Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02237:Serpinb5'

285929

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Serpinb5

Ensembl Gene

ENSMUSG00000067006

Gene Name

serine (or cysteine) peptidase inhibitor, clade B, member 5

Synonyms

1110036M19Rik, Maspin, ovalbumin, Spi7

Accession Numbers

Essential gene?

Probably essential (E-score: 0.845) question?

Stock #

IGL02237

Quality Score

Status

Chromosome

Chromosomal Location

106788905-106811078 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106808056 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 69 (S69P)

Ref Sequence

ENSEMBL: ENSMUSP00000140264 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086701] [ENSMUST00000112729] [ENSMUST00000112730] [ENSMUST00000188745]

AlphaFold

P70124

Predicted Effect

probably benign
Transcript: ENSMUST00000086701
AA Change: S240P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000083908
Gene: ENSMUSG00000067006
AA Change: S240P

Domain	Start	End	E-Value	Type
SERPIN	13	375	9.76e-160	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112729
AA Change: S240P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000108349
Gene: ENSMUSG00000067006
AA Change: S240P

Domain	Start	End	E-Value	Type
SERPIN	13	375	9.76e-160	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112730
AA Change: S240P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000108350
Gene: ENSMUSG00000067006
AA Change: S240P

Domain	Start	End	E-Value	Type
SERPIN	13	375	9.76e-160	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000188745
AA Change: S69P

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000140264
Gene: ENSMUSG00000067006
AA Change: S69P

Domain	Start	End	E-Value	Type
Pfam:Serpin	1	74	1.6e-15	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for one null allele displayed peri-implantation lethality with impaired endoderm development and attenuated inner cell mass growth. Mice homozygous for another null allele were viable and fertile with no gross abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd16b	T	A	2: 181,135,350 (GRCm39)	V84E	probably benign	Het
Adam39	A	T	8: 41,278,482 (GRCm39)	E291V	probably benign	Het
Ak5	T	A	3: 152,204,980 (GRCm39)	D372V	probably benign	Het
Brpf1	C	T	6: 113,287,336 (GRCm39)	P188L	probably damaging	Het
Cacna2d3	C	T	14: 29,068,954 (GRCm39)	V258I	probably benign	Het
Cd14	A	G	18: 36,858,912 (GRCm39)	F181S	probably damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cts6	A	T	13: 61,345,313 (GRCm39)	D261E	probably benign	Het
Daam1	A	G	12: 72,029,495 (GRCm39)	T897A	probably benign	Het
Ddx25	T	A	9: 35,453,365 (GRCm39)		probably benign	Het
Ddx55	A	G	5: 124,705,958 (GRCm39)	E461G	probably damaging	Het
Degs1	T	C	1: 182,107,253 (GRCm39)	K2R	probably damaging	Het
Drc7	C	T	8: 95,799,507 (GRCm39)	L561F	probably damaging	Het
Eif4enif1	A	T	11: 3,177,876 (GRCm39)	K423*	probably null	Het
Epha7	A	G	4: 28,949,325 (GRCm39)		probably null	Het
Erich5	A	C	15: 34,471,482 (GRCm39)	E237A	probably benign	Het
Ficd	A	G	5: 113,876,373 (GRCm39)	T183A	probably damaging	Het
Foxb2	T	C	19: 16,850,908 (GRCm39)	M33V	unknown	Het
Gja8	T	G	3: 96,827,249 (GRCm39)	S138R	probably benign	Het
Gm28042	T	G	2: 119,870,380 (GRCm39)	L743V	possibly damaging	Het
Gtf3c2	A	T	5: 31,316,397 (GRCm39)		probably benign	Het
Itga11	T	C	9: 62,663,057 (GRCm39)		probably null	Het
Kazn	A	T	4: 141,874,410 (GRCm39)	D315E	probably benign	Het
Kbtbd2	A	T	6: 56,756,033 (GRCm39)	S568T	possibly damaging	Het
Man1c1	A	C	4: 134,311,609 (GRCm39)		probably null	Het
Myh9	A	G	15: 77,670,854 (GRCm39)	S463P	probably benign	Het
Nlrp4a	G	T	7: 26,148,703 (GRCm39)	K103N	possibly damaging	Het
Oog2	T	A	4: 143,923,016 (GRCm39)	F427Y	possibly damaging	Het
Pcmtd1	T	C	1: 7,233,601 (GRCm39)		probably null	Het
Pcnt	C	A	10: 76,188,818 (GRCm39)	D2861Y	probably damaging	Het
Pdzd7	C	T	19: 45,028,697 (GRCm39)	A149T	probably damaging	Het
Pebp4	A	T	14: 70,297,105 (GRCm39)	T215S	possibly damaging	Het
Pgm1	T	C	4: 99,820,707 (GRCm39)		probably benign	Het
Plekhh2	T	A	17: 84,883,213 (GRCm39)	D760E	probably benign	Het
Pomt1	T	C	2: 32,135,689 (GRCm39)	I351T	probably benign	Het
Ptpn21	C	T	12: 98,671,351 (GRCm39)		probably null	Het
Rsad2	T	G	12: 26,506,186 (GRCm39)	Y78S	probably damaging	Het
Rsbn1l	A	T	5: 21,124,604 (GRCm39)	N399K	probably benign	Het
Sec31a	A	G	5: 100,509,914 (GRCm39)	V1191A	probably damaging	Het
Sema6c	C	T	3: 95,077,430 (GRCm39)	P414L	probably damaging	Het
Slc25a13	C	T	6: 6,042,646 (GRCm39)	R586H	probably damaging	Het
Spink5	T	A	18: 44,145,934 (GRCm39)	M776K	probably benign	Het
Srcap	A	G	7: 127,133,864 (GRCm39)		probably benign	Het
Stt3a	G	A	9: 36,660,933 (GRCm39)	Q293*	probably null	Het
Syne4	T	A	7: 30,015,988 (GRCm39)		probably null	Het
Tomm40l	C	T	1: 171,048,463 (GRCm39)	V97M	possibly damaging	Het
Trpc4	C	T	3: 54,129,783 (GRCm39)	S183F	probably damaging	Het
Ttn	C	T	2: 76,716,478 (GRCm39)		probably benign	Het
Ufl1	A	C	4: 25,269,082 (GRCm39)	S170A	probably benign	Het
Vmn2r66	G	A	7: 84,643,908 (GRCm39)	T834I	probably benign	Het
Vmn2r75	A	G	7: 85,814,786 (GRCm39)	S236P	possibly damaging	Het
Zfp345	A	T	2: 150,316,805 (GRCm39)		probably benign	Het
Zfp955b	T	C	17: 33,520,893 (GRCm39)	S121P	probably damaging	Het

Other mutations in Serpinb5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1385:Serpinb5	UTSW	1	106,803,853 (GRCm39)	missense	probably damaging	1.00
R1480:Serpinb5	UTSW	1	106,809,437 (GRCm39)	missense	probably benign
R1497:Serpinb5	UTSW	1	106,803,782 (GRCm39)	missense	probably benign	0.08
R1503:Serpinb5	UTSW	1	106,798,019 (GRCm39)	missense	possibly damaging	0.76
R1933:Serpinb5	UTSW	1	106,803,851 (GRCm39)	missense	probably damaging	0.99
R2400:Serpinb5	UTSW	1	106,809,682 (GRCm39)	missense	probably damaging	0.98
R2567:Serpinb5	UTSW	1	106,802,876 (GRCm39)	missense	probably benign	0.33
R2923:Serpinb5	UTSW	1	106,803,770 (GRCm39)	missense	probably benign
R3148:Serpinb5	UTSW	1	106,809,555 (GRCm39)	missense	probably damaging	1.00
R3820:Serpinb5	UTSW	1	106,802,802 (GRCm39)	nonsense	probably null
R4667:Serpinb5	UTSW	1	106,800,025 (GRCm39)	missense	probably benign	0.00
R4814:Serpinb5	UTSW	1	106,800,069 (GRCm39)	missense	probably damaging	1.00
R4815:Serpinb5	UTSW	1	106,800,069 (GRCm39)	missense	probably damaging	1.00
R4816:Serpinb5	UTSW	1	106,800,069 (GRCm39)	missense	probably damaging	1.00
R4817:Serpinb5	UTSW	1	106,800,069 (GRCm39)	missense	probably damaging	1.00
R5369:Serpinb5	UTSW	1	106,809,487 (GRCm39)	missense	possibly damaging	0.85
R6108:Serpinb5	UTSW	1	106,809,458 (GRCm39)	missense	probably damaging	1.00
R6222:Serpinb5	UTSW	1	106,798,070 (GRCm39)	missense	probably benign	0.09
R6251:Serpinb5	UTSW	1	106,802,795 (GRCm39)	missense	possibly damaging	0.96
R6349:Serpinb5	UTSW	1	106,809,495 (GRCm39)	missense	probably benign	0.44
R6936:Serpinb5	UTSW	1	106,798,148 (GRCm39)	missense	probably benign	0.00
R6977:Serpinb5	UTSW	1	106,800,077 (GRCm39)	missense	probably benign	0.20
R7332:Serpinb5	UTSW	1	106,800,091 (GRCm39)	missense	probably benign	0.00
R7369:Serpinb5	UTSW	1	106,802,879 (GRCm39)	missense	probably benign	0.29
R7443:Serpinb5	UTSW	1	106,809,700 (GRCm39)	missense	probably benign	0.00
R7499:Serpinb5	UTSW	1	106,800,119 (GRCm39)	critical splice donor site	probably null
R7724:Serpinb5	UTSW	1	106,802,872 (GRCm39)	missense	probably damaging	0.98
R8425:Serpinb5	UTSW	1	106,809,515 (GRCm39)	missense	possibly damaging	0.86
R9125:Serpinb5	UTSW	1	106,798,137 (GRCm39)	missense	probably benign	0.19
R9208:Serpinb5	UTSW	1	106,803,853 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16