Mutagenetix > Incidental Mutation

Incidental Mutation 'R4765:Serpina3f'

366082

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

042406-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R4765 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104214544-104221129 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 104219431 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 298 (E298D)

Ref Sequence

ENSEMBL: ENSMUSP00000126520 (fasta)

Gene Model

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

AlphaFold

Q80X76

Predicted Effect

probably benign
Transcript: ENSMUST00000101080
AA Change: E298D

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000098641
Gene: ENSMUSG00000066363
AA Change: E298D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000121337
AA Change: E298D

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000113945
Gene: ENSMUSG00000066363
AA Change: E298D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000167049
AA Change: E298D

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000126520
Gene: ENSMUSG00000066363
AA Change: E298D

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	C	T	11: 58,881,161	R490C	probably benign	Het
Abcb11	A	T	2: 69,245,867	F1166I	probably damaging	Het
Acta2	T	C	19: 34,246,152	D181G	probably damaging	Het
Adgrv1	A	G	13: 81,106,919	I6195T	probably damaging	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Ankfy1	T	G	11: 72,712,291	S49A	probably benign	Het
Azi2	A	T	9: 118,061,471		probably benign	Het
Bend3	A	T	10: 43,510,750	S380C	probably damaging	Het
Bicc1	T	C	10: 70,940,593	T759A	probably damaging	Het
Cdh10	G	T	15: 19,013,278	V655L	probably damaging	Het
Cdkn2aip	C	A	8: 47,713,547	W75L	probably damaging	Het
Cenpj	G	A	14: 56,549,545	R192*	probably null	Het
Cflar	T	C	1: 58,732,321	S203P	probably damaging	Het
Chd6	A	T	2: 160,966,244	C1683*	probably null	Het
Cpsf2	A	G	12: 101,997,440	Y476C	probably damaging	Het
Cyp4a12a	A	G	4: 115,326,191	D169G	possibly damaging	Het
D430041D05Rik	T	A	2: 104,214,096	R1536S	probably damaging	Het
Depdc5	A	C	5: 32,937,635	D752A	probably damaging	Het
Dnah9	C	T	11: 65,927,726	G78D	probably damaging	Het
Drc1	G	T	5: 30,348,731	Q249H	probably benign	Het
Drg1	T	C	11: 3,250,280	I364V	probably benign	Het
Dtymk	T	C	1: 93,792,909	H130R	probably damaging	Het
Elac2	T	G	11: 64,992,222	F140V	probably damaging	Het
Enpp2	A	G	15: 54,875,672	V353A	possibly damaging	Het
Fat2	T	C	11: 55,281,187	D2900G	probably damaging	Het
Fermt2	G	T	14: 45,462,236	T536K	probably benign	Het
Foxj2	G	T	6: 122,833,271	Q196H	probably benign	Het
Gadl1	A	G	9: 115,966,313	K328R	probably null	Het
Gata6	A	G	18: 11,054,394	T108A	probably benign	Het
Gm16503	G	T	4: 147,541,097	G16V	unknown	Het
Gpr37	T	G	6: 25,669,108	E579A	probably damaging	Het
Gps2	T	C	11: 69,916,361		probably benign	Het
Hcn4	A	T	9: 58,857,977	I581F	unknown	Het
Hfm1	T	A	5: 106,842,539	Y1335F	probably benign	Het
Igsf10	A	T	3: 59,329,705	S1018R	probably benign	Het
Katnal2	C	T	18: 76,977,543		probably null	Het
Kctd8	T	C	5: 69,340,848	K152E	possibly damaging	Het
Lrp8	T	C	4: 107,854,395	C459R	probably damaging	Het
Ly6l	A	T	15: 75,449,694	I48L	probably benign	Het
Megf10	A	T	18: 57,287,794	I835F	possibly damaging	Het
Mei1	A	T	15: 82,112,485	I946F	possibly damaging	Het
Mkl2	C	A	16: 13,412,594	P1048T	probably damaging	Het
Myo7b	G	C	18: 31,961,900	L1881V	probably benign	Het
Nfkbiz	T	C	16: 55,819,024		probably null	Het
Olfr142	T	A	2: 90,252,463	Y175F	probably damaging	Het
Olfr1449	T	C	19: 12,935,076	C113R	possibly damaging	Het
Pcdhgc5	T	C	18: 37,822,069	S799P	probably benign	Het
Plk4	A	G	3: 40,802,022	E97G	probably damaging	Het
Pole2	A	T	12: 69,222,052	H114Q	possibly damaging	Het
Rad9a	C	A	19: 4,200,489	V109L	probably benign	Het
Scn8a	A	G	15: 101,040,471	H1917R	probably benign	Het
Scyl2	C	T	10: 89,659,298	V304I	probably damaging	Het
Shoc2	A	G	19: 53,988,303	E208G	probably benign	Het
Sin3a	G	A	9: 57,096,803	V280I	probably benign	Het
Slc26a2	A	T	18: 61,199,486	I291N	probably damaging	Het
Slc4a7	T	G	14: 14,762,414	D600E	probably damaging	Het
Slc5a6	A	T	5: 31,038,083	F430L	possibly damaging	Het
Snx19	A	C	9: 30,440,157	Q840H	probably damaging	Het
Spast	C	A	17: 74,369,216	D340E	probably damaging	Het
Sprr4	G	A	3: 92,500,409	P29S	unknown	Het
Stk11ip	T	G	1: 75,527,155	L239R	probably damaging	Het
Thoc6	A	G	17: 23,670,888	L20P	probably damaging	Het
Tnfrsf8	A	T	4: 145,296,877	S129T	probably benign	Het
Tnrc6c	A	G	11: 117,742,927	I1284V	probably benign	Het
Ttn	A	G	2: 76,710,987	L33885P	probably damaging	Het
Ttn	T	C	2: 76,772,507	Y16711C	probably damaging	Het
Ubn2	T	A	6: 38,479,140	C501S	probably damaging	Het
Ubr1	A	T	2: 120,963,442	L87*	probably null	Het
Uhmk1	T	C	1: 170,199,901	Y320C	probably damaging	Het
Vldlr	T	C	19: 27,240,547	V465A	probably damaging	Het
Vmn1r1	C	T	1: 182,157,906	A65T	probably benign	Het
Vmn2r25	C	T	6: 123,823,223	C720Y	probably damaging	Het
Xrra1	T	C	7: 99,906,568	Y381H	probably benign	Het
Zfhx4	T	C	3: 5,400,152	L1790P	probably benign	Het
Zscan4d	T	A	7: 11,162,667	M259L	probably benign	Het

Other mutations in Serpina3f

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00645:Serpina3f	APN	12	104217340	missense	probably benign	0.44
IGL01375:Serpina3f	APN	12	104220476	missense	unknown
IGL01575:Serpina3f	APN	12	104218440	missense	probably damaging	1.00
IGL01712:Serpina3f	APN	12	104218398	missense	probably damaging	1.00
IGL02001:Serpina3f	APN	12	104219466	missense	probably damaging	1.00
IGL02882:Serpina3f	APN	12	104217004	missense	probably damaging	1.00
IGL03145:Serpina3f	APN	12	104217457	missense	probably benign	0.06
R0158:Serpina3f	UTSW	12	104217008	missense	probably damaging	1.00
R0739:Serpina3f	UTSW	12	104218353	missense	probably damaging	1.00
R1667:Serpina3f	UTSW	12	104217440	missense	probably damaging	1.00
R1800:Serpina3f	UTSW	12	104217406	missense	probably damaging	1.00
R2010:Serpina3f	UTSW	12	104217323	missense	probably damaging	1.00
R2356:Serpina3f	UTSW	12	104217367	nonsense	probably null
R3926:Serpina3f	UTSW	12	104219481	missense	possibly damaging	0.58
R3959:Serpina3f	UTSW	12	104217140	missense	probably damaging	1.00
R4619:Serpina3f	UTSW	12	104217290	missense	possibly damaging	0.93
R4977:Serpina3f	UTSW	12	104217055	missense	probably benign	0.00
R4994:Serpina3f	UTSW	12	104220356	missense	probably benign	0.04
R5432:Serpina3f	UTSW	12	104220318	missense	possibly damaging	0.79
R5733:Serpina3f	UTSW	12	104216923	missense	possibly damaging	0.63
R7670:Serpina3f	UTSW	12	104217266	missense	probably damaging	1.00
R7727:Serpina3f	UTSW	12	104218218	missense	probably benign	0.37
R7754:Serpina3f	UTSW	12	104217306	missense	possibly damaging	0.69
R8150:Serpina3f	UTSW	12	104219510	missense	probably damaging	1.00
R8798:Serpina3f	UTSW	12	104217443	missense	probably benign	0.07
R8801:Serpina3f	UTSW	12	104219478	missense	probably benign	0.16
R8974:Serpina3f	UTSW	12	104217383	missense	probably damaging	1.00
R9223:Serpina3f	UTSW	12	104217185	missense	possibly damaging	0.95
R9239:Serpina3f	UTSW	12	104218451	missense	possibly damaging	0.91
R9623:Serpina3f	UTSW	12	104217484	missense	probably damaging	0.99
R9650:Serpina3f	UTSW	12	104220260	missense	possibly damaging	0.88
R9726:Serpina3f	UTSW	12	104218439	missense	probably damaging	1.00
X0028:Serpina3f	UTSW	12	104217271	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- ACACTTTCATGCACTGACGGG -3'
(R):5'- TTTGCCAATGCCACATACCG -3'

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

Posted On

2015-12-21