Mutagenetix > Incidental Mutation

Incidental Mutation 'R1898:Serpinb3b'

212097

Institutional Source

Beutler Lab

Gene Symbol

Serpinb3b

Ensembl Gene

ENSMUSG00000073602

Gene Name

serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 3B

Synonyms

Scca2-rs

MMRRC Submission

039918-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R1898 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107081691-107088844 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107082317 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 316 (S316G)

Ref Sequence

ENSEMBL: ENSMUSP00000132370 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086694] [ENSMUST00000166100]

AlphaFold

Q9D1Q5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000086694
AA Change: S316G

PolyPhen 2 Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000083901
Gene: ENSMUSG00000073602
AA Change: S316G

Domain	Start	End	E-Value	Type
SERPIN	13	387	4.75e-181	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166100
AA Change: S316G

PolyPhen 2 Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000132370
Gene: ENSMUSG00000073602
AA Change: S316G

Domain	Start	End	E-Value	Type
SERPIN	13	387	4.75e-181	SMART

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.3%
20x: 92.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	C	A	4: 53,071,977 (GRCm39)	R1195L	probably benign	Het
Abca14	A	G	7: 119,850,392 (GRCm39)	Y748C	probably damaging	Het
Abca6	A	G	11: 110,099,625 (GRCm39)	F974S	probably damaging	Het
Acyp1	T	C	12: 85,335,114 (GRCm39)	K2E	probably benign	Het
Ahcy	T	A	2: 154,904,173 (GRCm39)	S355C	probably benign	Het
AI182371	A	G	2: 34,990,661 (GRCm39)	V12A	probably damaging	Het
Ankrd36	T	C	11: 5,525,683 (GRCm39)	I215T	probably benign	Het
Aox1	C	T	1: 58,117,601 (GRCm39)	R828C	probably damaging	Het
Atp1a4	T	A	1: 172,062,615 (GRCm39)	I631F	probably damaging	Het
Brd10	T	C	19: 29,712,532 (GRCm39)	N789S	possibly damaging	Het
Brinp3	T	G	1: 146,776,987 (GRCm39)	V478G	possibly damaging	Het
Cadm2	G	A	16: 66,612,271 (GRCm39)	S106L	probably damaging	Het
Celf2	C	T	2: 6,608,975 (GRCm39)	V95M	probably damaging	Het
Chka	A	T	19: 3,942,205 (GRCm39)	E404D	probably damaging	Het
Clec5a	A	C	6: 40,558,870 (GRCm39)	V72G	probably benign	Het
Cnn1	T	C	9: 22,012,560 (GRCm39)		probably null	Het
Coq6	A	G	12: 84,413,737 (GRCm39)	E89G	probably benign	Het
Cpne6	A	T	14: 55,754,485 (GRCm39)	I538F	possibly damaging	Het
Crx	G	A	7: 15,602,148 (GRCm39)	P177S	probably damaging	Het
Cysltr2	G	T	14: 73,266,973 (GRCm39)	P246T	probably damaging	Het
Decr1	A	G	4: 15,929,801 (GRCm39)	I164T	probably damaging	Het
Dmtf1	A	T	5: 9,178,091 (GRCm39)	V315E	probably damaging	Het
Dnah7b	A	G	1: 46,275,874 (GRCm39)	N2587S	probably benign	Het
E2f6	C	A	12: 16,874,581 (GRCm39)	T221K	probably benign	Het
Fat3	T	G	9: 15,871,426 (GRCm39)	D3655A	probably damaging	Het
Fbxw28	G	A	9: 109,152,452 (GRCm39)	T384I	probably benign	Het
Fes	T	A	7: 80,029,659 (GRCm39)	I608F	probably damaging	Het
Flnc	G	A	6: 29,438,665 (GRCm39)	W186*	probably null	Het
Gabrb2	A	G	11: 42,484,659 (GRCm39)	K239E	possibly damaging	Het
Gen1	T	C	12: 11,291,609 (GRCm39)	R727G	probably benign	Het
Glb1	T	A	9: 114,253,103 (GRCm39)	V184E	probably damaging	Het
Gngt1	A	T	6: 3,996,724 (GRCm39)	I57F	possibly damaging	Het
Ice1	T	C	13: 70,750,426 (GRCm39)	I87V	possibly damaging	Het
Itih1	A	G	14: 30,654,244 (GRCm39)	Y674H	probably benign	Het
Itsn1	T	A	16: 91,696,468 (GRCm39)	C24S	probably damaging	Het
Loxl1	A	G	9: 58,204,961 (GRCm39)	V418A	probably damaging	Het
Myh10	A	G	11: 68,662,732 (GRCm39)	N595S	probably damaging	Het
Myo5c	C	T	9: 75,204,908 (GRCm39)	T1587I	probably damaging	Het
Npat	T	A	9: 53,474,937 (GRCm39)	F910I	probably damaging	Het
Nradd	T	C	9: 110,450,676 (GRCm39)	Y167C	probably damaging	Het
Nt5dc1	T	C	10: 34,189,631 (GRCm39)	E352G	probably benign	Het
Numa1	T	C	7: 101,641,927 (GRCm39)		probably null	Het
Odc1	T	A	12: 17,598,842 (GRCm39)	S241T	probably damaging	Het
Or11g2	A	T	14: 50,856,231 (GRCm39)	D184V	probably damaging	Het
Or14j7	A	T	17: 38,234,516 (GRCm39)	N20Y	possibly damaging	Het
Pcnx3	T	C	19: 5,722,615 (GRCm39)	D951G	probably damaging	Het
Pigg	T	C	5: 108,484,408 (GRCm39)	F685L	probably benign	Het
Pnpla7	T	A	2: 24,943,796 (GRCm39)		probably benign	Het
Pramel16	C	T	4: 143,677,298 (GRCm39)	V94M	probably damaging	Het
Rcsd1	C	T	1: 165,486,998 (GRCm39)	A72T	probably benign	Het
Rp1l1	A	T	14: 64,269,039 (GRCm39)	T1542S	probably benign	Het
Sct	A	T	7: 140,858,761 (GRCm39)	L57Q	probably damaging	Het
Shprh	T	C	10: 11,062,613 (GRCm39)	L1240S	probably damaging	Het
Slc4a1	C	T	11: 102,241,133 (GRCm39)	E924K	probably damaging	Het
Sp7	A	T	15: 102,267,453 (GRCm39)	Y118N	possibly damaging	Het
Srebf2	A	G	15: 82,087,936 (GRCm39)	T219A	probably damaging	Het
Tenm3	G	T	8: 48,763,796 (GRCm39)	P753T	probably damaging	Het
Tonsl	A	T	15: 76,523,053 (GRCm39)		probably null	Het
Trio	A	T	15: 27,742,466 (GRCm39)	S2675T	possibly damaging	Het
Tspan12	T	C	6: 21,795,693 (GRCm39)	T166A	probably damaging	Het
Ttll4	A	G	1: 74,736,641 (GRCm39)	D1122G	probably benign	Het
Vmn1r77	G	A	7: 11,775,550 (GRCm39)	A41T	probably damaging	Het
Xpo7	A	T	14: 70,933,064 (GRCm39)	F276Y	probably benign	Het
Zdhhc1	A	T	8: 106,205,378 (GRCm39)		probably null	Het
Zfp319	C	A	8: 96,055,417 (GRCm39)	C262F	probably damaging	Het
Zfp442	C	T	2: 150,250,582 (GRCm39)	C383Y	probably damaging	Het
Zfp57	G	T	17: 37,320,650 (GRCm39)	R168L	possibly damaging	Het

Other mutations in Serpinb3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00504:Serpinb3b	APN	1	107,085,411 (GRCm39)	missense	probably benign	0.20
IGL00543:Serpinb3b	APN	1	107,085,396 (GRCm39)	critical splice donor site	probably null
IGL00846:Serpinb3b	APN	1	107,083,579 (GRCm39)	missense	probably damaging	1.00
IGL00851:Serpinb3b	APN	1	107,087,435 (GRCm39)	missense	probably damaging	1.00
IGL01017:Serpinb3b	APN	1	107,082,187 (GRCm39)	missense	probably benign	0.31
IGL01083:Serpinb3b	APN	1	107,085,473 (GRCm39)	missense	possibly damaging	0.57
IGL01300:Serpinb3b	APN	1	107,083,573 (GRCm39)	critical splice donor site	probably benign
IGL01306:Serpinb3b	APN	1	107,082,395 (GRCm39)	missense	probably damaging	1.00
IGL01604:Serpinb3b	APN	1	107,082,454 (GRCm39)	missense	probably benign	0.00
IGL01936:Serpinb3b	APN	1	107,082,368 (GRCm39)	missense	probably benign	0.13
IGL02125:Serpinb3b	APN	1	107,082,474 (GRCm39)	missense	probably damaging	1.00
IGL03185:Serpinb3b	APN	1	107,084,662 (GRCm39)	missense	probably benign	0.01
ANU23:Serpinb3b	UTSW	1	107,082,395 (GRCm39)	missense	probably damaging	1.00
R0329:Serpinb3b	UTSW	1	107,087,433 (GRCm39)	missense	probably damaging	1.00
R0330:Serpinb3b	UTSW	1	107,087,433 (GRCm39)	missense	probably damaging	1.00
R1465:Serpinb3b	UTSW	1	107,083,573 (GRCm39)	critical splice donor site	probably null
R1465:Serpinb3b	UTSW	1	107,083,573 (GRCm39)	critical splice donor site	probably null
R1635:Serpinb3b	UTSW	1	107,082,403 (GRCm39)	missense	probably benign	0.16
R1713:Serpinb3b	UTSW	1	107,083,164 (GRCm39)	missense	probably benign	0.00
R2252:Serpinb3b	UTSW	1	107,083,208 (GRCm39)	missense	possibly damaging	0.71
R3430:Serpinb3b	UTSW	1	107,082,425 (GRCm39)	missense	probably benign	0.21
R4382:Serpinb3b	UTSW	1	107,083,273 (GRCm39)	missense	probably damaging	0.97
R4741:Serpinb3b	UTSW	1	107,082,200 (GRCm39)	missense	probably benign	0.01
R4855:Serpinb3b	UTSW	1	107,082,270 (GRCm39)	missense	possibly damaging	0.59
R4974:Serpinb3b	UTSW	1	107,082,445 (GRCm39)	missense	probably benign	0.01
R4982:Serpinb3b	UTSW	1	107,085,484 (GRCm39)	missense	probably benign	0.03
R5519:Serpinb3b	UTSW	1	107,087,506 (GRCm39)	start codon destroyed	probably null	1.00
R6846:Serpinb3b	UTSW	1	107,082,403 (GRCm39)	missense	probably benign	0.16
R7815:Serpinb3b	UTSW	1	107,084,625 (GRCm39)	missense	probably damaging	1.00
R7860:Serpinb3b	UTSW	1	107,085,467 (GRCm39)	missense	probably damaging	1.00
R9720:Serpinb3b	UTSW	1	107,083,669 (GRCm39)	missense	probably benign
R9746:Serpinb3b	UTSW	1	107,082,403 (GRCm39)	missense	possibly damaging	0.88
R9773:Serpinb3b	UTSW	1	107,085,416 (GRCm39)	missense	possibly damaging	0.54
Z1088:Serpinb3b	UTSW	1	107,085,481 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTTAAGGGGAGCAGATTCTG -3'
(R):5'- GCTTGAAGAACAACTCACTACTGAC -3'

Sequencing Primer
(F):5'- AAGAAGAGGATGCTGTTGGTCATTC -3'
(R):5'- TCACTACTGACAAATTACTAGAGTGG -3'

Posted On

2014-06-30