Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02379:Serpina3a'

291297

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Serpina3a

Ensembl Gene

ENSMUSG00000041536

Gene Name

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

Synonyms

4933406L18Rik, alpha-1 antiproteinase,, antitrypsin

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

IGL02379

Quality Score

Status

Chromosome

Chromosomal Location

104078983-104088155 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 104084919 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 105 (S105T)

Ref Sequence

ENSEMBL: ENSMUSP00000105591 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021496] [ENSMUST00000109965] [ENSMUST00000185595]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000021496
AA Change: S295T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000021496
Gene: ENSMUSG00000041536
AA Change: S295T

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
SERPIN	58	419	1.73e-151	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109965
AA Change: S105T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000105591
Gene: ENSMUSG00000041536
AA Change: S105T

Domain	Start	End	E-Value	Type
SERPIN	4	229	5.39e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000185595
AA Change: S295T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000140024
Gene: ENSMUSG00000041536
AA Change: S295T

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
SERPIN	58	419	1.73e-151	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	T	A	5: 121,760,106 (GRCm39)	I996F	probably damaging	Het
Adamts9	T	A	6: 92,774,014 (GRCm39)	D1133V	probably damaging	Het
Adi1	T	A	12: 28,729,466 (GRCm39)	D106E	probably damaging	Het
Agl	A	G	3: 116,572,740 (GRCm39)	F837S	probably damaging	Het
Alb	T	A	5: 90,613,738 (GRCm39)	D207E	probably benign	Het
Alms1	T	G	6: 85,606,615 (GRCm39)	V2286G	probably damaging	Het
Alpl	G	A	4: 137,469,869 (GRCm39)	A485V	probably damaging	Het
Antxrl	C	A	14: 33,778,492 (GRCm39)		probably null	Het
Apc	C	T	18: 34,431,798 (GRCm39)	T417I	probably benign	Het
Ash2l	T	C	8: 26,312,799 (GRCm39)	D390G	probably damaging	Het
Asph	G	A	4: 9,474,980 (GRCm39)	P582S	probably damaging	Het
Bcr	T	A	10: 74,992,980 (GRCm39)	L825Q	probably benign	Het
Bhlha15	T	A	5: 144,128,159 (GRCm39)	N90K	probably damaging	Het
Cgnl1	T	A	9: 71,552,835 (GRCm39)	Y1043F	possibly damaging	Het
Chek1	T	C	9: 36,635,242 (GRCm39)	D47G	probably benign	Het
Clca4b	T	A	3: 144,627,619 (GRCm39)	M451L	probably benign	Het
Csnk1g3	T	C	18: 54,066,564 (GRCm39)	S346P	probably benign	Het
Cspg4	G	T	9: 56,799,893 (GRCm39)		probably benign	Het
Ctr9	A	G	7: 110,650,726 (GRCm39)	K884E	probably damaging	Het
Cyld	T	A	8: 89,471,556 (GRCm39)	C813*	probably null	Het
Fn3k	A	T	11: 121,325,950 (GRCm39)	T46S	probably benign	Het
Foxred1	T	C	9: 35,121,282 (GRCm39)	R89G	probably benign	Het
Gpr174	T	C	X: 106,337,084 (GRCm39)	F299L	probably damaging	Het
Hdac7	T	C	15: 97,706,266 (GRCm39)	D312G	probably damaging	Het
Il36b	A	G	2: 24,044,650 (GRCm39)	S17G	probably benign	Het
Kcna5	G	T	6: 126,511,472 (GRCm39)	P219T	probably damaging	Het
Kcnh2	A	C	5: 24,531,636 (GRCm39)	V425G	probably damaging	Het
Klk1b5	A	G	7: 43,500,246 (GRCm39)	N278S	probably damaging	Het
Mars2	T	A	1: 55,277,212 (GRCm39)	W272R	probably damaging	Het
Msl3l2	C	A	10: 55,992,017 (GRCm39)	S247R	possibly damaging	Het
Myh7	T	C	14: 55,216,925 (GRCm39)	E1144G	probably damaging	Het
Nefm	T	C	14: 68,357,688 (GRCm39)		probably benign	Het
Nwd2	A	G	5: 63,962,644 (GRCm39)	K743E	probably damaging	Het
Nyap2	C	T	1: 81,065,147 (GRCm39)	T53I	probably damaging	Het
Odad4	A	T	11: 100,457,809 (GRCm39)	N471Y	possibly damaging	Het
Or10ag58	T	C	2: 87,265,668 (GRCm39)	V279A	probably benign	Het
Or52z12	T	C	7: 103,234,099 (GRCm39)	V290A	possibly damaging	Het
Peli2	A	G	14: 48,405,755 (GRCm39)	H60R	probably damaging	Het
Pias2	T	A	18: 77,232,844 (GRCm39)		probably benign	Het
Pik3c2b	A	G	1: 133,022,529 (GRCm39)	D1157G	probably damaging	Het
Pip4k2a	C	T	2: 18,870,922 (GRCm39)		probably null	Het
Raf1	A	T	6: 115,621,509 (GRCm39)	D23E	probably benign	Het
Rhox10	G	A	X: 37,155,733 (GRCm39)	R87H	probably benign	Het
Rpgrip1	A	G	14: 52,376,345 (GRCm39)	T449A	possibly damaging	Het
Slc12a9	T	G	5: 137,319,691 (GRCm39)	Q608P	probably damaging	Het
Smg6	C	A	11: 74,944,751 (GRCm39)	P167T	probably damaging	Het
Spata7	C	T	12: 98,600,519 (GRCm39)	T44I	probably damaging	Het
Spink12	C	T	18: 44,239,575 (GRCm39)		probably benign	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Stag2	C	T	X: 41,339,474 (GRCm39)	T754I	probably benign	Het
Supt6	C	T	11: 78,116,195 (GRCm39)	V723M	possibly damaging	Het
Ubr3	A	G	2: 69,778,832 (GRCm39)	D614G	possibly damaging	Het
Vps39	T	A	2: 120,154,089 (GRCm39)	K624N	probably benign	Het
Vwa5b1	A	T	4: 138,340,170 (GRCm39)	L29Q	probably damaging	Het
Wtap	G	A	17: 13,188,336 (GRCm39)	A188V	probably benign	Het
Zc3hc1	A	G	6: 30,390,974 (GRCm39)	F5L	probably benign	Het
Zfp655	C	T	5: 145,180,765 (GRCm39)	P208S	probably benign	Het
Zswim3	A	T	2: 164,662,602 (GRCm39)		probably null	Het

Other mutations in Serpina3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01133:Serpina3a	APN	12	104,087,758 (GRCm39)	missense	probably benign	0.05
IGL02003:Serpina3a	APN	12	104,082,259 (GRCm39)	missense	probably benign	0.02
IGL02547:Serpina3a	APN	12	104,082,802 (GRCm39)	missense	probably damaging	0.98
IGL02593:Serpina3a	APN	12	104,084,691 (GRCm39)	missense	probably benign	0.01
IGL02730:Serpina3a	APN	12	104,085,922 (GRCm39)	missense	probably damaging	1.00
IGL02953:Serpina3a	APN	12	104,082,748 (GRCm39)	missense	probably benign	0.00
IGL03197:Serpina3a	APN	12	104,082,500 (GRCm39)	missense	probably damaging	1.00
R1184:Serpina3a	UTSW	12	104,082,787 (GRCm39)	nonsense	probably null
R1635:Serpina3a	UTSW	12	104,082,737 (GRCm39)	missense	probably damaging	1.00
R1688:Serpina3a	UTSW	12	104,084,902 (GRCm39)	missense	probably benign	0.06
R1804:Serpina3a	UTSW	12	104,084,675 (GRCm39)	splice site	probably benign
R1867:Serpina3a	UTSW	12	104,084,886 (GRCm39)	missense	probably benign	0.01
R1888:Serpina3a	UTSW	12	104,082,362 (GRCm39)	missense	probably benign	0.16
R1888:Serpina3a	UTSW	12	104,082,362 (GRCm39)	missense	probably benign	0.16
R2110:Serpina3a	UTSW	12	104,082,481 (GRCm39)	missense	probably damaging	0.97
R2111:Serpina3a	UTSW	12	104,082,481 (GRCm39)	missense	probably damaging	0.97
R2305:Serpina3a	UTSW	12	104,082,787 (GRCm39)	missense	probably benign	0.05
R2326:Serpina3a	UTSW	12	104,082,758 (GRCm39)	missense	probably benign	0.01
R2405:Serpina3a	UTSW	12	104,087,577 (GRCm39)	missense	possibly damaging	0.50
R4008:Serpina3a	UTSW	12	104,084,902 (GRCm39)	missense	probably benign	0.06
R4010:Serpina3a	UTSW	12	104,084,902 (GRCm39)	missense	probably benign	0.06
R4011:Serpina3a	UTSW	12	104,084,902 (GRCm39)	missense	probably benign	0.06
R4079:Serpina3a	UTSW	12	104,085,934 (GRCm39)	nonsense	probably null
R4091:Serpina3a	UTSW	12	104,082,625 (GRCm39)	missense	probably benign	0.01
R4092:Serpina3a	UTSW	12	104,082,625 (GRCm39)	missense	probably benign	0.01
R4210:Serpina3a	UTSW	12	104,084,902 (GRCm39)	missense	probably benign	0.06
R5064:Serpina3a	UTSW	12	104,082,448 (GRCm39)	missense	probably benign	0.01
R6242:Serpina3a	UTSW	12	104,082,260 (GRCm39)	missense	probably benign	0.10
R6337:Serpina3a	UTSW	12	104,079,137 (GRCm39)	missense	probably benign	0.36
R6395:Serpina3a	UTSW	12	104,082,710 (GRCm39)	missense	probably damaging	0.99
R6683:Serpina3a	UTSW	12	104,085,896 (GRCm39)	missense	probably benign	0.16
R6994:Serpina3a	UTSW	12	104,079,089 (GRCm39)	splice site	probably null
R7117:Serpina3a	UTSW	12	104,082,436 (GRCm39)	missense	possibly damaging	0.95
R8104:Serpina3a	UTSW	12	104,079,110 (GRCm39)	start gained	probably benign
R8131:Serpina3a	UTSW	12	104,082,467 (GRCm39)	missense	probably damaging	1.00
R9042:Serpina3a	UTSW	12	104,082,362 (GRCm39)	missense	probably benign	0.16
R9089:Serpina3a	UTSW	12	104,085,956 (GRCm39)	missense	possibly damaging	0.86
R9141:Serpina3a	UTSW	12	104,087,649 (GRCm39)	missense	probably benign	0.00
R9426:Serpina3a	UTSW	12	104,087,649 (GRCm39)	missense	probably benign	0.00
R9564:Serpina3a	UTSW	12	104,084,886 (GRCm39)	missense	probably benign	0.01

Posted On

2015-04-16