Mutagenetix > Incidental Mutations

Incidental Mutation 'R2305:Serpina3a'

244568

Institutional Source

Beutler Lab

Gene Symbol

Serpina3a

Ensembl Gene

ENSMUSG00000041536

Gene Name

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

Synonyms

4933406L18Rik, antitrypsin, alpha-1 antiproteinase,

MMRRC Submission

040304-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R2305 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104112724-104121896 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 104116528 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 187 (Q187K)

Ref Sequence

ENSEMBL: ENSMUSP00000140024 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000021496
AA Change: Q187K

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000021496
Gene: ENSMUSG00000041536
AA Change: Q187K

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

SMART Domains

Protein: ENSMUSP00000105591
Gene: ENSMUSG00000041536

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

Predicted Effect

probably benign
Transcript: ENSMUST00000185595
AA Change: Q187K

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000140024
Gene: ENSMUSG00000041536
AA Change: Q187K

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.8%

Validation Efficiency

100% (32/32)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1c	C	A	2: 58,281,699	D295Y	probably damaging	Het
Adamts7	A	G	9: 90,180,711	D406G	probably benign	Het
Ankhd1	T	C	18: 36,642,926	S1443P	possibly damaging	Het
Casp8ap2	A	T	4: 32,646,411	K1828I	probably damaging	Het
Ccdc105	T	C	10: 78,748,502	T360A	probably damaging	Het
Cep135	T	C	5: 76,595,389		probably benign	Het
Cyp3a57	A	G	5: 145,381,280	D357G	probably damaging	Het
Defb21	T	A	2: 152,574,871	L89Q	possibly damaging	Het
Dnah5	A	T	15: 28,387,767	E3124V	probably benign	Het
Efcab7	A	G	4: 99,831,481	T67A	possibly damaging	Het
Exo1	C	T	1: 175,888,761	P148L	probably damaging	Het
Hps4	A	G	5: 112,346,661	I37V	probably damaging	Het
Krt9	T	A	11: 100,193,116	M30L	unknown	Het
Med25	C	A	7: 44,885,890	R37L	possibly damaging	Het
Olfr1335	T	G	4: 118,808,861	Q318H	probably benign	Het
Olfr1436	T	C	19: 12,299,087	E15G	probably benign	Het
Phf3	G	A	1: 30,805,475	Q1468*	probably null	Het
Phkb	A	G	8: 86,043,802	K900R	possibly damaging	Het
Pirb	G	A	7: 3,712,991	H755Y	probably benign	Het
Polq	A	T	16: 37,062,337	N1342I	probably damaging	Het
Polr2b	T	A	5: 77,320,437		probably benign	Het
Pus1	C	A	5: 110,774,960	M232I	probably benign	Het
Slit1	G	A	19: 41,611,016	P1032L	probably benign	Het
Syne1	C	T	10: 5,047,573	E465K	probably damaging	Het
Tlk2	T	G	11: 105,241,591	I217R	possibly damaging	Het
Tlr4	A	G	4: 66,840,101	D377G	probably damaging	Het
Tmtc1	T	C	6: 148,244,697	D866G	probably damaging	Het
Tubd1	T	A	11: 86,555,191	I219N	probably benign	Het
Ugt3a2	C	A	15: 9,351,117	P71T	probably benign	Het
Vmn1r64	A	G	7: 5,884,536	S3P	probably benign	Het

Other mutations in Serpina3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01133:Serpina3a	APN	12	104121499	missense	probably benign	0.05
IGL02003:Serpina3a	APN	12	104116000	missense	probably benign	0.02
IGL02379:Serpina3a	APN	12	104118660	missense	probably benign	0.00
IGL02547:Serpina3a	APN	12	104116543	missense	probably damaging	0.98
IGL02593:Serpina3a	APN	12	104118432	missense	probably benign	0.01
IGL02730:Serpina3a	APN	12	104119663	missense	probably damaging	1.00
IGL02953:Serpina3a	APN	12	104116489	missense	probably benign	0.00
IGL03197:Serpina3a	APN	12	104116241	missense	probably damaging	1.00
R1184:Serpina3a	UTSW	12	104116528	nonsense	probably null
R1635:Serpina3a	UTSW	12	104116478	missense	probably damaging	1.00
R1688:Serpina3a	UTSW	12	104118643	missense	probably benign	0.06
R1804:Serpina3a	UTSW	12	104118416	splice site	probably benign
R1867:Serpina3a	UTSW	12	104118627	missense	probably benign	0.01
R1888:Serpina3a	UTSW	12	104116103	missense	probably benign	0.16
R1888:Serpina3a	UTSW	12	104116103	missense	probably benign	0.16
R2110:Serpina3a	UTSW	12	104116222	missense	probably damaging	0.97
R2111:Serpina3a	UTSW	12	104116222	missense	probably damaging	0.97
R2326:Serpina3a	UTSW	12	104116499	missense	probably benign	0.01
R2405:Serpina3a	UTSW	12	104121318	missense	possibly damaging	0.50
R4008:Serpina3a	UTSW	12	104118643	missense	probably benign	0.06
R4010:Serpina3a	UTSW	12	104118643	missense	probably benign	0.06
R4011:Serpina3a	UTSW	12	104118643	missense	probably benign	0.06
R4079:Serpina3a	UTSW	12	104119675	nonsense	probably null
R4091:Serpina3a	UTSW	12	104116366	missense	probably benign	0.01
R4092:Serpina3a	UTSW	12	104116366	missense	probably benign	0.01
R4210:Serpina3a	UTSW	12	104118643	missense	probably benign	0.06
R5064:Serpina3a	UTSW	12	104116189	missense	probably benign	0.01
R6242:Serpina3a	UTSW	12	104116001	missense	probably benign	0.10
R6337:Serpina3a	UTSW	12	104112878	missense	probably benign	0.36
R6395:Serpina3a	UTSW	12	104116451	missense	probably damaging	0.99
R6683:Serpina3a	UTSW	12	104119637	missense	probably benign	0.16
R6994:Serpina3a	UTSW	12	104112830	splice site	probably null
R7117:Serpina3a	UTSW	12	104116177	missense	possibly damaging	0.95
R8104:Serpina3a	UTSW	12	104112851	start gained	probably benign
R8131:Serpina3a	UTSW	12	104116208	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCAGGTTCAGATCAATGCTG -3'
(R):5'- TTCTGCTGGGCACATCTCAG -3'

Sequencing Primer
(F):5'- TTCAGATCAATGCTGGCAACG -3'
(R):5'- GGATACACATAGCTCTAAGGATTTG -3'

Posted On

2014-10-30