Mutagenetix > Incidental Mutation

Incidental Mutation 'R6330:Serpine3'

510874

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

044484-MU

Accession Numbers

Essential gene?

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

Stock #

R6330 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

62901116-62929692 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62902430 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 14 (S14P)

Ref Sequence

ENSEMBL: ENSMUSP00000125769 (fasta)

Gene Model

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

AlphaFold

E9Q6A2

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158906

Predicted Effect

probably benign
Transcript: ENSMUST00000171692
AA Change: S14P

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000125769
Gene: ENSMUSG00000091155
AA Change: S14P

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

98% (46/47)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310079G19Rik	T	A	16: 88,423,939 (GRCm39)	H184L	probably benign	Het
Ccar1	A	G	10: 62,600,312 (GRCm39)	Y540H	probably damaging	Het
Celf2	A	G	2: 6,889,766 (GRCm39)	F2L	probably benign	Het
Cfap57	T	C	4: 118,426,593 (GRCm39)	I1119V	probably benign	Het
Clec4f	T	C	6: 83,629,850 (GRCm39)	Q236R	probably damaging	Het
Cstdc2	G	T	2: 148,692,745 (GRCm39)	A19D	probably damaging	Het
Cyp4a31	C	T	4: 115,421,074 (GRCm39)	P54L	probably damaging	Het
Dapk1	T	C	13: 60,909,140 (GRCm39)	V1251A	probably benign	Het
Dnah7b	G	A	1: 46,379,335 (GRCm39)	V3690M	probably damaging	Het
Dock9	A	T	14: 121,842,655 (GRCm39)	M1K	probably null	Het
Emb	T	G	13: 117,385,666 (GRCm39)		probably null	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
F7	C	T	8: 13,085,140 (GRCm39)	H389Y	probably damaging	Het
Fam111a	T	A	19: 12,564,266 (GRCm39)	I49K	probably damaging	Het
Fam50b	T	G	13: 34,930,652 (GRCm39)	S43A	probably benign	Het
Gbp7	A	T	3: 142,252,259 (GRCm39)	Y614F	probably benign	Het
Gli3	T	A	13: 15,899,317 (GRCm39)	D901E	probably damaging	Het
Hhatl	C	T	9: 121,617,291 (GRCm39)		probably null	Het
Idua	T	A	5: 108,829,574 (GRCm39)	L432H	probably benign	Het
Ighv10-3	T	A	12: 114,487,086 (GRCm39)	T112S	possibly damaging	Het
Kcnj6	T	A	16: 94,563,460 (GRCm39)	D346V	possibly damaging	Het
Lrba	A	G	3: 86,255,664 (GRCm39)	D1002G	probably benign	Het
Lrrd1	T	A	5: 3,900,629 (GRCm39)	S311R	probably damaging	Het
Mafk	A	G	5: 139,784,948 (GRCm39)	N4S	probably benign	Het
Mfsd14b	T	C	13: 65,243,500 (GRCm39)	Y48C	probably damaging	Het
Mindy3	C	T	2: 12,361,744 (GRCm39)	A333T	probably damaging	Het
Mlxip	G	A	5: 123,533,015 (GRCm39)	C8Y	probably benign	Het
Mthfd1l	A	T	10: 3,930,234 (GRCm39)	M110L	probably benign	Het
Myo5b	G	A	18: 74,750,064 (GRCm39)	A176T	probably damaging	Het
Or14j7	T	C	17: 38,234,685 (GRCm39)	V76A	possibly damaging	Het
Or1af1	A	T	2: 37,110,136 (GRCm39)	I212F	probably benign	Het
Orc2	C	A	1: 58,539,493 (GRCm39)	V49L	probably benign	Het
Pfkp	C	T	13: 6,635,286 (GRCm39)		probably benign	Het
Pkd1l3	T	C	8: 110,373,541 (GRCm39)	F1359S	probably benign	Het
Ralgps1	A	T	2: 33,064,455 (GRCm39)	I222N	probably damaging	Het
Rrad	T	G	8: 105,356,492 (GRCm39)	E136A	probably benign	Het
Slc2a12	A	G	10: 22,540,894 (GRCm39)	T250A	probably benign	Het
Slc4a5	T	G	6: 83,203,356 (GRCm39)	F85L	probably benign	Het
Stx18	T	A	5: 38,284,261 (GRCm39)		probably null	Het
Tbcd	T	C	11: 121,387,912 (GRCm39)	S348P	probably benign	Het
Usp9y	T	C	Y: 1,340,123 (GRCm39)	T1419A	probably benign	Homo
Vmn2r69	T	C	7: 85,060,835 (GRCm39)	S250G	probably benign	Het
Vmn2r86	A	G	10: 130,282,396 (GRCm39)	V740A	probably benign	Het
Vwa5b2	T	A	16: 20,420,727 (GRCm39)	I846N	probably damaging	Het
Zfp74	A	T	7: 29,637,412 (GRCm39)	Y33N	probably damaging	Het
Zfp825	T	C	13: 74,628,665 (GRCm39)	T284A	possibly damaging	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
R4458:Serpine3	UTSW	14	62,911,922 (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
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'- TACCTGGCCACTGAAAACAG -3'
(R):5'- GAGCCTCTTACCTTGCACTG -3'

Sequencing Primer
(F):5'- CTGAAAACAGAGCCAGGTGCC -3'
(R):5'- TACCTTGCACTGTATAGCCGAGG -3'

Posted On

2018-04-02