Mutagenetix > Incidental Mutation

Incidental Mutation 'R5970:Serpina3b'

470815

Institutional Source

Beutler Lab

Gene Symbol

Serpina3b

Ensembl Gene

ENSMUSG00000066364

Gene Name

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

Synonyms

antitrypsin, A030003A19Rik, alpha-1 antiproteinase, 6A1

MMRRC Submission

044153-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R5970 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104127996-104139545 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 104134091 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Valine at position 311 (L311V)

Ref Sequence

ENSEMBL: ENSMUSP00000082127 (fasta)

Gene Model

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

AlphaFold

Q8BYY9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000085052
AA Change: L311V

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000082127
Gene: ENSMUSG00000066364
AA Change: L311V

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

98% (63/64)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1l1	G	A	6: 90,597,046 (GRCm38)		probably benign	Het
Ambn	T	C	5: 88,467,951 (GRCm38)	V413A	possibly damaging	Het
Amotl1	T	A	9: 14,596,528 (GRCm38)	D41V	probably damaging	Het
Arhgef26	T	C	3: 62,340,047 (GRCm38)	V184A	probably benign	Het
Birc6	G	T	17: 74,618,502 (GRCm38)	G936V	possibly damaging	Het
Ccser1	T	A	6: 61,311,242 (GRCm38)	S130T	possibly damaging	Het
Cecr2	A	G	6: 120,720,907 (GRCm38)	I56V	probably damaging	Het
Cfap52	A	G	11: 67,930,744 (GRCm38)	I486T	probably damaging	Het
Col4a3	A	G	1: 82,716,329 (GRCm38)	I1557V	possibly damaging	Het
Col6a5	T	A	9: 105,945,847 (GRCm38)	I104F	unknown	Het
Cry2	A	G	2: 92,412,967 (GRCm38)	S510P	probably benign	Het
Csmd2	G	C	4: 128,546,151 (GRCm38)	A3133P	probably benign	Het
Cyld	G	T	8: 88,732,993 (GRCm38)	A611S	probably damaging	Het
Dennd4c	G	A	4: 86,825,512 (GRCm38)	G1197E	probably damaging	Het
Dnah10	T	C	5: 124,808,729 (GRCm38)	F2969L	probably benign	Het
Dnaic1	A	G	4: 41,625,281 (GRCm38)	K415R	probably benign	Het
Dnmbp	T	A	19: 43,854,171 (GRCm38)	T1253S	probably benign	Het
Dsp	T	C	13: 38,195,702 (GRCm38)	L1542P	possibly damaging	Het
Duox1	T	A	2: 122,340,201 (GRCm38)	L1234Q	probably damaging	Het
Efr3b	T	A	12: 3,968,590 (GRCm38)	R585S	possibly damaging	Het
Gpt	A	G	15: 76,699,352 (GRCm38)		probably null	Het
Heatr6	G	A	11: 83,753,718 (GRCm38)		probably benign	Het
Kcns2	A	G	15: 34,839,784 (GRCm38)	D431G	probably benign	Het
Kdm3b	A	G	18: 34,829,289 (GRCm38)	N1543D	probably damaging	Het
Man2a1	A	G	17: 64,625,380 (GRCm38)	K154R	probably benign	Het
Mical3	G	A	6: 120,958,271 (GRCm38)	Q893*	probably null	Het
Morc3	C	T	16: 93,866,453 (GRCm38)	H515Y	possibly damaging	Het
Mprip	A	T	11: 59,757,721 (GRCm38)	R750S	probably damaging	Het
Mroh1	G	A	15: 76,451,491 (GRCm38)	V1436M	probably benign	Het
Muc5ac	C	T	7: 141,790,669 (GRCm38)	R69*	probably null	Het
Muc5b	A	T	7: 141,856,712 (GRCm38)	Y1274F	unknown	Het
Mybpc1	A	G	10: 88,542,456 (GRCm38)	L674P	probably damaging	Het
Mypn	A	G	10: 63,131,023 (GRCm38)	V958A	probably benign	Het
Nipbl	T	C	15: 8,296,818 (GRCm38)	T2436A	probably benign	Het
Olfr835	A	G	9: 19,035,147 (GRCm38)	D8G	probably benign	Het
Pcdhb5	T	A	18: 37,321,773 (GRCm38)	L402Q	probably damaging	Het
Pigp	T	A	16: 94,370,194 (GRCm38)		probably null	Het
Rp1	A	G	1: 4,348,462 (GRCm38)	L809P	probably benign	Het
Scn3a	T	A	2: 65,494,781 (GRCm38)		probably benign	Het
Sdf2	A	T	11: 78,246,080 (GRCm38)	M29L	probably benign	Het
Snx31	A	T	15: 36,523,488 (GRCm38)	Y349*	probably null	Het
Spidr	A	C	16: 16,114,869 (GRCm38)	C182W	probably damaging	Het
St13	A	T	15: 81,377,798 (GRCm38)	S146R	probably damaging	Het
St8sia4	A	G	1: 95,653,582 (GRCm38)	V145A	probably damaging	Het
Stradb	T	C	1: 58,980,016 (GRCm38)		probably null	Het
Tcp11l2	T	A	10: 84,594,797 (GRCm38)		probably benign	Het
Tfdp2	C	T	9: 96,317,574 (GRCm38)	P74S	unknown	Het
Tmprss15	C	T	16: 79,057,659 (GRCm38)	R287H	probably benign	Het
Trav10d	T	C	14: 52,811,322 (GRCm38)	Y57H	probably damaging	Het
Vmn2r104	A	G	17: 20,029,471 (GRCm38)	I846T	probably benign	Het
Ywhah	T	A	5: 33,026,948 (GRCm38)	M165K	possibly damaging	Het
Zfp324	C	A	7: 12,969,366 (GRCm38)	P72T	probably benign	Het

Other mutations in Serpina3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00164:Serpina3b	APN	12	104,138,787 (GRCm38)	missense	probably benign	0.03
IGL00427:Serpina3b	APN	12	104,132,941 (GRCm38)	missense	probably benign	0.06
IGL01637:Serpina3b	APN	12	104,132,957 (GRCm38)	missense	probably benign	0.00
IGL01738:Serpina3b	APN	12	104,130,832 (GRCm38)	missense	probably damaging	1.00
IGL02403:Serpina3b	APN	12	104,130,462 (GRCm38)	start codon destroyed	probably null	1.00
IGL03118:Serpina3b	APN	12	104,131,054 (GRCm38)	missense	probably benign	0.22
R0141:Serpina3b	UTSW	12	104,130,771 (GRCm38)	missense	probably damaging	1.00
R0217:Serpina3b	UTSW	12	104,130,727 (GRCm38)	missense	probably damaging	1.00
R0437:Serpina3b	UTSW	12	104,130,670 (GRCm38)	missense	probably damaging	1.00
R1295:Serpina3b	UTSW	12	104,130,879 (GRCm38)	missense	probably damaging	1.00
R1463:Serpina3b	UTSW	12	104,138,710 (GRCm38)	missense	probably benign	0.02
R1802:Serpina3b	UTSW	12	104,138,637 (GRCm38)	missense	probably damaging	1.00
R2104:Serpina3b	UTSW	12	104,138,810 (GRCm38)	missense	probably benign	0.01
R3871:Serpina3b	UTSW	12	104,138,788 (GRCm38)	missense	probably damaging	1.00
R4720:Serpina3b	UTSW	12	104,130,630 (GRCm38)	missense	possibly damaging	0.80
R5827:Serpina3b	UTSW	12	104,130,777 (GRCm38)	missense	probably benign	0.02
R6014:Serpina3b	UTSW	12	104,131,097 (GRCm38)	missense	possibly damaging	0.93
R6102:Serpina3b	UTSW	12	104,134,169 (GRCm38)	missense	probably benign	0.00
R6673:Serpina3b	UTSW	12	104,130,669 (GRCm38)	missense	probably damaging	0.96
R6807:Serpina3b	UTSW	12	104,132,992 (GRCm38)	missense	probably benign	0.00
R6836:Serpina3b	UTSW	12	104,134,082 (GRCm38)	missense	probably benign	0.30
R6893:Serpina3b	UTSW	12	104,133,026 (GRCm38)	missense	probably benign	0.04
R7414:Serpina3b	UTSW	12	104,132,886 (GRCm38)	missense	probably benign	0.03
R7539:Serpina3b	UTSW	12	104,130,711 (GRCm38)	missense	possibly damaging	0.75
R7748:Serpina3b	UTSW	12	104,130,463 (GRCm38)	start codon destroyed	probably null	1.00
R7817:Serpina3b	UTSW	12	104,132,964 (GRCm38)	missense	probably benign	0.01
R8040:Serpina3b	UTSW	12	104,131,076 (GRCm38)	missense	probably benign	0.00
R8143:Serpina3b	UTSW	12	104,130,534 (GRCm38)	missense	probably benign	0.06
R8360:Serpina3b	UTSW	12	104,138,703 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CACCAAGTCAGTTTGCCTGTC -3'
(R):5'- CAGGATTCAAAGTGAATGAGCC -3'

Sequencing Primer
(F):5'- TGTCCACTGTAAACACTCTCAGG -3'
(R):5'- TCAAAGTGAATGAGCCGTGTTCC -3'

Posted On

2017-03-31