Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02159:Serpina1a'

282353

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Serpina1a

Ensembl Gene

ENSMUSG00000066366

Gene Name

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

Synonyms

PI1, Aat2, Spi1-1, Aat-2

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02159

Quality Score

Status

Chromosome

Chromosomal Location

103853589-103863562 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 103854706 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 338 (G338R)

Ref Sequence

ENSEMBL: ENSMUSP00000082132 (fasta)

Gene Model

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

AlphaFold

P07758

Predicted Effect

probably damaging
Transcript: ENSMUST00000072876
AA Change: G361R

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000072652
Gene: ENSMUSG00000066366
AA Change: G361R

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: G338R

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000082132
Gene: ENSMUSG00000066366
AA Change: G338R

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

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	C	10: 100,610,665	L257S	probably damaging	Het
2210010C04Rik	T	C	6: 41,032,957	T148A	probably benign	Het
Abca13	A	G	11: 9,314,545	S2976G	probably benign	Het
Afmid	T	C	11: 117,836,426	W267R	probably damaging	Het
Ahi1	A	G	10: 21,058,177	K969R	probably benign	Het
Aldh1l1	A	G	6: 90,594,656		probably benign	Het
Ank3	A	G	10: 69,808,892	H62R	probably damaging	Het
Arid2	T	C	15: 96,358,912		probably benign	Het
BC030867	G	A	11: 102,260,165		probably null	Het
Caps2	G	A	10: 112,204,023	V457M	probably benign	Het
Capza1	T	C	3: 104,864,371	D3G	possibly damaging	Het
Cav1	T	A	6: 17,307,972	V41E	possibly damaging	Het
Celf2	G	T	2: 6,604,177	C264*	probably null	Het
Clec4a2	C	T	6: 123,139,326	S150L	probably benign	Het
D7Ertd443e	A	T	7: 134,349,400	D181E	possibly damaging	Het
Epyc	A	G	10: 97,670,631	E100G	probably benign	Het
Hdac11	A	G	6: 91,173,102	I294M	probably damaging	Het
Hsdl1	A	G	8: 119,566,414	V73A	probably benign	Het
Kmt2c	A	T	5: 25,311,343	S2501T	probably benign	Het
Lrrc41	T	A	4: 116,088,486	F133I	probably benign	Het
Map3k19	C	A	1: 127,823,170	G815C	probably benign	Het
Muc13	C	A	16: 33,799,479	T199K	unknown	Het
Nif3l1	G	T	1: 58,447,946		probably null	Het
Nlrp12	A	T	7: 3,249,545		probably benign	Het
Nup205	T	C	6: 35,189,178	S244P	probably damaging	Het
Olfr1353	A	T	10: 78,969,901	N84I	probably damaging	Het
Parl	G	A	16: 20,280,088		probably benign	Het
Pax8	A	G	2: 24,440,788	I211T	possibly damaging	Het
Pglyrp4	A	G	3: 90,730,853	E158G	possibly damaging	Het
Plekhm1	A	G	11: 103,380,231	L478P	probably benign	Het
Serpina5	T	C	12: 104,105,298	L388P	possibly damaging	Het
Sorbs1	A	G	19: 40,327,596	V367A	probably damaging	Het
Srgap2	A	G	1: 131,319,666		probably benign	Het
Surf1	A	G	2: 26,915,651	L26P	probably damaging	Het
Taf4	A	G	2: 179,938,470	S486P	probably benign	Het
Tdrd6	A	T	17: 43,628,390	V589E	probably damaging	Het
Tuba3b	T	G	6: 145,619,666	S287A	probably benign	Het
Txnrd3	G	A	6: 89,669,324	R295H	probably damaging	Het
Ubr5	G	T	15: 37,991,379		probably benign	Het
Unc45b	C	T	11: 82,940,181		probably benign	Het
Usp32	A	G	11: 85,005,802		probably null	Het
Utp23	G	A	15: 51,882,365	R87K	probably benign	Het
Vps8	T	C	16: 21,466,484	I405T	possibly damaging	Het

Other mutations in Serpina1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2015-04-16