Mutagenetix > Incidental Mutation

Incidental Mutation 'R5662:Serpine3'

444158

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

043305-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R5662 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

62901116-62929692 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 62908291 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 106 (S106R)

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: S106R

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000125769
Gene: ENSMUSG00000091155
AA Change: S106R

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

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	T	A	7: 78,749,855 (GRCm39)	V1542D	possibly damaging	Het
Acsm4	T	G	7: 119,294,023 (GRCm39)	N131K	possibly damaging	Het
Ankrd54	A	G	15: 78,946,814 (GRCm39)	S62P	possibly damaging	Het
Ccdc186	A	G	19: 56,781,920 (GRCm39)	I753T	probably benign	Het
Cers2	C	T	3: 95,228,295 (GRCm39)	R112C	probably damaging	Het
Col6a4	C	G	9: 105,945,200 (GRCm39)	R971S	probably damaging	Het
Ctsf	T	C	19: 4,906,606 (GRCm39)	S178P	probably damaging	Het
Dennd4c	C	T	4: 86,713,525 (GRCm39)	T492I	probably benign	Het
Dhx8	A	G	11: 101,657,584 (GRCm39)	K1212E	possibly damaging	Het
Dnah8	A	G	17: 30,956,307 (GRCm39)	T2096A	probably damaging	Het
Ephb4	A	T	5: 137,370,457 (GRCm39)	I886F	probably damaging	Het
Eprs1	T	G	1: 185,126,622 (GRCm39)	N519K	possibly damaging	Het
Fam3c	T	C	6: 22,355,061 (GRCm39)		probably benign	Het
Galnt17	G	A	5: 131,114,844 (GRCm39)	R219C	probably damaging	Het
Gm10645	A	G	8: 83,892,486 (GRCm39)		probably benign	Het
Gpr132	G	A	12: 112,816,416 (GRCm39)	R137C	probably damaging	Het
Hydin	T	G	8: 111,307,341 (GRCm39)	S3907A	probably benign	Het
Ighv1-49	A	T	12: 115,019,027 (GRCm39)	V56E	probably damaging	Het
Igtp	A	G	11: 58,097,105 (GRCm39)	D92G	probably damaging	Het
Itga1	C	T	13: 115,122,707 (GRCm39)	V750I	probably benign	Het
Katnip	A	G	7: 125,441,875 (GRCm39)	R595G	probably benign	Het
Kif3c	T	A	12: 3,417,031 (GRCm39)	Y351N	probably damaging	Het
Klhdc1	T	A	12: 69,329,939 (GRCm39)	I356N	probably benign	Het
Lrrc34	T	C	3: 30,685,473 (GRCm39)	Y292C	probably benign	Het
Ly75	G	A	2: 60,182,725 (GRCm39)	T526M	probably damaging	Het
Mroh4	A	T	15: 74,497,277 (GRCm39)	D181E	possibly damaging	Het
Nutm1	T	C	2: 112,079,645 (GRCm39)	N757D	probably benign	Het
Or1e25	T	C	11: 73,494,005 (GRCm39)	F200L	probably benign	Het
Or1m1	A	G	9: 18,666,896 (GRCm39)	F12L	probably damaging	Het
Or6c215	T	C	10: 129,638,176 (GRCm39)	T73A	possibly damaging	Het
Or9s18	T	C	13: 65,300,067 (GRCm39)	F10L	possibly damaging	Het
Paxbp1	G	A	16: 90,834,285 (GRCm39)	T167M	probably benign	Het
Pnpla7	A	G	2: 24,942,396 (GRCm39)	D1238G	probably damaging	Het
Pom121l2	T	C	13: 22,166,358 (GRCm39)	S210P	probably benign	Het
Ripor3	T	G	2: 167,835,476 (GRCm39)	N165T	probably benign	Het
Slc25a11	G	A	11: 70,536,245 (GRCm39)	R158*	probably null	Het
Slc26a6	G	A	9: 108,736,538 (GRCm39)	V506M	possibly damaging	Het
Slc45a2	A	G	15: 11,022,169 (GRCm39)	K304E	probably benign	Het
Slc4a4	C	T	5: 89,176,103 (GRCm39)	L25F	probably damaging	Het
Smarcb1	T	C	10: 75,740,404 (GRCm39)	N267S	possibly damaging	Het
Spink6	C	A	18: 44,207,481 (GRCm39)	Q24K	possibly damaging	Het
Srebf2	T	C	15: 82,079,204 (GRCm39)	S811P	probably benign	Het
Ssc4d	A	G	5: 135,989,748 (GRCm39)	*587R	probably null	Het
Sult2a8	C	T	7: 14,161,765 (GRCm39)	R27H	probably benign	Het
Sun2	C	T	15: 79,623,069 (GRCm39)	A90T	probably benign	Het
Ubr7	T	C	12: 102,734,526 (GRCm39)	S267P	probably benign	Het
Wdr55	G	A	18: 36,893,448 (GRCm39)	V37M	possibly damaging	Het
Xdh	C	T	17: 74,248,110 (GRCm39)	G45S	probably damaging	Het
Zfp638	T	A	6: 83,920,111 (GRCm39)	S570T	probably 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
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'- TGGATTTTGACTAGAGCGGC -3'
(R):5'- GCTGGCACTATTTCTTTGAGC -3'

Sequencing Primer
(F):5'- ACTAGAGCGGCTATGTCATTTCCAG -3'
(R):5'- TGAGCCCTTAGCCTTGCTGAG -3'

Posted On

2016-11-09