Mutagenetix > Incidental Mutation

Incidental Mutation 'R0071:Serpina1a'

43875

Institutional Source

Beutler Lab

Gene Symbol

Serpina1a

Ensembl Gene

ENSMUSG00000066366

Gene Name

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

Synonyms

PI1, Aat2, Spi1-1, Aat-2

MMRRC Submission

038362-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0071 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103853589-103863562 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103855743 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 310 (K310R)

Ref Sequence

ENSEMBL: ENSMUSP00000072652 (fasta)

Gene Model

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

AlphaFold

P07758

Predicted Effect

probably benign
Transcript: ENSMUST00000072876
AA Change: K310R

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000072652
Gene: ENSMUSG00000066366
AA Change: K310R

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: ENSMUST00000085056
AA Change: K287R

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000082132
Gene: ENSMUSG00000066366
AA Change: K287R

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 92.2%

Validation Efficiency

99% (78/79)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900011O08Rik	A	G	16: 14,088,954	D11G	probably damaging	Het
4930474N05Rik	A	G	14: 36,090,789		probably benign	Het
Acot12	T	C	13: 91,781,174		probably benign	Het
Acrbp	T	C	6: 125,050,952		probably benign	Het
AI481877	A	G	4: 59,059,643	Y1006H	possibly damaging	Het
Amotl1	G	A	9: 14,548,773	A890V	probably benign	Het
Aox3	T	A	1: 58,171,891	C931*	probably null	Het
Apob	T	A	12: 8,002,111	V1184E	probably damaging	Het
Arhgap44	A	T	11: 65,011,895	L582Q	possibly damaging	Het
Bbx	C	T	16: 50,280,392	E47K	probably benign	Het
Bccip	A	G	7: 133,714,231	D72G	probably damaging	Het
Bckdha	A	T	7: 25,630,443		probably null	Het
Cald1	C	T	6: 34,758,134		probably benign	Het
Cdk11b	T	C	4: 155,649,423		probably benign	Het
Cebpe	G	T	14: 54,710,604	R261S	probably damaging	Het
Cep95	C	T	11: 106,790,728		probably benign	Het
Chil1	T	C	1: 134,185,279	Y150H	probably benign	Het
Chrnd	T	C	1: 87,192,837		probably benign	Het
Clec4g	T	A	8: 3,717,489		probably benign	Het
Cog2	T	C	8: 124,548,668		probably benign	Het
Coro7	A	T	16: 4,670,527	L93Q	probably damaging	Het
Csmd3	T	C	15: 47,596,821	T3525A	probably benign	Het
Ctsc	G	A	7: 88,308,149		probably benign	Het
Dnajc16	T	C	4: 141,768,007	T467A	probably benign	Het
Dnmt1	G	A	9: 20,908,620	T1409I	probably damaging	Het
Fam227b	T	A	2: 126,124,074	N144Y	probably benign	Het
Fam83h	A	G	15: 76,002,528	S987P	probably benign	Het
Fhod1	A	T	8: 105,337,225		probably null	Het
Folr1	A	G	7: 101,863,923		probably null	Het
Glis3	C	T	19: 28,263,855		probably benign	Het
Gm10069	T	C	6: 128,472,725		noncoding transcript	Het
Golgb1	G	A	16: 36,915,503	R1704Q	probably benign	Het
Gpr158	C	A	2: 21,810,668	T624K	probably benign	Het
Helz2	T	C	2: 181,236,407	Y866C	probably damaging	Het
Itpkb	T	A	1: 180,332,765	V152E	probably damaging	Het
Kcnma1	C	T	14: 23,526,767	R236H	probably damaging	Het
Klhl32	A	G	4: 24,743,907	V88A	probably damaging	Het
Lct	C	T	1: 128,292,018	W1631*	probably null	Het
Lipa	T	A	19: 34,495,082	K313M	probably damaging	Het
Ly75	T	C	2: 60,321,819	K1130R	probably benign	Het
Mamdc2	C	A	19: 23,303,630	E685*	probably null	Het
Mdm1	A	G	10: 118,146,796	E112G	probably damaging	Het
Metrnl	A	T	11: 121,716,000	M212L	probably benign	Het
Mettl2	A	G	11: 105,131,642		probably benign	Het
Mxd3	A	T	13: 55,329,636	L11Q	probably damaging	Het
Myo7a	A	T	7: 98,056,830	Y1836N	probably damaging	Het
Nsun7	A	G	5: 66,264,045	Y118C	probably benign	Het
Obscn	G	A	11: 59,064,201	T3962M	possibly damaging	Het
Olfr195	C	A	16: 59,149,215	R122S	probably benign	Het
Olfr53	A	T	7: 140,652,257	I93F	probably benign	Het
Olfr716	A	G	7: 107,147,712	Y132C	probably damaging	Het
Osbpl11	T	C	16: 33,214,338		probably benign	Het
Pcdhb22	A	T	18: 37,520,078	D276V	probably damaging	Het
Pik3cb	A	T	9: 99,044,865	D886E	probably benign	Het
Pkhd1	T	A	1: 20,201,344	Y2995F	probably benign	Het
Raver2	C	T	4: 101,120,445		probably benign	Het
Rhbdf1	A	G	11: 32,210,498	L684P	probably damaging	Het
Rufy2	C	A	10: 62,989,167	L75M	possibly damaging	Het
Sec22c	A	G	9: 121,692,913	F44L	probably damaging	Het
Sephs1	A	G	2: 4,899,560	T250A	probably benign	Het
Sobp	A	G	10: 43,157,997	L111P	probably damaging	Het
Sparcl1	G	T	5: 104,085,841	Y547*	probably null	Het
Spata31d1b	G	A	13: 59,715,349	A104T	probably benign	Het
Spert	A	G	14: 75,584,181	S44P	probably benign	Het
Spsb3	A	G	17: 24,887,904	D184G	probably damaging	Het
Sptan1	A	T	2: 30,003,342	K1148*	probably null	Het
Tdrd12	A	G	7: 35,529,246	V17A	possibly damaging	Het
Tlr9	A	G	9: 106,223,578	T23A	probably benign	Het
Tra2b	A	T	16: 22,254,401		probably benign	Het
Tspan15	A	G	10: 62,203,070		probably benign	Het
Ttc41	A	G	10: 86,736,846	N694S	probably benign	Het
Ttn	T	G	2: 76,767,469	D19700A	probably damaging	Het
Ube3b	G	A	5: 114,419,497	G1014D	probably damaging	Het
Unc5d	A	G	8: 28,719,826	V422A	possibly damaging	Het
Vmn2r80	C	T	10: 79,171,732	T514I	possibly damaging	Het
Zfp595	T	C	13: 67,316,853	K452E	possibly damaging	Het
Zfp607a	A	G	7: 27,878,269	K255E	probably damaging	Het
Zxdc	T	G	6: 90,370,416	V253G	probably damaging	Het

Other mutations in Serpina1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02159:Serpina1a	APN	12	103854706	missense	probably damaging	0.99
IGL02511:Serpina1a	APN	12	103855967	nonsense	probably null
R1610:Serpina1a	UTSW	12	103853837	missense	possibly damaging	0.69
R1959:Serpina1a	UTSW	12	103853800	nonsense	probably null
R3107:Serpina1a	UTSW	12	103853841	missense	probably damaging	1.00
R3108:Serpina1a	UTSW	12	103853841	missense	probably damaging	1.00
R4303:Serpina1a	UTSW	12	103854675	missense	probably damaging	1.00
R4814:Serpina1a	UTSW	12	103854763	missense	probably benign	0.01
R6011:Serpina1a	UTSW	12	103857469	missense	probably damaging	0.97
R6547:Serpina1a	UTSW	12	103855921	missense	probably damaging	1.00
R6548:Serpina1a	UTSW	12	103853758	missense	probably benign	0.00
R6724:Serpina1a	UTSW	12	103860420	intron	probably benign
R6915:Serpina1a	UTSW	12	103853851	missense	possibly damaging	0.68
R6991:Serpina1a	UTSW	12	103853833	missense	probably benign	0.04
R7570:Serpina1a	UTSW	12	103853837	missense	possibly damaging	0.69
R7629:Serpina1a	UTSW	12	103853808	missense	probably damaging	1.00
R8353:Serpina1a	UTSW	12	103855779	missense	probably benign	0.01
R8556:Serpina1a	UTSW	12	103855970	missense	probably damaging	1.00
R8909:Serpina1a	UTSW	12	103854679	missense	probably damaging	0.97
R9021:Serpina1a	UTSW	12	103858034	missense	probably benign	0.01
R9058:Serpina1a	UTSW	12	103853742	missense	possibly damaging	0.94
R9786:Serpina1a	UTSW	12	103855881	missense	possibly damaging	0.93
Z1088:Serpina1a	UTSW	12	103854667	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGAGCCTTGCCCTGCAAACTTG -3'
(R):5'- AAGCCATTCGATCCTGAGAACACTG -3'

Sequencing Primer
(F):5'- TGCAAACTTGCCCAGAGAG -3'
(R):5'- CTGAGGAAGCTGAGTTCCAC -3'

Posted On

2013-05-29