Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02707:Serpinb1b'

304395

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Serpinb1b

Ensembl Gene

ENSMUSG00000051029

Gene Name

serine (or cysteine) peptidase inhibitor, clade B, member 1b

Synonyms

EIB, ovalbumin, 6330533H24Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

IGL02707

Quality Score

Status

Chromosome

Chromosomal Location

33262558-33278363 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 33275648 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 194 (T194I)

Ref Sequence

ENSEMBL: ENSMUSP00000016951 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016951]

AlphaFold

Q8VHP7

Predicted Effect

probably benign
Transcript: ENSMUST00000016951
AA Change: T194I

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000016951
Gene: ENSMUSG00000051029
AA Change: T194I

Domain	Start	End	E-Value	Type
SERPIN	13	382	9e-182	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	T	C	9: 57,165,928 (GRCm39)	T149A	probably benign	Het
4932414N04Rik	A	C	2: 68,561,474 (GRCm39)	Q267P	possibly damaging	Het
Actr5	T	C	2: 158,478,617 (GRCm39)	V489A	probably benign	Het
Adam26b	T	C	8: 43,972,895 (GRCm39)		probably benign	Het
Aff4	A	G	11: 53,290,567 (GRCm39)	N509S	probably benign	Het
Arhgap22	C	T	14: 33,085,229 (GRCm39)		probably benign	Het
Arhgap9	C	A	10: 127,165,476 (GRCm39)	H628Q	probably damaging	Het
Asap1	A	T	15: 64,001,123 (GRCm39)	I486N	probably damaging	Het
Asb15	A	T	6: 24,558,787 (GRCm39)		probably benign	Het
Avil	A	G	10: 126,842,431 (GRCm39)	D70G	probably damaging	Het
Cct6b	T	C	11: 82,645,780 (GRCm39)		probably benign	Het
Cep63	A	T	9: 102,464,180 (GRCm39)	I717K	probably damaging	Het
Chd4	G	T	6: 125,085,730 (GRCm39)	A875S	probably damaging	Het
Col4a4	A	T	1: 82,471,237 (GRCm39)	M706K	unknown	Het
Cr1l	T	C	1: 194,806,019 (GRCm39)	T155A	probably benign	Het
Ctnna3	A	G	10: 63,339,844 (GRCm39)	N10S	probably benign	Het
Cubn	A	G	2: 13,450,843 (GRCm39)	V854A	probably damaging	Het
Dgkh	T	C	14: 78,823,091 (GRCm39)	T845A	possibly damaging	Het
F10	G	A	8: 13,098,252 (GRCm39)	A152T	probably damaging	Het
Gabrg3	C	A	7: 56,632,439 (GRCm39)	E170*	probably null	Het
Heatr5a	A	G	12: 51,968,149 (GRCm39)	V829A	probably benign	Het
Htt	T	A	5: 34,987,225 (GRCm39)		probably null	Het
Icam4	T	C	9: 20,941,770 (GRCm39)	Y257H	possibly damaging	Het
Jph1	A	G	1: 17,074,675 (GRCm39)	S448P	probably benign	Het
Kansl1l	G	A	1: 66,812,604 (GRCm39)	L125F	probably damaging	Het
Kifc1	A	T	17: 34,100,467 (GRCm39)	C46*	probably null	Het
Lce3b	A	G	3: 92,841,193 (GRCm39)	D96G	unknown	Het
Mab21l1	A	T	3: 55,690,505 (GRCm39)	I31F	possibly damaging	Het
Mctp2	A	G	7: 71,909,089 (GRCm39)	Y75H	possibly damaging	Het
Mesp2	A	G	7: 79,461,274 (GRCm39)	I200V	probably benign	Het
Msr1	T	C	8: 40,085,870 (GRCm39)		probably benign	Het
Mtfr2	C	T	10: 20,224,084 (GRCm39)	T6I	probably benign	Het
Myo5b	T	C	18: 74,828,438 (GRCm39)		probably benign	Het
Myoc	T	A	1: 162,467,029 (GRCm39)	I66N	probably benign	Het
Or10d1b	T	C	9: 39,613,937 (GRCm39)	I43V	probably damaging	Het
Or4a70	A	T	2: 89,324,171 (GRCm39)	Y162N	probably damaging	Het
Or51k1	A	C	7: 103,661,609 (GRCm39)	L100W	probably damaging	Het
Or52n20	T	C	7: 104,320,136 (GRCm39)	C76R	probably damaging	Het
Or52n2b	A	G	7: 104,565,859 (GRCm39)	C215R	probably damaging	Het
Or7a39	T	C	10: 78,715,759 (GRCm39)	L251S	probably damaging	Het
Per2	T	C	1: 91,378,450 (GRCm39)	D33G	possibly damaging	Het
Pknox1	A	G	17: 31,821,793 (GRCm39)	I295V	possibly damaging	Het
Rgs11	G	A	17: 26,426,605 (GRCm39)	V279I	probably benign	Het
Rhot2	A	G	17: 26,063,270 (GRCm39)	S19P	probably damaging	Het
Rps6kb1	C	A	11: 86,426,236 (GRCm39)		probably null	Het
Smarcad1	T	A	6: 65,029,790 (GRCm39)		probably benign	Het
Stxbp4	A	G	11: 90,428,759 (GRCm39)	S449P	probably benign	Het
Thrb	A	C	14: 18,026,721 (GRCm38)	I275L	probably benign	Het
Tjp1	T	A	7: 64,979,431 (GRCm39)	K365*	probably null	Het
Tjp1	T	A	7: 64,979,430 (GRCm39)	K365I	possibly damaging	Het
Tm4sf4	C	A	3: 57,333,939 (GRCm39)	C75*	probably null	Het
Tmem131	T	C	1: 36,864,560 (GRCm39)	T558A	probably benign	Het
Txndc16	T	C	14: 45,399,730 (GRCm39)	T408A	probably benign	Het
Ube2j1	T	C	4: 33,038,206 (GRCm39)	L38P	possibly damaging	Het
Urb2	T	C	8: 124,757,425 (GRCm39)	I1044T	probably benign	Het

Other mutations in Serpinb1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00493:Serpinb1b	APN	13	33,277,850 (GRCm39)	missense	probably damaging	1.00
IGL01348:Serpinb1b	APN	13	33,275,398 (GRCm39)	missense	probably benign	0.25
IGL01413:Serpinb1b	APN	13	33,277,842 (GRCm39)	missense	probably damaging	0.98
IGL01942:Serpinb1b	APN	13	33,269,294 (GRCm39)	missense	possibly damaging	0.69
IGL02065:Serpinb1b	APN	13	33,275,301 (GRCm39)	missense	possibly damaging	0.66
IGL03149:Serpinb1b	APN	13	33,269,275 (GRCm39)	missense	possibly damaging	0.90
R0087:Serpinb1b	UTSW	13	33,269,302 (GRCm39)	missense	probably benign	0.02
R0279:Serpinb1b	UTSW	13	33,277,696 (GRCm39)	missense	possibly damaging	0.81
R0448:Serpinb1b	UTSW	13	33,273,675 (GRCm39)	missense	probably benign	0.01
R1605:Serpinb1b	UTSW	13	33,277,646 (GRCm39)	missense	possibly damaging	0.82
R1628:Serpinb1b	UTSW	13	33,277,637 (GRCm39)	missense	probably benign	0.00
R1955:Serpinb1b	UTSW	13	33,269,422 (GRCm39)	missense	probably benign	0.08
R6124:Serpinb1b	UTSW	13	33,277,796 (GRCm39)	missense	probably benign	0.01
R6632:Serpinb1b	UTSW	13	33,271,438 (GRCm39)	missense	probably damaging	0.97
R7205:Serpinb1b	UTSW	13	33,271,406 (GRCm39)	missense	probably benign	0.07
R7296:Serpinb1b	UTSW	13	33,277,810 (GRCm39)	missense	probably benign	0.30
R7475:Serpinb1b	UTSW	13	33,277,548 (GRCm39)	missense	probably benign	0.01
R7624:Serpinb1b	UTSW	13	33,275,622 (GRCm39)	splice site	probably null
R7958:Serpinb1b	UTSW	13	33,273,636 (GRCm39)	missense	possibly damaging	0.90
R8058:Serpinb1b	UTSW	13	33,269,293 (GRCm39)	missense	probably benign	0.01
R8325:Serpinb1b	UTSW	13	33,277,584 (GRCm39)	missense	probably benign
R8738:Serpinb1b	UTSW	13	33,271,500 (GRCm39)	missense	probably damaging	1.00
R9001:Serpinb1b	UTSW	13	33,277,743 (GRCm39)	missense	probably benign
R9184:Serpinb1b	UTSW	13	33,269,393 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16