Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02403:Serpina3b'

291948

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Serpina3b

Ensembl Gene

ENSMUSG00000066364

Gene Name

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

Synonyms

antitrypsin, A030003A19Rik, alpha-1 antiproteinase, 6A1

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

IGL02403

Quality Score

Status

Chromosome

Chromosomal Location

104127996-104139545 bp(+) (GRCm38)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to G at 104130462 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 1 (M1V)

Ref Sequence

ENSEMBL: ENSMUSP00000082127 (fasta)

Gene Model

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

AlphaFold

Q8BYY9

Predicted Effect

probably null
Transcript: ENSMUST00000085052
AA Change: M1V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000082127
Gene: ENSMUSG00000066364
AA Change: M1V

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110043O21Rik	A	G	4: 35,205,887		probably benign	Het
4932438A13Rik	T	C	3: 37,030,664	S3922P	probably benign	Het
Abcc8	A	G	7: 46,105,803		probably null	Het
Alk	C	A	17: 71,901,393	G944V	probably damaging	Het
Alox15	T	C	11: 70,345,901	D446G	probably damaging	Het
Apof	A	G	10: 128,269,484		probably null	Het
Arhgap28	T	G	17: 67,873,159	D81A	possibly damaging	Het
Bms1	T	C	6: 118,405,224	E451G	possibly damaging	Het
Capn13	T	A	17: 73,351,426	T216S	possibly damaging	Het
Ccdc28a	A	T	10: 18,214,183		probably benign	Het
Cdip1	T	C	16: 4,768,812	T150A	probably damaging	Het
Chrnb3	T	A	8: 27,393,808	L191Q	probably damaging	Het
Chst2	G	A	9: 95,405,232	Q354*	probably null	Het
Cldn11	T	C	3: 31,150,196	V16A	probably benign	Het
Cyp4f18	A	G	8: 71,998,228	M198T	probably damaging	Het
Dhx30	A	G	9: 110,091,519	L280P	probably damaging	Het
Disc1	A	G	8: 125,135,519		probably benign	Het
Dnm1l	T	C	16: 16,336,976	I172V	possibly damaging	Het
Edem2	T	C	2: 155,709,063	D328G	possibly damaging	Het
Fbxo10	G	A	4: 45,062,517	T3M	probably benign	Het
Fdxacb1	T	A	9: 50,771,563	S275R	possibly damaging	Het
Gm7275	C	A	16: 48,073,628		noncoding transcript	Het
Helz2	A	T	2: 181,231,022	I2468N	probably damaging	Het
Ift46	C	A	9: 44,786,879	P213Q	probably damaging	Het
Irf2	G	T	8: 46,846,172	V334F	probably damaging	Het
Lrp4	T	A	2: 91,508,582	V1786E	probably benign	Het
Mfsd5	A	G	15: 102,280,538	Y115C	probably benign	Het
Muc5ac	A	G	7: 141,803,450	R1154G	possibly damaging	Het
Nek4	G	T	14: 30,964,051	E314*	probably null	Het
Oas2	C	T	5: 120,748,750	G117D	possibly damaging	Het
Olfr1057	A	T	2: 86,374,523	D296E	probably benign	Het
Pikfyve	C	T	1: 65,244,504	H767Y	probably damaging	Het
Pkhd1	T	C	1: 20,562,418	H591R	probably benign	Het
Pygl	T	A	12: 70,194,258	I672F	probably benign	Het
Rft1	G	T	14: 30,660,321		probably benign	Het
Ripor3	A	C	2: 167,989,330	L517R	probably damaging	Het
Sgce	C	T	6: 4,694,059	R263Q	probably damaging	Het
Stard6	A	T	18: 70,496,112		probably null	Het
Them4	T	C	3: 94,323,671	F117L	probably damaging	Het
Tmem214	G	A	5: 30,872,746	A296T	probably benign	Het
Ttc26	A	G	6: 38,409,438	M365V	possibly damaging	Het
Vmn2r116	G	T	17: 23,387,364	D417Y	probably damaging	Het

Other mutations in Serpina3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00164:Serpina3b	APN	12	104138787	missense	probably benign	0.03
IGL00427:Serpina3b	APN	12	104132941	missense	probably benign	0.06
IGL01637:Serpina3b	APN	12	104132957	missense	probably benign	0.00
IGL01738:Serpina3b	APN	12	104130832	missense	probably damaging	1.00
IGL03118:Serpina3b	APN	12	104131054	missense	probably benign	0.22
R0141:Serpina3b	UTSW	12	104130771	missense	probably damaging	1.00
R0217:Serpina3b	UTSW	12	104130727	missense	probably damaging	1.00
R0437:Serpina3b	UTSW	12	104130670	missense	probably damaging	1.00
R1295:Serpina3b	UTSW	12	104130879	missense	probably damaging	1.00
R1463:Serpina3b	UTSW	12	104138710	missense	probably benign	0.02
R1802:Serpina3b	UTSW	12	104138637	missense	probably damaging	1.00
R2104:Serpina3b	UTSW	12	104138810	missense	probably benign	0.01
R3871:Serpina3b	UTSW	12	104138788	missense	probably damaging	1.00
R4720:Serpina3b	UTSW	12	104130630	missense	possibly damaging	0.80
R5827:Serpina3b	UTSW	12	104130777	missense	probably benign	0.02
R5970:Serpina3b	UTSW	12	104134091	missense	possibly damaging	0.82
R6014:Serpina3b	UTSW	12	104131097	missense	possibly damaging	0.93
R6102:Serpina3b	UTSW	12	104134169	missense	probably benign	0.00
R6673:Serpina3b	UTSW	12	104130669	missense	probably damaging	0.96
R6807:Serpina3b	UTSW	12	104132992	missense	probably benign	0.00
R6836:Serpina3b	UTSW	12	104134082	missense	probably benign	0.30
R6893:Serpina3b	UTSW	12	104133026	missense	probably benign	0.04
R7414:Serpina3b	UTSW	12	104132886	missense	probably benign	0.03
R7539:Serpina3b	UTSW	12	104130711	missense	possibly damaging	0.75
R7748:Serpina3b	UTSW	12	104130463	start codon destroyed	probably null	1.00
R7817:Serpina3b	UTSW	12	104132964	missense	probably benign	0.01
R8040:Serpina3b	UTSW	12	104131076	missense	probably benign	0.00
R8143:Serpina3b	UTSW	12	104130534	missense	probably benign	0.06
R8360:Serpina3b	UTSW	12	104138703	missense	probably benign	0.00

Posted On

2015-04-16