Mutagenetix > Incidental Mutation

Incidental Mutation 'R6011:Serpina1a'

479765

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

043253-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6011 (G1)

Quality Score

139.008

Status

Not validated

Chromosome

Chromosomal Location

103819848-103829821 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103823728 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 195 (D195V)

Ref Sequence

ENSEMBL: ENSMUSP00000082132 (fasta)

Gene Model

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

AlphaFold

P07758

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072876
AA Change: D218V

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000072652
Gene: ENSMUSG00000066366
AA Change: D218V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000085056
AA Change: D195V

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000082132
Gene: ENSMUSG00000066366
AA Change: D195V

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: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.0%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,136,570 (GRCm39)	N533K	probably benign	Het
Adamts15	G	T	9: 30,814,082 (GRCm39)	H694Q	probably damaging	Het
Adcy5	T	C	16: 34,977,598 (GRCm39)	L377P	probably benign	Het
Add2	T	C	6: 86,075,607 (GRCm39)	L252P	probably damaging	Het
Amer1	ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	X: 94,470,889 (GRCm39)		probably benign	Het
Ankrd13d	A	G	19: 4,331,962 (GRCm39)	L39P	probably damaging	Het
Asic1	G	T	15: 99,596,960 (GRCm39)	A541S	probably benign	Het
Bhmt1b	A	G	18: 87,774,663 (GRCm39)	E62G	probably damaging	Het
Bpifb2	A	G	2: 153,731,496 (GRCm39)		probably null	Het
Catsper3	A	G	13: 55,934,305 (GRCm39)	I75M	probably damaging	Het
Ccser2	T	C	14: 36,601,532 (GRCm39)	E837G	probably benign	Het
Clasp2	C	T	9: 113,705,315 (GRCm39)	P557L	probably benign	Het
Clstn2	C	T	9: 97,338,579 (GRCm39)	R860Q	probably benign	Het
Cplx3	A	T	9: 57,523,038 (GRCm39)	D140E	probably damaging	Het
Cyp2c66	A	G	19: 39,130,380 (GRCm39)	K72E	probably benign	Het
Cyp3a44	A	G	5: 145,738,084 (GRCm39)		probably null	Het
Disp2	G	A	2: 118,621,301 (GRCm39)	V678I	possibly damaging	Het
Dock4	T	C	12: 40,867,756 (GRCm39)		probably null	Het
Eml3	T	C	19: 8,916,471 (GRCm39)	Y688H	probably damaging	Het
Fam187a	A	G	11: 102,776,267 (GRCm39)	K24E	probably damaging	Het
Fhit	T	C	14: 9,870,068 (GRCm38)	K134E	probably benign	Het
Foxl3	A	G	5: 138,807,374 (GRCm39)	*217W	probably null	Het
Gm16485	A	T	9: 8,972,454 (GRCm39)		probably benign	Het
Gm7247	C	T	14: 51,601,805 (GRCm39)	S26F	probably benign	Het
Hmgxb3	G	A	18: 61,296,096 (GRCm39)	T304I	probably damaging	Het
Lgsn	A	G	1: 31,242,847 (GRCm39)	S310G	probably damaging	Het
Muc21	T	A	17: 35,933,074 (GRCm39)		probably benign	Het
Niban2	T	C	2: 32,812,877 (GRCm39)	Y482H	probably damaging	Het
Or12e13	A	G	2: 87,664,259 (GRCm39)	N292S	probably damaging	Het
Or4k42	C	A	2: 111,320,192 (GRCm39)	A104S	probably benign	Het
Or6c8b	A	T	10: 128,882,508 (GRCm39)	H141Q	probably benign	Het
Or7g25	T	A	9: 19,159,807 (GRCm39)	E296V	probably damaging	Het
Or9i1b	G	A	19: 13,896,521 (GRCm39)	V46I	probably benign	Het
Pelo	A	G	13: 115,226,302 (GRCm39)	S52P	probably benign	Het
Prune2	A	G	19: 17,096,080 (GRCm39)	N528S	probably benign	Het
Rfc3	T	A	5: 151,567,184 (GRCm39)	I291L	probably damaging	Het
Rpl35	A	T	2: 38,894,813 (GRCm39)		probably null	Het
Sectm1b	C	T	11: 120,946,704 (GRCm39)	V64I	possibly damaging	Het
Serpina12	A	G	12: 104,001,993 (GRCm39)	M241T	probably damaging	Het
Sesn2	C	T	4: 132,226,708 (GRCm39)	V129M	probably damaging	Het
Slc4a1	A	C	11: 102,243,357 (GRCm39)	V758G	probably damaging	Het
Tmx4	A	T	2: 134,481,756 (GRCm39)	Y56N	probably damaging	Het
Traj50	T	C	14: 54,405,091 (GRCm39)		probably benign	Het
Trio	T	G	15: 27,735,631 (GRCm39)	K2820Q	probably damaging	Het
Ttc28	G	A	5: 111,434,309 (GRCm39)	G2417S	probably benign	Het
Usp32	T	C	11: 84,922,923 (GRCm39)	D665G	possibly damaging	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
R1610:Serpina1a	UTSW	12	103,820,096 (GRCm39)	missense	possibly damaging	0.69
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
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'- TGGACTTGATGTTTGAAGCCAATTC -3'
(R):5'- ACAATGACCTGAAGCTGGTG -3'

Sequencing Primer
(F):5'- GATGTTTGAAGCCAATTCCTAAGC -3'
(R):5'- ACCTGAAGCTGGTGGAGAAGTTTC -3'

Posted On

2017-06-26