Mutagenetix > Incidental Mutation

Incidental Mutation 'R3108:Serpina1a'

263675

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

040582-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3108 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103853589-103863562 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103853841 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 382 (I382N)

Ref Sequence

ENSEMBL: ENSMUSP00000072652 (fasta)

Gene Model

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

AlphaFold

P07758

Predicted Effect

probably damaging
Transcript: ENSMUST00000072876
AA Change: I382N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000072652
Gene: ENSMUSG00000066366
AA Change: I382N

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: I359N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000082132
Gene: ENSMUSG00000066366
AA Change: I359N

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

0.8583

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (32/32)

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd2	C	T	7: 79,323,585	S104L	probably benign	Het
Adcy1	A	G	11: 7,169,453	Y1032C	probably damaging	Het
Ap4e1	T	C	2: 127,056,306		probably null	Het
Ccnb1	C	T	13: 100,781,624		probably null	Het
Cfap54	T	C	10: 92,994,683	N1197S	probably benign	Het
Cnot1	A	G	8: 95,735,749	V1691A	probably damaging	Het
Dclk2	G	A	3: 86,920,035	P46S	probably damaging	Het
Dennd4a	A	G	9: 64,912,387	K1760R	probably benign	Het
Drd4	T	A	7: 141,292,282	V82E	possibly damaging	Het
Dtx2	G	A	5: 136,021,816	V323M	probably benign	Het
Espl1	A	G	15: 102,312,989	I944V	probably damaging	Het
Fat1	G	A	8: 45,045,173		probably null	Het
Igkv11-125	T	C	6: 67,913,871	F58L	possibly damaging	Het
Mrgprb1	A	G	7: 48,447,328	S279P	possibly damaging	Het
Muc5b	C	T	7: 141,858,759	T1814M	unknown	Het
Nkpd1	G	A	7: 19,522,978	M227I	probably damaging	Het
Ntrk3	C	T	7: 78,460,515	V324M	probably benign	Het
Nup155	C	A	15: 8,117,306	T210K	probably null	Het
Olfr466	T	C	13: 65,153,061	V279A	possibly damaging	Het
Olfr591	T	A	7: 103,173,086	M184L	probably damaging	Het
Pak4	A	T	7: 28,564,344	Y322*	probably null	Het
Raph1	G	A	1: 60,493,386	A696V	probably benign	Het
Satb1	A	T	17: 51,782,782	Y346N	possibly damaging	Het
Slc34a3	G	T	2: 25,229,245	Q538K	probably benign	Het
Slf1	C	T	13: 77,126,721		probably benign	Het
Ston1	G	T	17: 88,636,155	E330*	probably null	Het
Trhde	C	T	10: 114,592,066	E442K	probably damaging	Het
Unc45a	A	G	7: 80,331,546		probably benign	Het
Zfp169	A	G	13: 48,489,996	S552P	possibly damaging	Het
Zfp229	T	A	17: 21,746,816	C676S	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
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
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'- CCAGCCTGTGTTTAATGGAAGG -3'
(R):5'- TTAAGTGGTCACCGTGAAAGGG -3'

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

Posted On

2015-02-05