Mutagenetix > Incidental Mutation

Incidental Mutation 'R4458:Serpine3'

330032

Institutional Source

Beutler Lab

Gene Symbol

Serpine3

Ensembl Gene

ENSMUSG00000091155

Gene Name

serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3

Synonyms

E130113E03Rik

MMRRC Submission

041718-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R4458 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

62901116-62929692 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 62911922 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 295 (L295I)

Ref Sequence

ENSEMBL: ENSMUSP00000125769 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053959] [ENSMUST00000171692]

AlphaFold

E9Q6A2

Predicted Effect

probably benign
Transcript: ENSMUST00000053959

SMART Domains

Protein: ENSMUSP00000086788
Gene: ENSMUSG00000035161

Domain	Start	End	E-Value	Type
VWA	1	158	4.11e-1	SMART
Blast:VWA	307	331	1e-7	BLAST
Blast:RRM_2	701	727	3e-8	BLAST
Pfam:INT_SG_DDX_CT_C	803	865	4e-30	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000171692
AA Change: L295I

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

SMART Domains

Protein: ENSMUSP00000125769
Gene: ENSMUSG00000091155
AA Change: L295I

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
SERPIN	37	399	4.76e-58	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630076J17Rik	G	A	3: 107,139,997 (GRCm39)		probably null	Het
Akap13	A	G	7: 75,389,213 (GRCm39)	D2377G	probably damaging	Het
Ankrd44	A	T	1: 54,801,550 (GRCm39)	I56N	possibly damaging	Het
Apob	T	A	12: 8,065,445 (GRCm39)	I4105N	probably damaging	Het
Arhgap5	T	A	12: 52,564,740 (GRCm39)	N570K	probably benign	Het
Arid1b	A	T	17: 5,293,191 (GRCm39)	Q703L	probably damaging	Het
Atp4a	G	A	7: 30,419,650 (GRCm39)	R671Q	probably benign	Het
Cad	T	A	5: 31,218,570 (GRCm39)	V499D	probably damaging	Het
Cdkn2d	C	G	9: 21,202,185 (GRCm39)	V21L	probably benign	Het
Celsr2	A	C	3: 108,302,313 (GRCm39)	I2605S	probably damaging	Het
Chd6	T	A	2: 160,871,796 (GRCm39)	Y213F	possibly damaging	Het
Clec18a	T	A	8: 111,802,102 (GRCm39)	T296S	probably damaging	Het
Crybg2	C	T	4: 133,802,205 (GRCm39)	P1122S	probably benign	Het
Cyld	G	T	8: 89,445,929 (GRCm39)	S309I	probably benign	Het
Dctn5	G	T	7: 121,734,303 (GRCm39)	R49L	probably damaging	Het
Egr2	GAA	GA	10: 67,375,733 (GRCm39)		probably null	Het
Erbin	C	A	13: 103,970,065 (GRCm39)	V1184F	probably damaging	Het
Ercc2	G	T	7: 19,127,771 (GRCm39)	R406L	probably damaging	Het
Eya1	C	T	1: 14,253,420 (GRCm39)	V519M	probably damaging	Het
Flad1	T	C	3: 89,316,241 (GRCm39)	H107R	probably benign	Het
Fsip2	G	T	2: 82,821,120 (GRCm39)	A5618S	possibly damaging	Het
Gabbr1	G	T	17: 37,378,667 (GRCm39)		probably null	Het
Haghl	A	T	17: 26,003,994 (GRCm39)	V30E	probably damaging	Het
Itga5	C	T	15: 103,258,630 (GRCm39)	E822K	probably damaging	Het
Klhl26	T	A	8: 70,905,342 (GRCm39)	E108D	possibly damaging	Het
Kpnb1	A	T	11: 97,059,996 (GRCm39)	L558Q	probably damaging	Het
Lias	T	C	5: 65,551,383 (GRCm39)		probably null	Het
Ltbp1	A	T	17: 75,583,502 (GRCm39)	K434M	possibly damaging	Het
Marchf1	C	A	8: 66,908,823 (GRCm39)	A177E	probably damaging	Het
Naip2	T	A	13: 100,291,419 (GRCm39)	H1173L	probably benign	Het
Nol4	T	C	18: 22,885,052 (GRCm39)	I419V	probably damaging	Het
Nol6	A	G	4: 41,115,888 (GRCm39)	L1068P	probably damaging	Het
Nrcam	T	C	12: 44,606,513 (GRCm39)	S420P	probably damaging	Het
Or10c1	A	T	17: 37,522,204 (GRCm39)	I180N	possibly damaging	Het
Pitpnm2	T	C	5: 124,259,439 (GRCm39)	T1299A	probably benign	Het
Prdm16	A	G	4: 154,406,765 (GRCm39)	V1220A	probably benign	Het
Saraf	T	C	8: 34,621,870 (GRCm39)	S25P	unknown	Het
Sntb2	G	A	8: 107,718,239 (GRCm39)		probably null	Het
Surf6	T	C	2: 26,782,721 (GRCm39)	E202G	probably benign	Het
Tent5a	T	C	9: 85,208,527 (GRCm39)	I99V	possibly damaging	Het
Th	A	T	7: 142,450,690 (GRCm39)	D135E	probably benign	Het
Traf1	A	G	2: 34,835,445 (GRCm39)	Y326H	probably damaging	Het
Tshz2	G	A	2: 169,727,008 (GRCm39)	A66T	probably benign	Het
Ttn	T	C	2: 76,777,257 (GRCm39)	M1382V	probably benign	Het
Ubqlnl	A	G	7: 103,798,396 (GRCm39)	V367A	probably benign	Het
Uspl1	T	A	5: 149,150,962 (GRCm39)	S707T	possibly damaging	Het
Utp18	A	G	11: 93,761,359 (GRCm39)	S350P	possibly damaging	Het
Vmn1r177	A	G	7: 23,565,645 (GRCm39)	V77A	possibly damaging	Het
Vmn1r229	A	G	17: 21,034,894 (GRCm39)	I46M	probably damaging	Het
Vnn3	T	C	10: 23,741,567 (GRCm39)	Y291H	probably benign	Het
Vps9d1	A	G	8: 123,974,487 (GRCm39)	S267P	probably benign	Het
Wrn	T	A	8: 33,785,026 (GRCm39)	T692S	probably damaging	Het
Yeats2	T	C	16: 20,032,071 (GRCm39)	I19T	probably damaging	Het
Zfp13	G	A	17: 23,800,150 (GRCm39)	A36V	probably benign	Het

Other mutations in Serpine3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1589:Serpine3	UTSW	14	62,911,830 (GRCm39)	missense	probably benign	0.00
R1971:Serpine3	UTSW	14	62,902,533 (GRCm39)	missense	probably damaging	0.97
R2115:Serpine3	UTSW	14	62,910,459 (GRCm39)	missense	probably damaging	1.00
R4097:Serpine3	UTSW	14	62,908,395 (GRCm39)	missense	probably damaging	1.00
R5306:Serpine3	UTSW	14	62,908,382 (GRCm39)	missense	probably damaging	0.98
R5662:Serpine3	UTSW	14	62,908,291 (GRCm39)	missense	probably benign	0.12
R6330:Serpine3	UTSW	14	62,902,430 (GRCm39)	missense	probably benign	0.01
R6570:Serpine3	UTSW	14	62,911,770 (GRCm39)	missense	probably damaging	1.00
R7499:Serpine3	UTSW	14	62,902,476 (GRCm39)	nonsense	probably null
R7635:Serpine3	UTSW	14	62,910,464 (GRCm39)	missense	possibly damaging	0.79
R8885:Serpine3	UTSW	14	62,902,587 (GRCm39)	missense	probably damaging	1.00
R8922:Serpine3	UTSW	14	62,910,503 (GRCm39)	missense	probably benign	0.01
R9066:Serpine3	UTSW	14	62,929,555 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGCTGCAGGCCATGAGATAG -3'
(R):5'- GAAGACCCAGGAATTCAACTGTG -3'

Sequencing Primer
(F):5'- CCATGAGATAGCTGTTCTAGAGC -3'
(R):5'- CCCAGGAATTCAACTGTGCATGTG -3'

Posted On

2015-07-21