Mutagenetix > Incidental Mutation

Incidental Mutation 'R4060:Serpinb9g'

315830

Institutional Source

Beutler Lab

Gene Symbol

Serpinb9g

Ensembl Gene

ENSMUSG00000057726

Gene Name

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

Synonyms

ovalbumin, NK21B, 1600002F03Rik

MMRRC Submission

041618-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.221) question?

Stock #

R4060 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33668773-33679985 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 33679089 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 320 (V320I)

Ref Sequence

ENSEMBL: ENSMUSP00000080597 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081927]

AlphaFold

Q8VHQ1

Predicted Effect

probably benign
Transcript: ENSMUST00000081927
AA Change: V320I

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000080597
Gene: ENSMUSG00000057726
AA Change: V320I

Domain	Start	End	E-Value	Type
SERPIN	13	377	2.87e-166	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.7%

Validation Efficiency

95% (41/43)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	A	T	1: 53,197,928 (GRCm39)	L140Q	probably damaging	Het
Abca8b	A	T	11: 109,848,027 (GRCm39)	M756K	probably benign	Het
Cd44	T	C	2: 102,731,687 (GRCm39)	D2G	probably damaging	Het
Cdan1	T	C	2: 120,556,224 (GRCm39)	I681V	probably benign	Het
Cdc5l	C	T	17: 45,721,816 (GRCm39)	A485T	probably benign	Het
Cfh	T	C	1: 140,047,664 (GRCm39)	I488M	possibly damaging	Het
Cntn2	T	A	1: 132,453,634 (GRCm39)	L346F	probably damaging	Het
Creb3l2	T	C	6: 37,311,484 (GRCm39)	H435R	probably benign	Het
Dmbt1	A	G	7: 130,675,932 (GRCm39)		probably benign	Het
Fam162a	C	T	16: 35,864,451 (GRCm39)	R38K	probably benign	Het
Fat1	A	T	8: 45,478,518 (GRCm39)	E2521D	probably benign	Het
Foxo1	A	G	3: 52,252,583 (GRCm39)	R249G	probably damaging	Het
Grm6	A	G	11: 50,744,051 (GRCm39)	E174G	probably damaging	Het
Gtpbp2	G	A	17: 46,478,253 (GRCm39)	R467H	probably damaging	Het
Hypk	A	G	2: 121,284,160 (GRCm39)		probably benign	Het
Ifih1	T	C	2: 62,429,143 (GRCm39)	T932A	possibly damaging	Het
Igfbp1	C	A	11: 7,148,091 (GRCm39)	P45T	probably damaging	Het
Ik	A	G	18: 36,881,943 (GRCm39)	K142E	probably damaging	Het
Ltbp3	T	C	19: 5,792,348 (GRCm39)	L27P	probably benign	Het
Mast3	A	G	8: 71,233,838 (GRCm39)	V969A	probably damaging	Het
Mrps24	G	A	11: 5,654,676 (GRCm39)	R93*	probably null	Het
Or13a20	T	C	7: 140,232,033 (GRCm39)	I47T	probably damaging	Het
Or1j14	A	G	2: 36,417,426 (GRCm39)	M1V	probably null	Het
Or7g19	T	C	9: 18,856,346 (GRCm39)	V134A	probably benign	Het
Otop2	G	A	11: 115,220,201 (GRCm39)	G347D	probably damaging	Het
Pcdhb20	A	G	18: 37,639,217 (GRCm39)	E581G	probably damaging	Het
Rnf146	T	C	10: 29,223,363 (GRCm39)	I174M	probably damaging	Het
Sh3pxd2b	G	T	11: 32,372,263 (GRCm39)	A477S	probably benign	Het
Slc23a3	T	G	1: 75,109,964 (GRCm39)		probably benign	Het
Ssrp1	T	G	2: 84,871,978 (GRCm39)	Y401D	probably damaging	Het
Tas2r109	A	T	6: 132,957,148 (GRCm39)	W261R	probably damaging	Het
Tas2r144	T	C	6: 42,192,563 (GRCm39)	V101A	possibly damaging	Het
Tead1	T	A	7: 112,475,269 (GRCm39)		probably null	Het
Tiam2	A	G	17: 3,479,255 (GRCm39)	S663G	probably benign	Het
Trbv20	T	G	6: 41,165,195 (GRCm39)		probably benign	Het
Tspan9	T	C	6: 128,011,135 (GRCm39)	I19M	probably benign	Het
Ttbk2	T	A	2: 120,579,465 (GRCm39)	E552D	probably benign	Het
Zfp292	A	G	4: 34,810,863 (GRCm39)	V727A	probably damaging	Het

Other mutations in Serpinb9g

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01655:Serpinb9g	APN	13	33,679,088 (GRCm39)	nonsense	probably null
IGL02346:Serpinb9g	APN	13	33,670,514 (GRCm39)	start codon destroyed	probably benign	0.12
IGL02665:Serpinb9g	APN	13	33,679,086 (GRCm39)	missense	possibly damaging	0.54
IGL02936:Serpinb9g	APN	13	33,678,865 (GRCm39)	missense	possibly damaging	0.94
R1611:Serpinb9g	UTSW	13	33,676,857 (GRCm39)	missense	possibly damaging	0.46
R3873:Serpinb9g	UTSW	13	33,670,518 (GRCm39)	missense	probably benign	0.45
R4505:Serpinb9g	UTSW	13	33,670,546 (GRCm39)	missense	probably damaging	1.00
R6399:Serpinb9g	UTSW	13	33,676,834 (GRCm39)	missense	probably benign
R6843:Serpinb9g	UTSW	13	33,676,900 (GRCm39)	missense	probably damaging	1.00
R6844:Serpinb9g	UTSW	13	33,670,616 (GRCm39)	missense	probably damaging	0.99
R6942:Serpinb9g	UTSW	13	33,678,888 (GRCm39)	missense	probably benign	0.03
R7319:Serpinb9g	UTSW	13	33,672,543 (GRCm39)	nonsense	probably null
R7466:Serpinb9g	UTSW	13	33,679,150 (GRCm39)	missense	probably benign
R7470:Serpinb9g	UTSW	13	33,670,617 (GRCm39)	missense	probably damaging	1.00
R8350:Serpinb9g	UTSW	13	33,676,854 (GRCm39)	missense	probably damaging	1.00
R8531:Serpinb9g	UTSW	13	33,676,896 (GRCm39)	missense	possibly damaging	0.46
R8555:Serpinb9g	UTSW	13	33,676,796 (GRCm39)	missense	probably benign	0.02
R8743:Serpinb9g	UTSW	13	33,678,931 (GRCm39)	missense	probably benign
R8918:Serpinb9g	UTSW	13	33,679,131 (GRCm39)	missense	probably benign	0.00
R9542:Serpinb9g	UTSW	13	33,679,141 (GRCm39)	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- ATGAATCGCACTGAGTTTCATG -3'
(R):5'- CTTGTCCATCCTCACAGAGC -3'

Sequencing Primer
(F):5'- GAATCGCACTGAGTTTCATGTTTATC -3'
(R):5'- TCCTCACAGAGCAATAAGGCTGG -3'

Posted On

2015-05-15