Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03027:Serpinb9d'

408202

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 #

IGL03027

Quality Score

Status

Chromosome

Chromosomal Location

33376942-33387112 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 33386698 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 255 (W255*)

Ref Sequence

ENSEMBL: ENSMUSP00000067710 (fasta)

Gene Model

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

AlphaFold

Q8BMT0

Predicted Effect

probably null
Transcript: ENSMUST00000067198
AA Change: W255*

SMART Domains

Protein: ENSMUSP00000067710
Gene: ENSMUSG00000054266
AA Change: W255*

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf1	A	T	17: 43,607,605 (GRCm39)	Y108F	probably damaging	Het
Afap1	T	C	5: 36,119,094 (GRCm39)	I243T	probably benign	Het
Ano5	A	G	7: 51,216,025 (GRCm39)	D320G	probably damaging	Het
Arhgef1	T	A	7: 24,623,157 (GRCm39)	I423K	probably damaging	Het
Casp9	A	G	4: 141,539,584 (GRCm39)	E410G	probably benign	Het
Ccdc39	A	C	3: 33,884,267 (GRCm39)	H358Q	probably benign	Het
Ces5a	A	T	8: 94,249,742 (GRCm39)		probably null	Het
Clip1	A	T	5: 123,759,919 (GRCm39)	M935K	probably benign	Het
Col12a1	A	G	9: 79,548,833 (GRCm39)	Y2171H	probably benign	Het
Cyp2f2	A	T	7: 26,831,996 (GRCm39)	N417I	possibly damaging	Het
Dock3	G	A	9: 106,870,677 (GRCm39)	P579L	probably damaging	Het
Dock7	T	C	4: 98,866,164 (GRCm39)	M1209V	probably benign	Het
Dock7	T	C	4: 98,958,450 (GRCm39)	T334A	possibly damaging	Het
Dst	A	T	1: 34,225,106 (GRCm39)	I1171F	possibly damaging	Het
Eya1	G	T	1: 14,241,190 (GRCm39)	H576N	probably damaging	Het
Fam117a	A	G	11: 95,268,399 (GRCm39)	T267A	probably benign	Het
Fam43a	C	T	16: 30,419,922 (GRCm39)	R169C	probably damaging	Het
Gabra6	T	C	11: 42,205,980 (GRCm39)	H291R	probably damaging	Het
Gm7145	T	C	1: 117,895,417 (GRCm39)	S27P	probably benign	Het
Gpt	C	T	15: 76,582,289 (GRCm39)		probably benign	Het
Grip2	A	G	6: 91,755,852 (GRCm39)	I586T	probably benign	Het
Hif1a	C	T	12: 73,987,251 (GRCm39)	P448L	probably benign	Het
Hmcn1	C	T	1: 150,684,290 (GRCm39)	V427I	probably benign	Het
Ipo8	C	A	6: 148,678,737 (GRCm39)	V954L	probably benign	Het
Kdm5a	G	T	6: 120,351,951 (GRCm39)		probably null	Het
Klhl36	T	A	8: 120,603,229 (GRCm39)	S495T	probably benign	Het
Lpar5	T	A	6: 125,059,203 (GRCm39)	L308Q	probably damaging	Het
Lrp2	T	G	2: 69,367,897 (GRCm39)	D205A	probably benign	Het
Lrriq1	A	G	10: 103,063,057 (GRCm39)	I83T	probably benign	Het
Mapk8ip2	A	T	15: 89,342,310 (GRCm39)	D507V	probably damaging	Het
Mical1	T	C	10: 41,355,501 (GRCm39)		probably benign	Het
Myef2	T	A	2: 124,930,954 (GRCm39)	H539L	possibly damaging	Het
Myh7	T	C	14: 55,221,007 (GRCm39)	E972G	probably damaging	Het
Naip5	A	G	13: 100,359,524 (GRCm39)	Y571H	probably benign	Het
Nfasc	T	A	1: 132,538,207 (GRCm39)	N478I	probably damaging	Het
Or6c1b	A	G	10: 129,272,780 (GRCm39)	Y33C	probably damaging	Het
Pde2a	A	T	7: 101,130,627 (GRCm39)	Q89L	probably benign	Het
Ppard	C	A	17: 28,518,765 (GRCm39)	T422K	possibly damaging	Het
Ppp1r13b	G	T	12: 111,796,830 (GRCm39)	Y904*	probably null	Het
Ptx4	T	A	17: 25,344,022 (GRCm39)	I424K	possibly damaging	Het
Rab19	A	G	6: 39,360,927 (GRCm39)	D25G	probably damaging	Het
Rbl2	T	A	8: 91,805,534 (GRCm39)	I197N	possibly damaging	Het
Rttn	A	G	18: 88,997,814 (GRCm39)	D273G	probably damaging	Het
Sec16a	G	A	2: 26,313,601 (GRCm39)	R1920C	probably benign	Het
Sec23b	A	T	2: 144,429,465 (GRCm39)	N731I	possibly damaging	Het
Sim2	G	A	16: 93,910,351 (GRCm39)		probably benign	Het
Tbl3	T	C	17: 24,920,167 (GRCm39)		probably null	Het
Tmem176b	C	T	6: 48,812,573 (GRCm39)	A131T	probably damaging	Het
Tmem181a	T	A	17: 6,348,494 (GRCm39)	V332D	probably damaging	Het
Trgc1	G	T	13: 19,398,563 (GRCm39)	G97*	probably null	Het
Tuba3b	T	A	6: 145,565,117 (GRCm39)	L195Q	probably damaging	Het
Ubc	A	T	5: 125,464,565 (GRCm39)	V254D	probably damaging	Het
Ube4b	G	T	4: 149,465,734 (GRCm39)	P239T	probably damaging	Het
Vars1	G	T	17: 35,232,663 (GRCm39)	M862I	probably damaging	Het
Vmn2r66	T	C	7: 84,644,777 (GRCm39)		probably benign	Het
Wdr59	G	A	8: 112,188,824 (GRCm39)	A720V	probably damaging	Het
Zfhx3	G	A	8: 109,519,820 (GRCm39)	R314Q	probably 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
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
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