Mutagenetix > Incidental Mutation

Incidental Mutation 'R8234:Serpinb9f'

637283

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R8234 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33324077-33335370 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 33325915 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 30 (Y30F)

Ref Sequence

ENSEMBL: ENSMUSP00000074958 (fasta)

Gene Model

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

AlphaFold

Q80UK5

Predicted Effect

probably benign
Transcript: ENSMUST00000075515
AA Change: Y30F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000074958
Gene: ENSMUSG00000038327
AA Change: Y30F

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.8%

Validation Efficiency

100% (49/49)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	T	C	1: 105,753,510	S1180P	possibly damaging	Het
Abhd4	T	A	14: 54,261,676	M38K	probably benign	Het
Ackr1	T	A	1: 173,332,015	R312S	probably benign	Het
Akap9	T	C	5: 4,044,845	V2213A	probably benign	Het
Alox5	T	A	6: 116,413,874	R439W	probably damaging	Het
Atrn	A	T	2: 131,023,000		probably null	Het
Casd1	A	G	6: 4,601,209	N14S	probably damaging	Het
Cry2	T	C	2: 92,412,629	S542G	probably benign	Het
Cyb5rl	A	G	4: 107,068,738	Y39C	probably damaging	Het
Dmpk	A	T	7: 19,088,123	K335N	probably benign	Het
Dnaic1	A	G	4: 41,625,221	D395G	probably benign	Het
Dock4	C	T	12: 40,834,838		probably null	Het
Fmo4	T	C	1: 162,805,188	D198G	probably damaging	Het
Foxc2	G	A	8: 121,118,038	R475Q	probably damaging	Het
Gipr	C	A	7: 19,164,608	G37V	unknown	Het
Gm2046	A	T	12: 87,973,738	I71L	noncoding transcript	Het
Gpat3	T	C	5: 100,857,210		probably null	Het
Hcn4	A	G	9: 58,844,150	D353G	unknown	Het
Hectd4	T	A	5: 121,339,544	N2843K	possibly damaging	Het
Hmcn1	C	T	1: 150,594,010	V4973M	possibly damaging	Het
Il20rb	C	T	9: 100,459,210	S281N	probably benign	Het
Kcnh4	A	T	11: 100,752,267	N391K	possibly damaging	Het
Kitl	A	G	10: 100,051,846	T6A	probably damaging	Het
Krt36	A	G	11: 100,104,201	Y182H	probably damaging	Het
Lrp1b	T	G	2: 41,312,656	I1262L		Het
Mtf1	A	G	4: 124,844,246	E644G	probably benign	Het
Mtx2	A	G	2: 74,869,362	Y159C	probably damaging	Het
Nags	C	T	11: 102,148,998	S504F	probably damaging	Het
Ncam1	A	T	9: 49,545,223	F475L	probably damaging	Het
Nipal2	G	T	15: 34,600,032	T213N	possibly damaging	Het
Olfr1098	A	G	2: 86,922,969	S188P	probably damaging	Het
Olfr554	T	A	7: 102,640,471	L75Q	probably damaging	Het
Pkm	T	C	9: 59,670,599	V233A	possibly damaging	Het
Pros1	T	A	16: 62,928,177	I671N	possibly damaging	Het
Rasd1	T	C	11: 59,964,292	I121V	probably damaging	Het
Samhd1	A	G	2: 157,116,350		probably null	Het
Slc5a10	T	C	11: 61,673,281	I543V	probably benign	Het
Stat5a	A	G	11: 100,879,303	I469V	possibly damaging	Het
Sugct	T	C	13: 16,857,874	E431G	probably benign	Het
Tecr	C	A	8: 83,573,251	R133L	possibly damaging	Het
Tiparp	A	G	3: 65,531,581	N106S	probably benign	Het
Triml1	T	C	8: 43,141,248	S49G	probably benign	Het
Trpm3	T	A	19: 22,715,276	S244T	possibly damaging	Het
Ttn	T	C	2: 76,722,980	D31055G	probably damaging	Het
Vcp	A	T	4: 42,985,242	I369N	probably damaging	Het
Vmn2r110	A	C	17: 20,584,429	N76K	probably benign	Het
Vmn2r12	T	C	5: 109,086,208	T713A	probably benign	Het
Vmn2r17	A	T	5: 109,453,369	K844N	probably benign	Het

Other mutations in Serpinb9f

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02113:Serpinb9f	APN	13	33334468	missense	probably damaging	1.00
IGL03272:Serpinb9f	APN	13	33327916	missense	probably damaging	1.00
R0112:Serpinb9f	UTSW	13	33327951	splice site	probably benign
R0254:Serpinb9f	UTSW	13	33334591	missense	probably damaging	1.00
R0498:Serpinb9f	UTSW	13	33326007	splice site	probably benign
R0711:Serpinb9f	UTSW	13	33327921	missense	probably damaging	1.00
R1004:Serpinb9f	UTSW	13	33334242	critical splice acceptor site	probably benign
R1913:Serpinb9f	UTSW	13	33325846	missense	probably damaging	1.00
R2214:Serpinb9f	UTSW	13	33334609	missense	probably benign	0.00
R3908:Serpinb9f	UTSW	13	33327936	missense	probably damaging	0.99
R6182:Serpinb9f	UTSW	13	33334422	missense	probably damaging	1.00
R6421:Serpinb9f	UTSW	13	33334533	missense	probably benign	0.01
R6965:Serpinb9f	UTSW	13	33325876	missense	possibly damaging	0.50
R7043:Serpinb9f	UTSW	13	33325987	missense	possibly damaging	0.85
R7406:Serpinb9f	UTSW	13	33334560	nonsense	probably null
R8182:Serpinb9f	UTSW	13	33334620	missense	probably benign	0.03
R8341:Serpinb9f	UTSW	13	33327307	nonsense	probably null
R8492:Serpinb9f	UTSW	13	33334604	missense	probably damaging	1.00
R8794:Serpinb9f	UTSW	13	33329413	missense	probably benign	0.15
R9433:Serpinb9f	UTSW	13	33334255	missense	probably benign	0.00
R9508:Serpinb9f	UTSW	13	33334532	missense	probably benign
X0019:Serpinb9f	UTSW	13	33334534	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- AGAGTTCCGTATTTCCCTTCATCAG -3'
(R):5'- CCAGCTTCAAAGAGGCTTTTGG -3'

Sequencing Primer
(F):5'- CGTATTTCCCTTCATCAGAACAATG -3'
(R):5'- TAGCACAACCAGGGTCAATTTTAC -3'

Posted On

2020-07-13