Mutagenetix > Incidental Mutation

Incidental Mutation 'R1610:Serpina1a'

176750

Institutional Source

Beutler Lab

Gene Symbol

Serpina1a

Ensembl Gene

ENSMUSG00000066366

Gene Name

serine (or cysteine) peptidase inhibitor, clade A, member 1A

Synonyms

Aat2, Aat-2, Spi1-1, PI1

MMRRC Submission

039647-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1610 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103819848-103829821 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 103820096 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 383 (D383E)

Ref Sequence

ENSEMBL: ENSMUSP00000072652 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072876] [ENSMUST00000085056] [ENSMUST00000124717]

AlphaFold

P07758

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072876
AA Change: D383E

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000072652
Gene: ENSMUSG00000066366
AA Change: D383E

Domain	Start	End	E-Value	Type
low complexity region	8	18	N/A	INTRINSIC
SERPIN	53	410	1.09e-203	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000085056
AA Change: D360E

PolyPhen 2 Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000082132
Gene: ENSMUSG00000066366
AA Change: D360E

Domain	Start	End	E-Value	Type
low complexity region	8	18	N/A	INTRINSIC
SERPIN	53	410	1.09e-203	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000124717

SMART Domains

Protein: ENSMUSP00000120398
Gene: ENSMUSG00000066366

Domain	Start	End	E-Value	Type
low complexity region	8	18	N/A	INTRINSIC
Pfam:Serpin	46	96	2.7e-16	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.1%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele die prior to E8.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd5	G	A	2: 22,980,563 (GRCm39)	C312Y	probably damaging	Het
Adgrl1	T	A	8: 84,659,002 (GRCm39)	M601K	probably benign	Het
Agbl4	G	A	4: 111,514,365 (GRCm39)	E459K	probably benign	Het
Anxa2	TCCC	TCC	9: 69,397,036 (GRCm39)		probably null	Het
Casz1	C	T	4: 149,013,544 (GRCm39)	A36V	possibly damaging	Het
Cfap20dc	G	T	14: 8,511,110 (GRCm38)	H435N	probably benign	Het
Chpf	A	G	1: 75,453,292 (GRCm39)	V327A	probably damaging	Het
Cldn23	A	G	8: 36,293,084 (GRCm39)	Y135H	probably damaging	Het
Cobll1	C	T	2: 64,963,986 (GRCm39)	D211N	probably damaging	Het
Cramp1	A	G	17: 25,202,925 (GRCm39)	V368A	probably benign	Het
Dnah6	T	C	6: 73,121,946 (GRCm39)	T1374A	probably benign	Het
Dpyd	A	G	3: 118,858,655 (GRCm39)	H623R	probably benign	Het
Dyrk2	T	C	10: 118,695,830 (GRCm39)	N476S	probably benign	Het
Endog	A	T	2: 30,063,899 (GRCm39)	I267F	probably damaging	Het
Ephb6	A	T	6: 41,591,307 (GRCm39)	K155*	probably null	Het
Far2	T	C	6: 148,058,956 (GRCm39)	V214A	possibly damaging	Het
Fat2	A	G	11: 55,169,750 (GRCm39)	V3003A	probably damaging	Het
Frg2f1	T	A	4: 119,388,485 (GRCm39)	T5S	possibly damaging	Het
Gm14496	A	T	2: 181,637,972 (GRCm39)	T349S	probably benign	Het
Golgb1	A	G	16: 36,746,463 (GRCm39)	T2951A	probably benign	Het
Hc	G	T	2: 34,896,173 (GRCm39)	D1203E	probably benign	Het
Isg20	C	A	7: 78,564,257 (GRCm39)	Q55K	possibly damaging	Het
Jph4	G	T	14: 55,351,560 (GRCm39)	A152E	probably damaging	Het
Kcnq3	T	C	15: 65,897,109 (GRCm39)	T264A	probably damaging	Het
Kcnq5	T	G	1: 21,527,685 (GRCm39)	T463P	probably damaging	Het
Klra8	A	G	6: 130,095,981 (GRCm39)	S204P	probably damaging	Het
Ldlrad1	A	G	4: 107,072,072 (GRCm39)	D98G	probably damaging	Het
Lhfpl4	T	C	6: 113,171,097 (GRCm39)	T30A	possibly damaging	Het
Lig1	T	A	7: 13,019,266 (GRCm39)	L80Q	probably damaging	Het
Lmbrd2	A	G	15: 9,186,699 (GRCm39)	Y558C	probably benign	Het
Lrrn3	G	T	12: 41,502,992 (GRCm39)	L442I	possibly damaging	Het
Mc2r	A	G	18: 68,540,519 (GRCm39)	F258S	probably damaging	Het
Mmp16	A	G	4: 18,011,582 (GRCm39)	T137A	probably benign	Het
Nfatc2ip	A	T	7: 125,986,579 (GRCm39)	S359T	probably damaging	Het
Nup214	C	T	2: 31,924,478 (GRCm39)	S1669F	probably damaging	Het
Nup50l	G	T	6: 96,142,270 (GRCm39)	P258Q	probably damaging	Het
Or10a48	T	A	7: 108,425,131 (GRCm39)	H25L	probably benign	Het
Or4c15b	T	C	2: 89,113,165 (GRCm39)	H104R	probably damaging	Het
Or4s2b	A	T	2: 88,508,918 (GRCm39)	K233*	probably null	Het
Or8b1b	C	T	9: 38,375,927 (GRCm39)	L197F	probably damaging	Het
Pacc1	A	G	1: 191,077,262 (GRCm39)	D195G	probably benign	Het
Plagl1	C	T	10: 13,004,706 (GRCm39)		probably benign	Het
Plxnb2	A	T	15: 89,042,696 (GRCm39)	S1531T	probably damaging	Het
Ptpn22	G	A	3: 103,809,512 (GRCm39)		probably null	Het
Rtn1	T	A	12: 72,266,053 (GRCm39)	Q174L	possibly damaging	Het
Selenoo	A	G	15: 88,984,119 (GRCm39)	E645G	probably benign	Het
Slc6a18	T	A	13: 73,816,344 (GRCm39)	Y345F	probably benign	Het
Smbd1	A	G	16: 32,627,135 (GRCm39)	V51A	possibly damaging	Het
Tchh	C	T	3: 93,352,146 (GRCm39)	R529W	unknown	Het
Tonsl	A	T	15: 76,522,757 (GRCm39)	Y165N	probably damaging	Het
Trdmt1	G	A	2: 13,520,870 (GRCm39)	T344I	probably damaging	Het
Ubash3b	C	A	9: 40,954,796 (GRCm39)	R116L	probably damaging	Het
Vmn2r94	A	G	17: 18,463,995 (GRCm39)	V765A	probably damaging	Het
Zfp474	C	T	18: 52,771,437 (GRCm39)	T30I	probably benign	Het

Other mutations in Serpina1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02159:Serpina1a	APN	12	103,820,965 (GRCm39)	missense	probably damaging	0.99
IGL02511:Serpina1a	APN	12	103,822,226 (GRCm39)	nonsense	probably null
R0071:Serpina1a	UTSW	12	103,822,002 (GRCm39)	missense	probably benign	0.03
R1959:Serpina1a	UTSW	12	103,820,059 (GRCm39)	nonsense	probably null
R3107:Serpina1a	UTSW	12	103,820,100 (GRCm39)	missense	probably damaging	1.00
R3108:Serpina1a	UTSW	12	103,820,100 (GRCm39)	missense	probably damaging	1.00
R4303:Serpina1a	UTSW	12	103,820,934 (GRCm39)	missense	probably damaging	1.00
R4814:Serpina1a	UTSW	12	103,821,022 (GRCm39)	missense	probably benign	0.01
R6011:Serpina1a	UTSW	12	103,823,728 (GRCm39)	missense	probably damaging	0.97
R6547:Serpina1a	UTSW	12	103,822,180 (GRCm39)	missense	probably damaging	1.00
R6548:Serpina1a	UTSW	12	103,820,017 (GRCm39)	missense	probably benign	0.00
R6724:Serpina1a	UTSW	12	103,826,679 (GRCm39)	intron	probably benign
R6915:Serpina1a	UTSW	12	103,820,110 (GRCm39)	missense	possibly damaging	0.68
R6991:Serpina1a	UTSW	12	103,820,092 (GRCm39)	missense	probably benign	0.04
R7570:Serpina1a	UTSW	12	103,820,096 (GRCm39)	missense	possibly damaging	0.69
R7629:Serpina1a	UTSW	12	103,820,067 (GRCm39)	missense	probably damaging	1.00
R8353:Serpina1a	UTSW	12	103,822,038 (GRCm39)	missense	probably benign	0.01
R8556:Serpina1a	UTSW	12	103,822,229 (GRCm39)	missense	probably damaging	1.00
R8909:Serpina1a	UTSW	12	103,820,938 (GRCm39)	missense	probably damaging	0.97
R9021:Serpina1a	UTSW	12	103,824,293 (GRCm39)	missense	probably benign	0.01
R9058:Serpina1a	UTSW	12	103,820,001 (GRCm39)	missense	possibly damaging	0.94
R9786:Serpina1a	UTSW	12	103,822,140 (GRCm39)	missense	possibly damaging	0.93
Z1088:Serpina1a	UTSW	12	103,820,926 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGCCTGTGTTTAATGGAAGGAACCC -3'
(R):5'- CTCAAAACCGTGTCACAATGTGCTC -3'

Sequencing Primer
(F):5'- GTTTAATGGAAGGAACCCAATTCAG -3'
(R):5'- GGACATGAAGTTCCTCTCTCTGAAG -3'

Posted On

2014-04-24