Mutagenetix > Incidental Mutation

Incidental Mutation 'R1295:Serpina3b'

158085

Institutional Source

Beutler Lab

Gene Symbol

Serpina3b

Ensembl Gene

ENSMUSG00000066364

Gene Name

serine (or cysteine) peptidase inhibitor, clade A, member 3B

Synonyms

alpha-1 antiproteinase, 6A1, antitrypsin, A030003A19Rik

MMRRC Submission

039361-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R1295 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104094255-104105804 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104097138 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 140 (F140L)

Ref Sequence

ENSEMBL: ENSMUSP00000082127 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085052]

AlphaFold

Q8BYY9

Predicted Effect

probably damaging
Transcript: ENSMUST00000085052
AA Change: F140L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000082127
Gene: ENSMUSG00000066364
AA Change: F140L

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
SERPIN	56	417	1.1e-153	SMART

Meta Mutation Damage Score

0.7094

Coding Region Coverage

1x: 98.7%
3x: 97.4%
10x: 93.1%
20x: 82.0%

Validation Efficiency

98% (81/83)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr2	A	G	9: 121,737,783 (GRCm39)	S53G	possibly damaging	Het
Adgrb1	T	A	15: 74,421,888 (GRCm39)	L886Q	probably damaging	Het
Adprhl1	G	A	8: 13,298,624 (GRCm39)	T102M	probably damaging	Het
Akap6	A	C	12: 52,933,812 (GRCm39)	K435Q	probably damaging	Het
Aldh7a1	T	C	18: 56,680,022 (GRCm39)		probably null	Het
Amfr	T	C	8: 94,701,432 (GRCm39)	R507G	probably benign	Het
Ap1m1	T	A	8: 73,005,719 (GRCm39)		probably null	Het
Arhgap29	A	G	3: 121,786,044 (GRCm39)	H275R	probably benign	Het
Arhgef17	C	A	7: 100,530,476 (GRCm39)	E428*	probably null	Het
Atm	A	T	9: 53,367,830 (GRCm39)	V2431E	probably damaging	Het
Atn1	G	T	6: 124,724,750 (GRCm39)	P161Q	unknown	Het
Atp13a2	T	C	4: 140,721,113 (GRCm39)	S99P	probably damaging	Het
Ccar1	C	A	10: 62,619,661 (GRCm39)		probably null	Het
Cdk18	T	C	1: 132,047,698 (GRCm39)		probably benign	Het
Cep85	A	G	4: 133,894,711 (GRCm39)	W32R	probably damaging	Het
Col5a3	A	G	9: 20,719,714 (GRCm39)	F215S	unknown	Het
Decr1	T	C	4: 15,919,207 (GRCm39)	N312S	possibly damaging	Het
Diaph3	A	T	14: 87,244,835 (GRCm39)	W178R	probably damaging	Het
Dync2h1	A	G	9: 7,075,752 (GRCm39)		probably benign	Het
Ehd3	C	A	17: 74,135,181 (GRCm39)	D352E	probably damaging	Het
Enpp6	T	G	8: 47,518,535 (GRCm39)	I221S	probably benign	Het
Fam186a	T	C	15: 99,837,670 (GRCm39)		probably benign	Het
Gm5435	G	T	12: 82,542,558 (GRCm39)		noncoding transcript	Het
Gpr22	A	C	12: 31,759,513 (GRCm39)	I203S	probably benign	Het
Gpr61	A	G	3: 108,057,797 (GRCm39)	V288A	possibly damaging	Het
Grik3	G	A	4: 125,598,357 (GRCm39)		probably benign	Het
Gstcd	T	C	3: 132,711,389 (GRCm39)	N431D	probably damaging	Het
H1f5	T	C	13: 21,964,169 (GRCm39)	S186G	probably benign	Het
Haao	T	A	17: 84,146,267 (GRCm39)	Q69L	probably benign	Het
Ift140	G	T	17: 25,307,907 (GRCm39)		probably null	Het
Ikbke	A	G	1: 131,197,963 (GRCm39)	V381A	probably benign	Het
Ing1	T	A	8: 11,611,502 (GRCm39)	I38N	probably damaging	Het
Ing1	A	C	8: 11,611,501 (GRCm39)	I38L	probably benign	Het
Itga4	A	G	2: 79,153,033 (GRCm39)	M907V	possibly damaging	Het
Kcnk12	C	T	17: 88,053,801 (GRCm39)	G287D	probably damaging	Het
Kmt2e	A	C	5: 23,707,402 (GRCm39)	H1655P	probably damaging	Het
Mbtd1	A	G	11: 93,801,185 (GRCm39)	Y122C	probably damaging	Het
Mif-ps9	T	A	19: 56,743,766 (GRCm39)		noncoding transcript	Het
Mslnl	T	C	17: 25,962,214 (GRCm39)	L204P	probably damaging	Het
Muc6	T	C	7: 141,238,144 (GRCm39)	E112G	probably benign	Het
Nav3	T	A	10: 109,527,963 (GRCm39)	D2240V	probably damaging	Het
Ndufaf3	T	C	9: 108,443,892 (GRCm39)	T9A	probably damaging	Het
Numb	C	A	12: 83,842,935 (GRCm39)		probably benign	Het
Prodh2	T	C	7: 30,193,514 (GRCm39)	V79A	probably damaging	Het
Psmb2	A	G	4: 126,580,825 (GRCm39)	Y73C	probably damaging	Het
Rmnd5a	G	A	6: 71,375,439 (GRCm39)	L80F	probably benign	Het
Rnf19a	G	T	15: 36,244,247 (GRCm39)	Y604*	probably null	Het
Ros1	T	A	10: 51,964,028 (GRCm39)	E1744V	possibly damaging	Het
Rpusd2	T	C	2: 118,867,408 (GRCm39)	F219L	probably benign	Het
Sall2	T	C	14: 52,551,182 (GRCm39)	N671S	probably damaging	Het
Sele	T	A	1: 163,878,379 (GRCm39)	S239R	probably damaging	Het
Stxbp1	A	T	2: 32,684,648 (GRCm39)	S594T	probably benign	Het
Sufu	G	A	19: 46,443,159 (GRCm39)		probably benign	Het
Tbx2	A	G	11: 85,725,592 (GRCm39)	E181G	probably damaging	Het
Thumpd2	A	G	17: 81,363,317 (GRCm39)	V50A	probably damaging	Het
Tlcd4	A	G	3: 121,000,940 (GRCm39)	V231A	probably benign	Het
Ttn	C	A	2: 76,573,589 (GRCm39)	R17441L	probably damaging	Het
Usp34	A	G	11: 23,334,477 (GRCm39)	Y1157C	probably damaging	Het
Vmn1r9	T	C	6: 57,048,522 (GRCm39)	V199A	probably damaging	Het
Vmn2r6	A	G	3: 64,445,694 (GRCm39)	F677S	probably damaging	Het
Vmn2r84	C	T	10: 130,225,008 (GRCm39)	A501T	probably benign	Het
Wapl	C	T	14: 34,446,726 (GRCm39)	P605S	probably damaging	Het
Zfp598	A	G	17: 24,898,623 (GRCm39)	N474S	probably benign	Het
Zfyve26	A	G	12: 79,321,694 (GRCm39)	L975P	probably damaging	Het
Zp3r	C	T	1: 130,519,181 (GRCm39)	G255D	probably damaging	Het

Other mutations in Serpina3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00164:Serpina3b	APN	12	104,105,046 (GRCm39)	missense	probably benign	0.03
IGL00427:Serpina3b	APN	12	104,099,200 (GRCm39)	missense	probably benign	0.06
IGL01637:Serpina3b	APN	12	104,099,216 (GRCm39)	missense	probably benign	0.00
IGL01738:Serpina3b	APN	12	104,097,091 (GRCm39)	missense	probably damaging	1.00
IGL02403:Serpina3b	APN	12	104,096,721 (GRCm39)	start codon destroyed	probably null	1.00
IGL03118:Serpina3b	APN	12	104,097,313 (GRCm39)	missense	probably benign	0.22
R0141:Serpina3b	UTSW	12	104,097,030 (GRCm39)	missense	probably damaging	1.00
R0217:Serpina3b	UTSW	12	104,096,986 (GRCm39)	missense	probably damaging	1.00
R0437:Serpina3b	UTSW	12	104,096,929 (GRCm39)	missense	probably damaging	1.00
R1463:Serpina3b	UTSW	12	104,104,969 (GRCm39)	missense	probably benign	0.02
R1802:Serpina3b	UTSW	12	104,104,896 (GRCm39)	missense	probably damaging	1.00
R2104:Serpina3b	UTSW	12	104,105,069 (GRCm39)	missense	probably benign	0.01
R3871:Serpina3b	UTSW	12	104,105,047 (GRCm39)	missense	probably damaging	1.00
R4720:Serpina3b	UTSW	12	104,096,889 (GRCm39)	missense	possibly damaging	0.80
R5827:Serpina3b	UTSW	12	104,097,036 (GRCm39)	missense	probably benign	0.02
R5970:Serpina3b	UTSW	12	104,100,350 (GRCm39)	missense	possibly damaging	0.82
R6014:Serpina3b	UTSW	12	104,097,356 (GRCm39)	missense	possibly damaging	0.93
R6102:Serpina3b	UTSW	12	104,100,428 (GRCm39)	missense	probably benign	0.00
R6673:Serpina3b	UTSW	12	104,096,928 (GRCm39)	missense	probably damaging	0.96
R6807:Serpina3b	UTSW	12	104,099,251 (GRCm39)	missense	probably benign	0.00
R6836:Serpina3b	UTSW	12	104,100,341 (GRCm39)	missense	probably benign	0.30
R6893:Serpina3b	UTSW	12	104,099,285 (GRCm39)	missense	probably benign	0.04
R7414:Serpina3b	UTSW	12	104,099,145 (GRCm39)	missense	probably benign	0.03
R7539:Serpina3b	UTSW	12	104,096,970 (GRCm39)	missense	possibly damaging	0.75
R7748:Serpina3b	UTSW	12	104,096,722 (GRCm39)	start codon destroyed	probably null	1.00
R7817:Serpina3b	UTSW	12	104,099,223 (GRCm39)	missense	probably benign	0.01
R8040:Serpina3b	UTSW	12	104,097,335 (GRCm39)	missense	probably benign	0.00
R8143:Serpina3b	UTSW	12	104,096,793 (GRCm39)	missense	probably benign	0.06
R8360:Serpina3b	UTSW	12	104,104,962 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTGACTCTGGGAGCAAAGGGCAAC -3'
(R):5'- ACACAGGTTCCAAGGCAGCATC -3'

Sequencing Primer
(F):5'- GCAACACCTTGGAAGAGATTC -3'
(R):5'- AGATGTATTGCCATCCATGTCTGAG -3'

Posted On

2014-02-18