Mutagenetix > Incidental Mutation

Incidental Mutation 'R3410:Serpina3n'

258485

Institutional Source

Beutler Lab

Gene Symbol

Serpina3n

Ensembl Gene

ENSMUSG00000021091

Gene Name

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

Synonyms

antitrypsin, Spi2/eb.4, alpha-1 antiproteinase, Spi2-2, Spi2.2

MMRRC Submission

040628-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3410 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104372988-104380588 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104377536 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 263 (E263G)

Ref Sequence

ENSEMBL: ENSMUSP00000021506 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021506]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021506
AA Change: E263G

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000021506
Gene: ENSMUSG00000021091
AA Change: E263G

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
SERPIN	56	417	7.64e-194	SMART

Meta Mutation Damage Score

0.3853

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adad2	T	C	8: 120,342,708 (GRCm39)	V418A	probably benign	Het
Adamts16	T	C	13: 70,901,345 (GRCm39)	T911A	probably benign	Het
Adgra1	T	C	7: 139,427,619 (GRCm39)	F62S	possibly damaging	Het
Adgra3	A	G	5: 50,159,272 (GRCm39)	V326A	probably damaging	Het
Adgrg6	A	G	10: 14,316,114 (GRCm39)	F569S	probably benign	Het
Alcam	T	C	16: 52,130,261 (GRCm39)	T30A	probably null	Het
Arnt2	G	A	7: 83,924,655 (GRCm39)	R391W	probably damaging	Het
Ascc3	T	C	10: 50,576,196 (GRCm39)	V817A	probably damaging	Het
Atp13a4	G	T	16: 29,232,567 (GRCm39)	T923K	probably damaging	Het
Atp5po	C	T	16: 91,725,794 (GRCm39)	R64H	probably damaging	Het
Ccdc185	T	G	1: 182,576,313 (GRCm39)	Q125H	possibly damaging	Het
Ccdc88a	T	A	11: 29,436,006 (GRCm39)	C10S	probably damaging	Het
Cct2	T	C	10: 116,897,968 (GRCm39)	N73S	probably benign	Het
Clock	G	A	5: 76,377,401 (GRCm39)	Q633*	probably null	Het
Col6a2	T	C	10: 76,439,193 (GRCm39)	I826V	probably benign	Het
Cpsf1	G	T	15: 76,485,981 (GRCm39)	Y396*	probably null	Het
Dnah1	A	T	14: 30,991,774 (GRCm39)	M3076K	possibly damaging	Het
Dxo	A	G	17: 35,057,825 (GRCm39)	N177D	probably damaging	Het
Fbxw28	A	T	9: 109,167,472 (GRCm39)	V95E	possibly damaging	Het
Galnt6	T	C	15: 100,597,018 (GRCm39)	N383D	probably damaging	Het
Gpat2	G	A	2: 127,270,211 (GRCm39)	V75M	probably damaging	Het
Grik5	T	C	7: 24,762,397 (GRCm39)	D198G	probably benign	Het
Gsdmc4	A	G	15: 63,763,895 (GRCm39)	S401P	probably benign	Het
Gspt1	A	T	16: 11,047,109 (GRCm39)	D435E	probably damaging	Het
Hsf2	T	C	10: 57,381,378 (GRCm39)	S266P	probably damaging	Het
Jade2	T	C	11: 51,708,050 (GRCm39)	D721G	probably benign	Het
Klhl7	G	T	5: 24,343,319 (GRCm39)	V212L	probably damaging	Het
Klra17	T	A	6: 129,851,809 (GRCm39)	N21I	probably damaging	Het
L3mbtl3	T	C	10: 26,215,197 (GRCm39)	N196S	unknown	Het
Lama3	G	C	18: 12,546,915 (GRCm39)		probably null	Het
Mcm5	T	C	8: 75,848,272 (GRCm39)	M507T	possibly damaging	Het
Mycbp2	T	C	14: 103,372,553 (GRCm39)	R814G	probably damaging	Het
Nlrp4b	A	G	7: 10,449,456 (GRCm39)	E186G	probably damaging	Het
Nlrp4c	A	G	7: 6,095,569 (GRCm39)	K816E	possibly damaging	Het
Nod1	G	T	6: 54,921,902 (GRCm39)	R139S	probably benign	Het
Nudcd1	T	C	15: 44,284,207 (GRCm39)	M60V	probably benign	Het
Or5b101	G	C	19: 13,005,411 (GRCm39)	A94G	probably benign	Het
Or5p63	G	A	7: 107,811,490 (GRCm39)	P82L	possibly damaging	Het
Or5p69	A	T	7: 107,967,551 (GRCm39)	I285F	possibly damaging	Het
Or8g28	G	T	9: 39,169,897 (GRCm39)	Q24K	possibly damaging	Het
Ovol2	A	G	2: 144,159,796 (GRCm39)	S82P	probably benign	Het
Ppl	T	C	16: 4,925,381 (GRCm39)	E86G	possibly damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Ripk4	T	C	16: 97,545,157 (GRCm39)	T497A	probably benign	Het
Scml4	A	G	10: 42,833,667 (GRCm39)	Y327C	probably damaging	Het
Six4	A	G	12: 73,159,657 (GRCm39)	F101S	probably damaging	Het
Sltm	T	G	9: 70,493,240 (GRCm39)	L728V	probably damaging	Het
Sptb	T	G	12: 76,657,589 (GRCm39)	K1311Q	possibly damaging	Het
Sycp1	T	C	3: 102,748,357 (GRCm39)	K812E	possibly damaging	Het
Tenm4	T	C	7: 96,501,737 (GRCm39)	Y1314H	probably damaging	Het
Tmem67	A	T	4: 12,073,952 (GRCm39)	M288K	probably benign	Het
Toporsl	T	C	4: 52,610,970 (GRCm39)	S288P	probably benign	Het
Ttn	A	C	2: 76,772,749 (GRCm39)	N2415K	possibly damaging	Het
Vmn2r65	T	C	7: 84,595,896 (GRCm39)	I263V	probably benign	Het
Vmn2r89	A	T	14: 51,693,628 (GRCm39)	E326V	probably damaging	Het
Wdr81	A	G	11: 75,343,758 (GRCm39)	I503T	probably damaging	Het

Other mutations in Serpina3n

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00534:Serpina3n	APN	12	104,378,604 (GRCm39)	missense	probably benign	0.39
IGL01930:Serpina3n	APN	12	104,375,231 (GRCm39)	missense	probably damaging	1.00
IGL01989:Serpina3n	APN	12	104,379,750 (GRCm39)	missense	probably benign
IGL02419:Serpina3n	APN	12	104,379,777 (GRCm39)	missense	possibly damaging	0.95
R0098:Serpina3n	UTSW	12	104,379,777 (GRCm39)	missense	probably damaging	1.00
R0098:Serpina3n	UTSW	12	104,379,777 (GRCm39)	missense	probably damaging	1.00
R0149:Serpina3n	UTSW	12	104,377,635 (GRCm39)	missense	probably benign	0.03
R1872:Serpina3n	UTSW	12	104,375,203 (GRCm39)	missense	probably benign	0.33
R1879:Serpina3n	UTSW	12	104,375,213 (GRCm39)	missense	probably benign	0.16
R2018:Serpina3n	UTSW	12	104,375,473 (GRCm39)	missense	probably damaging	0.97
R2315:Serpina3n	UTSW	12	104,378,627 (GRCm39)	missense	possibly damaging	0.77
R2968:Serpina3n	UTSW	12	104,375,333 (GRCm39)	missense	probably benign	0.12
R2969:Serpina3n	UTSW	12	104,375,333 (GRCm39)	missense	probably benign	0.12
R2970:Serpina3n	UTSW	12	104,375,333 (GRCm39)	missense	probably benign	0.12
R3409:Serpina3n	UTSW	12	104,377,536 (GRCm39)	missense	possibly damaging	0.93
R3411:Serpina3n	UTSW	12	104,377,536 (GRCm39)	missense	possibly damaging	0.93
R4030:Serpina3n	UTSW	12	104,377,660 (GRCm39)	critical splice donor site	probably null
R4388:Serpina3n	UTSW	12	104,377,616 (GRCm39)	missense	probably benign	0.11
R4659:Serpina3n	UTSW	12	104,379,752 (GRCm39)	missense	probably benign	0.03
R4728:Serpina3n	UTSW	12	104,375,422 (GRCm39)	missense	probably benign
R4783:Serpina3n	UTSW	12	104,375,369 (GRCm39)	missense	possibly damaging	0.84
R5001:Serpina3n	UTSW	12	104,374,998 (GRCm39)	missense	probably benign	0.00
R5983:Serpina3n	UTSW	12	104,375,288 (GRCm39)	missense	probably damaging	1.00
R6767:Serpina3n	UTSW	12	104,375,321 (GRCm39)	missense	probably benign	0.01
R7001:Serpina3n	UTSW	12	104,375,184 (GRCm39)	missense	probably benign	0.00
R7468:Serpina3n	UTSW	12	104,377,656 (GRCm39)	missense	probably benign	0.16
R9142:Serpina3n	UTSW	12	104,379,710 (GRCm39)	missense	probably damaging	0.96
R9180:Serpina3n	UTSW	12	104,377,440 (GRCm39)	missense	probably benign	0.00
R9478:Serpina3n	UTSW	12	104,378,672 (GRCm39)	missense	possibly damaging	0.56
X0027:Serpina3n	UTSW	12	104,377,446 (GRCm39)	missense	probably benign	0.00
X0067:Serpina3n	UTSW	12	104,377,529 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACTCAGAAGCGGTGTTAACTG -3'
(R):5'- CCTTAGGCTGAGGACAGAAC -3'

Sequencing Primer
(F):5'- AGTCTCTGCGGCTGTTGAATC -3'
(R):5'- CTGAGGACAGAACAGGGAAC -3'

Posted On

2015-01-23