Mutagenetix > Incidental Mutation

Incidental Mutation 'R3926:Serpina3f'

308296

Institutional Source

Beutler Lab

Gene Symbol

Serpina3f

Ensembl Gene

ENSMUSG00000066363

Gene Name

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

Synonyms

2A1, alpha-1 antiproteinasin, antitrypsin

MMRRC Submission

040821-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R3926 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104180803-104187388 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104185740 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 315 (I315T)

Ref Sequence

ENSEMBL: ENSMUSP00000126520 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101080] [ENSMUST00000121337] [ENSMUST00000167049]

AlphaFold

Q80X76

Predicted Effect

possibly damaging
Transcript: ENSMUST00000101080
AA Change: I315T

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000098641
Gene: ENSMUSG00000066363
AA Change: I315T

Domain	Start	End	E-Value	Type
SERPIN	46	408	1.58e-186	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000121337
AA Change: I315T

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000113945
Gene: ENSMUSG00000066363
AA Change: I315T

Domain	Start	End	E-Value	Type
SERPIN	46	408	1.58e-186	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167049
AA Change: I315T

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000126520
Gene: ENSMUSG00000066363
AA Change: I315T

Domain	Start	End	E-Value	Type
SERPIN	46	408	1.58e-186	SMART

Meta Mutation Damage Score

0.1984

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.6%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
Ahnak	G	A	19: 8,983,692 (GRCm39)	D1659N	probably benign	Het
Arfgap2	C	T	2: 91,105,150 (GRCm39)	R405W	probably damaging	Het
Asb14	T	C	14: 26,619,695 (GRCm39)	I48T	possibly damaging	Het
Astn1	A	T	1: 158,407,227 (GRCm39)	I559F	possibly damaging	Het
Atg7	C	T	6: 114,650,639 (GRCm39)	T83M	possibly damaging	Het
Bco1	T	C	8: 117,854,211 (GRCm39)	S379P	probably benign	Het
Becn2	T	C	1: 175,748,852 (GRCm39)	V306A	probably benign	Het
Bst1	T	C	5: 43,997,796 (GRCm39)	V265A	possibly damaging	Het
Car11	T	C	7: 45,349,915 (GRCm39)	F45L	probably benign	Het
Cdkl2	T	C	5: 92,180,998 (GRCm39)	I214V	possibly damaging	Het
Cluap1	T	A	16: 3,729,398 (GRCm39)	S141T	probably damaging	Het
Col11a1	C	T	3: 113,883,773 (GRCm39)		probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Corin	T	G	5: 72,529,473 (GRCm39)	D294A	probably damaging	Het
Crct1	C	A	3: 92,922,014 (GRCm39)		probably benign	Het
Ddx41	A	G	13: 55,679,083 (GRCm39)	L559P	probably damaging	Het
Ddx59	T	A	1: 136,344,482 (GRCm39)	V51D	probably benign	Het
Dennd1b	A	G	1: 139,071,697 (GRCm39)	N397D	probably benign	Het
Evc2	T	A	5: 37,540,574 (GRCm39)	L590Q	probably damaging	Het
Fhl5	A	T	4: 25,214,790 (GRCm39)		probably benign	Het
Flg2	A	G	3: 93,110,522 (GRCm39)	Y850C	unknown	Het
Gal3st2b	G	T	1: 93,868,512 (GRCm39)	V246L	probably benign	Het
Jam3	A	T	9: 27,017,701 (GRCm39)	I29K	possibly damaging	Het
Klhl1	A	T	14: 96,584,316 (GRCm39)	C305S	possibly damaging	Het
Lims2	A	G	18: 32,090,996 (GRCm39)	S327G	probably benign	Het
Lynx1	A	G	15: 74,623,205 (GRCm39)	Y76H	probably damaging	Het
Mycbp2	G	A	14: 103,441,936 (GRCm39)	P1943L	probably damaging	Het
Myo3a	A	G	2: 22,455,053 (GRCm39)	D86G	probably damaging	Het
Nkx3-2	T	A	5: 41,919,223 (GRCm39)	Q255L	probably damaging	Het
Notch3	C	T	17: 32,372,531 (GRCm39)	R641H	possibly damaging	Het
Nr2c2	T	A	6: 92,137,382 (GRCm39)	M431K	probably damaging	Het
Ogfod3	T	C	11: 121,074,255 (GRCm39)	T265A	probably damaging	Het
Pcdh9	G	T	14: 94,124,246 (GRCm39)	Y641*	probably null	Het
Pcdha9	T	A	18: 37,132,465 (GRCm39)	D511E	probably damaging	Het
Pcdhgb8	A	G	18: 37,895,443 (GRCm39)	Y171C	probably damaging	Het
Pcnx1	T	C	12: 82,005,505 (GRCm39)	C1075R	probably damaging	Het
Pik3c3	C	A	18: 30,444,382 (GRCm39)		probably benign	Het
Pkhd1	T	C	1: 20,621,097 (GRCm39)	T854A	probably benign	Het
Pycr1	T	C	11: 120,532,961 (GRCm39)	T100A	probably benign	Het
Rhof	T	C	5: 123,242,593 (GRCm39)		probably null	Het
Scn9a	T	A	2: 66,357,217 (GRCm39)	D1028V	possibly damaging	Het
Slc1a6	T	A	10: 78,648,715 (GRCm39)	S479T	possibly damaging	Het
Tmcc1	T	C	6: 116,019,874 (GRCm39)	D166G	probably damaging	Het
Trav3-3	A	G	14: 53,903,828 (GRCm39)	K49E	probably benign	Het
Usp28	T	C	9: 48,942,223 (GRCm39)		probably null	Het
Utrn	C	T	10: 12,573,786 (GRCm39)	V1095I	probably benign	Het
Zfp217	T	C	2: 169,954,438 (GRCm39)	D1038G	probably damaging	Het
Zfp709	A	G	8: 72,644,397 (GRCm39)	R609G	probably damaging	Het
Zfp729a	T	A	13: 67,768,310 (GRCm39)	K640*	probably null	Het
Zfp986	A	T	4: 145,619,090 (GRCm39)		probably benign	Het
Zkscan6	A	T	11: 65,719,051 (GRCm39)	H357L	probably benign	Het

Other mutations in Serpina3f

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00645:Serpina3f	APN	12	104,183,599 (GRCm39)	missense	probably benign	0.44
IGL01375:Serpina3f	APN	12	104,186,735 (GRCm39)	missense	unknown
IGL01575:Serpina3f	APN	12	104,184,699 (GRCm39)	missense	probably damaging	1.00
IGL01712:Serpina3f	APN	12	104,184,657 (GRCm39)	missense	probably damaging	1.00
IGL02001:Serpina3f	APN	12	104,185,725 (GRCm39)	missense	probably damaging	1.00
IGL02882:Serpina3f	APN	12	104,183,263 (GRCm39)	missense	probably damaging	1.00
IGL03145:Serpina3f	APN	12	104,183,716 (GRCm39)	missense	probably benign	0.06
R0158:Serpina3f	UTSW	12	104,183,267 (GRCm39)	missense	probably damaging	1.00
R0739:Serpina3f	UTSW	12	104,184,612 (GRCm39)	missense	probably damaging	1.00
R1667:Serpina3f	UTSW	12	104,183,699 (GRCm39)	missense	probably damaging	1.00
R1800:Serpina3f	UTSW	12	104,183,665 (GRCm39)	missense	probably damaging	1.00
R2010:Serpina3f	UTSW	12	104,183,582 (GRCm39)	missense	probably damaging	1.00
R2356:Serpina3f	UTSW	12	104,183,626 (GRCm39)	nonsense	probably null
R3959:Serpina3f	UTSW	12	104,183,399 (GRCm39)	missense	probably damaging	1.00
R4619:Serpina3f	UTSW	12	104,183,549 (GRCm39)	missense	possibly damaging	0.93
R4765:Serpina3f	UTSW	12	104,185,690 (GRCm39)	missense	probably benign	0.03
R4977:Serpina3f	UTSW	12	104,183,314 (GRCm39)	missense	probably benign	0.00
R4994:Serpina3f	UTSW	12	104,186,615 (GRCm39)	missense	probably benign	0.04
R5432:Serpina3f	UTSW	12	104,186,577 (GRCm39)	missense	possibly damaging	0.79
R5733:Serpina3f	UTSW	12	104,183,182 (GRCm39)	missense	possibly damaging	0.63
R7670:Serpina3f	UTSW	12	104,183,525 (GRCm39)	missense	probably damaging	1.00
R7727:Serpina3f	UTSW	12	104,184,477 (GRCm39)	missense	probably benign	0.37
R7754:Serpina3f	UTSW	12	104,183,565 (GRCm39)	missense	possibly damaging	0.69
R8150:Serpina3f	UTSW	12	104,185,769 (GRCm39)	missense	probably damaging	1.00
R8798:Serpina3f	UTSW	12	104,183,702 (GRCm39)	missense	probably benign	0.07
R8801:Serpina3f	UTSW	12	104,185,737 (GRCm39)	missense	probably benign	0.16
R8974:Serpina3f	UTSW	12	104,183,642 (GRCm39)	missense	probably damaging	1.00
R9223:Serpina3f	UTSW	12	104,183,444 (GRCm39)	missense	possibly damaging	0.95
R9239:Serpina3f	UTSW	12	104,184,710 (GRCm39)	missense	possibly damaging	0.91
R9623:Serpina3f	UTSW	12	104,183,743 (GRCm39)	missense	probably damaging	0.99
R9650:Serpina3f	UTSW	12	104,186,519 (GRCm39)	missense	possibly damaging	0.88
R9726:Serpina3f	UTSW	12	104,184,698 (GRCm39)	missense	probably damaging	1.00
X0028:Serpina3f	UTSW	12	104,183,530 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- ACACTTTCATGCACTGACGG -3'
(R):5'- ATTTGCCAATGCCACATACC -3'

Sequencing Primer
(F):5'- CATGCACTGACGGGTAATTAATG -3'
(R):5'- TGCCACATACCGACATACCCTTAAC -3'

Posted On

2015-04-17