Mutagenetix > Incidental Mutation

Incidental Mutation 'R9112:Serpina1b'

692322

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 #

R9112 (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 C at 103698699 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 50 (D50G)

Ref Sequence

ENSEMBL: ENSMUSP00000093101 (fasta)

Gene Model

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

AlphaFold

P22599

Predicted Effect

probably benign
Transcript: ENSMUST00000095450
AA Change: D50G

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000093101
Gene: ENSMUSG00000071178
AA Change: D50G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000164454
AA Change: D50G

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000127266
Gene: ENSMUSG00000071178
AA Change: D50G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000186166
AA Change: D50G

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000139941
Gene: ENSMUSG00000071178
AA Change: D50G

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: 99.8%
20x: 99.3%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310033P09Rik	A	G	11: 59,100,806 (GRCm39)	S181G	possibly damaging	Het
5730596B20Rik	A	G	6: 52,156,413 (GRCm39)	R160G	unknown	Het
Acy1	A	G	9: 106,311,952 (GRCm39)	Y262H	probably benign	Het
Adamts13	T	C	2: 26,880,379 (GRCm39)	S681P	possibly damaging	Het
Adgra3	C	A	5: 50,118,395 (GRCm39)	C1051F	probably damaging	Het
Afp	T	C	5: 90,652,289 (GRCm39)		probably null	Het
Agrn	A	T	4: 156,261,514 (GRCm39)	V568E	probably damaging	Het
Ahnak	A	G	19: 8,987,149 (GRCm39)	E2811G	probably damaging	Het
Ap1m1	C	A	8: 72,994,066 (GRCm39)	Y7*	probably null	Het
Apobec1	T	A	6: 122,555,837 (GRCm39)	T207S	probably benign	Het
Arhgap32	G	A	9: 32,157,309 (GRCm39)	R102Q	probably damaging	Het
Bcat2	T	C	7: 45,237,446 (GRCm39)		probably null	Het
Cd209f	T	A	8: 4,155,802 (GRCm39)		probably benign	Het
Cox7c	G	A	13: 86,194,837 (GRCm39)		probably benign	Het
Cyp2d11	A	G	15: 82,276,203 (GRCm39)	V156A	possibly damaging	Het
Dhrs3	A	T	4: 144,653,769 (GRCm39)	T297S	probably benign	Het
Dip2c	T	C	13: 9,660,766 (GRCm39)	C876R	probably damaging	Het
Eprs1	A	T	1: 185,129,273 (GRCm39)	I587F	probably damaging	Het
Fam13c	A	G	10: 70,286,978 (GRCm39)	T81A	probably benign	Het
Flt4	A	G	11: 49,524,064 (GRCm39)	Y548C	probably damaging	Het
Garin2	T	C	12: 78,757,202 (GRCm39)		probably null	Het
Gimap4	T	A	6: 48,667,629 (GRCm39)	V128E	probably benign	Het
Gm32742	A	G	9: 51,060,735 (GRCm39)	L856P	possibly damaging	Het
Gm5916	A	G	9: 36,032,258 (GRCm39)	Y59H	probably damaging	Het
Gnai3	A	T	3: 108,030,990 (GRCm39)	H57Q		Het
Golga3	G	T	5: 110,333,757 (GRCm39)	R131L	probably benign	Het
Gpc6	A	T	14: 117,424,088 (GRCm39)	I59F	probably benign	Het
H2bc6	T	C	13: 23,769,753 (GRCm39)	M63V	possibly damaging	Het
Herc6	T	C	6: 57,596,604 (GRCm39)	S515P	probably damaging	Het
Ift74	T	C	4: 94,575,103 (GRCm39)	I518T	probably benign	Het
Kat6b	T	C	14: 21,675,256 (GRCm39)	S474P	possibly damaging	Het
Klhl3	A	C	13: 58,248,212 (GRCm39)	I28S	unknown	Het
Klrh1	T	A	6: 129,743,697 (GRCm39)	I196F	probably benign	Het
Lipi	A	G	16: 75,359,159 (GRCm39)	F259S	probably damaging	Het
Lrrc8a	T	A	2: 30,145,782 (GRCm39)	S199T	probably damaging	Het
Map2	T	A	1: 66,472,723 (GRCm39)	C1709*	probably null	Het
Mrgprf	A	G	7: 144,861,503 (GRCm39)	S22G	probably benign	Het
Myo1e	G	T	9: 70,274,983 (GRCm39)	R712L	probably benign	Het
Nras	A	T	3: 102,967,658 (GRCm39)	N85Y	probably benign	Het
Or4a71	C	T	2: 89,358,337 (GRCm39)	C139Y	probably damaging	Het
Or5b3	A	T	19: 13,388,475 (GRCm39)	I181F	probably benign	Het
Or6ae1	A	G	7: 139,742,660 (GRCm39)	S68P		Het
Or9q2	T	C	19: 13,772,780 (GRCm39)	H65R	probably damaging	Het
Pcp2	T	A	8: 3,674,638 (GRCm39)		probably benign	Het
Pigv	T	C	4: 133,392,079 (GRCm39)	R364G	probably benign	Het
Plekhh3	T	A	11: 101,061,625 (GRCm39)	S30C	probably damaging	Het
Poglut3	A	G	9: 53,295,530 (GRCm39)	Y44C	probably damaging	Het
Pramel11	A	C	4: 143,623,334 (GRCm39)	V280G	possibly damaging	Het
Pramel51	C	T	12: 88,144,055 (GRCm39)	A261T	possibly damaging	Het
Rhof	T	C	5: 123,258,571 (GRCm39)		probably benign	Het
Rufy3	A	T	5: 88,780,336 (GRCm39)	E361D		Het
Sgsm2	G	A	11: 74,756,222 (GRCm39)	Q376*	probably null	Het
Slc18b1	A	T	10: 23,692,262 (GRCm39)	I246F	probably damaging	Het
Slc38a9	A	T	13: 112,850,777 (GRCm39)	N387I	probably damaging	Het
Synrg	C	G	11: 83,862,409 (GRCm39)	P35A	probably damaging	Het
Tdrp	T	C	8: 14,005,796 (GRCm39)	K42E	probably damaging	Het
Trappc10	A	C	10: 78,029,201 (GRCm39)	M1112R	probably damaging	Het
Ube2e1	A	G	14: 18,285,203 (GRCm38)	V90A	probably damaging	Het
Vwde	C	A	6: 13,205,051 (GRCm39)	V277F	possibly damaging	Het
Zfyve16	A	G	13: 92,659,563 (GRCm39)	M116T	possibly 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
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
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'- GTGGTAGCTGATAGGAGTCAC -3'

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

Posted On

2021-12-30