Mutagenetix > Incidental Mutation

Incidental Mutation 'R6337:Serpina3a'

513768

Institutional Source

Beutler Lab

Gene Symbol

Serpina3a

Ensembl Gene

ENSMUSG00000041536

Gene Name

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

Synonyms

4933406L18Rik, alpha-1 antiproteinase,, antitrypsin

MMRRC Submission

044491-MU

Accession Numbers

Essential gene?

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

Stock #

R6337 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104078983-104088155 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104079137 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 10 (F10L)

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

SMART Domains

Protein: ENSMUSP00000021496
Gene: ENSMUSG00000041536

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: F10L

PolyPhen 2 Score 0.362 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000105591
Gene: ENSMUSG00000041536
AA Change: F10L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175615

Predicted Effect

probably benign
Transcript: ENSMUST00000185595

SMART Domains

Protein: ENSMUSP00000140024
Gene: ENSMUSG00000041536

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.1%

Validation Efficiency

98% (61/62)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	T	G	3: 89,969,040 (GRCm39)	V221G	probably benign	Het
Abca12	G	A	1: 71,334,172 (GRCm39)	A1110V	probably damaging	Het
Acsl6	C	A	11: 54,231,368 (GRCm39)	P462T	probably damaging	Het
Acsm5	G	A	7: 119,133,458 (GRCm39)	A208T	probably benign	Het
Adcyap1	T	A	17: 93,509,709 (GRCm39)	Y53*	probably null	Het
Adgrg7	T	A	16: 56,572,788 (GRCm39)	I343F	probably damaging	Het
Agl	T	A	3: 116,580,426 (GRCm39)	K376M	possibly damaging	Het
Akna	A	G	4: 63,292,240 (GRCm39)	Y1142H	probably benign	Het
Anks1b	A	T	10: 90,757,158 (GRCm39)	T182S	probably benign	Het
Apol7e	T	A	15: 77,598,582 (GRCm39)	Y16N	possibly damaging	Het
Bptf	G	T	11: 106,949,605 (GRCm39)	T2238K	possibly damaging	Het
Ccdc87	A	G	19: 4,889,829 (GRCm39)	E107G	probably benign	Het
Ccng2	C	T	5: 93,418,780 (GRCm39)	A135V	probably benign	Het
Chd8	C	A	14: 52,441,566 (GRCm39)	R842L	probably damaging	Het
Cldn18	T	A	9: 99,591,995 (GRCm39)	T3S	probably benign	Het
Dhcr7	T	C	7: 143,390,468 (GRCm39)		probably null	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dusp26	T	C	8: 31,586,325 (GRCm39)	V182A	probably damaging	Het
Eif3e	T	C	15: 43,115,692 (GRCm39)	D358G	possibly damaging	Het
Epha3	A	T	16: 63,388,806 (GRCm39)	L814H	probably damaging	Het
Flnc	A	G	6: 29,454,318 (GRCm39)	N1877S	probably damaging	Het
Fpgs	A	T	2: 32,577,953 (GRCm39)	Y156*	probably null	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gm5591	T	C	7: 38,221,319 (GRCm39)	D250G	probably benign	Het
Gtf2e2	C	T	8: 34,266,043 (GRCm39)	R240*	probably null	Het
Hells	G	T	19: 38,943,254 (GRCm39)	Q519H	probably benign	Het
Hscb	A	G	5: 110,987,360 (GRCm39)		probably null	Het
Inpp5k	T	A	11: 75,537,640 (GRCm39)	I350N	probably damaging	Het
Irf9	G	A	14: 55,843,799 (GRCm39)	V221I	possibly damaging	Het
Itga8	A	T	2: 12,258,280 (GRCm39)	Y261*	probably null	Het
Itprid2	G	A	2: 79,485,463 (GRCm39)	D506N	probably damaging	Het
Lama1	C	T	17: 68,093,014 (GRCm39)	T1684M	probably benign	Het
Lrp2	A	T	2: 69,268,811 (GRCm39)	H4157Q	probably damaging	Het
Nceh1	G	T	3: 27,276,956 (GRCm39)	R93L	probably damaging	Het
Nell2	A	G	15: 95,283,025 (GRCm39)	F339S	probably damaging	Het
Or2t49	A	T	11: 58,392,838 (GRCm39)	C181*	probably null	Het
Phf11a	C	A	14: 59,521,817 (GRCm39)	C118F	probably damaging	Het
Purg	A	G	8: 33,876,451 (GRCm39)	K30E	possibly damaging	Het
Qprt	C	T	7: 126,708,101 (GRCm39)	R110H	probably damaging	Het
Robo2	T	C	16: 73,725,039 (GRCm39)	T1055A	probably benign	Het
Sidt1	A	T	16: 44,121,298 (GRCm39)		probably null	Het
Slc4a4	T	A	5: 89,194,231 (GRCm39)	M237K	probably benign	Het
Slitrk5	A	T	14: 111,917,684 (GRCm39)	D436V	probably damaging	Het
Snd1	T	C	6: 28,888,288 (GRCm39)	Y908H	probably damaging	Het
Sorcs1	A	G	19: 50,132,562 (GRCm39)	V1132A	probably benign	Het
Speer3	A	G	5: 13,843,369 (GRCm39)	E92G	probably damaging	Het
Strada	T	C	11: 106,064,143 (GRCm39)	E58G	possibly damaging	Het
Tbx10	A	T	19: 4,047,312 (GRCm39)	K139*	probably null	Het
Tcf4	T	C	18: 69,766,651 (GRCm39)	Y25H	probably damaging	Het
Tmem108	C	T	9: 103,376,960 (GRCm39)	R163H	possibly damaging	Het
Top2b	A	G	14: 16,399,026 (GRCm38)	T549A	possibly damaging	Het
Tpcn2	A	G	7: 144,833,080 (GRCm39)	I46T	probably damaging	Het
Uox	C	T	3: 146,330,332 (GRCm39)	R163*	probably null	Het
Vipr2	T	A	12: 116,086,363 (GRCm39)	Y129*	probably null	Het
Vps37a	A	T	8: 40,993,749 (GRCm39)	Q248L	probably benign	Het
Wrap53	T	C	11: 69,468,511 (GRCm39)	I179V	probably benign	Het
Zan	G	A	5: 137,450,750 (GRCm39)	A1609V	unknown	Het
Zbtb17	G	A	4: 141,190,694 (GRCm39)	G171S	probably benign	Het
Zbtb5	G	A	4: 44,993,459 (GRCm39)	R642W	probably damaging	Het
Zfyve27	A	G	19: 42,171,096 (GRCm39)		probably null	Het
Zup1	T	C	10: 33,825,252 (GRCm39)	N77D	probably benign	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
IGL02379:Serpina3a	APN	12	104,084,919 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

Posted On

2018-04-27