GRCm39)	Y598C	probably benign	Het
Epg5	A	G	18: 78,073,260 (GRCm39)	N2428D	probably benign	Het
Fastkd3	C	T	13: 68,738,337 (GRCm39)	Q32*	probably null	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Gm5422	A	G	10: 31,125,396 (GRCm39)		noncoding transcript	Het
Gm9913	T	A	2: 125,348,393 (GRCm39)		probably benign	Het
Hgfac	A	G	5: 35,201,728 (GRCm39)	N287S	probably benign	Het
Hook3	A	T	8: 26,549,300 (GRCm39)	N181K	probably benign	Het
Hormad1	A	G	3: 95,483,613 (GRCm39)	T142A	probably benign	Het
Klrh1	A	T	6: 129,745,098 (GRCm39)	F166Y	probably benign	Het
Kplce	G	T	3: 92,776,365 (GRCm39)	P106Q	probably damaging	Het
Lonrf1	T	A	8: 36,696,354 (GRCm39)	N565I	probably damaging	Het
Mast1	A	G	8: 85,651,936 (GRCm39)	S349P	probably benign	Het
Mcee	T	A	7: 64,050,023 (GRCm39)	N51K	probably damaging	Het
Mfsd6	A	C	1: 52,747,411 (GRCm39)	F485V	probably damaging	Het
Mptx2	G	A	1: 173,102,414 (GRCm39)	L92F	probably benign	Het
Nlrp6	T	A	7: 140,503,160 (GRCm39)	V422E	probably damaging	Het
Nrap	A	G	19: 56,374,458 (GRCm39)	S23P	probably damaging	Het
Nsd2	T	A	5: 34,000,610 (GRCm39)	H42Q	probably benign	Het
Obscn	A	T	11: 58,969,870 (GRCm39)	S91T	probably benign	Het
Or10ak13	C	A	4: 118,639,392 (GRCm39)	C130F	probably damaging	Het
Or10j2	T	A	1: 173,097,846 (GRCm39)	Y35N	probably damaging	Het
Or13a20	A	T	7: 140,232,507 (GRCm39)	D205V	probably damaging	Het
Or5p72	A	T	7: 108,022,725 (GRCm39)		probably null	Het
Or6c215	G	A	10: 129,637,689 (GRCm39)	A235V	probably damaging	Het
Or6c215	C	A	10: 129,637,690 (GRCm39)	A235S	probably damaging	Het
Or6d15	T	C	6: 116,559,446 (GRCm39)	I154V	probably benign	Het
Papss2	T	A	19: 32,614,528 (GRCm39)	N81K	probably damaging	Het
Plekhn1	A	G	4: 156,309,696 (GRCm39)	I147T	possibly damaging	Het
Ptgfrn	C	T	3: 100,980,405 (GRCm39)	E312K	probably damaging	Het
Sis	T	C	3: 72,860,544 (GRCm39)	N261S	possibly damaging	Het
Slc41a2	T	C	10: 83,133,116 (GRCm39)	N310S	probably damaging	Het
Slco3a1	C	T	7: 73,968,254 (GRCm39)	D489N	probably benign	Het
Snrnp48	T	A	13: 38,400,439 (GRCm39)	I182N	possibly damaging	Het
Tppp2	A	T	14: 52,156,937 (GRCm39)	T105S	probably benign	Het
Vav3	C	T	3: 109,571,681 (GRCm39)	T201M	probably damaging	Het
Vmn1r19	A	C	6: 57,381,602 (GRCm39)	M52L	probably benign	Het
Vmn2r94	T	A	17: 18,464,321 (GRCm39)	R656S	probably benign	Het

Other mutations in Serpinb1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00493:Serpinb1b	APN	13	33,277,850 (GRCm39)	missense	probably damaging	1.00
IGL01348:Serpinb1b	APN	13	33,275,398 (GRCm39)	missense	probably benign	0.25
IGL01413:Serpinb1b	APN	13	33,277,842 (GRCm39)	missense	probably damaging	0.98
IGL01942:Serpinb1b	APN	13	33,269,294 (GRCm39)	missense	possibly damaging	0.69
IGL02065:Serpinb1b	APN	13	33,275,301 (GRCm39)	missense	possibly damaging	0.66
IGL02707:Serpinb1b	APN	13	33,275,648 (GRCm39)	missense	probably benign	0.41
IGL03149:Serpinb1b	APN	13	33,269,275 (GRCm39)	missense	possibly damaging	0.90
R0087:Serpinb1b	UTSW	13	33,269,302 (GRCm39)	missense	probably benign	0.02
R0279:Serpinb1b	UTSW	13	33,277,696 (GRCm39)	missense	possibly damaging	0.81
R0448:Serpinb1b	UTSW	13	33,273,675 (GRCm39)	missense	probably benign	0.01
R1605:Serpinb1b	UTSW	13	33,277,646 (GRCm39)	missense	possibly damaging	0.82
R1628:Serpinb1b	UTSW	13	33,277,637 (GRCm39)	missense	probably benign	0.00
R1955:Serpinb1b	UTSW	13	33,269,422 (GRCm39)	missense	probably benign	0.08
R6632:Serpinb1b	UTSW	13	33,271,438 (GRCm39)	missense	probably damaging	0.97
R7205:Serpinb1b	UTSW	13	33,271,406 (GRCm39)	missense	probably benign	0.07
R7296:Serpinb1b	UTSW	13	33,277,810 (GRCm39)	missense	probably benign	0.30
R7475:Serpinb1b	UTSW	13	33,277,548 (GRCm39)	missense	probably benign	0.01
R7624:Serpinb1b	UTSW	13	33,275,622 (GRCm39)	splice site	probably null
R7958:Serpinb1b	UTSW	13	33,273,636 (GRCm39)	missense	possibly damaging	0.90
R8058:Serpinb1b	UTSW	13	33,269,293 (GRCm39)	missense	probably benign	0.01
R8325:Serpinb1b	UTSW	13	33,277,584 (GRCm39)	missense	probably benign
R8738:Serpinb1b	UTSW	13	33,271,500 (GRCm39)	missense	probably damaging	1.00
R9001:Serpinb1b	UTSW	13	33,277,743 (GRCm39)	missense	probably benign
R9184:Serpinb1b	UTSW	13	33,269,393 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CATTGATGTCCATGTCAAATTGCC -3'
(R):5'- GGGAATGAAATGCTAAGCTCTG -3'

Sequencing Primer
(F):5'- GTCAAATTGCCCAGGTTCAAG -3'
(R):5'- GGAATGAAATGCTAAGCTCTGCCTTC -3'

Posted On

2017-08-16