Mutagenetix > Incidental Mutation

Incidental Mutation 'R7988:Serpinb9c'

651613

Institutional Source

Beutler Lab

Gene Symbol

Serpinb9c

Ensembl Gene

ENSMUSG00000021404

Gene Name

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

Synonyms

NK9, Spi11, ovalbumin, 3830421J05Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7988 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33149275-33159742 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 33150279 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 288 (Y288F)

Ref Sequence

ENSEMBL: ENSMUSP00000021837 (fasta)

Gene Model

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

AlphaFold

I7HJI5

Predicted Effect

probably benign
Transcript: ENSMUST00000021837
AA Change: Y288F

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000021837
Gene: ENSMUSG00000021404
AA Change: Y288F

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

Predicted Effect

probably benign
Transcript: ENSMUST00000110284
AA Change: Y260F

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000105913
Gene: ENSMUSG00000021404
AA Change: Y260F

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	C	T	6: 72,347,652	T56M	probably damaging	Het
2010111I01Rik	A	G	13: 63,061,140	D357G	probably benign	Het
4932415D10Rik	T	C	10: 82,296,100	I359V	probably benign	Het
Adamtsl5	C	T	10: 80,345,538	S36N	probably benign	Het
Adgrf5	A	T	17: 43,439,813		probably benign	Het
Ago1	A	G	4: 126,460,417	F200S	probably damaging	Het
Akr1cl	T	C	1: 65,024,706	D108G	possibly damaging	Het
Arhgef3	A	T	14: 27,401,786	D468V	probably benign	Het
Aspn	T	C	13: 49,551,877	C72R	possibly damaging	Het
Baz2b	T	C	2: 59,962,141	T548A	possibly damaging	Het
Birc6	G	A	17: 74,599,373		probably null	Het
Btnl2	A	T	17: 34,358,275	T135S	possibly damaging	Het
Ccnl1	T	A	3: 65,957,861	I90F	possibly damaging	Het
Ccnt1	T	C	15: 98,565,143		probably null	Het
Cemip	C	A	7: 84,003,408		probably benign	Het
Cfap45	A	G	1: 172,529,934	D85G	probably damaging	Het
Cfap54	T	A	10: 92,902,079	D2319V	unknown	Het
Cma1	T	C	14: 55,944,532	M14V	possibly damaging	Het
Cmtm1	T	C	8: 104,310,142		probably benign	Het
Col27a1	A	G	4: 63,331,322	H1738R	unknown	Het
Colq	T	A	14: 31,553,837	D41V	probably damaging	Het
Cubn	T	C	2: 13,332,355	T2437A	probably benign	Het
Dnah14	A	G	1: 181,783,574	D3755G	probably damaging	Het
Eprs	A	G	1: 185,418,348	Y1349C	probably damaging	Het
Eps8	C	T	6: 137,528,571	R53Q	possibly damaging	Het
Fam196a	T	G	7: 134,917,698	K368Q	probably damaging	Het
Fbf1	T	C	11: 116,152,768	D405G	probably benign	Het
Fen1	C	T	19: 10,200,310	E257K	possibly damaging	Het
Gstm7	A	T	3: 107,926,955	M198K	possibly damaging	Het
Hook3	A	T	8: 26,073,647	S190T	probably benign	Het
Htra4	A	C	8: 25,030,510		probably null	Het
Ighv1-15	T	C	12: 114,657,496	I70V	probably benign	Het
Ikzf4	T	A	10: 128,634,455	N452Y	probably damaging	Het
Iqcf5	T	A	9: 106,515,821	N92K	possibly damaging	Het
Itk	A	G	11: 46,355,834	Y186H	probably damaging	Het
Klhdc10	T	C	6: 30,446,691	S282P	probably benign	Het
Klhl18	T	A	9: 110,476,509	E29V	possibly damaging	Het
Ky	T	C	9: 102,525,415	S140P	probably damaging	Het
Lmntd2	T	C	7: 141,213,637	E112G	unknown	Het
Lrrc36	C	A	8: 105,452,086	D304E	possibly damaging	Het
Macf1	A	T	4: 123,506,480	F674Y	probably damaging	Het
Notch1	C	T	2: 26,471,001	D1111N	probably benign	Het
Osbpl8	T	G	10: 111,272,080	N312K	possibly damaging	Het
Otogl	C	T	10: 107,895,776	C168Y	probably damaging	Het
Phldb2	T	G	16: 45,825,571	T171P	probably benign	Het
Ppef2	A	T	5: 92,238,982	F365L	probably benign	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Ryr1	G	A	7: 29,096,171	T1105I	probably benign	Het
Sclt1	T	A	3: 41,663,454	*29L	probably null	Het
Scn11a	T	C	9: 119,765,437	K1297E	probably damaging	Het
Setd1a	T	A	7: 127,786,194	M691K	probably benign	Het
Sftpc	T	C	14: 70,522,619	E66G	probably damaging	Het
Thnsl2	T	C	6: 71,141,319	T42A	probably benign	Het
Tram1	T	C	1: 13,569,975	D285G	probably benign	Het
Ttn	A	T	2: 76,736,240	I28103K	probably damaging	Het
Ttn	G	A	2: 76,845,030	P11137L	unknown	Het
Ttn	C	A	2: 76,896,759	V5821F	unknown	Het
Usp38	T	A	8: 81,014,316	M41L	probably benign	Het
Zcwpw1	T	G	5: 137,817,491	Y419D	possibly damaging	Het
Zfp407	G	A	18: 84,559,400	A1196V	possibly damaging	Het
Zfp446	T	A	7: 12,979,043	S103T	possibly damaging	Het

Other mutations in Serpinb9c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00791:Serpinb9c	APN	13	33151884	missense	probably damaging	0.98
IGL01357:Serpinb9c	APN	13	33151879	missense	probably benign	0.02
IGL01413:Serpinb9c	APN	13	33151804	missense	probably damaging	0.99
R1411:Serpinb9c	UTSW	13	33151834	missense	probably benign	0.02
R1926:Serpinb9c	UTSW	13	33150235	missense	probably benign	0.00
R2057:Serpinb9c	UTSW	13	33156871	nonsense	probably null
R2058:Serpinb9c	UTSW	13	33156871	nonsense	probably null
R2059:Serpinb9c	UTSW	13	33156871	nonsense	probably null
R2272:Serpinb9c	UTSW	13	33154541	missense	probably damaging	1.00
R3948:Serpinb9c	UTSW	13	33150094	missense	probably benign
R4520:Serpinb9c	UTSW	13	33151857	splice site	probably null
R4558:Serpinb9c	UTSW	13	33154499	missense	probably benign	0.12
R4735:Serpinb9c	UTSW	13	33150271	missense	probably benign	0.13
R5004:Serpinb9c	UTSW	13	33150355	missense	probably benign	0.00
R5009:Serpinb9c	UTSW	13	33154431	missense	probably benign	0.18
R6345:Serpinb9c	UTSW	13	33149995	missense	probably damaging	1.00
R6801:Serpinb9c	UTSW	13	33157824	start codon destroyed	probably benign	0.00
R6886:Serpinb9c	UTSW	13	33150327	missense	probably benign	0.04
R7082:Serpinb9c	UTSW	13	33154407	missense	probably benign	0.40
R7288:Serpinb9c	UTSW	13	33151900	missense	possibly damaging	0.66
R8309:Serpinb9c	UTSW	13	33150111	missense	possibly damaging	0.70
R8465:Serpinb9c	UTSW	13	33150033	missense	probably damaging	1.00
R8543:Serpinb9c	UTSW	13	33156434	missense	probably damaging	1.00
R8750:Serpinb9c	UTSW	13	33151810	missense	probably null	0.93
R9002:Serpinb9c	UTSW	13	33150346	missense	probably damaging	0.99
R9412:Serpinb9c	UTSW	13	33150248	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTGGCCATCATGAGTTTCAGC -3'
(R):5'- ATGCTGTGAACAGGGAGTACC -3'

Sequencing Primer
(F):5'- ACAGTATCATCAGCTGTGGC -3'
(R):5'- CCTATGTGGCTCTGAATAAGACC -3'

Posted On

2020-09-15