Mutagenetix > Incidental Mutations

Incidental Mutation 'R8142:Serpinb6c'

632599

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

Is this an essential gene?

Probably non essential (E-score: 0.179) question?

Stock #

R8142 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

33879816-33905708 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 33880113 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 320 (I320L)

Ref Sequence

ENSEMBL: ENSMUSP00000127619 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000110273
AA Change: I320L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000105902
Gene: ENSMUSG00000052180
AA Change: I320L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000172184
AA Change: I320L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000127619
Gene: ENSMUSG00000052180
AA Change: I320L

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

Coding Region Coverage

1x: 99.7%
3x: 99.5%
10x: 98.0%
20x: 91.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp6v1e2	A	T	17: 86,944,655	I105N	possibly damaging	Het
Azi2	A	G	9: 118,049,407	D105G	probably damaging	Het
Bmpr2	T	C	1: 59,870,306	S980P	probably damaging	Het
Ccno	T	G	13: 112,988,955	L151R	probably damaging	Het
Cdh2	A	C	18: 16,601,734	I801S	probably benign	Het
Cyp2f2	G	A	7: 27,129,253	V183I	probably benign	Het
Dab1	T	A	4: 104,678,724	V110D	probably damaging	Het
Dnah3	T	C	7: 120,060,966	T828A	probably benign	Het
Dnah5	G	T	15: 28,384,373	V3088L	probably benign	Het
Dtd2	T	A	12: 51,999,810	D82V	probably damaging	Het
Dusp5	T	C	19: 53,537,481	F185L	probably damaging	Het
Epha10	A	G	4: 124,885,846	T162A	probably damaging	Het
Fat4	A	T	3: 38,891,203	D1415V	probably damaging	Het
Fitm1	T	C	14: 55,575,790	Y37H	possibly damaging	Het
Flg2	G	T	3: 93,215,475	E1651*	probably null	Het
Gm15922	A	G	7: 3,736,843	S418P	possibly damaging	Het
Ifit3	G	T	19: 34,587,501	C149F	probably damaging	Het
Lepr	C	A	4: 101,765,419	H465Q	possibly damaging	Het
Ltn1	A	C	16: 87,381,641	S1567A	probably benign	Het
March1	T	C	8: 66,456,126	V166A	probably benign	Het
Marveld2	T	C	13: 100,600,940	H424R	possibly damaging	Het
Mypop	A	G	7: 19,001,126	T383A	unknown	Het
Ngef	G	C	1: 87,540,741	R99G	probably benign	Het
Npepps	G	T	11: 97,218,572	A726D	probably damaging	Het
Olfr766-ps1	T	A	10: 129,064,650	D9V	probably benign	Het
Pcdhgb4	A	G	18: 37,721,113	D187G	probably damaging	Het
Pdzd3	A	G	9: 44,250,781		probably null	Het
Per2	T	C	1: 91,421,547	E1034G	possibly damaging	Het
Pkhd1l1	G	A	15: 44,514,931	R1027H	probably benign	Het
Pon2	A	T	6: 5,266,239	V260D	probably benign	Het
Rnase13	A	G	14: 51,922,436	I82T	probably damaging	Het
Sbno1	A	G	5: 124,408,545	S194P	probably benign	Het
Sh3rf3	C	T	10: 59,049,383	R363*	probably null	Het
Slc11a1	T	C	1: 74,385,259	F500L	probably benign	Het
Slc1a4	A	G	11: 20,307,890		probably null	Het
Slc1a7	G	A	4: 108,012,276	V513M	probably benign	Het
Sorcs2	T	C	5: 36,062,614	N362S	possibly damaging	Het
Stau2	A	G	1: 16,460,351	S115P	unknown	Het
Stk38l	A	G	6: 146,758,572	N34S	probably benign	Het
Tmem201	T	C	4: 149,718,657	T585A	probably benign	Het
Ttc6	A	T	12: 57,697,472	I1297F	possibly damaging	Het
Uncx	A	G	5: 139,546,900	D240G	possibly damaging	Het
Vmn2r88	A	G	14: 51,414,107	I293V		Het
Vps11	T	C	9: 44,354,555	T476A	probably benign	Het
Vrtn	T	C	12: 84,650,621	L715P	probably damaging	Het
Wdr72	T	G	9: 74,139,667	V65G	probably damaging	Het
Zbtb21	T	C	16: 97,951,475	E536G	probably damaging	Het
Zbtb34	G	T	2: 33,412,481	S16*	probably null	Het
Zfhx2	G	A	14: 55,073,438	L600F	possibly damaging	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
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'- AGAACAACCTTTCCTCAGGGAG -3'
(R):5'- ACCTCTCTTCTAGGTGGAAAAGG -3'

Sequencing Primer
(F):5'- CTCAGGGAGAGGAGAGCC -3'
(R):5'- CTCTTCTAGGTGGAAAAGGAAATAAC -3'

Posted On

2020-06-30