Mutagenetix > Incidental Mutation

Incidental Mutation 'R9478:Serpina3n'

715943

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9478 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104372988-104380588 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 104378672 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 331 (I331F)

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: I331F

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000021506
Gene: ENSMUSG00000021091
AA Change: I331F

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,451,573 (GRCm39)	I886F	possibly damaging	Het
3100002H09Rik	A	G	4: 124,504,151 (GRCm39)	S134P	unknown	Het
Abcf2	A	G	5: 24,770,940 (GRCm39)	L604P	possibly damaging	Het
Arih2	C	G	9: 108,488,938 (GRCm39)	R260P	probably damaging	Het
Atg14	G	T	14: 47,783,138 (GRCm39)	H373Q	probably damaging	Het
Atmin	C	T	8: 117,681,537 (GRCm39)	H179Y	probably damaging	Het
Catsperg1	G	T	7: 28,897,777 (GRCm39)	P197T	possibly damaging	Het
Ccdc7b	C	T	8: 129,837,473 (GRCm39)	Q155*	probably null	Het
Cep85l	T	G	10: 53,224,875 (GRCm39)	E238A	possibly damaging	Het
Cfap119	T	C	7: 127,184,087 (GRCm39)		probably null	Het
Cntln	G	A	4: 84,897,630 (GRCm39)	V406I	probably benign	Het
Csf2rb2	C	A	15: 78,168,965 (GRCm39)	G730V	probably benign	Het
Cyp3a59	T	A	5: 146,034,997 (GRCm39)	L225Q	probably damaging	Het
Dock1	T	A	7: 134,367,962 (GRCm39)	F511I	probably damaging	Het
Dsg1b	A	T	18: 20,531,008 (GRCm39)	Y453F		Het
Dync1h1	T	C	12: 110,625,137 (GRCm39)	F3829L	probably benign	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Esco2	C	A	14: 66,068,657 (GRCm39)	G218*	probably null	Het
Gale	C	T	4: 135,692,574 (GRCm39)		probably benign	Het
Grid1	G	A	14: 35,043,664 (GRCm39)	D340N	probably damaging	Het
Hgf	A	G	5: 16,766,029 (GRCm39)	D55G	possibly damaging	Het
Il17ra	A	G	6: 120,451,336 (GRCm39)	D170G	possibly damaging	Het
Inha	A	G	1: 75,486,562 (GRCm39)	S286G	probably benign	Het
Kif1b	C	T	4: 149,345,616 (GRCm39)		probably null	Het
Klhl24	T	G	16: 19,941,763 (GRCm39)	S570R	possibly damaging	Het
Krt87	G	A	15: 101,385,449 (GRCm39)	R308W	probably benign	Het
Lama2	T	A	10: 26,891,478 (GRCm39)	E2545V	probably damaging	Het
Lztfl1	T	C	9: 123,537,167 (GRCm39)	K165E	possibly damaging	Het
Mab21l3	A	T	3: 101,725,987 (GRCm39)	D336E	probably damaging	Het
Matn2	T	C	15: 34,345,242 (GRCm39)	I83T	probably damaging	Het
Mfsd9	T	C	1: 40,812,941 (GRCm39)	D458G	probably benign	Het
Ncbp3	A	G	11: 72,968,768 (GRCm39)	D513G	probably damaging	Het
Neb	T	A	2: 52,078,788 (GRCm39)	K5818N	probably benign	Het
Nol4	G	A	18: 23,053,934 (GRCm39)	P120S	probably damaging	Het
Oit3	C	A	10: 59,274,464 (GRCm39)	C112F	probably damaging	Het
Or11g27	A	T	14: 50,771,051 (GRCm39)	T61S	probably benign	Het
Or4b1	C	A	2: 89,979,595 (GRCm39)	A252S	possibly damaging	Het
Or5p52	G	A	7: 107,502,238 (GRCm39)	V105M	probably damaging	Het
Or6c6	T	A	10: 129,186,960 (GRCm39)	M176K	possibly damaging	Het
Pank4	G	A	4: 155,064,565 (GRCm39)	R708Q	probably benign	Het
Plch1	T	A	3: 63,606,825 (GRCm39)	L1026F	probably benign	Het
Poglut3	T	C	9: 53,303,236 (GRCm39)	F232L	probably damaging	Het
Ptpn3	A	T	4: 57,197,573 (GRCm39)	I772N	probably damaging	Het
Purb	A	G	11: 6,425,424 (GRCm39)	F155L	probably damaging	Het
Rcor2	C	T	19: 7,248,794 (GRCm39)	R256W	probably damaging	Het
Rp1	A	G	1: 4,417,545 (GRCm39)	L1189P	probably benign	Het
Scn1a	T	C	2: 66,156,493 (GRCm39)	E472G	probably benign	Het
Sema3e	T	C	5: 14,286,386 (GRCm39)	Y536H	probably damaging	Het
Sertad3	T	C	7: 27,175,679 (GRCm39)	S38P	probably damaging	Het
Sfrp4	G	T	13: 19,807,610 (GRCm39)	R3L	unknown	Het
Slc35a5	T	C	16: 44,964,426 (GRCm39)	E269G	probably damaging	Het
Snrnp200	G	A	2: 127,076,993 (GRCm39)		probably null	Het
Sumo1	A	G	1: 59,694,615 (GRCm39)		probably null	Het
Syne2	A	G	12: 76,154,387 (GRCm39)	K2020E	probably damaging	Het
Tcp10a	A	T	17: 7,601,740 (GRCm39)	T247S	probably benign	Het
Tgds	T	C	14: 118,352,544 (GRCm39)	D290G	possibly damaging	Het
Trav7d-3	A	T	14: 52,982,054 (GRCm39)	I32F	possibly damaging	Het
Vps41	A	G	13: 19,046,913 (GRCm39)	N788D		Het
Zfp521	G	A	18: 13,950,372 (GRCm39)	T1194I	probably damaging	Het
Zmynd8	C	A	2: 165,649,569 (GRCm39)	K841N	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
R3410: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
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'- CATTAGGGAGAGCAAAGTCATGTTG -3'
(R):5'- ATAGGTCTTCTCACACGTGTGC -3'

Sequencing Primer
(F):5'- AGGACTTCCCTGTAGTTAGAGGACTC -3'
(R):5'- GTGTGCCAATCCCACATGC -3'

Posted On

2022-06-15