Mutagenetix > Incidental Mutation

Incidental Mutation 'R7053:Serpina1b'

547732

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

045150-MU

Accession Numbers

Essential gene?

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

Stock #

R7053 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103694415-103704448 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103698688 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 54 (S54C)

Ref Sequence

ENSEMBL: ENSMUSP00000139941 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095450] [ENSMUST00000164454] [ENSMUST00000186166] [ENSMUST00000187220]

AlphaFold

P22599

Predicted Effect

possibly damaging
Transcript: ENSMUST00000095450
AA Change: S54C

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000093101
Gene: ENSMUSG00000071178
AA Change: S54C

Domain	Start	End	E-Value	Type
SERPIN	53	410	7.62e-203	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164454
AA Change: S54C

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000127266
Gene: ENSMUSG00000071178
AA Change: S54C

Domain	Start	End	E-Value	Type
SERPIN	53	410	7.62e-203	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000186166
AA Change: S54C

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000139941
Gene: ENSMUSG00000071178
AA Change: S54C

Domain	Start	End	E-Value	Type
SERPIN	53	410	7.62e-203	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000187220

Coding Region Coverage

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

Validation Efficiency

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	A	T	8: 44,021,836 (GRCm39)	C551*	probably null	Het
Aldh1l1	C	A	6: 90,540,420 (GRCm39)	T235K	possibly damaging	Het
Atp6v0a2	A	G	5: 124,783,923 (GRCm39)	E257G	probably damaging	Het
AW146154	A	G	7: 41,131,988 (GRCm39)		probably null	Het
BC048507	T	C	13: 68,011,772 (GRCm39)	Y50H	probably benign	Het
Brip1	T	C	11: 86,083,791 (GRCm39)	N77D	possibly damaging	Het
Ccdc13	T	C	9: 121,662,904 (GRCm39)	E37G	probably damaging	Het
Ccn6	A	G	10: 39,034,297 (GRCm39)	Y102H	probably damaging	Het
Col27a1	T	A	4: 63,251,404 (GRCm39)		probably benign	Het
Corin	T	A	5: 72,458,870 (GRCm39)	I960L	probably benign	Het
Csnk2b	A	G	17: 35,335,422 (GRCm39)		probably benign	Het
Cyp2d26	T	C	15: 82,676,801 (GRCm39)	S182G	probably benign	Het
Dennd1a	A	G	2: 37,851,666 (GRCm39)	L74P	probably damaging	Het
Dip2c	A	G	13: 9,660,740 (GRCm39)	D838G	probably damaging	Het
Dkkl1	G	T	7: 44,857,022 (GRCm39)	Q182K	probably damaging	Het
Dnai2	T	C	11: 114,629,521 (GRCm39)	S183P	probably damaging	Het
Dnhd1	T	C	7: 105,344,161 (GRCm39)	L1835P	probably damaging	Het
Espl1	T	C	15: 102,225,328 (GRCm39)		probably null	Het
Fam174a	C	T	1: 95,252,953 (GRCm39)	A185V	probably damaging	Het
Fhip1b	C	T	7: 105,033,779 (GRCm39)	G479D	probably damaging	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,554 (GRCm39)		probably benign	Het
Grid2	G	T	6: 64,677,402 (GRCm39)	A74S	unknown	Het
Gsdma3	T	A	11: 98,520,621 (GRCm39)	M84K	possibly damaging	Het
Hlcs	A	T	16: 94,068,874 (GRCm39)	S262R	possibly damaging	Het
Lrp1	A	G	10: 127,376,963 (GRCm39)	C4205R	probably damaging	Het
Mdc1	C	T	17: 36,157,218 (GRCm39)	A181V	probably benign	Het
Mdga2	T	A	12: 66,736,158 (GRCm39)	I357F	probably benign	Het
Mfn1	A	G	3: 32,586,114 (GRCm39)	I21V	probably benign	Het
Mgat4b	C	T	11: 50,124,367 (GRCm39)	T409M	probably damaging	Het
Mgat4d	G	T	8: 84,098,261 (GRCm39)	K341N	probably damaging	Het
Mpo	A	T	11: 87,694,336 (GRCm39)	N109Y	probably damaging	Het
Mvp	T	C	7: 126,586,776 (GRCm39)	Q785R	possibly damaging	Het
Nim1k	A	G	13: 120,189,145 (GRCm39)	V88A	probably damaging	Het
Oasl2	A	T	5: 115,049,291 (GRCm39)	I464L	possibly damaging	Het
Or5m11b	G	T	2: 85,806,358 (GRCm39)	C257F	possibly damaging	Het
Pkd1l2	A	G	8: 117,740,681 (GRCm39)	F2139L	probably damaging	Het
Pop1	T	G	15: 34,530,421 (GRCm39)	S940A	probably benign	Het
Ppp1r9a	T	A	6: 4,905,670 (GRCm39)	M75K	probably damaging	Het
Prdm15	G	A	16: 97,595,742 (GRCm39)	Q1029*	probably null	Het
Rffl	T	C	11: 82,703,497 (GRCm39)	K142R	probably null	Het
Rhou	A	G	8: 124,380,934 (GRCm39)		probably benign	Het
Rp1l1	A	T	14: 64,268,958 (GRCm39)	T1515S	possibly damaging	Het
Slc30a2	G	A	4: 134,074,726 (GRCm39)	R161Q	probably damaging	Het
Taok3	T	A	5: 117,390,627 (GRCm39)	D529E	probably benign	Het
Tmem18	T	A	12: 30,634,506 (GRCm39)	M1K	probably null	Het
Tmem269	T	A	4: 119,066,464 (GRCm39)	H198L	probably damaging	Het
Tnrc18	A	G	5: 142,772,984 (GRCm39)	V432A	unknown	Het
Ttc6	A	T	12: 57,707,318 (GRCm39)	T742S	probably benign	Het
Uhrf2	T	A	19: 30,069,519 (GRCm39)	C749S	probably damaging	Het
Unc13c	G	A	9: 73,839,579 (GRCm39)	T424I	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r61	A	C	7: 41,916,557 (GRCm39)	D390A	probably damaging	Het
Xpo7	A	G	14: 70,922,298 (GRCm39)		probably null	Het
Zfp948	T	A	17: 21,805,121 (GRCm39)	L37*	probably null	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
R6522:Serpina1b	UTSW	12	103,701,296 (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
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'- ACTTGTGGATGTCAGCCTCC -3'
(R):5'- GTGGTAGCTGATAGGAGTCACC -3'

Sequencing Primer
(F):5'- ATGTCAGCCTCCGATGTTTG -3'
(R):5'- GCTGATAGGAGTCACCACAGC -3'

Posted On

2019-05-13