Mutagenetix > Incidental Mutation

Incidental Mutation 'R7043:Serpinb9f'

547177

Institutional Source

Beutler Lab

Gene Symbol

Serpinb9f

Ensembl Gene

ENSMUSG00000038327

Gene Name

serine (or cysteine) peptidase inhibitor, clade B, member 9f

Synonyms

NK21, ovalbumin, Spi13

MMRRC Submission

045142-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R7043 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33508060-33519353 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 33509970 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 54 (I54T)

Ref Sequence

ENSEMBL: ENSMUSP00000074958 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075515]

AlphaFold

Q80UK5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075515
AA Change: I54T

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000074958
Gene: ENSMUSG00000038327
AA Change: I54T

Domain	Start	End	E-Value	Type
SERPIN	13	377	2.03e-166	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	G	17: 24,484,474 (GRCm39)	L1596P	probably damaging	Het
Actr3b	A	G	5: 26,054,936 (GRCm39)	M329V	probably benign	Het
Avpr1a	C	T	10: 122,285,586 (GRCm39)	R293C	probably damaging	Het
Bdp1	A	T	13: 100,215,215 (GRCm39)	C390S	probably benign	Het
C2cd2l	A	T	9: 44,227,848 (GRCm39)	M131K	probably damaging	Het
Ccna2	T	C	3: 36,624,302 (GRCm39)		probably benign	Het
Cd53	T	C	3: 106,670,577 (GRCm39)	D152G	probably damaging	Het
Cdpf1	A	T	15: 85,692,485 (GRCm39)	V66E	probably null	Het
Chd9	G	T	8: 91,760,843 (GRCm39)		probably benign	Het
Crybg2	A	G	4: 133,818,447 (GRCm39)	D1710G	probably benign	Het
Dst	A	G	1: 34,296,992 (GRCm39)	T5794A	probably damaging	Het
Eif2s1	G	T	12: 78,923,882 (GRCm39)	R113L	probably damaging	Het
Eif5	A	G	12: 111,511,030 (GRCm39)	D423G	probably benign	Het
Eri1	A	C	8: 35,945,792 (GRCm39)	D164E	probably damaging	Het
F7	A	T	8: 13,083,997 (GRCm39)	R227S	probably benign	Het
Gm14496	T	G	2: 181,642,120 (GRCm39)	I597S	possibly damaging	Het
Gpr85	T	A	6: 13,835,876 (GRCm39)	N343Y	probably damaging	Het
H2-T23	A	T	17: 36,342,803 (GRCm39)	S112T	probably damaging	Het
Itga9	C	T	9: 118,598,184 (GRCm39)	P573S	probably damaging	Het
Kcnb2	A	T	1: 15,383,150 (GRCm39)	M159L	probably benign	Het
Kmt5b	T	A	19: 3,865,220 (GRCm39)	S738R	possibly damaging	Het
Lrp1b	T	C	2: 40,812,426 (GRCm39)	N2393S	possibly damaging	Het
Mme	T	A	3: 63,252,638 (GRCm39)	Y427*	probably null	Het
Naip1	A	G	13: 100,563,422 (GRCm39)	V581A	probably damaging	Het
Ndel1	A	G	11: 68,713,450 (GRCm39)	L329P	possibly damaging	Het
Nthl1	T	G	17: 24,857,644 (GRCm39)	V281G	probably benign	Het
Or52ab2	C	A	7: 102,970,292 (GRCm39)		probably benign	Het
Per2	G	T	1: 91,347,130 (GRCm39)	H1197Q	probably benign	Het
Phf8-ps	T	C	17: 33,284,306 (GRCm39)	D832G	possibly damaging	Het
Plec	G	A	15: 76,093,328 (GRCm39)		probably benign	Het
Prpf6	A	T	2: 181,291,297 (GRCm39)	H704L	probably benign	Het
Recql5	C	T	11: 115,821,502 (GRCm39)		probably null	Het
Rimbp3	G	A	16: 17,028,972 (GRCm39)	V799M	probably damaging	Het
Sema3f	C	T	9: 107,568,599 (GRCm39)	A169T	possibly damaging	Het
Skint5	A	T	4: 113,574,304 (GRCm39)	L749Q	unknown	Het
Slc35g3	T	C	11: 69,652,476 (GRCm39)	D12G	probably benign	Het
Sptbn1	A	G	11: 30,053,323 (GRCm39)	V2252A	probably benign	Het
Stab2	T	C	10: 86,706,110 (GRCm39)	N1750S	probably damaging	Het
Supt5	C	A	7: 28,019,435 (GRCm39)	R543L	probably benign	Het
Syne1	T	C	10: 5,022,193 (GRCm39)	E7806G	possibly damaging	Het
Syt12	T	A	19: 4,501,049 (GRCm39)	M334L	probably benign	Het
Tk1	A	G	11: 117,706,779 (GRCm39)	*234R	probably null	Het
Trp73	T	G	4: 154,151,464 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,727,477 (GRCm39)		probably benign	Het
Vmn2r11	T	C	5: 109,200,098 (GRCm39)	I452V	probably benign	Het
Wwox	G	T	8: 115,406,578 (GRCm39)	V190L	probably damaging	Het
Wwp2	A	G	8: 108,184,532 (GRCm39)	H80R	probably benign	Het
Zc3h3	A	G	15: 75,681,485 (GRCm39)	I532T	probably damaging	Het
Zfp280d	A	G	9: 72,226,539 (GRCm39)	K328E	probably damaging	Het
Zfp365	A	G	10: 67,745,656 (GRCm39)	S41P	probably damaging	Het

Other mutations in Serpinb9f

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02113:Serpinb9f	APN	13	33,518,451 (GRCm39)	missense	probably damaging	1.00
IGL03272:Serpinb9f	APN	13	33,511,899 (GRCm39)	missense	probably damaging	1.00
R0112:Serpinb9f	UTSW	13	33,511,934 (GRCm39)	splice site	probably benign
R0254:Serpinb9f	UTSW	13	33,518,574 (GRCm39)	missense	probably damaging	1.00
R0498:Serpinb9f	UTSW	13	33,509,990 (GRCm39)	splice site	probably benign
R0711:Serpinb9f	UTSW	13	33,511,904 (GRCm39)	missense	probably damaging	1.00
R1004:Serpinb9f	UTSW	13	33,518,225 (GRCm39)	critical splice acceptor site	probably benign
R1913:Serpinb9f	UTSW	13	33,509,829 (GRCm39)	missense	probably damaging	1.00
R2214:Serpinb9f	UTSW	13	33,518,592 (GRCm39)	missense	probably benign	0.00
R3908:Serpinb9f	UTSW	13	33,511,919 (GRCm39)	missense	probably damaging	0.99
R6182:Serpinb9f	UTSW	13	33,518,405 (GRCm39)	missense	probably damaging	1.00
R6421:Serpinb9f	UTSW	13	33,518,516 (GRCm39)	missense	probably benign	0.01
R6965:Serpinb9f	UTSW	13	33,509,859 (GRCm39)	missense	possibly damaging	0.50
R7406:Serpinb9f	UTSW	13	33,518,543 (GRCm39)	nonsense	probably null
R8182:Serpinb9f	UTSW	13	33,518,603 (GRCm39)	missense	probably benign	0.03
R8234:Serpinb9f	UTSW	13	33,509,898 (GRCm39)	missense	probably benign
R8341:Serpinb9f	UTSW	13	33,511,290 (GRCm39)	nonsense	probably null
R8492:Serpinb9f	UTSW	13	33,518,587 (GRCm39)	missense	probably damaging	1.00
R8794:Serpinb9f	UTSW	13	33,513,396 (GRCm39)	missense	probably benign	0.15
R9433:Serpinb9f	UTSW	13	33,518,238 (GRCm39)	missense	probably benign	0.00
R9508:Serpinb9f	UTSW	13	33,518,515 (GRCm39)	missense	probably benign
X0019:Serpinb9f	UTSW	13	33,518,517 (GRCm39)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- ACACTGCATCATGAATACTCTGTC -3'
(R):5'- TCCCAGGCTCCATCAAATAGTATG -3'

Sequencing Primer
(F):5'- GAATACTCTGTCTCAAGCCAATGG -3'
(R):5'- CAAGTAGCCTAGGGATTTTCCAGC -3'

Posted On

2019-05-13