Mutagenetix > Incidental Mutation

Incidental Mutation 'R6915:Serpina1a'

539299

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

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6915 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103853589-103863562 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 103853851 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 379 (V379L)

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: V379L

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000072652
Gene: ENSMUSG00000066366
AA Change: V379L

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: V356L

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000082132
Gene: ENSMUSG00000066366
AA Change: V356L

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: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.3%

Validation Efficiency

97% (63/65)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck1	C	A	12: 88,455,620	L334I	probably damaging	Het
Akap9	T	A	5: 3,960,551	M436K	probably benign	Het
Ankmy1	A	C	1: 92,888,451	F314V	probably null	Het
Arid5b	G	A	10: 68,186,212	Q183*	probably null	Het
Atp8b4	A	T	2: 126,358,914	L778*	probably null	Het
BC024139	G	T	15: 76,120,021	N739K	probably benign	Het
Carns1	T	G	19: 4,169,913	H441P	probably benign	Het
Cfap70	T	A	14: 20,409,085	I693F	probably benign	Het
Cldn3	A	G	5: 134,986,572	Q43R	probably damaging	Het
Col7a1	C	T	9: 108,967,618	P1608L	probably benign	Het
Cr2	T	A	1: 195,171,146	Y28F	probably benign	Het
Cyp2c38	T	A	19: 39,436,068	I269F	probably damaging	Het
Dapk1	A	T	13: 60,696,442	I92F	probably damaging	Het
Dennd4a	T	A	9: 64,852,489	L292*	probably null	Het
Dhx38	T	C	8: 109,559,599	E353G	probably benign	Het
Dnm3	T	C	1: 162,318,397		probably null	Het
Dzip3	T	C	16: 48,942,125	I794V	possibly damaging	Het
Eif2b5	T	A	16: 20,502,750	V351D	possibly damaging	Het
Epg5	T	A	18: 77,979,165	V1041E	probably benign	Het
Exoc4	A	G	6: 33,921,453	K869R	possibly damaging	Het
Fat3	C	A	9: 16,377,748	V160F	probably benign	Het
Gak	A	T	5: 108,602,950	Y365N	probably benign	Het
Ghrhr	T	A	6: 55,383,119		probably null	Het
Gm21738	A	G	14: 19,415,933	M202T	probably benign	Het
Gm6583	A	T	5: 112,354,657	W394R	probably damaging	Het
Havcr2	C	T	11: 46,475,911	S177L	probably benign	Het
Hkdc1	G	C	10: 62,401,932	R353G	possibly damaging	Het
Ifi208	G	A	1: 173,682,878	G200S	probably damaging	Het
Klhl20	T	C	1: 161,093,696	D63G	possibly damaging	Het
Lair1	A	T	7: 4,055,953	V12E	possibly damaging	Het
Lipo3	T	C	19: 33,584,893	N26D	probably damaging	Het
Lyst	T	A	13: 13,726,044	D3168E	probably benign	Het
Map6	G	A	7: 99,268,247	A76T	probably damaging	Het
Mcoln3	A	T	3: 146,137,256		probably null	Het
Muc4	T	C	16: 32,766,938	F2718L	probably benign	Het
Nek11	C	G	9: 105,393,057		probably benign	Het
Olfr1428	A	G	19: 12,109,126	V140A	probably benign	Het
Olfr372	C	A	8: 72,057,730	L17I	probably benign	Het
Olfr964-ps1	T	C	9: 39,686,536	E136G	unknown	Het
Pcdh15	A	T	10: 74,643,809	E846V	probably benign	Het
Pcdhga8	C	T	18: 37,725,945	T18M	probably benign	Het
Per3	T	C	4: 151,043,649	M61V	possibly damaging	Het
Pfas	C	T	11: 68,992,181	R759Q	probably benign	Het
Pitpnm1	A	G	19: 4,106,947	Y490C	possibly damaging	Het
Plcb4	A	T	2: 135,947,115	I272F	possibly damaging	Het
Ppp1r3b	A	G	8: 35,384,667	Y220C	probably damaging	Het
Prkce	G	C	17: 86,493,407	G417A	probably damaging	Het
Ptar1	A	G	19: 23,703,137	N106D	probably damaging	Het
Rbm15	C	A	3: 107,332,311	R257L	probably benign	Het
Rptor	T	G	11: 119,756,345	M254R	probably damaging	Het
Runx1t1	T	A	4: 13,865,257	W350R	probably damaging	Het
Ryr2	T	G	13: 11,745,601	Y1532S	probably damaging	Het
Sox8	C	T	17: 25,567,914	V272I	probably damaging	Het
Spert	T	A	14: 75,592,658	T32S	probably benign	Het
Stard9	C	T	2: 120,702,630	H3123Y	probably benign	Het
Taar9	C	T	10: 24,109,012	E175K	possibly damaging	Het
Tinag	T	A	9: 77,001,615	Y348F	probably damaging	Het
Tktl2	T	C	8: 66,513,035	I415T	probably damaging	Het
Tm7sf2	G	T	19: 6,068,312	R718S	probably damaging	Het
Tmem229a	G	T	6: 24,954,658	Q366K	probably benign	Het
Txndc2	T	C	17: 65,638,291	D297G	probably benign	Het
Ulk4	A	G	9: 121,258,820	F269L	probably benign	Het
Vps39	A	T	2: 120,321,031	Y738*	probably null	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
R0071:Serpina1a	UTSW	12	103855743	missense	probably benign	0.03
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
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'- GCCTGTGTTTAATGGAAGGAACC -3'
(R):5'- TTAAGTGGTCACCGTGAAAGGG -3'

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

Posted On

2018-11-06