Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03189:Serpinb9d'

412553

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Serpinb9d

Ensembl Gene

ENSMUSG00000054266

Gene Name

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

Synonyms

Spi9, AT2, ovalbumin

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

IGL03189

Quality Score

Status

Chromosome

Chromosomal Location

33376942-33387112 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 33386895 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 321 (V321A)

Ref Sequence

ENSEMBL: ENSMUSP00000067710 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067198]

AlphaFold

Q8BMT0

Predicted Effect

probably damaging
Transcript: ENSMUST00000067198
AA Change: V321A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000067710
Gene: ENSMUSG00000054266
AA Change: V321A

Domain	Start	End	E-Value	Type
SERPIN	13	377	1.79e-167	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	A	G	5: 8,895,814 (GRCm39)	T916A	probably benign	Het
Adam22	A	T	5: 8,161,897 (GRCm39)	Y50*	probably null	Het
Adprs	T	C	4: 126,211,087 (GRCm39)		probably benign	Het
Ahnak	G	A	19: 8,988,603 (GRCm39)	V3296M	possibly damaging	Het
Bfar	A	G	16: 13,505,365 (GRCm39)	D125G	possibly damaging	Het
Bmp3	A	T	5: 99,020,579 (GRCm39)	Q334L	probably benign	Het
Camsap2	A	T	1: 136,209,400 (GRCm39)	D697E	probably damaging	Het
Car11	A	G	7: 45,351,879 (GRCm39)	T103A	probably damaging	Het
Cecr2	T	A	6: 120,739,391 (GRCm39)	S1373T	probably benign	Het
Cenpm	A	G	15: 82,118,634 (GRCm39)	V160A	possibly damaging	Het
Chl1	A	T	6: 103,660,168 (GRCm39)	I365F	possibly damaging	Het
Col20a1	C	T	2: 180,651,200 (GRCm39)	Q1089*	probably null	Het
Csf1r	A	T	18: 61,239,058 (GRCm39)	T13S	probably benign	Het
Fam13a	T	C	6: 58,933,843 (GRCm39)	E249G	probably damaging	Het
Fgd6	G	A	10: 93,880,318 (GRCm39)	V391I	probably benign	Het
Fhdc1	G	A	3: 84,362,368 (GRCm39)		probably benign	Het
Fn3krp	T	C	11: 121,320,456 (GRCm39)	I267T	probably damaging	Het
Fras1	A	T	5: 96,890,930 (GRCm39)	I2820F	probably benign	Het
Fyb2	A	G	4: 104,872,939 (GRCm39)	I771V	probably damaging	Het
Gata3os	A	G	2: 9,888,634 (GRCm39)		probably benign	Het
Glis1	A	G	4: 107,472,248 (GRCm39)	Y275C	probably damaging	Het
Hdgf	A	G	3: 87,820,735 (GRCm39)	T62A	possibly damaging	Het
Hsd17b3	C	T	13: 64,210,901 (GRCm39)		probably null	Het
Ift56	C	T	6: 38,402,166 (GRCm39)	P553S	probably benign	Het
Iqgap1	T	A	7: 80,363,590 (GRCm39)	Y1655F	probably benign	Het
Izumo1	A	G	7: 45,274,588 (GRCm39)	D181G	probably damaging	Het
Lrp2	T	C	2: 69,268,822 (GRCm39)		probably benign	Het
Mark1	T	C	1: 184,651,890 (GRCm39)	N95S	probably damaging	Het
Mbd5	A	G	2: 49,147,763 (GRCm39)	K658E	probably damaging	Het
Mcm6	C	T	1: 128,272,039 (GRCm39)	D453N	probably damaging	Het
Mfsd14a	T	C	3: 116,435,504 (GRCm39)	D187G	probably benign	Het
Mrpl19	G	T	6: 81,938,974 (GRCm39)	S276*	probably null	Het
Ncoa2	G	A	1: 13,260,360 (GRCm39)	T105M	probably damaging	Het
Nop14	A	G	5: 34,807,972 (GRCm39)		probably benign	Het
Or2ah1	A	G	2: 85,653,902 (GRCm39)	T196A	probably benign	Het
Or2aj5	T	C	16: 19,425,341 (GRCm39)	T26A	probably benign	Het
Or5w19	G	A	2: 87,698,559 (GRCm39)	A75T	possibly damaging	Het
Otud7b	G	A	3: 96,062,795 (GRCm39)	S678N	probably benign	Het
Pcdhb6	G	A	18: 37,469,205 (GRCm39)	V25M	probably damaging	Het
Prpf39	G	T	12: 65,090,076 (GRCm39)	G5*	probably null	Het
Sh2b1	A	G	7: 126,067,702 (GRCm39)	S613P	possibly damaging	Het
Snx30	T	C	4: 59,857,452 (GRCm39)	I55T	probably benign	Het
Spata13	T	C	14: 60,929,063 (GRCm39)	I207T	possibly damaging	Het
Suco	T	C	1: 161,684,906 (GRCm39)		probably benign	Het
Svs5	A	G	2: 164,079,032 (GRCm39)	S292P	possibly damaging	Het
Tcam1	A	G	11: 106,176,212 (GRCm39)	I313V	probably benign	Het
Tmem45a	A	T	16: 56,631,936 (GRCm39)	Y227*	probably null	Het
Tnfsf15	A	G	4: 63,648,289 (GRCm39)		probably benign	Het
Vmn2r4	C	A	3: 64,296,589 (GRCm39)	R732L	possibly damaging	Het
Wdr7	C	T	18: 63,893,672 (GRCm39)	T602I	probably benign	Het

Other mutations in Serpinb9d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01516:Serpinb9d	APN	13	33,386,654 (GRCm39)	splice site	probably null
IGL01610:Serpinb9d	APN	13	33,381,985 (GRCm39)	missense	probably benign	0.12
IGL01702:Serpinb9d	APN	13	33,387,006 (GRCm39)	missense	probably damaging	1.00
IGL01833:Serpinb9d	APN	13	33,384,688 (GRCm39)	missense	probably damaging	1.00
IGL02029:Serpinb9d	APN	13	33,380,512 (GRCm39)	missense	possibly damaging	0.74
IGL03013:Serpinb9d	APN	13	33,380,521 (GRCm39)	missense	probably damaging	1.00
IGL03027:Serpinb9d	APN	13	33,386,698 (GRCm39)	nonsense	probably null
IGL03056:Serpinb9d	APN	13	33,386,736 (GRCm39)	missense	probably damaging	1.00
IGL03206:Serpinb9d	APN	13	33,382,014 (GRCm39)	missense	possibly damaging	0.61
R0217:Serpinb9d	UTSW	13	33,382,005 (GRCm39)	missense	possibly damaging	0.79
R0370:Serpinb9d	UTSW	13	33,379,949 (GRCm39)	missense	probably damaging	1.00
R1174:Serpinb9d	UTSW	13	33,384,608 (GRCm39)	missense	probably benign	0.23
R1175:Serpinb9d	UTSW	13	33,384,608 (GRCm39)	missense	probably benign	0.23
R1711:Serpinb9d	UTSW	13	33,384,731 (GRCm39)	missense	probably benign	0.03
R1716:Serpinb9d	UTSW	13	33,380,500 (GRCm39)	missense	probably damaging	1.00
R1874:Serpinb9d	UTSW	13	33,381,946 (GRCm39)	splice site	probably null
R2186:Serpinb9d	UTSW	13	33,387,030 (GRCm39)	missense	possibly damaging	0.82
R2497:Serpinb9d	UTSW	13	33,380,500 (GRCm39)	missense	probably damaging	1.00
R4198:Serpinb9d	UTSW	13	33,386,948 (GRCm39)	missense	probably benign	0.01
R4198:Serpinb9d	UTSW	13	33,386,657 (GRCm39)	splice site	probably null
R4199:Serpinb9d	UTSW	13	33,386,657 (GRCm39)	splice site	probably null
R4584:Serpinb9d	UTSW	13	33,384,599 (GRCm39)	missense	probably damaging	1.00
R4650:Serpinb9d	UTSW	13	33,386,836 (GRCm39)	missense	probably benign	0.00
R5573:Serpinb9d	UTSW	13	33,380,423 (GRCm39)	critical splice acceptor site	probably null
R5627:Serpinb9d	UTSW	13	33,386,676 (GRCm39)	missense	probably damaging	1.00
R6336:Serpinb9d	UTSW	13	33,378,677 (GRCm39)	missense	probably damaging	1.00
R6706:Serpinb9d	UTSW	13	33,380,541 (GRCm39)	missense	probably benign
R6948:Serpinb9d	UTSW	13	33,384,706 (GRCm39)	missense	possibly damaging	0.95
R7271:Serpinb9d	UTSW	13	33,378,617 (GRCm39)	missense	probably benign	0.43
R7336:Serpinb9d	UTSW	13	33,384,702 (GRCm39)	missense	probably benign	0.00
R7436:Serpinb9d	UTSW	13	33,379,916 (GRCm39)	missense	probably benign	0.35
R7675:Serpinb9d	UTSW	13	33,386,759 (GRCm39)	nonsense	probably null
R7874:Serpinb9d	UTSW	13	33,386,654 (GRCm39)	splice site	probably null
R9188:Serpinb9d	UTSW	13	33,386,843 (GRCm39)	missense	probably damaging	0.99
R9775:Serpinb9d	UTSW	13	33,382,007 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02