Mutagenetix > Incidental Mutation

Incidental Mutation 'R9650:Serpina3f'

727054

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R9650 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104180803-104187388 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 104186519 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 362 (A362T)

Ref Sequence

ENSEMBL: ENSMUSP00000098641 (fasta)

Gene Model

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

AlphaFold

Q80X76

Predicted Effect

possibly damaging
Transcript: ENSMUST00000101080
AA Change: A362T

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000098641
Gene: ENSMUSG00000066363
AA Change: A362T

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000121337
AA Change: A362T

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113945
Gene: ENSMUSG00000066363
AA Change: A362T

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167049
AA Change: A362T

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126520
Gene: ENSMUSG00000066363
AA Change: A362T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	A	11: 110,071,446 (GRCm39)	N1469Y	probably benign	Het
Actl10	T	A	2: 154,394,682 (GRCm39)	N211K	probably benign	Het
Adam33	C	T	2: 130,894,989 (GRCm39)	V690M	possibly damaging	Het
Agap2	G	A	10: 126,927,653 (GRCm39)	R1178H	unknown	Het
Ank2	T	A	3: 126,735,829 (GRCm39)	T3352S	unknown	Het
BC005537	T	A	13: 24,986,122 (GRCm39)	D7E	unknown	Het
Bptf	T	C	11: 106,935,412 (GRCm39)	M142V	probably benign	Het
Cox15	A	G	19: 43,735,318 (GRCm39)	Y150H	probably benign	Het
Cpq	A	T	15: 33,497,405 (GRCm39)	I382F	possibly damaging	Het
Cps1	T	C	1: 67,254,636 (GRCm39)	F1275S		Het
Cs	T	A	10: 128,196,856 (GRCm39)	M417K	probably benign	Het
Cyp2b19	G	A	7: 26,466,208 (GRCm39)	R337Q	possibly damaging	Het
Dmgdh	A	T	13: 93,845,333 (GRCm39)	Y442F	probably benign	Het
Dync2h1	A	T	9: 7,174,849 (GRCm39)	D131E	possibly damaging	Het
Epb41l2	A	G	10: 25,369,495 (GRCm39)	I605V	probably benign	Het
Evc	G	A	5: 37,458,162 (GRCm39)	P963L	probably damaging	Het
Evl	C	A	12: 108,641,698 (GRCm39)	T160N	probably benign	Het
Fam76a	T	C	4: 132,629,387 (GRCm39)	Y255C	probably damaging	Het
Fras1	G	T	5: 96,910,387 (GRCm39)	R3272L	probably damaging	Het
Fry	T	C	5: 150,369,375 (GRCm39)	V2283A	probably damaging	Het
Fzd6	A	G	15: 38,894,941 (GRCm39)	Y369C	probably damaging	Het
Hip1r	T	C	5: 124,135,357 (GRCm39)		probably null	Het
Hps5	A	G	7: 46,425,354 (GRCm39)	S449P	probably damaging	Het
Ighv1-34	G	T	12: 114,814,885 (GRCm39)	D92E	possibly damaging	Het
Iigp1c	T	G	18: 60,379,470 (GRCm39)	V335G	probably damaging	Het
Ino80	C	T	2: 119,277,464 (GRCm39)	R337Q	probably damaging	Het
Itgax	T	C	7: 127,734,935 (GRCm39)	I422T	probably benign	Het
Itk	A	T	11: 46,222,778 (GRCm39)	Y564N	probably damaging	Het
Kcnh5	A	C	12: 75,023,293 (GRCm39)	S592A	probably benign	Het
Klhl40	T	A	9: 121,609,083 (GRCm39)	V416E	possibly damaging	Het
Lhfpl4	T	C	6: 113,171,147 (GRCm39)	E13G	probably benign	Het
Mid1	C	G	X: 168,768,003 (GRCm39)	P384A	probably benign	Het
Muc16	A	T	9: 18,553,762 (GRCm39)	M4177K	unknown	Het
Ngef	T	A	1: 87,415,552 (GRCm39)	T371S	possibly damaging	Het
Nutm2	A	T	13: 50,623,755 (GRCm39)	T151S	probably benign	Het
Or4c109	A	T	2: 88,818,006 (GRCm39)	L180*	probably null	Het
Or51f2	T	C	7: 102,526,987 (GRCm39)	I220T	probably damaging	Het
Pate13	A	C	9: 35,820,799 (GRCm39)	M84L	probably benign	Het
Pcdhga8	T	A	18: 37,860,519 (GRCm39)	I525K	probably benign	Het
Pcx	C	T	19: 4,657,714 (GRCm39)	R394C	probably damaging	Het
Pnmt	A	T	11: 98,278,262 (GRCm39)	D112V	probably damaging	Het
Rnf115	C	T	3: 96,665,337 (GRCm39)	T69I	probably damaging	Het
Rrp7a	A	T	15: 83,004,091 (GRCm39)		probably null	Het
Senp1	A	T	15: 97,946,248 (GRCm39)	M499K	probably damaging	Het
Slc29a3	T	A	10: 60,586,302 (GRCm39)	I55F	possibly damaging	Het
Stab2	ACC	AC	10: 86,692,561 (GRCm39)		probably null	Het
Tln1	G	A	4: 43,545,912 (GRCm39)	T901I	probably damaging	Het
Tmem102	T	C	11: 69,695,869 (GRCm39)	K64R	probably benign	Het
Tmem135	G	C	7: 88,797,186 (GRCm39)	L357V	probably benign	Het
Tnxb	G	A	17: 34,930,629 (GRCm39)	V2105I	probably damaging	Het
Traf2	A	C	2: 25,410,454 (GRCm39)	C391W	probably damaging	Het
Tubgcp3	A	G	8: 12,705,974 (GRCm39)	S183P	probably benign	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 115,958,998 (GRCm39)		probably benign	Het
Usp2	C	A	9: 44,000,476 (GRCm39)	N288K	probably damaging	Het
Utrn	T	C	10: 12,613,929 (GRCm39)	T381A	probably benign	Het
Vil1	C	T	1: 74,464,775 (GRCm39)	P474L	probably benign	Het
Wasf2	T	A	4: 132,917,457 (GRCm39)	N185K	unknown	Het
Zfp865	A	G	7: 5,037,683 (GRCm39)	M45V	unknown	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
R3926:Serpina3f	UTSW	12	104,185,740 (GRCm39)	missense	possibly damaging	0.58
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
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'- GCCTCATCTCACAGCTTGAAC -3'
(R):5'- TTGGGGAAAAGCATACTCCAC -3'

Sequencing Primer
(F):5'- TCTCACAGCTTGAACAGAGACTTGG -3'
(R):5'- GCATACTCCACATTTAGGAAGTTCTC -3'

Posted On

2022-10-06