Mutagenetix > Incidental Mutation

Incidental Mutation 'R0308:Serpinb6b'

24994

Institutional Source

Beutler Lab

Gene Symbol

Serpinb6b

Ensembl Gene

ENSMUSG00000042842

Gene Name

serine (or cysteine) peptidase inhibitor, clade B, member 6b

Synonyms

NK13, ovalbumin, Spi12

MMRRC Submission

038518-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R0308 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32965209-32979067 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 32978237 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 221 (N221Y)

Ref Sequence

ENSEMBL: ENSMUSP00000152419 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017184] [ENSMUST00000110293] [ENSMUST00000164541]

AlphaFold

O08804

Predicted Effect

probably benign
Transcript: ENSMUST00000017184

SMART Domains

Protein: ENSMUSP00000017184
Gene: ENSMUSG00000042842

Domain	Start	End	E-Value	Type
SERPIN	13	208	1.22e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110293
AA Change: N340Y

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000105922
Gene: ENSMUSG00000042842
AA Change: N340Y

Domain	Start	End	E-Value	Type
SERPIN	13	377	1.99e-174	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000164541
AA Change: N221Y

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 95.1%
20x: 89.5%

Validation Efficiency

100% (82/82)

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	A	T	4: 39,450,989 (GRCm38)	D65V	probably damaging	Het
4933407L21Rik	A	T	1: 85,931,286 (GRCm38)		probably benign	Het
Abcc12	C	T	8: 86,557,752 (GRCm38)		probably benign	Het
Adamts12	A	G	15: 11,311,560 (GRCm38)	E1301G	probably damaging	Het
Adh4	A	T	3: 138,424,102 (GRCm38)	N230Y	probably damaging	Het
Anapc15-ps	T	A	10: 95,673,092 (GRCm38)	M109L	probably benign	Het
Angpt2	T	C	8: 18,692,125 (GRCm38)	I472V	possibly damaging	Het
Arhgef26	C	A	3: 62,340,399 (GRCm38)	D301E	probably benign	Het
Armc10	G	A	5: 21,647,297 (GRCm38)		probably benign	Het
Arntl	A	T	7: 113,291,536 (GRCm38)	I179F	probably damaging	Het
Atm	T	C	9: 53,454,473 (GRCm38)		probably null	Het
Atp5b	T	C	10: 128,086,039 (GRCm38)	V265A	probably benign	Het
Atp8b1	G	T	18: 64,545,244 (GRCm38)	C860*	probably null	Het
Atrnl1	T	G	19: 57,753,288 (GRCm38)	S1160A	probably benign	Het
Cep55	A	G	19: 38,060,211 (GRCm38)	E105G	possibly damaging	Het
Cfap54	C	A	10: 92,885,364 (GRCm38)	D2502Y	unknown	Het
Cilp2	A	G	8: 69,882,993 (GRCm38)	S452P	probably benign	Het
Clptm1l	A	G	13: 73,611,667 (GRCm38)	D282G	possibly damaging	Het
Csrp1	C	A	1: 135,745,286 (GRCm38)	T47N	probably damaging	Het
Cyp2c40	T	A	19: 39,777,988 (GRCm38)	I388F	probably damaging	Het
Dars	C	T	1: 128,364,259 (GRCm38)	R494H	probably damaging	Het
Dna2	T	C	10: 62,956,974 (GRCm38)	V256A	probably damaging	Het
Dock7	T	C	4: 98,984,814 (GRCm38)	T1132A	probably benign	Het
Elk3	A	T	10: 93,265,205 (GRCm38)	M228K	probably benign	Het
Erich6	A	G	3: 58,636,104 (GRCm38)	F182L	probably damaging	Het
Fhad1	A	G	4: 141,985,593 (GRCm38)		probably benign	Het
Fryl	A	T	5: 73,041,604 (GRCm38)		probably benign	Het
Fzd9	A	T	5: 135,249,406 (GRCm38)	C542S	probably damaging	Het
Gba	A	G	3: 89,208,364 (GRCm38)	T460A	probably benign	Het
Gli2	C	T	1: 118,842,062 (GRCm38)	A587T	probably benign	Het
Gm10037	A	G	13: 67,843,113 (GRCm38)		probably benign	Het
Gm11011	C	T	2: 169,582,694 (GRCm38)		probably benign	Het
Gm17018	T	G	19: 45,577,006 (GRCm38)	F140V	probably damaging	Het
Gm9745	T	G	13: 8,940,841 (GRCm38)		probably benign	Het
Gmppb	A	G	9: 108,049,834 (GRCm38)	E68G	probably benign	Het
Gpld1	A	G	13: 24,962,835 (GRCm38)	N260S	possibly damaging	Het
Hipk3	G	A	2: 104,433,207 (GRCm38)	S900L	probably damaging	Het
Ints6l	A	T	X: 56,481,355 (GRCm38)	M215L	possibly damaging	Het
Irx6	T	A	8: 92,677,031 (GRCm38)	L128Q	probably damaging	Het
Itga10	T	C	3: 96,651,464 (GRCm38)	S373P	probably damaging	Het
Jak1	T	C	4: 101,154,535 (GRCm38)		probably null	Het
Jak2	C	T	19: 29,311,757 (GRCm38)	T1103I	probably benign	Het
Katnal1	A	T	5: 148,878,924 (GRCm38)	V401D	possibly damaging	Het
Lrp2	T	A	2: 69,482,982 (GRCm38)		probably benign	Het
Map3k13	A	G	16: 21,891,988 (GRCm38)	H7R	probably benign	Het
Mrgprx3-ps	A	G	7: 47,310,018 (GRCm38)	V75A	probably benign	Het
Nol6	C	T	4: 41,123,584 (GRCm38)	A55T	probably benign	Het
Olfr881	A	G	9: 37,992,845 (GRCm38)	I118V	probably benign	Het
Opa1	G	A	16: 29,621,531 (GRCm38)	R818Q	probably damaging	Het
Opn4	T	C	14: 34,597,124 (GRCm38)	Y168C	possibly damaging	Het
Phf21a	T	C	2: 92,330,777 (GRCm38)	V330A	possibly damaging	Het
Phykpl	A	G	11: 51,593,596 (GRCm38)		probably benign	Het
Plcb1	T	G	2: 134,813,614 (GRCm38)	V38G	probably benign	Het
Plxna4	T	A	6: 32,237,768 (GRCm38)	T593S	probably benign	Het
Poll	A	T	19: 45,555,965 (GRCm38)	I339N	probably damaging	Het
Rev3l	A	G	10: 39,824,894 (GRCm38)	I1796V	probably benign	Het
Rnf103	G	A	6: 71,509,702 (GRCm38)	R439H	probably damaging	Het
Rrn3	G	A	16: 13,799,882 (GRCm38)		probably benign	Het
Sec14l4	G	A	11: 4,041,726 (GRCm38)		probably benign	Het
Sec23a	A	C	12: 59,007,199 (GRCm38)	Y4*	probably null	Het
Senp6	T	C	9: 80,132,983 (GRCm38)		probably null	Het
Slc6a2	A	G	8: 92,961,360 (GRCm38)	E38G	possibly damaging	Het
Smap1	A	T	1: 23,849,342 (GRCm38)	L196I	probably damaging	Het
Sorbs2	C	T	8: 45,795,130 (GRCm38)	Q473*	probably null	Het
Sphkap	C	A	1: 83,276,969 (GRCm38)	V1020F	probably damaging	Het
Srfbp1	T	C	18: 52,488,542 (GRCm38)	V225A	probably benign	Het
Srprb	G	A	9: 103,202,005 (GRCm38)	P728S	possibly damaging	Het
Tarm1	T	C	7: 3,496,671 (GRCm38)		probably benign	Het
Tcp1	T	A	17: 12,920,419 (GRCm38)	I162N	probably benign	Het
Tmem237	C	A	1: 59,107,517 (GRCm38)	A292S	probably damaging	Het
Tnfrsf21	C	T	17: 43,038,213 (GRCm38)	H239Y	probably benign	Het
Tnpo1	A	G	13: 98,846,503 (GRCm38)	F884L	probably damaging	Het
Trim7	A	G	11: 48,849,501 (GRCm38)	T142A	probably damaging	Het
Ttn	T	A	2: 76,785,680 (GRCm38)	I14894F	probably damaging	Het
Tubgcp6	T	C	15: 89,122,436 (GRCm38)	R128G	possibly damaging	Het
Ube2d2b	A	G	5: 107,830,908 (GRCm38)	T142A	possibly damaging	Het
Unc13c	G	T	9: 73,481,118 (GRCm38)	L2129I	probably benign	Het
Ushbp1	T	C	8: 71,391,053 (GRCm38)	D247G	probably damaging	Het
Usp43	G	A	11: 67,880,140 (GRCm38)	A556V	probably damaging	Het
Zfp438	T	A	18: 5,213,638 (GRCm38)	H440L	probably benign	Het
Zfp518b	C	T	5: 38,672,770 (GRCm38)	E631K	possibly damaging	Het

Other mutations in Serpinb6b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00719:Serpinb6b	APN	13	32,971,546 (GRCm38)	missense	probably benign	0.01
IGL01077:Serpinb6b	APN	13	32,978,066 (GRCm38)	missense	possibly damaging	0.68
IGL01553:Serpinb6b	APN	13	32,974,948 (GRCm38)	missense	probably damaging	1.00
IGL02981:Serpinb6b	APN	13	32,971,606 (GRCm38)	missense	probably benign	0.34
R1568:Serpinb6b	UTSW	13	32,974,912 (GRCm38)	missense	probably damaging	1.00
R1692:Serpinb6b	UTSW	13	32,974,995 (GRCm38)	missense	probably damaging	1.00
R1763:Serpinb6b	UTSW	13	32,978,058 (GRCm38)	missense	probably damaging	1.00
R1917:Serpinb6b	UTSW	13	32,978,240 (GRCm38)	missense	probably benign
R1918:Serpinb6b	UTSW	13	32,978,240 (GRCm38)	missense	probably benign
R1919:Serpinb6b	UTSW	13	32,978,240 (GRCm38)	missense	probably benign
R1920:Serpinb6b	UTSW	13	32,975,008 (GRCm38)	missense	possibly damaging	0.47
R3032:Serpinb6b	UTSW	13	32,968,568 (GRCm38)	missense	possibly damaging	0.78
R4239:Serpinb6b	UTSW	13	32,972,263 (GRCm38)	missense	probably damaging	0.96
R5089:Serpinb6b	UTSW	13	32,978,150 (GRCm38)	missense	probably benign
R5503:Serpinb6b	UTSW	13	32,977,659 (GRCm38)	missense	possibly damaging	0.95
R5540:Serpinb6b	UTSW	13	32,977,558 (GRCm38)	nonsense	probably null
R6061:Serpinb6b	UTSW	13	32,977,994 (GRCm38)	missense	probably damaging	0.99
R6253:Serpinb6b	UTSW	13	32,972,272 (GRCm38)	missense	probably damaging	1.00
R7156:Serpinb6b	UTSW	13	32,971,615 (GRCm38)	missense	probably benign	0.09
R7248:Serpinb6b	UTSW	13	32,977,576 (GRCm38)	missense	probably benign	0.23
R7315:Serpinb6b	UTSW	13	32,972,257 (GRCm38)	missense	probably benign	0.41
R7424:Serpinb6b	UTSW	13	32,968,667 (GRCm38)	missense	probably damaging	0.99
R7547:Serpinb6b	UTSW	13	32,974,924 (GRCm38)	missense	probably benign	0.05
R7732:Serpinb6b	UTSW	13	32,968,607 (GRCm38)	missense	probably damaging	1.00
R7770:Serpinb6b	UTSW	13	32,977,529 (GRCm38)	missense	probably benign	0.05
R7802:Serpinb6b	UTSW	13	32,971,596 (GRCm38)
R8814:Serpinb6b	UTSW	13	32,978,304 (GRCm38)	missense	possibly damaging	0.94
R8966:Serpinb6b	UTSW	13	32,978,052 (GRCm38)	missense	probably damaging	1.00
R8988:Serpinb6b	UTSW	13	32,978,142 (GRCm38)	missense	probably benign	0.45
R9037:Serpinb6b	UTSW	13	32,978,015 (GRCm38)	nonsense	probably null
R9129:Serpinb6b	UTSW	13	32,978,156 (GRCm38)	small deletion	probably benign
R9377:Serpinb6b	UTSW	13	32,968,511 (GRCm38)	start codon destroyed	probably null	1.00
R9415:Serpinb6b	UTSW	13	32,975,019 (GRCm38)	missense
R9632:Serpinb6b	UTSW	13	32,971,549 (GRCm38)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- ACTTCCCTGGGCATACAGAGTCTC -3'
(R):5'- ACAGAAGCCCCAACTATGTTCTGC -3'

Sequencing Primer
(F):5'- GGCATACAGAGTCTCCCTCAG -3'
(R):5'- tgcatgatctctgattctctcac -3'

Posted On

2013-04-16