Mutagenetix > Incidental Mutation

Incidental Mutation 'R6522:Serpina1b'

540730

Institutional Source

Beutler Lab

Gene Symbol

Serpina1b

Ensembl Gene

ENSMUSG00000071178

Gene Name

serine (or cysteine) preptidase inhibitor, clade A, member 1B

Synonyms

PI2, D12Ucla2, Spi1-2

MMRRC Submission

044648-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.158) question?

Stock #

R6522 (G1)

Quality Score

81.0075

Status

Validated

Chromosome

Chromosomal Location

103694415-103704448 bp(-) (GRCm39)

Type of Mutation

splice site (134 bp from exon)

DNA Base Change (assembly)

A to C at 103701296 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141006 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000187220]

AlphaFold

P22599

Predicted Effect

probably null
Transcript: ENSMUST00000187220

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.3%

Validation Efficiency

100% (56/56)

MGI Phenotype

PHENOTYPE: Targeted disruption of this gene leads to significantly fewer than expected heterozygous and homozygous offspring from heterozygous matings. Homozygotes are healthy with no obvious changes in major organs while heterozygotes show a 30% decrease in serum anti-elastase and anti-chymotrypsin activity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	C	A	10: 10,253,636 (GRCm39)	E1209*	probably null	Het
Adgrg5	G	T	8: 95,668,696 (GRCm39)	R503L	probably benign	Het
Anks1b	C	T	10: 90,733,189 (GRCm39)		probably benign	Het
Anxa5	A	T	3: 36,519,451 (GRCm39)	F13I	probably damaging	Het
Bicd1	A	G	6: 149,385,503 (GRCm39)	I79V	probably benign	Het
Bnip1	A	G	17: 27,008,719 (GRCm39)	D107G	probably damaging	Het
Ccdc42	A	G	11: 68,479,046 (GRCm39)	E78G	probably damaging	Het
Ccnk	A	G	12: 108,153,446 (GRCm39)	D69G	probably damaging	Het
Clec2i	G	T	6: 128,870,692 (GRCm39)	V77F	probably damaging	Het
Clec4g	A	C	8: 3,768,803 (GRCm39)	V62G	probably benign	Het
Col4a4	G	A	1: 82,465,304 (GRCm39)	A957V	unknown	Het
Csnk1d	A	G	11: 120,862,449 (GRCm39)	F277L	probably damaging	Het
Dip2c	G	A	13: 9,625,264 (GRCm39)		probably null	Het
Dpf2	T	A	19: 5,955,560 (GRCm39)	K108*	probably null	Het
Dync1h1	G	A	12: 110,583,171 (GRCm39)	D423N	probably damaging	Het
Fbxl13	T	C	5: 21,766,554 (GRCm39)		probably null	Homo
Flad1	T	C	3: 89,310,490 (GRCm39)	R488G	probably damaging	Het
Galnt6	A	C	15: 100,591,236 (GRCm39)	*623E	probably null	Het
Gtf2e1	T	C	16: 37,331,816 (GRCm39)	T420A	possibly damaging	Het
Hspg2	T	C	4: 137,282,586 (GRCm39)	V3442A	probably damaging	Het
Itpr1	A	G	6: 108,365,237 (GRCm39)	D55G	probably damaging	Het
Kdm2a	C	A	19: 4,374,854 (GRCm39)	R759L	possibly damaging	Het
Kif19a	A	G	11: 114,676,605 (GRCm39)	E478G	probably damaging	Het
Lamb3	G	A	1: 193,017,761 (GRCm39)	V881I	probably benign	Het
Map3k6	T	C	4: 132,977,335 (GRCm39)	L894P	possibly damaging	Het
Mast4	A	G	13: 102,897,801 (GRCm39)		probably null	Het
Mst1r	G	A	9: 107,790,438 (GRCm39)	V684M	probably benign	Het
Naa15	T	C	3: 51,378,935 (GRCm39)	S727P	probably damaging	Het
Nap1l1	T	C	10: 111,330,084 (GRCm39)	L330S	probably damaging	Het
Nav2	A	G	7: 49,247,281 (GRCm39)	T2205A	probably damaging	Het
Ncf2	T	C	1: 152,703,214 (GRCm39)		probably null	Het
Opa1	T	A	16: 29,444,332 (GRCm39)	N839K	probably benign	Het
Or4c104	T	C	2: 88,586,452 (GRCm39)	D189G	probably damaging	Het
Or52a33	T	C	7: 103,288,504 (GRCm39)	Y281C	probably damaging	Het
Or52n4b	G	A	7: 108,144,202 (GRCm39)	V155I	probably benign	Het
Pcdha7	T	C	18: 37,106,995 (GRCm39)	Y7H	possibly damaging	Het
Pcdhb15	T	C	18: 37,607,314 (GRCm39)	V182A	probably benign	Het
Phf10	A	T	17: 15,176,269 (GRCm39)	I128N	probably damaging	Het
Plce1	T	A	19: 38,736,965 (GRCm39)		probably null	Het
Plxnb2	T	C	15: 89,048,629 (GRCm39)	N626S	probably benign	Het
Prh1	G	A	6: 132,548,996 (GRCm39)	G168R	unknown	Het
Prss51	A	G	14: 64,334,855 (GRCm39)	T137A	possibly damaging	Het
Ptprcap	C	T	19: 4,206,183 (GRCm39)	R89C	possibly damaging	Het
Scfd1	A	G	12: 51,478,324 (GRCm39)	K512R	probably benign	Het
Setbp1	T	C	18: 78,900,605 (GRCm39)	T1021A	probably damaging	Het
Slco1b2	G	A	6: 141,601,145 (GRCm39)		probably null	Het
Snrnp200	C	T	2: 127,063,747 (GRCm39)	T642I	probably benign	Het
Tenm4	A	C	7: 96,492,251 (GRCm39)	I1063L	possibly damaging	Het
Tfb2m	G	A	1: 179,373,611 (GRCm39)	A29V	probably benign	Het
Tfeb	T	C	17: 48,100,627 (GRCm39)	V140A	probably damaging	Het
Tmem104	A	T	11: 115,134,579 (GRCm39)	I372F	probably damaging	Het
Tmem132d	G	T	5: 127,860,832 (GRCm39)	H1096Q	probably benign	Het
Trim12c	A	T	7: 103,997,531 (GRCm39)	N8K	probably benign	Het
Tti2	A	G	8: 31,643,631 (GRCm39)	I249V	probably null	Het
Vps8	T	A	16: 21,261,129 (GRCm39)	L90I	probably damaging	Het
Vwf	A	T	6: 125,639,926 (GRCm39)		probably null	Het
Wdfy4	A	G	14: 32,868,901 (GRCm39)	S376P	probably damaging	Het

Other mutations in Serpina1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00544:Serpina1b	APN	12	103,695,555 (GRCm39)	missense	possibly damaging	0.90
IGL00990:Serpina1b	APN	12	103,694,525 (GRCm39)	missense	probably damaging	1.00
IGL01947:Serpina1b	APN	12	103,695,576 (GRCm39)	missense	probably benign	0.00
IGL03258:Serpina1b	APN	12	103,696,655 (GRCm39)	missense	probably benign	0.00
IGL03392:Serpina1b	APN	12	103,698,329 (GRCm39)	missense	possibly damaging	0.53
R1937:Serpina1b	UTSW	12	103,698,420 (GRCm39)	missense	probably benign	0.00
R2383:Serpina1b	UTSW	12	103,694,539 (GRCm39)	missense	probably benign
R3789:Serpina1b	UTSW	12	103,695,531 (GRCm39)	missense	probably damaging	1.00
R4690:Serpina1b	UTSW	12	103,698,639 (GRCm39)	missense	probably damaging	1.00
R5164:Serpina1b	UTSW	12	103,698,346 (GRCm39)	missense	probably benign	0.01
R5650:Serpina1b	UTSW	12	103,694,694 (GRCm39)	critical splice acceptor site	probably null
R6017:Serpina1b	UTSW	12	103,695,531 (GRCm39)	missense	probably damaging	1.00
R6241:Serpina1b	UTSW	12	103,695,515 (GRCm39)	splice site	probably null
R6745:Serpina1b	UTSW	12	103,696,614 (GRCm39)	missense	possibly damaging	0.60
R6884:Serpina1b	UTSW	12	103,698,712 (GRCm39)	missense	probably benign	0.00
R7053:Serpina1b	UTSW	12	103,698,688 (GRCm39)	missense	possibly damaging	0.93
R7208:Serpina1b	UTSW	12	103,694,553 (GRCm39)	missense	probably benign	0.04
R7679:Serpina1b	UTSW	12	103,696,774 (GRCm39)	missense	probably damaging	1.00
R7908:Serpina1b	UTSW	12	103,694,566 (GRCm39)	missense	possibly damaging	0.65
R8056:Serpina1b	UTSW	12	103,784,137 (GRCm39)	intron	probably benign
R8237:Serpina1b	UTSW	12	103,785,063 (GRCm39)	splice site	probably null
R9092:Serpina1b	UTSW	12	103,696,540 (GRCm39)	missense	probably benign	0.00
R9112:Serpina1b	UTSW	12	103,698,699 (GRCm39)	missense	probably benign	0.08
R9123:Serpina1b	UTSW	12	103,696,566 (GRCm39)	missense	probably damaging	1.00
R9310:Serpina1b	UTSW	12	103,698,756 (GRCm39)	missense	probably benign	0.03
R9358:Serpina1b	UTSW	12	103,694,653 (GRCm39)	missense	possibly damaging	0.61
R9409:Serpina1b	UTSW	12	103,694,607 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCCTCATGTTGGGGATATGC -3'
(R):5'- TCCTTGGCACTAAGTCAAATGTC -3'

Sequencing Primer
(F):5'- CCTCATGTTGGGGATATGCAAACC -3'
(R):5'- TTGCTCCTTAGAAGCCAAGG -3'

Posted On

2018-11-19