Mutagenetix > Incidental Mutations

Incidental Mutation 'R4198:Serpinb9d'

318648

Institutional Source

Beutler Lab

Gene Symbol

Serpinb9d

Ensembl Gene

ENSMUSG00000054266

Gene Name

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

Synonyms

AT2, ovalbumin, Spi9

MMRRC Submission

041640-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

R4198 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33192959-33203129 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33202965 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 339 (I339V)

Ref Sequence

ENSEMBL: ENSMUSP00000067710 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000067198
AA Change: I339V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000067710
Gene: ENSMUSG00000054266
AA Change: I339V

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox1	G	A	1: 58,085,607	M1002I	probably benign	Het
Ap2b1	C	A	11: 83,342,603	Q481K	probably damaging	Het
Arhgap31	G	A	16: 38,623,913	A194V	probably damaging	Het
Atp10a	A	G	7: 58,813,686	D989G	probably damaging	Het
Ccny	G	A	18: 9,332,928	T201I	probably damaging	Het
Cdca5	T	C	19: 6,090,352	V181A	possibly damaging	Het
Ces1g	A	G	8: 93,305,868	I488T	probably benign	Het
Csmd2	A	G	4: 128,510,924	T2368A	probably benign	Het
Cux1	T	A	5: 136,286,848	I1113F	probably damaging	Het
Dnah3	C	T	7: 119,922,838	G4033D	probably damaging	Het
Fam122c	G	A	X: 53,293,499	R94H	possibly damaging	Het
Foxg1	T	A	12: 49,385,299	S272T	possibly damaging	Het
Fyco1	T	C	9: 123,826,634	N1020D	probably benign	Het
Gprc5c	T	G	11: 114,863,860	L121R	probably damaging	Het
Hyou1	G	A	9: 44,388,859	R815H	probably damaging	Het
Kera	T	C	10: 97,612,973	*352Q	probably null	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Lnpk	T	C	2: 74,569,109	E30G	probably damaging	Het
Map2	C	T	1: 66,425,298	R128C	probably damaging	Het
Olfr1357	A	T	10: 78,612,067	D191E	possibly damaging	Het
Olfr1381	G	A	11: 49,552,634	V296M	possibly damaging	Het
Olfr573-ps1	A	G	7: 102,941,797	F260S	probably damaging	Het
Olfr97	T	A	17: 37,232,134	M79L	probably benign	Het
Ror2	A	G	13: 53,110,644	M792T	probably benign	Het
Slc1a1	A	G	19: 28,901,452	K197R	probably benign	Het
Snx20	A	G	8: 88,627,598	V168A	possibly damaging	Het
Sowaha	T	C	11: 53,478,568	E447G	possibly damaging	Het
Stard8	AGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGA	X: 99,066,508		probably benign	Het
Stx19	G	T	16: 62,822,676	C285F	possibly damaging	Het
Syp	A	G	X: 7,639,927		probably null	Het
Tbkbp1	C	T	11: 97,149,068		probably null	Het
Trim29	G	T	9: 43,311,380	E169*	probably null	Het
Ttll12	T	C	15: 83,577,013	N602D	probably damaging	Het
Zfp26	T	C	9: 20,436,716	T851A	probably benign	Het
Zfp316	T	C	5: 143,254,471	M598V	probably benign	Het
Zhx2	A	G	15: 57,821,729	I165V	probably benign	Het

Other mutations in Serpinb9d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01516:Serpinb9d	APN	13	33202671	splice site	probably null
IGL01610:Serpinb9d	APN	13	33198002	missense	probably benign	0.12
IGL01702:Serpinb9d	APN	13	33203023	missense	probably damaging	1.00
IGL01833:Serpinb9d	APN	13	33200705	missense	probably damaging	1.00
IGL02029:Serpinb9d	APN	13	33196529	missense	possibly damaging	0.74
IGL03013:Serpinb9d	APN	13	33196538	missense	probably damaging	1.00
IGL03027:Serpinb9d	APN	13	33202715	nonsense	probably null
IGL03056:Serpinb9d	APN	13	33202753	missense	probably damaging	1.00
IGL03189:Serpinb9d	APN	13	33202912	missense	probably damaging	1.00
IGL03206:Serpinb9d	APN	13	33198031	missense	possibly damaging	0.61
R0217:Serpinb9d	UTSW	13	33198022	missense	possibly damaging	0.79
R0370:Serpinb9d	UTSW	13	33195966	missense	probably damaging	1.00
R1174:Serpinb9d	UTSW	13	33200625	missense	probably benign	0.23
R1175:Serpinb9d	UTSW	13	33200625	missense	probably benign	0.23
R1711:Serpinb9d	UTSW	13	33200748	missense	probably benign	0.03
R1716:Serpinb9d	UTSW	13	33196517	missense	probably damaging	1.00
R1874:Serpinb9d	UTSW	13	33197963	splice site	probably null
R2186:Serpinb9d	UTSW	13	33203047	missense	possibly damaging	0.82
R2497:Serpinb9d	UTSW	13	33196517	missense	probably damaging	1.00
R4198:Serpinb9d	UTSW	13	33202674	splice site	probably null
R4199:Serpinb9d	UTSW	13	33202674	splice site	probably null
R4584:Serpinb9d	UTSW	13	33200616	missense	probably damaging	1.00
R4650:Serpinb9d	UTSW	13	33202853	missense	probably benign	0.00
R5573:Serpinb9d	UTSW	13	33196440	critical splice acceptor site	probably null
R5627:Serpinb9d	UTSW	13	33202693	missense	probably damaging	1.00
R6336:Serpinb9d	UTSW	13	33194694	missense	probably damaging	1.00
R6706:Serpinb9d	UTSW	13	33196558	missense	probably benign
R6948:Serpinb9d	UTSW	13	33200723	missense	possibly damaging	0.95
R7271:Serpinb9d	UTSW	13	33194634	missense	probably benign	0.43
R7336:Serpinb9d	UTSW	13	33200719	missense	probably benign	0.00
R7436:Serpinb9d	UTSW	13	33195933	missense	probably benign	0.35
R7675:Serpinb9d	UTSW	13	33202776	nonsense	probably null
R7874:Serpinb9d	UTSW	13	33202671	splice site	probably null
R7957:Serpinb9d	UTSW	13	33202671	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- TTCCCTGTTACAGCATTTGGG -3'
(R):5'- TTGTGGCATATCACCAACAGG -3'

Sequencing Primer
(F):5'- CCCTGTTACAGCATTTGGGAATTTTG -3'
(R):5'- GTGCATTTCACAGAGTCATCG -3'

Posted On

2015-06-10