Mutagenetix > Incidental Mutation

Incidental Mutation 'R8866:Serpinb6c'

675954

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: 0.170) question?

Stock #

R8866 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

33879816-33905708 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 33899326 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 35 (I35N)

Ref Sequence

ENSEMBL: ENSMUSP00000127619 (fasta)

Gene Model

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

AlphaFold

W4VSP4

Predicted Effect

probably damaging
Transcript: ENSMUST00000110273
AA Change: I35N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105902
Gene: ENSMUSG00000052180
AA Change: I35N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000172184
AA Change: I35N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000127619
Gene: ENSMUSG00000052180
AA Change: I35N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000222216
AA Change: I35N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	C	T	3: 60,007,090	T38I	probably benign	Het
Arhgap1	G	T	2: 91,669,399	S293I	probably benign	Het
Arhgap45	C	A	10: 80,017,916	P88Q	probably damaging	Het
Atg9a	A	C	1: 75,185,223	F560V	probably damaging	Het
Btaf1	T	A	19: 36,958,501	N230K	probably benign	Het
Ccne1	A	C	7: 38,100,621	H179Q	probably benign	Het
Dbr1	T	A	9: 99,578,444	L109*	probably null	Het
Dchs1	G	T	7: 105,755,390	N2648K	probably benign	Het
Ddx47	A	G	6: 135,023,393	K451E	probably benign	Het
Dlgap1	A	T	17: 70,516,440	H140L	probably damaging	Het
Dnah11	T	A	12: 118,192,372	H181L	probably benign	Het
Dync1h1	T	C	12: 110,635,899	C2074R	probably damaging	Het
Ell2	A	T	13: 75,769,674	Q574H	probably damaging	Het
Eloa	A	C	4: 136,010,227		probably null	Het
Epha7	A	G	4: 28,821,614	I260V	probably benign	Het
Fbp2	T	C	13: 62,841,895	K199R	probably benign	Het
Fetub	A	T	16: 22,939,571	E368V	possibly damaging	Het
Fsip2	A	G	2: 82,980,177	Q2280R	probably benign	Het
Fstl4	A	G	11: 53,072,406	E205G	possibly damaging	Het
Gm5592	A	T	7: 41,288,822	R509S	possibly damaging	Het
Gpld1	A	G	13: 24,986,907	T794A	probably benign	Het
Gsk3b	A	G	16: 38,184,538	Y157C	probably damaging	Het
Hgs	A	G	11: 120,469,638	N54S	probably benign	Het
Hydin	G	A	8: 110,582,147	V4022M	possibly damaging	Het
Kank1	T	C	19: 25,411,338	S792P	possibly damaging	Het
Kctd4	A	G	14: 75,963,025	I145M	probably benign	Het
Klra5	A	T	6: 129,903,570	W212R	probably damaging	Het
Lrp6	A	T	6: 134,468,822	N1009K	probably benign	Het
Lrrc10	T	A	10: 117,045,953	N177K	probably damaging	Het
Lrrc39	T	A	3: 116,570,141	I121N	probably damaging	Het
Mov10l1	A	T	15: 89,011,966	D671V	probably benign	Het
Ndel1	A	G	11: 68,843,819		probably null	Het
Olfr1512	A	T	14: 52,372,739	Y105N	probably damaging	Het
Olfr387-ps1	A	G	11: 73,664,999	Y130C	probably damaging	Het
Olfr392	A	T	11: 73,814,411	S224T	probably damaging	Het
Olfr644	A	T	7: 104,068,912	S40T	probably damaging	Het
Otop2	A	G	11: 115,329,528	D398G	probably benign	Het
Pkd1	T	C	17: 24,573,077	V1246A	probably damaging	Het
Polr3b	T	A	10: 84,695,691	D810E	probably benign	Het
Ppl	T	A	16: 5,102,347	T395S	probably benign	Het
Ptprm	G	A	17: 66,809,635	A883V	probably benign	Het
Rapgef6	G	A	11: 54,552,874		probably null	Het
Rbm12	A	T	2: 156,096,773	Y526*	probably null	Het
Rbm15b	C	T	9: 106,886,396	R191Q	probably benign	Het
Rsf1	GCGGCGGCG	GCGGCGGCGACGGCGGCG	7: 97,579,913		probably benign	Het
Setd4	A	G	16: 93,590,073	F246L	probably damaging	Het
Shank2	A	G	7: 144,411,249	S865G	probably benign	Het
Skint6	T	C	4: 112,854,453	N956D	probably benign	Het
Slc30a3	C	A	5: 31,087,981	V332F	possibly damaging	Het
Smg1	A	G	7: 118,206,899	S240P	unknown	Het
Tank	T	A	2: 61,578,661	S7R	probably benign	Het
Tecpr1	T	C	5: 144,216,299	E204G	possibly damaging	Het
Tmem5	A	G	10: 122,089,048	Y250H	probably damaging	Het
Tmem74	A	G	15: 43,866,835	S271P	probably damaging	Het
Tor4a	T	C	2: 25,194,953	M313V	probably benign	Het
Tpd52l2	A	G	2: 181,513,068	D192G	probably damaging	Het
Trim29	T	C	9: 43,311,648	V258A	probably damaging	Het
Ttc39c	A	T	18: 12,697,946	S288C	probably benign	Het
Ttn	T	C	2: 76,762,331	E20819G	probably damaging	Het
Twnk	C	T	19: 45,011,833	Q663*	probably null	Het
Ucn	T	A	5: 31,138,513	Q3L	probably benign	Het
Unc80	G	A	1: 66,590,229	G1295E	probably benign	Het
Usp9y	C	T	Y: 1,395,758	R492H	probably damaging	Het
Vars	T	C	17: 35,015,644	S1150P	probably benign	Het
Vwa5b1	T	G	4: 138,600,317	E316A	probably damaging	Het
Zc3h7b	G	A	15: 81,772,480	R166Q	probably benign	Het
Zfp839	A	G	12: 110,868,414	E701G	probably benign	Het
Zfp931	A	T	2: 178,068,385	C69*	probably null	Het

Other mutations in Serpinb6c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00852:Serpinb6c	APN	13	33897338	splice site	probably null
IGL01900:Serpinb6c	APN	13	33880190	missense	possibly damaging	0.88
IGL01983:Serpinb6c	APN	13	33897334	splice site	probably benign
IGL03357:Serpinb6c	APN	13	33895386	missense	probably benign	0.08
R0208:Serpinb6c	UTSW	13	33897396	missense	probably benign
R0242:Serpinb6c	UTSW	13	33899247	splice site	probably benign
R0632:Serpinb6c	UTSW	13	33880031	missense	possibly damaging	0.86
R0669:Serpinb6c	UTSW	13	33899269	missense	probably damaging	0.98
R0848:Serpinb6c	UTSW	13	33899305	missense	probably damaging	1.00
R1657:Serpinb6c	UTSW	13	33880226	missense	probably benign	0.01
R3911:Serpinb6c	UTSW	13	33893905	missense	probably benign	0.00
R5135:Serpinb6c	UTSW	13	33880097	missense	probably damaging	1.00
R5275:Serpinb6c	UTSW	13	33893817	missense	probably damaging	1.00
R5295:Serpinb6c	UTSW	13	33893817	missense	probably damaging	1.00
R5700:Serpinb6c	UTSW	13	33899308	missense	probably damaging	1.00
R7490:Serpinb6c	UTSW	13	33893835	missense	probably benign	0.04
R7514:Serpinb6c	UTSW	13	33897403	nonsense	probably null
R7517:Serpinb6c	UTSW	13	33895295	missense	probably damaging	1.00
R7547:Serpinb6c	UTSW	13	33893892	missense	possibly damaging	0.80
R7730:Serpinb6c	UTSW	13	33899309	missense	probably damaging	1.00
R8121:Serpinb6c	UTSW	13	33880218	missense	probably benign	0.38
R8142:Serpinb6c	UTSW	13	33880113	missense	probably benign	0.00
R8745:Serpinb6c	UTSW	13	33880719	missense	probably benign	0.06
R8855:Serpinb6c	UTSW	13	33899326	missense	probably damaging	1.00
R9412:Serpinb6c	UTSW	13	33897388	missense	probably benign	0.00
R9489:Serpinb6c	UTSW	13	33897438	missense	probably null	0.20
R9643:Serpinb6c	UTSW	13	33895320	missense	probably benign	0.00
X0063:Serpinb6c	UTSW	13	33880705	missense	possibly damaging	0.76
Z1088:Serpinb6c	UTSW	13	33893872	missense	probably damaging	1.00
Z1088:Serpinb6c	UTSW	13	33893923	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GTATCACATCCTGCCCATCATG -3'
(R):5'- TGTGCCTTGTTCACTGAGTC -3'

Sequencing Primer
(F):5'- ATCATGTCTCCAGTCACACCC -3'
(R):5'- GTTCACTGAGTCAGAGTATCACAGTG -3'

Posted On

2021-07-15