Mutagenetix > Incidental Mutations

Incidental Mutation 'R7873:Serpinb12'

608215

Institutional Source

Beutler Lab

Gene Symbol

Serpinb12

Ensembl Gene

ENSMUSG00000059956

Gene Name

serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 12

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7873 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

106934449-106957080 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 106953739 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 202 (V202E)

Ref Sequence

ENSEMBL: ENSMUSP00000080030 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081277] [ENSMUST00000112724]

Predicted Effect

probably damaging
Transcript: ENSMUST00000081277
AA Change: V202E

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

SMART Domains

Protein: ENSMUSP00000080030
Gene: ENSMUSG00000059956
AA Change: V202E

Domain	Start	End	E-Value	Type
SERPIN	13	423	5.88e-154	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000112724
AA Change: V202E

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

SMART Domains

Protein: ENSMUSP00000108344
Gene: ENSMUSG00000059956
AA Change: V202E

Domain	Start	End	E-Value	Type
SERPIN	13	423	5.88e-154	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	T	16: 4,866,227	I229F	probably benign	Het
Abca14	T	C	7: 120,289,569	L1246S	probably benign	Het
Acacb	A	C	5: 114,223,278	S1340R	possibly damaging	Het
Ankrd6	A	T	4: 32,806,499	S585T	possibly damaging	Het
Btbd11	T	C	10: 85,631,125	V685A	possibly damaging	Het
Ccdc54	A	G	16: 50,590,309	V198A	probably benign	Het
Cnga4	A	G	7: 105,407,042	I387V	probably damaging	Het
Creg1	G	T	1: 165,769,879	D141Y	probably damaging	Het
Cxcr2	T	C	1: 74,159,007	L220P	probably benign	Het
Dennd5a	T	A	7: 109,926,934	I344F	probably damaging	Het
Dysf	A	G	6: 84,083,765	N448S	probably benign	Het
Efcab6	A	G	15: 84,018,625		probably null	Het
Elf2	C	A	3: 51,256,678	V489F	probably damaging	Het
Elmod2	G	T	8: 83,331,219	H12N	probably benign	Het
Eln	C	T	5: 134,711,187	G618E	unknown	Het
Fam129c	A	T	8: 71,602,248	I193F	probably damaging	Het
Fbxo33	G	T	12: 59,219,021	S153R	possibly damaging	Het
Fbxw7	A	T	3: 84,925,764	I38F	possibly damaging	Het
Flnc	G	A	6: 29,456,991	V2329I	possibly damaging	Het
Fsip2	C	T	2: 82,949,512	R201C	probably damaging	Het
Gm16486	A	G	8: 70,711,340	M1061V	probably benign	Het
Gm5724	T	A	6: 141,727,722	L363F	probably benign	Het
Gpr155	T	C	2: 73,343,590	E825G	possibly damaging	Het
Grk3	A	T	5: 112,929,686	M405K	probably benign	Het
Hace1	T	C	10: 45,672,787	V597A	possibly damaging	Het
Hist1h2bf	A	T	13: 23,574,070	Y41N	probably damaging	Het
Ido1	A	G	8: 24,584,742	F295S	probably damaging	Het
Ighe	T	A	12: 113,271,322	E406V		Het
Ighv1-31	G	T	12: 114,829,654	A15E	probably benign	Het
Ighv1-75	A	T	12: 115,834,368	L10H	probably damaging	Het
Inpp5e	T	A	2: 26,407,945	K215*	probably null	Het
Krt18	C	T	15: 102,030,956	T288I	probably benign	Het
Lrwd1	A	T	5: 136,123,938	I490N	probably benign	Het
Macf1	T	A	4: 123,504,551		probably null	Het
Mapk8ip3	A	G	17: 24,906,172	V482A	probably benign	Het
Mcidas	G	A	13: 112,998,987	G315S	probably damaging	Het
Mdk	A	G	2: 91,931,428	F7S	probably benign	Het
Mycbp2	G	A	14: 103,156,146	P2993L	probably damaging	Het
Nme4	A	T	17: 26,093,888	Y99N	probably damaging	Het
Nr1d2	G	A	14: 18,216,656	R171*	probably null	Het
Olfr63	A	G	17: 33,269,374	I217V	probably benign	Het
Osgep	G	T	14: 50,915,890	T326K	probably damaging	Het
Pdgfd	C	T	9: 6,337,271	T201M	probably benign	Het
Pdk4	T	C	6: 5,487,086	D320G	probably benign	Het
Pelp1	A	T	11: 70,394,726	V772D	probably damaging	Het
Pkdrej	T	A	15: 85,816,523	R1737S	probably benign	Het
Ppp1r13b	A	T	12: 111,834,886	Y578N	probably damaging	Het
Ppp1r3b	A	C	8: 35,384,175	K56T	probably benign	Het
Prdm11	G	T	2: 92,989,283	H261N	probably benign	Het
Preb	T	A	5: 30,958,765	N166I	probably benign	Het
Psd3	T	C	8: 67,882,982	K681R	possibly damaging	Het
Ptgs1	G	A	2: 36,251,280	V580I	probably damaging	Het
Ptpro	T	A	6: 137,430,739	S949T	probably benign	Het
Pum2	A	G	12: 8,748,802	E973G	possibly damaging	Het
Rdh1	A	G	10: 127,760,023	D29G	probably benign	Het
Rel	A	G	11: 23,742,957	S359P	probably benign	Het
Rnf165	T	C	18: 77,466,753	D248G	possibly damaging	Het
Ryr3	T	A	2: 112,730,428	H2996L	probably benign	Het
Scarb1	C	T	5: 125,294,039	C323Y	probably damaging	Het
Scn5a	C	T	9: 119,498,127	R1309H	probably damaging	Het
Shh	A	G	5: 28,458,300	L290P	possibly damaging	Het
Six4	CT	C	12: 73,104,239		probably benign	Het
Slc34a2	G	A	5: 53,058,372	G42R	probably benign	Het
Slc41a1	A	G	1: 131,830,823	N68D	possibly damaging	Het
Slc7a6os	A	G	8: 106,210,724	S64P	probably damaging	Het
Smc1b	A	G	15: 85,110,650		probably null	Het
Snx9	T	C	17: 5,918,476	V349A	possibly damaging	Het
Sstr1	G	T	12: 58,213,527	G312V	probably damaging	Het
Tnfsf10	A	G	3: 27,335,659	I290V	probably benign	Het
Trio	A	G	15: 27,805,684	C1717R	possibly damaging	Het
Ttbk1	T	G	17: 46,446,568	S1047R	probably damaging	Het
Ttn	T	C	2: 76,916,533	D4724G	probably benign	Het
Uba1y	T	A	Y: 825,542	N301K	probably benign	Het
Unc5c	A	G	3: 141,827,549	T853A	probably benign	Het
Vmn2r45	T	A	7: 8,483,075	I405L	probably benign	Het
Wdr37	A	T	13: 8,805,933	M458K	probably damaging	Het
Zdhhc14	A	T	17: 5,712,454	Y211F	probably benign	Het
Zfp108	G	A	7: 24,261,333	V450I	probably benign	Het
Zfp212	A	T	6: 47,930,926	R280*	probably null	Het
Zfp940	A	T	7: 29,835,617	V108E	unknown	Het

Other mutations in Serpinb12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01859:Serpinb12	APN	1	106953834	critical splice donor site	probably null
IGL02578:Serpinb12	APN	1	106955490	critical splice donor site	probably null
R0380:Serpinb12	UTSW	1	106950821	critical splice donor site	probably null
R0525:Serpinb12	UTSW	1	106946702	missense	probably benign	0.00
R1720:Serpinb12	UTSW	1	106946614	missense	probably damaging	1.00
R4600:Serpinb12	UTSW	1	106949153	missense	probably benign	0.00
R4601:Serpinb12	UTSW	1	106949153	missense	probably benign	0.00
R4602:Serpinb12	UTSW	1	106949153	missense	probably benign	0.00
R4610:Serpinb12	UTSW	1	106949153	missense	probably benign	0.00
R4611:Serpinb12	UTSW	1	106949153	missense	probably benign	0.00
R4852:Serpinb12	UTSW	1	106956402	missense	probably benign	0.02
R5327:Serpinb12	UTSW	1	106956444	missense	probably damaging	0.99
R5495:Serpinb12	UTSW	1	106956421	missense	probably damaging	0.98
R5601:Serpinb12	UTSW	1	106953697	missense	probably damaging	1.00
R5681:Serpinb12	UTSW	1	106946701	missense	probably benign	0.00
R6329:Serpinb12	UTSW	1	106953763	missense	probably damaging	1.00
R6723:Serpinb12	UTSW	1	106949158	missense	probably benign
R7514:Serpinb12	UTSW	1	106950804	missense	probably damaging	0.97
R7559:Serpinb12	UTSW	1	106953723	missense	probably damaging	0.97
R7751:Serpinb12	UTSW	1	106949671	missense	probably damaging	1.00
R7956:Serpinb12	UTSW	1	106953739	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TATTCACAGTGCTCTTGAGTGG -3'
(R):5'- TTGGCTTGAGTCTCTAAACACCC -3'

Sequencing Primer
(F):5'- ACGGCAGTGAGAGTTCTCCTC -3'
(R):5'- CCTGATCACCATTCATTGAATCAGG -3'

Posted On

2019-12-20