Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02511:Serpina1a'

296539

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

Aat2, Aat-2, Spi1-1, PI1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02511

Quality Score

Status

Chromosome

Chromosomal Location

103819848-103829821 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 103822226 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 212 (W212*)

Ref Sequence

ENSEMBL: ENSMUSP00000082132 (fasta)

Gene Model

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

AlphaFold

P07758

Predicted Effect

probably null
Transcript: ENSMUST00000072876
AA Change: W235*

SMART Domains

Protein: ENSMUSP00000072652
Gene: ENSMUSG00000066366
AA Change: W235*

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

Predicted Effect

probably null
Transcript: ENSMUST00000085056
AA Change: W212*

SMART Domains

Protein: ENSMUSP00000082132
Gene: ENSMUSG00000066366
AA Change: W212*

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accsl	A	T	2: 93,692,111 (GRCm39)		probably benign	Het
Adam3	T	A	8: 25,185,192 (GRCm39)	D502V	probably damaging	Het
Adss2	T	C	1: 177,598,700 (GRCm39)		probably benign	Het
Ankrd36	T	A	11: 5,610,845 (GRCm39)		probably null	Het
Atf6b	T	C	17: 34,873,615 (GRCm39)	S692P	probably benign	Het
Cap2	T	C	13: 46,684,498 (GRCm39)	M1T	probably null	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cntn1	A	T	15: 92,114,266 (GRCm39)		probably benign	Het
Copg2	A	T	6: 30,835,757 (GRCm39)	F218Y	probably benign	Het
Dll4	G	A	2: 119,156,947 (GRCm39)	G73E	probably damaging	Het
Dzip3	T	C	16: 48,757,343 (GRCm39)	M897V	possibly damaging	Het
Ehbp1	T	C	11: 22,039,653 (GRCm39)	R816G	probably damaging	Het
Enoph1	T	C	5: 100,208,894 (GRCm39)	L83P	probably benign	Het
Enpep	A	G	3: 129,115,059 (GRCm39)	S238P	probably damaging	Het
Fermt1	A	C	2: 132,775,086 (GRCm39)		probably benign	Het
Gm6619	T	A	6: 131,467,330 (GRCm39)	I65K	possibly damaging	Het
Krtap31-2	T	A	11: 99,827,518 (GRCm39)	C117S	possibly damaging	Het
Ksr1	T	C	11: 78,936,046 (GRCm39)	D106G	possibly damaging	Het
Lgr4	A	T	2: 109,841,617 (GRCm39)	Y534F	probably benign	Het
Mamdc2	T	C	19: 23,356,095 (GRCm39)	T118A	probably benign	Het
Myo10	T	A	15: 25,723,975 (GRCm39)	I170N	probably damaging	Het
Myom2	T	C	8: 15,115,743 (GRCm39)	S53P	probably benign	Het
Npl	T	A	1: 153,391,227 (GRCm39)	D176V	probably damaging	Het
Nrm	T	C	17: 36,172,316 (GRCm39)	S14P	probably damaging	Het
Or5al7	A	G	2: 85,992,363 (GRCm39)	I310T	probably benign	Het
Or5p70	T	A	7: 107,995,265 (GRCm39)	F313I	probably benign	Het
Or5v1b	A	G	17: 37,840,870 (GRCm39)	M1V	probably null	Het
Papola	T	A	12: 105,775,604 (GRCm39)	C204S	probably damaging	Het
Pard3	A	T	8: 127,888,070 (GRCm39)		probably benign	Het
Pdzd4	T	A	X: 72,838,206 (GRCm39)	M701L	probably damaging	Het
Pkhd1	A	T	1: 20,143,731 (GRCm39)	V3865E	possibly damaging	Het
Plxna3	C	A	X: 73,378,991 (GRCm39)	Q712K	probably damaging	Het
Pon1	A	G	6: 5,193,724 (GRCm39)	L9P	probably damaging	Het
Pygm	A	T	19: 6,435,718 (GRCm39)	I83F	probably benign	Het
Scyl2	A	G	10: 89,476,681 (GRCm39)	S815P	probably benign	Het
Slc38a9	C	A	13: 112,834,541 (GRCm39)	D239E	possibly damaging	Het
Smad6	A	G	9: 63,860,859 (GRCm39)	F479L	probably damaging	Het
Smarcc2	T	C	10: 128,297,251 (GRCm39)	S48P	probably damaging	Het
Ttn	T	A	2: 76,768,034 (GRCm39)	M3022L	unknown	Het
Tulp1	C	A	17: 28,575,142 (GRCm39)	R441L	probably benign	Het
Ugt1a10	T	C	1: 87,983,585 (GRCm39)	F128L	probably damaging	Het
Ulk4	A	G	9: 121,017,420 (GRCm39)	V686A	probably damaging	Het
Ush2a	T	C	1: 188,475,884 (GRCm39)		probably null	Het
Ushbp1	T	C	8: 71,843,581 (GRCm39)	M286V	probably null	Het
Usp51	T	G	X: 151,791,726 (GRCm39)	I440R	probably damaging	Het
Wee1	G	T	7: 109,738,483 (GRCm39)	R532L	possibly damaging	Het
Zfhx4	A	G	3: 5,464,243 (GRCm39)	E1467G	probably damaging	Het
Zfp13	C	T	17: 23,795,072 (GRCm39)	A493T	probably benign	Het
Zfp551	A	G	7: 12,150,602 (GRCm39)	V269A	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
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
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

Posted On

2015-04-16