Mutagenetix > Incidental Mutation

Incidental Mutation 'R0529:Serpina1e'

49069

Institutional Source

Beutler Lab

Gene Symbol

Serpina1e

Ensembl Gene

ENSMUSG00000072849

Gene Name

serine (or cysteine) peptidase inhibitor, clade A, member 1E

Synonyms

PI5, Spi1-5

MMRRC Submission

038721-MU

Accession Numbers

Essential gene?

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

Stock #

R0529 (G1)

Quality Score

196

Status

Validated

Chromosome

Chromosomal Location

103913190-103923156 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 103915363 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 281 (L281R)

Ref Sequence

ENSEMBL: ENSMUSP00000113606 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085054] [ENSMUST00000122229]

AlphaFold

Q00898

Predicted Effect

probably damaging
Transcript: ENSMUST00000085054
AA Change: L281R

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

SMART Domains

Protein: ENSMUSP00000082130
Gene: ENSMUSG00000072849
AA Change: L281R

Domain	Start	End	E-Value	Type
low complexity region	8	18	N/A	INTRINSIC
SERPIN	53	410	3.17e-200	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000122229
AA Change: L281R

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

SMART Domains

Protein: ENSMUSP00000113606
Gene: ENSMUSG00000072849
AA Change: L281R

Domain	Start	End	E-Value	Type
low complexity region	8	18	N/A	INTRINSIC
SERPIN	53	410	3.17e-200	SMART

Meta Mutation Damage Score

0.8691

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.3%

Validation Efficiency

97% (58/60)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	G	A	17: 9,211,228 (GRCm39)	V126I	probably benign	Het
Aasdh	A	C	5: 77,024,114 (GRCm39)	Y179*	probably null	Het
Afp	A	G	5: 90,652,254 (GRCm39)	Y415C	probably damaging	Het
Aldh5a1	G	T	13: 25,097,856 (GRCm39)	T393K	probably benign	Het
Arhgef26	T	C	3: 62,247,146 (GRCm39)	S77P	probably benign	Het
Axl	A	G	7: 25,486,712 (GRCm39)		probably benign	Het
Card10	A	G	15: 78,664,675 (GRCm39)		probably null	Het
Ccdc71l	G	A	12: 32,429,251 (GRCm39)	S90N	probably damaging	Het
Cebpa	A	T	7: 34,819,624 (GRCm39)	T261S	probably benign	Het
Cnmd	T	C	14: 79,879,481 (GRCm39)	E219G	probably benign	Het
Cntln	T	A	4: 84,986,062 (GRCm39)	L1010H	probably damaging	Het
Cul9	A	G	17: 46,831,394 (GRCm39)		probably benign	Het
Cyld	A	G	8: 89,456,387 (GRCm39)	E479G	probably benign	Het
Dmp1	A	G	5: 104,360,092 (GRCm39)	E256G	probably benign	Het
Dnmt1	T	C	9: 20,822,846 (GRCm39)	D1140G	probably damaging	Het
Drd2	A	C	9: 49,318,374 (GRCm39)	M439L	probably benign	Het
Drd3	G	A	16: 43,643,077 (GRCm39)	V438M	probably damaging	Het
Dyrk3	A	G	1: 131,057,858 (GRCm39)	I70T	probably benign	Het
Fbxo38	T	C	18: 62,639,057 (GRCm39)	K1082E	probably damaging	Het
Fbxw10	A	C	11: 62,750,671 (GRCm39)	D428A	probably damaging	Het
Fmn1	T	A	2: 113,538,198 (GRCm39)		probably benign	Het
Fmnl2	A	T	2: 52,932,377 (GRCm39)	I119F	probably damaging	Het
Frmd4a	A	G	2: 4,610,834 (GRCm39)	T995A	probably damaging	Het
Gda	T	A	19: 21,402,901 (GRCm39)	I82F	probably damaging	Het
Gpatch4	T	A	3: 87,958,583 (GRCm39)	H22Q	probably damaging	Het
Gpr55	A	G	1: 85,869,225 (GRCm39)	F119L	probably benign	Het
Gtf2i	A	T	5: 134,290,723 (GRCm39)	L425*	probably null	Het
Knstrn	T	A	2: 118,661,461 (GRCm39)		probably benign	Het
Lipo2	T	A	19: 33,724,335 (GRCm39)	I144L	probably benign	Het
Lrp1	T	C	10: 127,377,463 (GRCm39)		probably null	Het
Mtmr14	T	C	6: 113,243,213 (GRCm39)		probably benign	Het
Nsmce4a	A	T	7: 130,135,536 (GRCm39)	S345R	probably benign	Het
Oacyl	T	A	18: 65,875,290 (GRCm39)	V385D	probably damaging	Het
Or6k8-ps1	G	A	1: 173,979,696 (GRCm39)	A205T	probably benign	Het
Or8b52	A	T	9: 38,576,808 (GRCm39)	C111S	probably benign	Het
Phlpp2	T	C	8: 110,603,603 (GRCm39)	S55P	probably benign	Het
Pkhd1l1	T	A	15: 44,390,150 (GRCm39)	V1422E	possibly damaging	Het
Plcd3	T	G	11: 102,971,013 (GRCm39)	H181P	probably benign	Het
Psmc5	G	A	11: 106,151,990 (GRCm39)		probably null	Het
Psmd11	T	C	11: 80,361,515 (GRCm39)		probably benign	Het
Rab39	T	C	9: 53,598,016 (GRCm39)	Y83C	probably damaging	Het
Ric8a	A	G	7: 140,440,806 (GRCm39)	E93G	probably damaging	Het
Rtp3	T	C	9: 110,816,152 (GRCm39)	E133G	possibly damaging	Het
Slc35e1	T	C	8: 73,246,415 (GRCm39)		probably benign	Het
Tent5c	A	G	3: 100,379,686 (GRCm39)	Y357H	probably benign	Het
Tmem63a	A	T	1: 180,788,659 (GRCm39)	E332V	probably benign	Het
Tnk1	T	C	11: 69,745,990 (GRCm39)	T312A	probably damaging	Het
Traf3ip3	G	T	1: 192,877,119 (GRCm39)		probably benign	Het
Trappc11	A	G	8: 47,980,014 (GRCm39)	V174A	possibly damaging	Het
Vmn1r174	G	A	7: 23,453,622 (GRCm39)	R96H	probably benign	Het
Vmn1r7	T	A	6: 57,001,450 (GRCm39)	Y270F	possibly damaging	Het
Vmn2r12	A	G	5: 109,240,714 (GRCm39)	V133A	probably benign	Het
Vmn2r18	T	A	5: 151,485,988 (GRCm39)	E502V	probably damaging	Het
Wipf3	C	A	6: 54,462,348 (GRCm39)	P186Q	probably damaging	Het
Yipf5	A	T	18: 40,345,215 (GRCm39)	M55K	probably benign	Het
Zbtb7a	G	A	10: 80,979,820 (GRCm39)	V5M	probably damaging	Het
Zfy1	G	T	Y: 726,040 (GRCm39)	S575Y	probably damaging	Het

Other mutations in Serpina1e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02249:Serpina1e	APN	12	103,917,393 (GRCm39)	missense	probably benign	0.22
IGL03186:Serpina1e	APN	12	103,915,462 (GRCm39)	missense	probably benign	0.05
BB004:Serpina1e	UTSW	12	103,917,450 (GRCm39)	missense	probably benign	0.06
BB014:Serpina1e	UTSW	12	103,917,450 (GRCm39)	missense	probably benign	0.06
R0517:Serpina1e	UTSW	12	103,915,486 (GRCm39)	missense	probably benign	0.00
R0547:Serpina1e	UTSW	12	103,915,450 (GRCm39)	missense	probably benign
R1797:Serpina1e	UTSW	12	103,917,150 (GRCm39)	missense	probably benign	0.21
R1964:Serpina1e	UTSW	12	103,917,466 (GRCm39)	missense	probably damaging	0.99
R2311:Serpina1e	UTSW	12	103,917,388 (GRCm39)	missense	possibly damaging	0.95
R3889:Serpina1e	UTSW	12	103,917,132 (GRCm39)	missense	probably damaging	1.00
R4671:Serpina1e	UTSW	12	103,914,341 (GRCm39)	missense	probably damaging	0.98
R5518:Serpina1e	UTSW	12	103,917,087 (GRCm39)	missense	probably damaging	0.99
R6038:Serpina1e	UTSW	12	103,913,095 (GRCm39)	splice site	probably null
R6038:Serpina1e	UTSW	12	103,913,095 (GRCm39)	splice site	probably null
R6150:Serpina1e	UTSW	12	103,917,066 (GRCm39)	missense	probably benign
R6826:Serpina1e	UTSW	12	103,915,397 (GRCm39)	missense	probably benign	0.30
R7002:Serpina1e	UTSW	12	103,914,338 (GRCm39)	missense	probably benign	0.00
R7144:Serpina1e	UTSW	12	103,913,277 (GRCm39)	makesense	probably null
R7734:Serpina1e	UTSW	12	103,917,151 (GRCm39)	missense	probably benign	0.01
R7927:Serpina1e	UTSW	12	103,917,450 (GRCm39)	missense	probably benign	0.06
R8158:Serpina1e	UTSW	12	103,917,354 (GRCm39)	missense	probably benign	0.00
R8276:Serpina1e	UTSW	12	103,913,428 (GRCm39)	missense	probably damaging	0.96
R8715:Serpina1e	UTSW	12	103,917,177 (GRCm39)	missense	probably benign	0.24
R9034:Serpina1e	UTSW	12	103,917,361 (GRCm39)	missense	probably benign	0.00
R9343:Serpina1e	UTSW	12	103,917,299 (GRCm39)	missense	probably benign	0.01
R9549:Serpina1e	UTSW	12	103,917,243 (GRCm39)	missense	possibly damaging	0.79
Z1176:Serpina1e	UTSW	12	103,917,568 (GRCm39)	missense	probably benign	0.00
Z1176:Serpina1e	UTSW	12	103,914,416 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AACAGAGCCTTGCCCTGCATAC -3'
(R):5'- GCAAATGGAAGAAGCCATTCGATCC -3'

Sequencing Primer
(F):5'- TGCATACTTGCCCAGAGAG -3'
(R):5'- GAAGCCATTCGATCCTGAGAAC -3'

Posted On

2013-06-12