Mutagenetix > Incidental Mutations

Incidental Mutation 'R5412:Serpinb9b'

427552

Institutional Source

Beutler Lab

Gene Symbol

Serpinb9b

Ensembl Gene

ENSMUSG00000021403

Gene Name

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

Synonyms

1600019A21Rik, Spi10, ovalbumin, SPI-CI, R86

MMRRC Submission

042981-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5412 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33027416-33041884 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33029513 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 18 (M18V)

Ref Sequence

ENSEMBL: ENSMUSP00000006392 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006392]

Predicted Effect

probably benign
Transcript: ENSMUST00000006392
AA Change: M18V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000006392
Gene: ENSMUSG00000021403
AA Change: M18V

Domain	Start	End	E-Value	Type
SERPIN	13	377	7.86e-164	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220566

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221946

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	T	A	9: 55,978,752	N36Y	probably damaging	Het
Ankfn1	T	A	11: 89,505,181	E246D	probably benign	Het
Arid1a	T	C	4: 133,719,602		probably benign	Het
Bbs7	A	T	3: 36,599,373	D300E	probably benign	Het
BC025446	A	T	15: 75,217,820	E59V	probably damaging	Het
C3	T	C	17: 57,220,187	D754G	probably benign	Het
Ccpg1	A	T	9: 73,010,306	Q240L	probably damaging	Het
Cdk13	G	A	13: 17,766,530	P650S	probably damaging	Het
Celsr2	G	T	3: 108,399,995	S1933Y	probably damaging	Het
Cep135	T	A	5: 76,616,862	H562Q	probably benign	Het
Cyp26a1	G	T	19: 37,701,182	C442F	probably damaging	Het
Dnah7a	T	C	1: 53,635,344	S425G	probably benign	Het
Espn	C	T	4: 152,128,125	V752M	probably damaging	Het
Glyr1	A	G	16: 5,036,433	S113P	possibly damaging	Het
Gm11127	C	T	17: 36,056,044	C369Y	probably benign	Het
Grk4	A	T	5: 34,745,268	Y388F	probably benign	Het
Heca	C	A	10: 17,902,296	V518F	probably damaging	Het
Hmcn2	C	T	2: 31,346,617	P391S	possibly damaging	Het
Hnrnpl	A	G	7: 28,811,104		probably benign	Het
Hsd3b2	A	G	3: 98,711,892	S246P	possibly damaging	Het
Ifna11	C	T	4: 88,820,143	P62L	probably damaging	Het
Katnal2	A	T	18: 77,002,435	V292D	probably damaging	Het
Krt16	T	A	11: 100,246,767	I371F	probably damaging	Het
Map10	A	T	8: 125,670,985	L372F	probably damaging	Het
Megf10	A	T	18: 57,191,147	M87L	probably damaging	Het
Ncoa6	T	C	2: 155,407,781	H1201R	possibly damaging	Het
Ndc80	C	A	17: 71,514,231	D241Y	probably damaging	Het
Ndufs1	T	C	1: 63,166,349	M94V	possibly damaging	Het
Nkx2-6	G	T	14: 69,174,746	R121L	probably damaging	Het
Nos1ap	T	A	1: 170,349,399	K145M	probably damaging	Het
Olfr2	A	G	7: 107,001,635	V75A	probably damaging	Het
Otop1	A	G	5: 38,297,984	I241V	probably benign	Het
Panx2	C	A	15: 89,068,932	P542H	possibly damaging	Het
Pcdha5	C	A	18: 36,962,457	P673Q	probably benign	Het
Pon1	A	G	6: 5,185,314	L62P	probably damaging	Het
Prdx6	A	T	1: 161,244,290	I102N	probably damaging	Het
Prkd3	T	A	17: 78,954,711	I725F	possibly damaging	Het
Selenon	T	C	4: 134,542,438	N395S	probably benign	Het
Serpinb8	G	A	1: 107,605,886	E224K	probably benign	Het
Smc6	A	G	12: 11,285,399	E318G	possibly damaging	Het
Srrt	A	T	5: 137,296,287	Y786N	probably damaging	Het
Stk36	G	T	1: 74,605,456		probably null	Het
Stpg1	T	A	4: 135,525,475	L179Q	possibly damaging	Het
Stra8	G	A	6: 34,930,950	M1I	probably null	Het
Tiam1	G	T	16: 89,884,865	H408Q	possibly damaging	Het
Tm2d1	G	A	4: 98,365,618	T106I	probably damaging	Het
Tmem150b	A	C	7: 4,716,369	I184S	probably null	Het
Vmn1r216	A	G	13: 23,099,911	I255V	probably benign	Het
Vps13b	G	A	15: 35,533,385	A868T	probably damaging	Het
Wdr81	C	T	11: 75,450,794	D1216N	probably null	Het
Zfp26	T	C	9: 20,438,239	Y343C	possibly damaging	Het
Zfp276	A	T	8: 123,255,781	I95F	probably damaging	Het
Zfp330	T	C	8: 82,764,236	E315G	probably benign	Het
Zfp683	C	A	4: 134,054,551	P56Q	probably damaging	Het
Zpld1	T	A	16: 55,232,283	S323C	possibly damaging	Het

Other mutations in Serpinb9b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00157:Serpinb9b	APN	13	33035625	missense	probably benign	0.00
IGL00518:Serpinb9b	APN	13	33039570	missense	probably benign	0.17
IGL01939:Serpinb9b	APN	13	33039665	missense	probably damaging	0.99
IGL02472:Serpinb9b	APN	13	33039970	utr 3 prime	probably benign
IGL02632:Serpinb9b	APN	13	33039823	missense	probably benign	0.01
R0255:Serpinb9b	UTSW	13	33038020	missense	probably benign
R0667:Serpinb9b	UTSW	13	33032926	nonsense	probably null
R0699:Serpinb9b	UTSW	13	33033566	missense	probably benign	0.00
R0703:Serpinb9b	UTSW	13	33032981	missense	probably benign	0.29
R1605:Serpinb9b	UTSW	13	33038129	critical splice donor site	probably null
R1623:Serpinb9b	UTSW	13	33029565	missense	possibly damaging	0.61
R1815:Serpinb9b	UTSW	13	33039904	missense	probably damaging	1.00
R1920:Serpinb9b	UTSW	13	33039548	critical splice acceptor site	probably null
R1987:Serpinb9b	UTSW	13	33029559	missense	probably benign	0.07
R1988:Serpinb9b	UTSW	13	33029559	missense	probably benign	0.07
R3035:Serpinb9b	UTSW	13	33029546	missense	possibly damaging	0.81
R3683:Serpinb9b	UTSW	13	33029598	missense	probably damaging	0.98
R3758:Serpinb9b	UTSW	13	33035588	missense	probably damaging	1.00
R4677:Serpinb9b	UTSW	13	33039823	missense	probably damaging	0.97
R5481:Serpinb9b	UTSW	13	33038093	missense	possibly damaging	0.93
R5672:Serpinb9b	UTSW	13	33039599	missense	probably benign	0.01
R5957:Serpinb9b	UTSW	13	33039848	missense	possibly damaging	0.81
R6797:Serpinb9b	UTSW	13	33029484	missense	possibly damaging	0.60
R7586:Serpinb9b	UTSW	13	33039760	missense	probably damaging	1.00
R8115:Serpinb9b	UTSW	13	33035548	missense	probably null	0.94
R8309:Serpinb9b	UTSW	13	33039571	missense	probably damaging	1.00
R8529:Serpinb9b	UTSW	13	33039560	missense	probably benign	0.04
X0019:Serpinb9b	UTSW	13	33035531	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GAAGGTAGTATGGTCTGCTGCC -3'
(R):5'- ATCAGCAGTTCTTATGCATGTG -3'

Sequencing Primer
(F):5'- TATGGTCTGCTGCCATGGCC -3'
(R):5'- CAGCAGTTCTTATGCATGTGACATG -3'

Posted On

2016-09-01