Mutagenetix > Incidental Mutation

Incidental Mutation 'R6801:Serpinb9c'

533352

Institutional Source

Beutler Lab

Gene Symbol

Serpinb9c

Ensembl Gene

ENSMUSG00000021404

Gene Name

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

Synonyms

3830421J05Rik, Spi11, NK9, ovalbumin

MMRRC Submission

044914-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6801 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33333258-33343725 bp(-) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to A at 33341807 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 1 (M1L)

Ref Sequence

ENSEMBL: ENSMUSP00000116267 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021837] [ENSMUST00000110284] [ENSMUST00000135897]

AlphaFold

I7HJI5

Predicted Effect

probably benign
Transcript: ENSMUST00000021837
AA Change: M29L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000021837
Gene: ENSMUSG00000021404
AA Change: M29L

Domain	Start	End	E-Value	Type
SERPIN	24	387	2.85e-152	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110284
AA Change: M1L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000105913
Gene: ENSMUSG00000021404
AA Change: M1L

Domain	Start	End	E-Value	Type
SERPIN	1	359	1.21e-146	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000135897
AA Change: M1L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000116267
Gene: ENSMUSG00000021404
AA Change: M1L

Domain	Start	End	E-Value	Type
Pfam:Serpin	1	88	7.2e-20	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.8%

Validation Efficiency

100% (49/49)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam3	T	A	8: 25,174,680 (GRCm39)	Y695F	possibly damaging	Het
Arhgap20	A	G	9: 51,759,892 (GRCm39)	D545G	probably damaging	Het
Arhgef11	A	G	3: 87,643,159 (GRCm39)	E1457G	possibly damaging	Het
Atp2b4	T	A	1: 133,655,524 (GRCm39)	I747F	probably damaging	Het
Bche	T	A	3: 73,609,133 (GRCm39)	I98L	probably benign	Het
C2cd6	TC	T	1: 59,133,742 (GRCm39)		probably null	Het
Ccdc90b	A	G	7: 92,216,943 (GRCm39)	T72A	probably benign	Het
Chrd	A	G	16: 20,554,497 (GRCm39)	E352G	possibly damaging	Het
Csmd2	A	G	4: 128,277,743 (GRCm39)	E953G	probably benign	Het
Dchs2	T	A	3: 83,035,841 (GRCm39)	M196K	probably benign	Het
Ddx10	G	A	9: 53,159,207 (GRCm39)	Q33*	probably null	Het
Dennd4b	T	A	3: 90,176,086 (GRCm39)	V201E	probably damaging	Het
Fbn2	T	A	18: 58,246,420 (GRCm39)	H494L	probably benign	Het
Fbxw13	G	A	9: 109,023,795 (GRCm39)	A83V	probably null	Het
Fxr1	A	G	3: 34,108,452 (GRCm39)	D321G	possibly damaging	Het
Galm	A	G	17: 80,489,053 (GRCm39)	H233R	probably benign	Het
Gm7298	A	G	6: 121,752,768 (GRCm39)	T837A	probably benign	Het
Gmppa	C	G	1: 75,418,391 (GRCm39)	S258C	possibly damaging	Het
Hk1	T	G	10: 62,116,910 (GRCm39)	E645A	probably damaging	Het
Igkv1-132	A	G	6: 67,737,324 (GRCm39)	T97A	probably damaging	Het
Kcnc1	T	C	7: 46,084,716 (GRCm39)	F547L	probably damaging	Het
Lama5	G	A	2: 179,833,455 (GRCm39)	P1519L	probably damaging	Het
Lingo2	T	A	4: 35,709,566 (GRCm39)	E138V	probably damaging	Het
Myb	T	C	10: 21,020,865 (GRCm39)		probably null	Het
Mybl1	A	G	1: 9,753,353 (GRCm39)	V243A	probably benign	Het
Mylk4	C	T	13: 32,912,393 (GRCm39)	S189N	probably benign	Het
Or13c7	T	A	4: 43,855,206 (GRCm39)	L299*	probably null	Het
Or2y16	A	G	11: 49,335,169 (GRCm39)	M164V	probably benign	Het
Or4k77	A	T	2: 111,199,394 (GRCm39)	Q139L	probably benign	Het
Or4x12-ps1	A	T	2: 89,915,953 (GRCm39)	I284N	probably damaging	Het
Or5w1b	A	G	2: 87,475,667 (GRCm39)	Y267H	probably benign	Het
Or8g19	A	T	9: 39,055,506 (GRCm39)	I37F	probably benign	Het
Oxld1	A	T	11: 120,347,650 (GRCm39)	D182E	probably damaging	Het
Phf13	A	T	4: 152,076,017 (GRCm39)	L295Q	probably damaging	Het
Prrc2c	TTGCTGCTGCTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGCTGCTGCTGC	1: 162,536,630 (GRCm39)		probably benign	Het
Prss33	A	G	17: 24,053,813 (GRCm39)	L88P	possibly damaging	Het
Ralgds	A	G	2: 28,438,448 (GRCm39)	Y596C	probably damaging	Het
Rftn2	A	G	1: 55,233,418 (GRCm39)	I379T	possibly damaging	Het
Rnf214	C	T	9: 45,807,403 (GRCm39)	E267K	probably damaging	Het
Rpp14	T	C	14: 8,083,717 (GRCm38)		probably benign	Het
Rpusd2	A	G	2: 118,865,876 (GRCm39)	Y191C	probably damaging	Het
Shroom3	A	G	5: 93,088,795 (GRCm39)	D434G	probably damaging	Het
Smc5	G	A	19: 23,192,010 (GRCm39)	S888L	probably benign	Het
Suv39h2	C	T	2: 3,465,458 (GRCm39)	R299K	probably benign	Het
Trappc4	A	T	9: 44,315,685 (GRCm39)	I176N	probably damaging	Het
Trim12c	A	T	7: 103,997,337 (GRCm39)	V73E	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het

Other mutations in Serpinb9c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00791:Serpinb9c	APN	13	33,335,867 (GRCm39)	missense	probably damaging	0.98
IGL01357:Serpinb9c	APN	13	33,335,862 (GRCm39)	missense	probably benign	0.02
IGL01413:Serpinb9c	APN	13	33,335,787 (GRCm39)	missense	probably damaging	0.99
R1411:Serpinb9c	UTSW	13	33,335,817 (GRCm39)	missense	probably benign	0.02
R1926:Serpinb9c	UTSW	13	33,334,218 (GRCm39)	missense	probably benign	0.00
R2057:Serpinb9c	UTSW	13	33,340,854 (GRCm39)	nonsense	probably null
R2058:Serpinb9c	UTSW	13	33,340,854 (GRCm39)	nonsense	probably null
R2059:Serpinb9c	UTSW	13	33,340,854 (GRCm39)	nonsense	probably null
R2272:Serpinb9c	UTSW	13	33,338,524 (GRCm39)	missense	probably damaging	1.00
R3948:Serpinb9c	UTSW	13	33,334,077 (GRCm39)	missense	probably benign
R4520:Serpinb9c	UTSW	13	33,335,840 (GRCm39)	splice site	probably null
R4558:Serpinb9c	UTSW	13	33,338,482 (GRCm39)	missense	probably benign	0.12
R4735:Serpinb9c	UTSW	13	33,334,254 (GRCm39)	missense	probably benign	0.13
R5004:Serpinb9c	UTSW	13	33,334,338 (GRCm39)	missense	probably benign	0.00
R5009:Serpinb9c	UTSW	13	33,338,414 (GRCm39)	missense	probably benign	0.18
R6345:Serpinb9c	UTSW	13	33,333,978 (GRCm39)	missense	probably damaging	1.00
R6886:Serpinb9c	UTSW	13	33,334,310 (GRCm39)	missense	probably benign	0.04
R7082:Serpinb9c	UTSW	13	33,338,390 (GRCm39)	missense	probably benign	0.40
R7288:Serpinb9c	UTSW	13	33,335,883 (GRCm39)	missense	possibly damaging	0.66
R7988:Serpinb9c	UTSW	13	33,334,262 (GRCm39)	missense	probably benign	0.04
R8309:Serpinb9c	UTSW	13	33,334,094 (GRCm39)	missense	possibly damaging	0.70
R8465:Serpinb9c	UTSW	13	33,334,016 (GRCm39)	missense	probably damaging	1.00
R8543:Serpinb9c	UTSW	13	33,340,417 (GRCm39)	missense	probably damaging	1.00
R8750:Serpinb9c	UTSW	13	33,335,793 (GRCm39)	missense	probably null	0.93
R9002:Serpinb9c	UTSW	13	33,334,329 (GRCm39)	missense	probably damaging	0.99
R9412:Serpinb9c	UTSW	13	33,334,231 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAACAGCTCTTATGCATGCG -3'
(R):5'- AGCTTTCCTTCTATATGTGCAGAG -3'

Sequencing Primer
(F):5'- CAGCTCTTATGCATGCGAAATAG -3'
(R):5'- TAGACCACCCTTCCTGAA -3'

Posted On

2018-09-12