Mutagenetix > Incidental Mutations

Incidental Mutation 'R1933:Serpinb5'

215532

Institutional Source

Beutler Lab

Gene Symbol

Serpinb5

Ensembl Gene

ENSMUSG00000067006

Gene Name

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

Synonyms

ovalbumin, 1110036M19Rik, Maspin, Spi7

MMRRC Submission

039951-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.799) question?

Stock #

R1933 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106861173-106883348 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106876121 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 8 (E8G)

Ref Sequence

ENSEMBL: ENSMUSP00000140264 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000086701
AA Change: E179G

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

SMART Domains

Protein: ENSMUSP00000083908
Gene: ENSMUSG00000067006
AA Change: E179G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000112729
AA Change: E179G

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

SMART Domains

Protein: ENSMUSP00000108349
Gene: ENSMUSG00000067006
AA Change: E179G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000112730
AA Change: E179G

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

SMART Domains

Protein: ENSMUSP00000108350
Gene: ENSMUSG00000067006
AA Change: E179G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000188745
AA Change: E8G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000140264
Gene: ENSMUSG00000067006
AA Change: E8G

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

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.7%
20x: 93.4%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	A	T	8: 40,754,885	Y396F	probably benign	Het
Adra2a	T	A	19: 54,046,406	F64L	probably damaging	Het
Ankrd45	A	T	1: 161,151,300	N103I	probably damaging	Het
Arhgef7	C	A	8: 11,808,713		probably null	Het
Bsn	A	G	9: 108,116,444	V703A	possibly damaging	Het
Btaf1	T	A	19: 36,972,957	I529K	probably damaging	Het
Ccdc110	A	G	8: 45,943,250	N726S	probably damaging	Het
Ccdc78	T	A	17: 25,787,070	S71T	probably damaging	Het
Cct5	G	T	15: 31,591,008	Q516K	probably benign	Het
Cd300c2	A	T	11: 115,000,859	V63E	probably benign	Het
Cdh16	A	G	8: 104,617,963	V7A	possibly damaging	Het
Clec16a	T	C	16: 10,688,539	F710L	probably damaging	Het
Clpb	T	G	7: 101,779,211	F393V	probably damaging	Het
Commd9	G	A	2: 101,901,031	R187H	probably damaging	Het
Crx	T	A	7: 15,868,376	K126*	probably null	Het
Dcaf13	T	A	15: 39,138,088	Y264N	probably damaging	Het
Dnah12	T	A	14: 26,734,495	I791N	probably damaging	Het
Dpy19l1	A	T	9: 24,434,387	D456E	probably damaging	Het
Dscam	A	G	16: 96,593,214	S1963P	probably benign	Het
Efl1	C	T	7: 82,763,117	Q905*	probably null	Het
Fam57b	T	A	7: 126,827,672		probably null	Het
Farsa	T	C	8: 84,861,151	F104L	probably benign	Het
Fbxl19	C	A	7: 127,750,929	A231E	probably benign	Het
Fbxw19	A	T	9: 109,481,650	N401K	probably benign	Het
Foxp1	TTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	6: 99,075,965		probably benign	Het
Frem3	A	G	8: 80,612,890	N604S	probably benign	Het
Gad1	T	G	2: 70,587,392	C312G	possibly damaging	Het
Garem2	G	T	5: 30,114,862	E441*	probably null	Het
Glra3	G	T	8: 55,940,907	A18S	probably benign	Het
Gm8206	A	T	14: 6,022,475	M8K	probably benign	Het
Gpr162	G	A	6: 124,861,447	S80F	probably damaging	Het
Grpr	C	A	X: 163,549,141	V53L	probably benign	Het
Il21	C	T	3: 37,232,486	R27H	probably benign	Het
Il21r	C	T	7: 125,628,981	T208I	possibly damaging	Het
Kcnab2	T	C	4: 152,435,866	T6A	possibly damaging	Het
Klra4	T	A	6: 130,065,244	Q20L	possibly damaging	Het
Lrrtm1	A	T	6: 77,244,966		probably null	Het
Lrrtm3	A	G	10: 64,088,513	F292L	possibly damaging	Het
Mpeg1	A	T	19: 12,462,647	K490*	probably null	Het
Myh14	C	T	7: 44,615,348	M1671I	probably benign	Het
Nebl	A	T	2: 17,375,292	M757K	probably damaging	Het
Olfr1110	T	A	2: 87,135,844	H159L	probably damaging	Het
Olfr504	A	C	7: 108,565,523	F91V	possibly damaging	Het
Olfr631	G	T	7: 103,929,130	M102I	probably damaging	Het
Pkhd1l1	A	T	15: 44,540,884	H2303L	possibly damaging	Het
Podxl2	C	T	6: 88,849,605	V240M	probably benign	Het
Ppp2r5e	C	G	12: 75,469,567	A239P	probably damaging	Het
Prss53	T	C	7: 127,886,262	*553W	probably null	Het
Psma3	T	A	12: 70,984,694	M43K	probably benign	Het
Rad50	G	T	11: 53,680,061	T790K	probably benign	Het
Rasgrf1	G	T	9: 89,953,913	Q231H	probably damaging	Het
Rpn1	T	A	6: 88,093,859	V237E	probably damaging	Het
Scn10a	T	A	9: 119,609,998	M1601L	probably damaging	Het
Sema4f	G	T	6: 82,930,927	P180Q	probably damaging	Het
Sgcg	C	T	14: 61,232,412	V167I	possibly damaging	Het
Slc25a13	C	T	6: 6,109,262	V367M	probably damaging	Het
Spata31	T	C	13: 64,920,610	S191P	probably benign	Het
Srbd1	A	G	17: 86,102,893	V537A	probably damaging	Het
Srgap1	G	T	10: 121,925,903	D113E	possibly damaging	Het
Srl	A	G	16: 4,492,350	I505T	probably damaging	Het
St14	G	A	9: 31,106,212	T226I	probably benign	Het
Stard9	T	A	2: 120,698,656	I1798N	possibly damaging	Het
Sugp1	A	G	8: 70,056,575	E166G	possibly damaging	Het
Susd1	A	T	4: 59,351,695	N455K	possibly damaging	Het
Sytl3	T	A	17: 6,733,046	V205E	probably damaging	Het
Tenm4	A	G	7: 96,895,326	Y2183C	probably damaging	Het
Tktl2	G	A	8: 66,512,347	V186M	probably damaging	Het
Tlr1	T	G	5: 64,925,438	T599P	possibly damaging	Het
Trpc6	G	A	9: 8,656,545	D658N	probably damaging	Het
Ttc39b	A	G	4: 83,232,720	V546A	possibly damaging	Het
Ube3c	T	C	5: 29,619,659	Y561H	probably damaging	Het
Vmn1r29	T	A	6: 58,307,420	S42T	probably benign	Het
Vps4a	T	C	8: 107,044,558	V392A	probably benign	Het
Wdfy4	T	C	14: 33,133,344	E771G	probably benign	Het
Whrn	G	A	4: 63,415,639	Q415*	probably null	Het
Wnt5a	C	T	14: 28,511,845	P10L	probably benign	Het
Zfhx2	T	C	14: 55,075,238		probably benign	Het
Zfp451	T	C	1: 33,777,822	K132R	probably damaging	Het

Other mutations in Serpinb5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02237:Serpinb5	APN	1	106880326	missense	probably benign	0.01
R1385:Serpinb5	UTSW	1	106876123	missense	probably damaging	1.00
R1480:Serpinb5	UTSW	1	106881707	missense	probably benign
R1497:Serpinb5	UTSW	1	106876052	missense	probably benign	0.08
R1503:Serpinb5	UTSW	1	106870289	missense	possibly damaging	0.76
R2400:Serpinb5	UTSW	1	106881952	missense	probably damaging	0.98
R2567:Serpinb5	UTSW	1	106875146	missense	probably benign	0.33
R2923:Serpinb5	UTSW	1	106876040	missense	probably benign
R3148:Serpinb5	UTSW	1	106881825	missense	probably damaging	1.00
R3820:Serpinb5	UTSW	1	106875072	nonsense	probably null
R4667:Serpinb5	UTSW	1	106872295	missense	probably benign	0.00
R4814:Serpinb5	UTSW	1	106872339	missense	probably damaging	1.00
R4815:Serpinb5	UTSW	1	106872339	missense	probably damaging	1.00
R4816:Serpinb5	UTSW	1	106872339	missense	probably damaging	1.00
R4817:Serpinb5	UTSW	1	106872339	missense	probably damaging	1.00
R5369:Serpinb5	UTSW	1	106881757	missense	possibly damaging	0.85
R6108:Serpinb5	UTSW	1	106881728	missense	probably damaging	1.00
R6222:Serpinb5	UTSW	1	106870340	missense	probably benign	0.09
R6251:Serpinb5	UTSW	1	106875065	missense	possibly damaging	0.96
R6349:Serpinb5	UTSW	1	106881765	missense	probably benign	0.44
R6936:Serpinb5	UTSW	1	106870418	missense	probably benign	0.00
R6977:Serpinb5	UTSW	1	106872347	missense	probably benign	0.20
R7332:Serpinb5	UTSW	1	106872361	missense	probably benign	0.00
R7369:Serpinb5	UTSW	1	106875149	missense	probably benign	0.29
R7443:Serpinb5	UTSW	1	106881970	missense	probably benign	0.00
R7499:Serpinb5	UTSW	1	106872389	critical splice donor site	probably null
R7724:Serpinb5	UTSW	1	106875142	missense	probably damaging	0.98
R8425:Serpinb5	UTSW	1	106881785	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- TGGTTACAGAGGGATCCACTG -3'
(R):5'- GGCCAAGACTTCCTGACAATC -3'

Sequencing Primer
(F):5'- CTGCTGGAGTGAACAAGCTTGC -3'
(R):5'- AAGACTTCCTGACAATCCGGTGG -3'

Posted On

2014-07-14