Mutagenetix > Incidental Mutation

Incidental Mutation 'R7724:Serpinb5'

595371

Institutional Source

Beutler Lab

Gene Symbol

Serpinb5

Ensembl Gene

ENSMUSG00000067006

Gene Name

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

Synonyms

1110036M19Rik, Maspin, ovalbumin, Spi7

MMRRC Submission

045780-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.859) question?

Stock #

R7724 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

106788905-106811078 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 106802872 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 136 (I136F)

Ref Sequence

ENSEMBL: ENSMUSP00000083908 (fasta)

Gene Model

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

AlphaFold

P70124

Predicted Effect

probably damaging
Transcript: ENSMUST00000086701
AA Change: I136F

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000083908
Gene: ENSMUSG00000067006
AA Change: I136F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000112729
AA Change: I136F

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108349
Gene: ENSMUSG00000067006
AA Change: I136F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000112730
AA Change: I136F

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108350
Gene: ENSMUSG00000067006
AA Change: I136F

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

Predicted Effect

probably benign
Transcript: ENSMUST00000188745

SMART Domains

Protein: ENSMUSP00000140264
Gene: ENSMUSG00000067006

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130401M01Rik	A	C	15: 57,885,857 (GRCm39)	S342A	probably benign	Het
Adarb2	C	A	13: 8,620,292 (GRCm39)	H259Q	probably benign	Het
Ak7	T	A	12: 105,682,289 (GRCm39)	I150N	probably damaging	Het
Arhgef12	A	T	9: 42,938,567 (GRCm39)	I75N	probably damaging	Het
Arhgef17	C	T	7: 100,529,816 (GRCm39)	G480S	probably damaging	Het
Atic	T	C	1: 71,604,060 (GRCm39)	Y208H	probably damaging	Het
Atp8b4	T	A	2: 126,164,813 (GRCm39)	N1168Y	possibly damaging	Het
Ccdc202	A	G	14: 96,119,686 (GRCm39)	N148D	possibly damaging	Het
Cdh15	G	T	8: 123,593,700 (GRCm39)	D765Y	probably damaging	Het
Celf4	C	T	18: 25,619,850 (GRCm39)		probably null	Het
Cep57l1	G	A	10: 41,621,838 (GRCm39)	T26M	possibly damaging	Het
Ces2g	T	A	8: 105,693,484 (GRCm39)	D388E	probably benign	Het
Cir1	T	C	2: 73,137,234 (GRCm39)	N69S	possibly damaging	Het
Ctc1	C	A	11: 68,917,170 (GRCm39)	H355N	probably benign	Het
Ebf2	A	T	14: 67,661,489 (GRCm39)	K539M	probably damaging	Het
Ehbp1	G	A	11: 22,039,572 (GRCm39)	H843Y	probably null	Het
Fat2	C	T	11: 55,175,622 (GRCm39)	G1697E	probably damaging	Het
Fga	A	G	3: 82,936,432 (GRCm39)	D76G	probably damaging	Het
Fn1	A	T	1: 71,642,894 (GRCm39)	S1786T	probably benign	Het
Frmpd1	A	T	4: 45,229,888 (GRCm39)	E18D	probably damaging	Het
Gbp8	A	T	5: 105,179,160 (GRCm39)	I113N	probably damaging	Het
Gm10549	A	T	18: 33,603,912 (GRCm39)	R132*	probably null	Het
Gmps	T	A	3: 63,893,074 (GRCm39)	D126E	possibly damaging	Het
Gria4	A	G	9: 4,472,074 (GRCm39)	Y472H	probably damaging	Het
Helz2	T	C	2: 180,873,789 (GRCm39)	Y2235C	probably damaging	Het
Hrnr	A	G	3: 93,230,323 (GRCm39)	N187S	unknown	Het
Ifit1bl1	T	C	19: 34,571,405 (GRCm39)	K351E	probably benign	Het
Klhl23	A	G	2: 69,655,056 (GRCm39)	T309A	probably benign	Het
Ldhal6b	A	G	17: 5,468,877 (GRCm39)	V19A	probably benign	Het
Lrrc59	C	T	11: 94,534,170 (GRCm39)	R243C	probably damaging	Het
Magi3	A	C	3: 103,923,243 (GRCm39)	I1158R	probably benign	Het
Mical2	T	A	7: 111,922,833 (GRCm39)	Y613N	probably damaging	Het
Myoc	T	A	1: 162,467,396 (GRCm39)		probably null	Het
Npas3	C	A	12: 54,115,124 (GRCm39)	S682Y	possibly damaging	Het
Ogdh	T	C	11: 6,274,887 (GRCm39)	V172A	probably benign	Het
Or2t46	T	A	11: 58,472,208 (GRCm39)	H179Q	probably benign	Het
Or52r1c	T	A	7: 102,735,470 (GRCm39)	C243*	probably null	Het
Or56a42-ps1	A	G	7: 104,777,459 (GRCm39)	Y52H	probably damaging	Het
Or8k30	A	G	2: 86,338,949 (GRCm39)	T49A	probably damaging	Het
Or8s5	A	T	15: 98,238,775 (GRCm39)	S32T	possibly damaging	Het
P2rx7	A	T	5: 122,811,436 (GRCm39)	I331F	probably benign	Het
Pcdhb14	A	T	18: 37,581,937 (GRCm39)	T348S	possibly damaging	Het
Prdx6b	A	G	2: 80,123,746 (GRCm39)	E185G	probably benign	Het
Rdh1	A	G	10: 127,600,576 (GRCm39)	K200E	possibly damaging	Het
Sema6c	A	T	3: 95,080,510 (GRCm39)	R935W	probably damaging	Het
Skint10	A	T	4: 112,622,289 (GRCm39)	Y31*	probably null	Het
St6galnac1	C	T	11: 116,656,898 (GRCm39)		probably null	Het
Synj1	G	A	16: 90,758,387 (GRCm39)	T819M	probably damaging	Het
Tacr3	T	A	3: 134,635,669 (GRCm39)	V291E	probably damaging	Het
Tdo2	A	G	3: 81,875,390 (GRCm39)		probably null	Het
Tex15	T	A	8: 34,036,291 (GRCm39)	D72E	possibly damaging	Het
Tph2	T	C	10: 114,915,727 (GRCm39)	T438A	probably benign	Het
Uaca	A	G	9: 60,777,187 (GRCm39)	T525A	probably benign	Het
Ulk1	A	T	5: 110,940,270 (GRCm39)	C384S	probably benign	Het
Uvrag	T	C	7: 98,641,170 (GRCm39)	D290G	probably benign	Het
Zfp541	T	C	7: 15,805,919 (GRCm39)	L18P	probably damaging	Het

Other mutations in Serpinb5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02237:Serpinb5	APN	1	106,808,056 (GRCm39)	missense	probably benign	0.01
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
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

Predicted Primers

PCR Primer
(F):5'- GTACTGCATTAGCTCCATTTACATTTG -3'
(R):5'- CAGTGCACCACAATAATTTGCC -3'

Sequencing Primer
(F):5'- TTTGCAAAGAGCTGCCCAG -3'
(R):5'- TGAGCTGCTATGAGAAATGCCC -3'

Posted On

2019-11-12