Mutagenetix > Incidental Mutation

Incidental Mutation 'R9643:Serpinb6c'

726680

Institutional Source

Beutler Lab

Gene Symbol

Serpinb6c

Ensembl Gene

ENSMUSG00000052180

Gene Name

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

Synonyms

Spi3C, SPIC, ovalbumin

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.153) question?

Stock #

R9643 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34063799-34089691 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34079303 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 130 (T130A)

Ref Sequence

ENSEMBL: ENSMUSP00000127619 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110273] [ENSMUST00000172184] [ENSMUST00000222216]

AlphaFold

W4VSP4

Predicted Effect

probably benign
Transcript: ENSMUST00000110273
AA Change: T130A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000105902
Gene: ENSMUSG00000052180
AA Change: T130A

Domain	Start	End	E-Value	Type
SERPIN	13	378	7.5e-170	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000172184
AA Change: T130A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000127619
Gene: ENSMUSG00000052180
AA Change: T130A

Domain	Start	End	E-Value	Type
SERPIN	14	379	7.5e-170	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000222216
AA Change: T130A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	G	12: 71,211,189 (GRCm39)	D641G	possibly damaging	Het
4921539E11Rik	T	C	4: 103,092,666 (GRCm39)	E272G	unknown	Het
Abca16	C	T	7: 120,065,023 (GRCm39)	T560I	possibly damaging	Het
Adcy3	A	G	12: 4,259,455 (GRCm39)	R911G	probably damaging	Het
Adgra2	A	G	8: 27,612,031 (GRCm39)	T1327A	possibly damaging	Het
Aldh9a1	T	C	1: 167,184,904 (GRCm39)	V272A	possibly damaging	Het
Ankfn1	T	A	11: 89,396,167 (GRCm39)	H193L	probably benign	Het
Asb1	A	G	1: 91,480,116 (GRCm39)	R280G	probably benign	Het
Atg14	G	T	14: 47,788,780 (GRCm39)	A191E	probably damaging	Het
Bcl9	G	T	3: 97,112,960 (GRCm39)	P1165Q	possibly damaging	Het
Cdk8	G	A	5: 146,235,664 (GRCm39)	A264T	probably damaging	Het
Cep152	G	A	2: 125,406,150 (GRCm39)	Q1461*	probably null	Het
Cep170b	G	T	12: 112,704,045 (GRCm39)	W659L	probably damaging	Het
Cep57l1	T	C	10: 41,597,626 (GRCm39)	E335G	probably damaging	Het
Cpt1b	T	A	15: 89,303,229 (GRCm39)	T609S	possibly damaging	Het
Cyp2c50	A	T	19: 40,086,512 (GRCm39)	I359F	probably damaging	Het
Dpf1	T	A	7: 29,013,742 (GRCm39)	N272K	probably damaging	Het
Fsip2	A	G	2: 82,821,984 (GRCm39)	T5906A	possibly damaging	Het
Gin1	A	T	1: 97,712,498 (GRCm39)	R220S	probably benign	Het
Gm30083	T	C	14: 33,736,861 (GRCm39)	Y32C	probably benign	Het
Gm45861	A	G	8: 27,994,083 (GRCm39)	E445G	unknown	Het
Golga2	T	C	2: 32,193,874 (GRCm39)	S567P	probably damaging	Het
Gpr89	A	G	3: 96,780,813 (GRCm39)	V353A	probably damaging	Het
Grin2d	T	C	7: 45,506,948 (GRCm39)	K509R	possibly damaging	Het
Hip1r	T	C	5: 124,139,319 (GRCm39)	I904T	probably damaging	Het
Ikbke	T	A	1: 131,187,022 (GRCm39)		probably null	Het
Il1r1	T	A	1: 40,341,532 (GRCm39)	C315S	probably damaging	Het
Ireb2	T	A	9: 54,789,730 (GRCm39)	F135I	possibly damaging	Het
Jakmip3	C	T	7: 138,621,915 (GRCm39)	L272F	probably damaging	Het
Kntc1	T	A	5: 123,949,440 (GRCm39)	F1937Y	probably damaging	Het
Krtap4-16	G	A	11: 99,742,271 (GRCm39)	T43I	unknown	Het
Lats2	A	G	14: 57,936,875 (GRCm39)	V538A	possibly damaging	Het
Megf8	T	A	7: 25,046,907 (GRCm39)	W1597R	probably damaging	Het
Mideas	A	T	12: 84,219,885 (GRCm39)	D356E	probably benign	Het
Mtus2	A	T	5: 148,014,025 (GRCm39)	T273S	probably benign	Het
Nsun6	T	A	2: 15,047,106 (GRCm39)	E81D	probably benign	Het
Or13c7	G	A	4: 43,855,183 (GRCm39)	M291I	probably benign	Het
Or4c125	A	T	2: 89,170,517 (GRCm39)	I43K	probably damaging	Het
Or56a41	A	G	7: 104,740,445 (GRCm39)	F134L	probably benign	Het
Or8c10	A	G	9: 38,278,912 (GRCm39)	I13M	probably damaging	Het
Or8k23	A	G	2: 86,186,408 (GRCm39)	F106S	probably benign	Het
Oxsm	T	C	14: 16,241,000 (GRCm38)	T350A	probably damaging	Het
Pard3	G	A	8: 128,115,900 (GRCm39)	R663Q	possibly damaging	Het
Pcdh15	T	A	10: 74,479,335 (GRCm39)	I482N	probably benign	Het
Pcsk2	G	A	2: 143,655,501 (GRCm39)	D562N	probably damaging	Het
Pdzk1ip1	T	C	4: 114,950,177 (GRCm39)	M146T	probably benign	Het
Plch1	T	A	3: 63,660,747 (GRCm39)	T279S		Het
Plec	C	T	15: 76,058,177 (GRCm39)	R3920Q	probably damaging	Het
Polr2g	A	T	19: 8,774,631 (GRCm39)	V84E	probably damaging	Het
Ppm1m	C	T	9: 106,075,104 (GRCm39)	R147H	probably damaging	Het
Ppp2r2c	G	T	5: 37,080,383 (GRCm39)	V48L	probably damaging	Het
Pramel25	T	A	4: 143,521,855 (GRCm39)	C490*	probably null	Het
Prcp	A	T	7: 92,524,598 (GRCm39)	T18S	probably benign	Het
Rapsn	A	G	2: 90,872,268 (GRCm39)	S201G	probably damaging	Het
Rragd	A	G	4: 33,012,998 (GRCm39)	T332A	probably benign	Het
Scrn2	A	G	11: 96,921,342 (GRCm39)	D34G	probably damaging	Het
Setd1b	G	A	5: 123,298,401 (GRCm39)	G1479D	probably damaging	Het
Shd	T	A	17: 56,283,268 (GRCm39)	L299Q	probably damaging	Het
Slc5a4b	C	T	10: 75,945,896 (GRCm39)	V55I	probably benign	Het
Smg1	C	A	7: 117,755,933 (GRCm39)	R2405L	unknown	Het
Stxbp2	A	T	8: 3,686,392 (GRCm39)	M332L		Het
Tedc2	A	G	17: 24,435,328 (GRCm39)	C354R	probably benign	Het
Tek	A	T	4: 94,692,523 (GRCm39)	R210S	possibly damaging	Het
Tnk2	T	A	16: 32,489,018 (GRCm39)	M286K	probably damaging	Het
Ttc21a	G	A	9: 119,771,686 (GRCm39)	V162I	probably benign	Het
Usf3	T	A	16: 44,042,170 (GRCm39)	C2217S	possibly damaging	Het
Wdr72	C	T	9: 74,118,041 (GRCm39)	P930S	probably damaging	Het
Zan	A	G	5: 137,456,812 (GRCm39)	V1308A	unknown	Het
Zfp521	C	T	18: 13,978,922 (GRCm39)	R497Q	probably damaging	Het
Zfp799	T	A	17: 33,039,435 (GRCm39)	K277M	probably damaging	Het
Zfp949	C	T	9: 88,436,500 (GRCm39)		probably benign	Het

Other mutations in Serpinb6c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00852:Serpinb6c	APN	13	34,081,321 (GRCm39)	splice site	probably null
IGL01900:Serpinb6c	APN	13	34,064,173 (GRCm39)	missense	possibly damaging	0.88
IGL01983:Serpinb6c	APN	13	34,081,317 (GRCm39)	splice site	probably benign
IGL03357:Serpinb6c	APN	13	34,079,369 (GRCm39)	missense	probably benign	0.08
R0208:Serpinb6c	UTSW	13	34,081,379 (GRCm39)	missense	probably benign
R0242:Serpinb6c	UTSW	13	34,083,230 (GRCm39)	splice site	probably benign
R0632:Serpinb6c	UTSW	13	34,064,014 (GRCm39)	missense	possibly damaging	0.86
R0669:Serpinb6c	UTSW	13	34,083,252 (GRCm39)	missense	probably damaging	0.98
R0848:Serpinb6c	UTSW	13	34,083,288 (GRCm39)	missense	probably damaging	1.00
R1657:Serpinb6c	UTSW	13	34,064,209 (GRCm39)	missense	probably benign	0.01
R3911:Serpinb6c	UTSW	13	34,077,888 (GRCm39)	missense	probably benign	0.00
R5135:Serpinb6c	UTSW	13	34,064,080 (GRCm39)	missense	probably damaging	1.00
R5275:Serpinb6c	UTSW	13	34,077,800 (GRCm39)	missense	probably damaging	1.00
R5295:Serpinb6c	UTSW	13	34,077,800 (GRCm39)	missense	probably damaging	1.00
R5700:Serpinb6c	UTSW	13	34,083,291 (GRCm39)	missense	probably damaging	1.00
R7490:Serpinb6c	UTSW	13	34,077,818 (GRCm39)	missense	probably benign	0.04
R7514:Serpinb6c	UTSW	13	34,081,386 (GRCm39)	nonsense	probably null
R7517:Serpinb6c	UTSW	13	34,079,278 (GRCm39)	missense	probably damaging	1.00
R7547:Serpinb6c	UTSW	13	34,077,875 (GRCm39)	missense	possibly damaging	0.80
R7730:Serpinb6c	UTSW	13	34,083,292 (GRCm39)	missense	probably damaging	1.00
R8121:Serpinb6c	UTSW	13	34,064,201 (GRCm39)	missense	probably benign	0.38
R8142:Serpinb6c	UTSW	13	34,064,096 (GRCm39)	missense	probably benign	0.00
R8745:Serpinb6c	UTSW	13	34,064,702 (GRCm39)	missense	probably benign	0.06
R8855:Serpinb6c	UTSW	13	34,083,309 (GRCm39)	missense	probably damaging	1.00
R8866:Serpinb6c	UTSW	13	34,083,309 (GRCm39)	missense	probably damaging	1.00
R9412:Serpinb6c	UTSW	13	34,081,371 (GRCm39)	missense	probably benign	0.00
R9489:Serpinb6c	UTSW	13	34,081,421 (GRCm39)	missense	probably null	0.20
X0063:Serpinb6c	UTSW	13	34,064,688 (GRCm39)	missense	possibly damaging	0.76
Z1088:Serpinb6c	UTSW	13	34,077,906 (GRCm39)	missense	probably benign	0.01
Z1088:Serpinb6c	UTSW	13	34,077,855 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCCAACTGATTGACATGGATGG -3'
(R):5'- GAAACAGGAAGGATGGATTTTATACTC -3'

Sequencing Primer
(F):5'- TGGGGTAAATATAGCTCAGTGGC -3'
(R):5'- GCTAATCACTTGCATGGCT -3'

Posted On

2022-10-06