Mutagenetix > Incidental Mutation

Incidental Mutation 'R8437:Serpina3i'

654060

Institutional Source

Beutler Lab

Gene Symbol

Serpina3i

Ensembl Gene

ENSMUSG00000079014

Gene Name

serine (or cysteine) peptidase inhibitor, clade A, member 3I

Synonyms

alpha-1 antiproteinase, Gm6930, 2B2, antitrypsin

MMRRC Submission

067901-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R8437 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104263122-104269372 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104265704 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 200 (Y200C)

Ref Sequence

ENSEMBL: ENSMUSP00000105584 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109958]

AlphaFold

D3Z450

Predicted Effect

probably damaging
Transcript: ENSMUST00000109958
AA Change: Y200C

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

SMART Domains

Protein: ENSMUSP00000105584
Gene: ENSMUSG00000079014
AA Change: Y200C

Domain	Start	End	E-Value	Type
SERPIN	46	407	8.45e-187	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd2	T	C	7: 79,348,430 (GRCm38)	Y237H	probably damaging	Het
Adprh	T	C	16: 38,446,087 (GRCm38)	E231G	probably benign	Het
Anks6	T	C	4: 47,030,705 (GRCm38)	S631G	probably benign	Het
Bpifa5	T	A	2: 154,165,606 (GRCm38)	L156H	probably damaging	Het
Bsn	G	A	9: 108,111,452 (GRCm38)	A2367V	probably benign	Het
C8b	T	C	4: 104,786,843 (GRCm38)	Y236H	probably damaging	Het
Celf2	C	T	2: 6,547,145 (GRCm38)	G508S	probably damaging	Het
Clca1	T	C	3: 145,005,061 (GRCm38)	T794A	probably benign	Het
Col27a1	T	A	4: 63,319,464 (GRCm38)		probably benign	Het
Cyp2j12	C	T	4: 96,099,662 (GRCm38)	C497Y	probably damaging	Het
Dnmt3l	T	C	10: 78,052,768 (GRCm38)	I168T	possibly damaging	Het
Dtna	C	T	18: 23,590,341 (GRCm38)	Q201*	probably null	Het
Fetub	T	C	16: 22,934,235 (GRCm38)	S146P	possibly damaging	Het
Gak	T	G	5: 108,609,406 (GRCm38)	E242D	probably benign	Het
Gfpt2	T	A	11: 49,804,867 (GRCm38)		probably benign	Het
Ginm1	C	T	10: 7,770,366 (GRCm38)	C290Y	probably benign	Het
Hepacam	T	C	9: 37,384,710 (GRCm38)	S386P	probably damaging	Het
Hmcn2	C	A	2: 31,391,076 (GRCm38)	L1867I	probably benign	Het
Hnrnpa3	T	G	2: 75,662,675 (GRCm38)	S220A	unknown	Het
Hydin	A	G	8: 110,462,735 (GRCm38)	E1257G	probably damaging	Het
Ier3ip1	C	T	18: 76,930,178 (GRCm38)	A18V	probably damaging	Het
Ift140	T	A	17: 25,094,677 (GRCm38)	C1361S	probably damaging	Het
Il16	T	C	7: 83,652,143 (GRCm38)	Q955R	probably damaging	Het
Itpr3	T	G	17: 27,107,303 (GRCm38)	M1349R	probably damaging	Het
Kcnk4	C	T	19: 6,926,234 (GRCm38)	V316I	probably benign	Het
March6	A	G	15: 31,482,549 (GRCm38)	I501T	possibly damaging	Het
Msl2	T	A	9: 101,100,968 (GRCm38)	S180R	probably benign	Het
Muc16	C	T	9: 18,657,924 (GRCm38)	V1100I	unknown	Het
Nbas	T	C	12: 13,566,250 (GRCm38)	V2263A	possibly damaging	Het
Olfr1416	C	T	1: 92,480,465 (GRCm38)	S52N	probably benign	Het
Olfr853	C	T	9: 19,537,537 (GRCm38)	R131H	probably benign	Het
Pdilt	T	G	7: 119,514,886 (GRCm38)	I130L	possibly damaging	Het
Phldb3	A	G	7: 24,628,950 (GRCm38)	T640A	probably damaging	Het
Pole2	G	C	12: 69,204,187 (GRCm38)	Y467*	probably null	Het
Pxdn	C	T	12: 30,002,044 (GRCm38)	T740M	probably damaging	Het
Rabac1	T	C	7: 24,972,247 (GRCm38)	I83V	probably damaging	Het
Rrp7a	T	C	15: 83,117,572 (GRCm38)	Q245R	probably damaging	Het
Sae1	A	G	7: 16,370,354 (GRCm38)	V110A	probably damaging	Het
Sema3c	G	T	5: 17,662,938 (GRCm38)	V116F	probably damaging	Het
Slc25a45	C	T	19: 5,880,107 (GRCm38)	T35M	probably benign	Het
Speer4b	C	T	5: 27,498,820 (GRCm38)	R107Q	probably benign	Het
Sycp2	T	C	2: 178,364,858 (GRCm38)	T843A	probably damaging	Het
Tecta	T	A	9: 42,332,560 (GRCm38)	I2004F	probably damaging	Het
Tma16	T	C	8: 66,476,796 (GRCm38)	D182G	possibly damaging	Het
Topaz1	T	A	9: 122,781,362 (GRCm38)	Y1167*	probably null	Het
Uck1	C	A	2: 32,260,141 (GRCm38)		probably benign	Het
Usp25	A	G	16: 77,033,912 (GRCm38)	T19A	probably damaging	Het
Vpreb2	G	A	16: 17,980,889 (GRCm38)	G80S	probably damaging	Het
Wdfy4	A	G	14: 33,076,375 (GRCm38)	C2025R		Het
Zyg11a	T	A	4: 108,217,906 (GRCm38)	H6L	probably damaging	Het

Other mutations in Serpina3i

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00658:Serpina3i	APN	12	104,265,170 (GRCm38)	missense	possibly damaging	0.47
IGL01311:Serpina3i	APN	12	104,267,687 (GRCm38)	missense	probably damaging	1.00
IGL02661:Serpina3i	APN	12	104,265,256 (GRCm38)	nonsense	probably null
IGL02819:Serpina3i	APN	12	104,268,502 (GRCm38)	missense	probably damaging	1.00
FR4340:Serpina3i	UTSW	12	104,265,164 (GRCm38)	small insertion	probably benign
PIT4431001:Serpina3i	UTSW	12	104,265,173 (GRCm38)	missense	probably benign	0.03
R0091:Serpina3i	UTSW	12	104,265,164 (GRCm38)	missense	probably damaging	0.97
R0678:Serpina3i	UTSW	12	104,266,719 (GRCm38)	critical splice donor site	probably null
R1624:Serpina3i	UTSW	12	104,268,638 (GRCm38)	makesense	probably null
R4604:Serpina3i	UTSW	12	104,267,777 (GRCm38)	missense	possibly damaging	0.91
R4814:Serpina3i	UTSW	12	104,265,211 (GRCm38)	missense	probably benign	0.00
R5213:Serpina3i	UTSW	12	104,265,655 (GRCm38)	missense	probably benign
R5464:Serpina3i	UTSW	12	104,268,492 (GRCm38)	missense	possibly damaging	0.62
R5504:Serpina3i	UTSW	12	104,266,603 (GRCm38)	missense	probably damaging	1.00
R5723:Serpina3i	UTSW	12	104,265,500 (GRCm38)	missense	probably benign	0.09
R5828:Serpina3i	UTSW	12	104,265,215 (GRCm38)	missense	probably benign	0.35
R5922:Serpina3i	UTSW	12	104,266,507 (GRCm38)	missense	probably benign	0.15
R6194:Serpina3i	UTSW	12	104,266,503 (GRCm38)	missense	probably benign	0.21
R6235:Serpina3i	UTSW	12	104,266,532 (GRCm38)	missense	probably damaging	1.00
R6469:Serpina3i	UTSW	12	104,266,517 (GRCm38)	missense	probably damaging	1.00
R6631:Serpina3i	UTSW	12	104,266,466 (GRCm38)	missense	probably damaging	0.99
R7993:Serpina3i	UTSW	12	104,265,148 (GRCm38)	missense	possibly damaging	0.80
R8680:Serpina3i	UTSW	12	104,265,128 (GRCm38)	missense	possibly damaging	0.61
R9157:Serpina3i	UTSW	12	104,265,413 (GRCm38)	missense	probably damaging	1.00
R9249:Serpina3i	UTSW	12	104,265,469 (GRCm38)	nonsense	probably null
R9303:Serpina3i	UTSW	12	104,268,622 (GRCm38)	missense	probably damaging	0.98
R9305:Serpina3i	UTSW	12	104,268,622 (GRCm38)	missense	probably damaging	0.98
R9313:Serpina3i	UTSW	12	104,265,413 (GRCm38)	missense	probably damaging	1.00
R9424:Serpina3i	UTSW	12	104,268,471 (GRCm38)	missense	probably benign
R9572:Serpina3i	UTSW	12	104,268,484 (GRCm38)	missense	probably damaging	1.00
R9576:Serpina3i	UTSW	12	104,268,471 (GRCm38)	missense	probably benign
Z1176:Serpina3i	UTSW	12	104,267,730 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAAGGCAAGGGCTCTGTAC -3'
(R):5'- TCCAGGAATCCATTGATAGTGCAG -3'

Sequencing Primer
(F):5'- AAGGGCTCTGTACCAGGCTG -3'
(R):5'- CCATTGATAGTGCAGTTAGTAAGGC -3'

Posted On

2020-10-20