Mutagenetix > Incidental Mutation

Incidental Mutation 'R0848:Serpinb6c'

77450

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

039027-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.161) question?

Stock #

R0848 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33879816-33905708 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 33899305 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 42 (V42D)

Ref Sequence

ENSEMBL: ENSMUSP00000152676 (fasta)

Gene Model

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

AlphaFold

W4VSP4

Predicted Effect

probably damaging
Transcript: ENSMUST00000110273
AA Change: V42D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000105902
Gene: ENSMUSG00000052180
AA Change: V42D

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000172184
AA Change: V42D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000127619
Gene: ENSMUSG00000052180
AA Change: V42D

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000222216
AA Change: V42D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.3%
20x: 94.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	T	6: 23,114,985	H181Q	probably damaging	Het
Abca13	T	A	11: 9,682,011	L4977*	probably null	Het
Abca8a	T	A	11: 110,028,190	Y1550F	probably damaging	Het
Actr2	C	T	11: 20,072,584	E296K	probably benign	Het
Agtpbp1	A	T	13: 59,533,939		probably benign	Het
Anks1b	A	C	10: 90,071,125	E268A	probably damaging	Het
Atp5s	A	T	12: 69,741,810	H161L	probably benign	Het
C1rl	A	G	6: 124,508,506	T279A	probably benign	Het
C5ar2	T	C	7: 16,237,601	T134A	probably benign	Het
Cdkl3	G	A	11: 52,011,267	R101Q	probably damaging	Het
Celsr2	A	T	3: 108,414,338	F386Y	probably benign	Het
Chd1	C	T	17: 15,770,241	P1685L	probably damaging	Het
Chrne	G	T	11: 70,615,413	H402Q	probably benign	Het
Clvs1	A	G	4: 9,282,003	D149G	possibly damaging	Het
Cntnap5b	T	C	1: 100,255,163	Y620H	probably benign	Het
Col6a1	A	G	10: 76,713,624		probably null	Het
Cyp2d26	T	A	15: 82,790,233	I483F	probably benign	Het
Dlx6	C	T	6: 6,863,665	Q96*	probably null	Het
Eif1a	T	A	18: 46,608,047	N116K	possibly damaging	Het
Epb41l5	A	T	1: 119,549,954	C696S	probably benign	Het
Exoc7	A	G	11: 116,295,248	S376P	possibly damaging	Het
Fads1	C	T	19: 10,183,065	P5L	probably benign	Het
G3bp1	T	C	11: 55,498,626	F383L	probably damaging	Het
Gimap7	T	C	6: 48,723,723	I81T	probably damaging	Het
Gtf2a1l	T	C	17: 88,694,229	V171A	probably damaging	Het
Hax1	A	G	3: 89,995,633	S253P	probably damaging	Het
Hsd3b5	A	T	3: 98,619,355	D258E	probably damaging	Het
Kcnb1	G	T	2: 167,106,267	F220L	probably damaging	Het
Kif1a	T	A	1: 93,019,898	Y1708F	probably damaging	Het
Krt14	A	T	11: 100,204,264	I379N	probably damaging	Het
Lpxn	A	G	19: 12,804,037	I40V	probably benign	Het
Lrp1	C	T	10: 127,553,362		probably null	Het
Lyst	G	A	13: 13,634,930	R395H	probably benign	Het
Mindy4	G	A	6: 55,318,286	W737*	probably null	Het
Mki67	C	A	7: 135,701,043	R754L	probably benign	Het
Morf4l1	A	G	9: 90,100,449	V144A	probably benign	Het
Mvb12a	T	C	8: 71,545,778	S186P	probably benign	Het
Myrf	G	C	19: 10,218,162	T428S	probably benign	Het
Nipal1	A	G	5: 72,667,840	N292S	probably damaging	Het
Nqo2	T	G	13: 33,972,478		probably null	Het
Olfr1532-ps1	A	G	7: 106,914,993	K265R	probably benign	Het
Olfr294	T	C	7: 86,615,640	Y335C	probably damaging	Het
Olfr807	C	T	10: 129,755,208	V81I	probably benign	Het
Olfr994	A	T	2: 85,430,021	N269K	probably benign	Het
Osbpl7	C	A	11: 97,060,524	P507Q	probably damaging	Het
Pcdhb1	G	A	18: 37,267,422	G809S	probably benign	Het
Pcm1	T	C	8: 41,282,683	V846A	probably damaging	Het
Phf3	A	G	1: 30,863,172	L20P	probably damaging	Het
Pih1d1	A	G	7: 45,157,617	T58A	probably damaging	Het
Plekhn1	A	G	4: 156,223,564		probably null	Het
Plvap	A	T	8: 71,506,882	L422Q	probably damaging	Het
Polq	C	T	16: 37,062,130	A1273V	probably benign	Het
Prelid2	T	A	18: 41,935,224	I51F	probably damaging	Het
Ptpn18	G	A	1: 34,462,702	D8N	probably damaging	Het
Ptpra	T	A	2: 130,518,991	F190Y	probably damaging	Het
Pus7l	A	G	15: 94,540,512	S151P	probably benign	Het
Rsph6a	G	A	7: 19,057,670	D255N	probably benign	Het
Slc7a13	A	G	4: 19,818,866	N22S	probably benign	Het
Snx5	G	A	2: 144,253,806	R312C	probably damaging	Het
Stard9	T	C	2: 120,695,823	S854P	probably damaging	Het
Syne2	AAGAG	AAGAGAGAG	12: 76,097,959		probably null	Het
Syne2	AGAGTGAG	AGAGTGAGTGAG	12: 76,097,960		probably null	Het
Tlr12	A	G	4: 128,616,291	I722T	probably benign	Het
Tmem101	A	T	11: 102,155,866	M59K	possibly damaging	Het
Trim34a	C	T	7: 104,261,124	R378C	probably benign	Het
Trim35	T	A	14: 66,309,125	M447K	probably benign	Het
Trps1	C	A	15: 50,661,549	S704I	possibly damaging	Het
Vmn1r231	T	A	17: 20,890,171	S161C	probably damaging	Het
Vps13a	A	C	19: 16,698,897	N1237K	probably damaging	Het
Zfp619	G	T	7: 39,536,559	C671F	probably 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
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
R8866: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'- CTGTCACCACCAGTGGATCAGAATG -3'
(R):5'- TGAAGATTCGGCCCATACATCAGC -3'

Sequencing Primer
(F):5'- GCATCCCAGCAGGGTATCAC -3'
(R):5'- ATACATCAGCCTGTGTCGTG -3'

Posted On

2013-10-16