Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03206:Serpinb9d'

413138

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: 0.066) question?

Stock #

IGL03206

Quality Score

Status

Chromosome

Chromosomal Location

33376942-33387112 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 33382014 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 161 (I161T)

Ref Sequence

ENSEMBL: ENSMUSP00000067710 (fasta)

Gene Model

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

AlphaFold

Q8BMT0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067198
AA Change: I161T

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000067710
Gene: ENSMUSG00000054266
AA Change: I161T

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,530,239 (GRCm39)	E939D	possibly damaging	Het
Aloxe3	C	A	11: 69,020,472 (GRCm39)	A172D	possibly damaging	Het
Bscl2	G	A	19: 8,820,453 (GRCm39)	R158Q	probably damaging	Het
Cdon	A	G	9: 35,414,602 (GRCm39)	D1159G	probably benign	Het
Cep164	A	G	9: 45,714,023 (GRCm39)	V203A	probably benign	Het
Chml	T	C	1: 175,515,303 (GRCm39)	D206G	probably benign	Het
E2f6	T	C	12: 16,872,090 (GRCm39)		probably benign	Het
Emilin3	T	A	2: 160,752,719 (GRCm39)	Y77F	probably damaging	Het
Fbxw15	A	T	9: 109,394,430 (GRCm39)	N128K	possibly damaging	Het
Gjd2	A	G	2: 113,842,204 (GRCm39)	L91P	probably damaging	Het
Gm12830	T	A	4: 114,702,314 (GRCm39)		probably benign	Het
Gpr161	T	A	1: 165,149,218 (GRCm39)	L529Q	probably damaging	Het
Hoxd10	T	A	2: 74,522,776 (GRCm39)	Y151*	probably null	Het
Iars1	A	G	13: 49,846,546 (GRCm39)	D215G	possibly damaging	Het
Ift140	T	C	17: 25,311,800 (GRCm39)	V1241A	probably damaging	Het
Kdm5b	A	G	1: 134,555,055 (GRCm39)	N1321S	probably benign	Het
Lrat	T	A	3: 82,810,656 (GRCm39)	I122F	probably damaging	Het
Myl10	C	T	5: 136,726,796 (GRCm39)	Q106*	probably null	Het
Ncapd2	A	T	6: 125,148,660 (GRCm39)	Y1018N	possibly damaging	Het
Ndrg1	C	T	15: 66,814,936 (GRCm39)	W172*	probably null	Het
Nphs2	T	C	1: 156,153,701 (GRCm39)	M264T	probably damaging	Het
Nrxn3	A	T	12: 89,227,278 (GRCm39)	R677S	possibly damaging	Het
Nudt12	T	C	17: 59,314,667 (GRCm39)	T306A	probably benign	Het
Numb	A	G	12: 83,872,070 (GRCm39)		probably benign	Het
Or10h28	T	A	17: 33,487,725 (GRCm39)	I9K	possibly damaging	Het
Or2y1	A	T	11: 49,385,536 (GRCm39)	M59L	probably benign	Het
Or5p58	C	T	7: 107,694,261 (GRCm39)	C172Y	probably damaging	Het
Pbld2	T	A	10: 62,883,261 (GRCm39)	D94E	probably benign	Het
Pkd1l3	C	A	8: 110,350,345 (GRCm39)	Q397K	probably benign	Het
Ppp4r3a	A	T	12: 101,024,878 (GRCm39)	L207H	probably damaging	Het
Ranbp2	T	A	10: 58,301,369 (GRCm39)	I674N	probably damaging	Het
Retnlg	G	T	16: 48,694,655 (GRCm39)	C101F	probably damaging	Het
Rif1	T	A	2: 51,993,634 (GRCm39)	I849N	probably damaging	Het
Slc17a6	T	C	7: 51,315,771 (GRCm39)		probably benign	Het
Smg8	A	C	11: 86,976,814 (GRCm39)		probably null	Het
Spata31d1c	C	A	13: 65,183,407 (GRCm39)	N316K	probably benign	Het
Tlr1	A	G	5: 65,082,400 (GRCm39)	S726P	probably damaging	Het
Trim69	A	C	2: 122,003,636 (GRCm39)	D195A	probably benign	Het
Ttc16	T	G	2: 32,661,897 (GRCm39)		probably null	Het
Usp53	T	A	3: 122,746,832 (GRCm39)	M405L	probably benign	Het
Ywhag	G	A	5: 135,939,914 (GRCm39)	R227*	probably null	Het
Zfp335	G	T	2: 164,734,601 (GRCm39)		probably benign	Het
Zfp607a	T	C	7: 27,577,248 (GRCm39)	I106T	possibly damaging	Het
Zfp959	T	C	17: 56,204,613 (GRCm39)	S214P	possibly damaging	Het
Zfyve9	T	C	4: 108,546,406 (GRCm39)	M868V	possibly damaging	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
IGL03189:Serpinb9d	APN	13	33,386,895 (GRCm39)	missense	probably damaging	1.00
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