Mutagenetix > Incidental Mutation

Incidental Mutation 'R4741:Serpinb3b'

358058

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

042026-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R4741 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107081691-107088844 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 107082200 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 355 (Q355K)

Ref Sequence

ENSEMBL: ENSMUSP00000132370 (fasta)

Gene Model

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

AlphaFold

Q9D1Q5

Predicted Effect

probably benign
Transcript: ENSMUST00000086694
AA Change: Q355K

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000083901
Gene: ENSMUSG00000073602
AA Change: Q355K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000166100
AA Change: Q355K

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000132370
Gene: ENSMUSG00000073602
AA Change: Q355K

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Angptl2	T	C	2: 33,136,200 (GRCm39)	Y462H	probably benign	Het
Arhgef12	A	G	9: 42,883,449 (GRCm39)	I1360T	possibly damaging	Het
Armc10	T	G	5: 21,856,834 (GRCm39)	L111R	probably damaging	Het
Atm	T	C	9: 53,364,907 (GRCm39)	K2628E	probably benign	Het
Best3	A	T	10: 116,859,901 (GRCm39)	N387I	probably benign	Het
Bltp1	A	G	3: 36,996,524 (GRCm39)	T1079A	probably damaging	Het
Brpf3	T	C	17: 29,036,758 (GRCm39)	F721S	possibly damaging	Het
Cacna1c	A	G	6: 118,590,271 (GRCm39)	S1411P	probably damaging	Het
Cldn8	G	A	16: 88,359,296 (GRCm39)	H210Y	probably benign	Het
Clip2	T	A	5: 134,545,123 (GRCm39)	T344S	probably benign	Het
Csmd1	A	C	8: 15,960,447 (GRCm39)	W3323G	probably damaging	Het
Doc2a	A	T	7: 126,450,617 (GRCm39)	T298S	possibly damaging	Het
Dpp9	T	C	17: 56,512,286 (GRCm39)	N234S	probably benign	Het
Dtx2	C	T	5: 136,055,371 (GRCm39)	R353C	probably benign	Het
Epm2aip1	A	G	9: 111,101,681 (GRCm39)	H218R	probably benign	Het
F2rl1	G	A	13: 95,650,651 (GRCm39)	T77M	probably damaging	Het
Fsd2	A	G	7: 81,201,643 (GRCm39)		probably null	Het
Grin2a	T	C	16: 9,481,376 (GRCm39)	Y475C	probably damaging	Het
H2-Ob	T	A	17: 34,461,545 (GRCm39)	S95T	possibly damaging	Het
Hddc3	A	G	7: 79,995,464 (GRCm39)	T160A	probably benign	Het
Hp	A	T	8: 110,302,104 (GRCm39)	C281*	probably null	Het
Ighg1	T	C	12: 113,290,178 (GRCm39)		probably benign	Het
Ints7	A	G	1: 191,351,747 (GRCm39)	I819V	probably benign	Het
Jam2	G	A	16: 84,609,840 (GRCm39)	V151M	probably damaging	Het
Jmjd1c	A	G	10: 67,060,718 (GRCm39)	I737V	possibly damaging	Het
Krt74	C	T	15: 101,669,876 (GRCm39)		noncoding transcript	Het
Lnpep	T	C	17: 17,791,920 (GRCm39)	Y407C	probably damaging	Het
Lrp4	T	G	2: 91,341,912 (GRCm39)	C1842G	probably damaging	Het
Mug2	T	A	6: 122,056,572 (GRCm39)	N1172K	probably benign	Het
Npy6r	A	T	18: 44,408,791 (GRCm39)	T71S	probably damaging	Het
Nsd3	A	T	8: 26,163,382 (GRCm39)	I591F	probably damaging	Het
Oog2	A	C	4: 143,921,715 (GRCm39)	E208D	possibly damaging	Het
Otogl	A	G	10: 107,615,121 (GRCm39)	I1928T	probably benign	Het
Papss1	T	C	3: 131,324,860 (GRCm39)	L418P	probably damaging	Het
Pcdhb13	T	A	18: 37,576,571 (GRCm39)	D316E	probably benign	Het
Pcdhgb2	T	A	18: 37,824,737 (GRCm39)		probably null	Het
Ptcd3	T	A	6: 71,879,933 (GRCm39)	L108F	probably damaging	Het
Ralgps1	T	C	2: 33,226,599 (GRCm39)	S31G	probably benign	Het
Rnf225	A	T	7: 12,661,857 (GRCm39)	H12L	probably benign	Het
Ryr3	T	A	2: 112,633,613 (GRCm39)	M2047L	probably damaging	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Slc8a2	T	A	7: 15,868,233 (GRCm39)	F155Y	probably damaging	Het
Taf1c	A	G	8: 120,330,134 (GRCm39)		probably benign	Het
Tln2	A	G	9: 67,293,837 (GRCm39)		probably null	Het
Tmpo	A	G	10: 90,998,506 (GRCm39)	V427A	probably benign	Het
Vmn1r17	A	T	6: 57,338,337 (GRCm39)	Y9*	probably null	Het
Vmn2r63	C	T	7: 42,577,544 (GRCm39)	M331I	probably benign	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 106,210,376 (GRCm39)		probably null	Het
Zfand5	C	T	19: 21,253,845 (GRCm39)	T16I	probably damaging	Het
Zfp352	A	T	4: 90,113,177 (GRCm39)	K439M	possibly damaging	Het
Zfp786	G	A	6: 47,797,625 (GRCm39)	H438Y	probably damaging	Het
Zfp808	T	A	13: 62,319,763 (GRCm39)	C331S	probably 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
R1898:Serpinb3b	UTSW	1	107,082,317 (GRCm39)	missense	possibly damaging	0.85
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
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'- CTAATGCATTCTTAGCAGGGACTTG -3'
(R):5'- AACACATGGGGATGGTCGAC -3'

Sequencing Primer
(F):5'- CATTCTTAGCAGGGACTTGGATATG -3'
(R):5'- GACGCCTTTGATCCACAGAAGG -3'

Posted On

2015-11-11