Mutagenetix > Incidental Mutation

Incidental Mutation 'R9358:Serpina1b'

708546

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

Accession Numbers

Essential gene?

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

Stock #

R9358 (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 103694653 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 364 (T364S)

Ref Sequence

ENSEMBL: ENSMUSP00000093101 (fasta)

Gene Model

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

AlphaFold

P22599

Predicted Effect

possibly damaging
Transcript: ENSMUST00000095450
AA Change: T364S

PolyPhen 2 Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000093101
Gene: ENSMUSG00000071178
AA Change: T364S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164454
AA Change: T364S

PolyPhen 2 Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000127266
Gene: ENSMUSG00000071178
AA Change: T364S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000186166
AA Change: T364S

PolyPhen 2 Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000139941
Gene: ENSMUSG00000071178
AA Change: T364S

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: 99.9%
10x: 99.6%
20x: 98.6%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	A	T	3: 121,474,976 (GRCm39)	K149*	probably null	Het
Ap3m2	G	A	8: 23,280,959 (GRCm39)	S365F	possibly damaging	Het
Apob	T	A	12: 8,060,833 (GRCm39)	I3105K	probably benign	Het
Arfgef3	A	G	10: 18,492,628 (GRCm39)	L1261P	probably damaging	Het
Armc8	A	G	9: 99,450,653 (GRCm39)		probably null	Het
Axin2	A	G	11: 108,814,873 (GRCm39)	T254A	probably benign	Het
Cachd1	G	A	4: 100,833,622 (GRCm39)	V800M	probably damaging	Het
Camta1	A	G	4: 151,222,881 (GRCm39)	L892P	probably damaging	Het
Cfap58	C	T	19: 47,962,987 (GRCm39)	R466*	probably null	Het
Cilp	A	G	9: 65,183,269 (GRCm39)	Q391R	probably benign	Het
Cracd	A	T	5: 77,002,836 (GRCm39)	I137F	probably damaging	Het
Ctcfl	T	A	2: 172,960,581 (GRCm39)	M1L	possibly damaging	Het
Dnah14	G	A	1: 181,536,598 (GRCm39)	A2414T	probably benign	Het
Dnah2	A	G	11: 69,406,592 (GRCm39)	L550P	probably damaging	Het
Erich6b	T	A	14: 75,902,668 (GRCm39)	S162T	probably benign	Het
Fbxw7	C	A	3: 84,883,561 (GRCm39)	H578Q		Het
Fer	T	C	17: 64,280,076 (GRCm39)	L418P	possibly damaging	Het
Fndc3b	A	C	3: 27,505,556 (GRCm39)	L904R	possibly damaging	Het
Gabrg1	A	T	5: 70,935,422 (GRCm39)	I249N	possibly damaging	Het
Gbe1	T	A	16: 70,238,127 (GRCm39)	D304E	probably benign	Het
Gm10549	C	T	18: 33,597,375 (GRCm39)	P54S	unknown	Het
Gpatch4	G	T	3: 87,962,452 (GRCm39)	E222*	probably null	Het
Heatr1	A	T	13: 12,433,087 (GRCm39)	T1146S	probably benign	Het
Hrc	A	C	7: 44,985,984 (GRCm39)	E378D	probably benign	Het
Hspg2	G	T	4: 137,244,909 (GRCm39)	R878L	probably damaging	Het
Igkv1-122	A	G	6: 67,993,756 (GRCm39)	M11V	probably benign	Het
Itih3	T	A	14: 30,643,885 (GRCm39)	K75*	probably null	Het
Jag1	A	G	2: 136,924,948 (GRCm39)	V1218A	probably benign	Het
Kif28	C	T	1: 179,563,695 (GRCm39)	D94N	probably benign	Het
Lama2	G	A	10: 27,064,378 (GRCm39)	T1201M	possibly damaging	Het
Lama2	A	G	10: 27,492,761 (GRCm39)	L11P	unknown	Het
Lrfn2	T	C	17: 49,403,530 (GRCm39)	V551A	probably damaging	Het
Lrrc8d	A	G	5: 105,960,358 (GRCm39)	N256S	probably benign	Het
Mindy1	C	T	3: 95,202,590 (GRCm39)	L394F	probably benign	Het
Mon2	A	G	10: 122,868,452 (GRCm39)	S534P	probably benign	Het
Mrps5	T	A	2: 127,437,734 (GRCm39)	I187N	probably benign	Het
Mto1	A	G	9: 78,364,840 (GRCm39)	M360V	probably benign	Het
Muc16	T	G	9: 18,553,520 (GRCm39)	I4258L	probably benign	Het
Myo10	A	G	15: 25,781,520 (GRCm39)	D1005G	possibly damaging	Het
Myo18b	T	A	5: 112,943,269 (GRCm39)	R1645S	possibly damaging	Het
Naip2	A	T	13: 100,298,080 (GRCm39)	V652D	probably damaging	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Ncapd2	A	T	6: 125,163,106 (GRCm39)	M134K	probably benign	Het
Nup107	A	G	10: 117,586,868 (GRCm39)	F893S	probably damaging	Het
Or10j3	A	T	1: 173,031,741 (GRCm39)	R273W	probably damaging	Het
Or11h23	A	G	14: 50,947,802 (GRCm39)	E5G	probably benign	Het
Or1e35	A	T	11: 73,797,451 (GRCm39)	I289N	probably damaging	Het
Or4f14b	A	G	2: 111,775,429 (GRCm39)	V124A	probably benign	Het
Or5p64	C	T	7: 107,854,799 (GRCm39)	C182Y	probably damaging	Het
Pcgf1	G	T	6: 83,056,433 (GRCm39)	R124L	probably benign	Het
Pdcd10	A	T	3: 75,448,533 (GRCm39)	N10K	probably damaging	Het
Pdx1	C	T	5: 147,207,064 (GRCm39)	Q6*	probably null	Het
Plcl1	T	C	1: 55,735,810 (GRCm39)	S384P	probably damaging	Het
Slc5a11	C	T	7: 122,857,775 (GRCm39)	T288I	probably damaging	Het
Slc6a1	A	T	6: 114,291,271 (GRCm39)	S515C	probably damaging	Het
Snca	A	T	6: 60,710,121 (GRCm39)	D119E	probably benign	Het
Sorcs2	T	C	5: 36,200,814 (GRCm39)	D578G	probably damaging	Het
Sulf1	T	A	1: 12,890,729 (GRCm39)	L389Q	probably damaging	Het
Thoc2l	T	C	5: 104,667,826 (GRCm39)	F783L	possibly damaging	Het
Tln1	A	C	4: 43,532,084 (GRCm39)	I2501S	possibly damaging	Het
Tmem191	A	G	16: 17,094,257 (GRCm39)	E27G	probably damaging	Het
Tmem200a	G	T	10: 25,869,677 (GRCm39)	N197K	probably benign	Het
Tmem207	A	T	16: 26,345,434 (GRCm39)	S11T	probably benign	Het
Ttn	T	C	2: 76,564,953 (GRCm39)	T28425A	probably damaging	Het
Ush2a	C	T	1: 188,607,147 (GRCm39)	T4014M	probably benign	Het
Vac14	G	A	8: 111,439,379 (GRCm39)		probably null	Het
Vmn2r32	A	T	7: 7,477,197 (GRCm39)	I398K	probably damaging	Het
Vmn2r77	A	T	7: 86,452,236 (GRCm39)	H472L	probably benign	Het
Vps45	C	T	3: 95,940,976 (GRCm39)		probably null	Het
Wdr26	T	C	1: 181,019,423 (GRCm39)	H334R	probably damaging	Het
Zfp268	A	T	4: 145,349,613 (GRCm39)	Y350F	possibly damaging	Het
Zmynd10	A	G	9: 107,426,249 (GRCm39)	D132G	possibly damaging	Het
Zpbp2	A	G	11: 98,444,774 (GRCm39)	T123A	probably benign	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
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
R9409:Serpina1b	UTSW	12	103,694,607 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCCTGTGTTTAATGGAAGGAACC -3'
(R):5'- TCACCGTGAAATGGGTCTGG -3'

Sequencing Primer
(F):5'- GTTTAATGGAAGGAACCCAATTCAG -3'
(R):5'- AATGGGTCTGGGGGATGAGC -3'

Posted On

2022-04-18