Mutagenetix > Incidental Mutation

Incidental Mutation 'R8715:Serpina1e'

669837

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

068613-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R8715 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103913190-103923156 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103917177 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 164 (N164S)

Ref Sequence

ENSEMBL: ENSMUSP00000082130 (fasta)

Gene Model

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

AlphaFold

Q00898

Predicted Effect

probably benign
Transcript: ENSMUST00000085054
AA Change: N164S

PolyPhen 2 Score 0.240 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000082130
Gene: ENSMUSG00000072849
AA Change: N164S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000122229
AA Change: N164S

PolyPhen 2 Score 0.240 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000113606
Gene: ENSMUSG00000072849
AA Change: N164S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	A	T	5: 8,862,750 (GRCm39)	H144L	probably benign	Het
Adam25	A	G	8: 41,207,099 (GRCm39)	N122D	probably benign	Het
Armc10	T	C	5: 21,858,516 (GRCm39)	F187S	possibly damaging	Het
Atosb	A	G	4: 43,033,944 (GRCm39)	V444A	possibly damaging	Het
Best3	T	A	10: 116,828,971 (GRCm39)	F84I	probably damaging	Het
Card11	A	T	5: 140,871,315 (GRCm39)	D729E	probably benign	Het
Ccdc60	A	T	5: 116,328,153 (GRCm39)	F104I	probably benign	Het
Ccdc88b	T	C	19: 6,833,213 (GRCm39)	E278G	probably damaging	Het
Cd209d	CAT	C	8: 3,923,772 (GRCm39)		probably null	Het
Cdhr4	G	A	9: 107,874,596 (GRCm39)	V9M		Het
Cfap46	T	C	7: 139,185,560 (GRCm39)	T41A		Het
Cyp2c66	A	G	19: 39,159,388 (GRCm39)	T280A	probably benign	Het
Dis3l	C	T	9: 64,214,342 (GRCm39)	D1049N	probably benign	Het
Dlc1	T	A	8: 37,405,795 (GRCm39)		probably benign	Het
Faap100	T	C	11: 120,265,299 (GRCm39)	T526A	probably benign	Het
Gimap6	A	T	6: 48,679,552 (GRCm39)	D161E	probably damaging	Het
Gmpr	T	C	13: 45,696,102 (GRCm39)	V282A	possibly damaging	Het
Gsap	A	G	5: 21,431,245 (GRCm39)	I190V	possibly damaging	Het
Gucy2d	C	T	7: 98,093,319 (GRCm39)	T232I	probably benign	Het
Lgals4	C	T	7: 28,540,921 (GRCm39)	R282C	probably damaging	Het
Lrp1	C	A	10: 127,396,490 (GRCm39)	S2358I	possibly damaging	Het
Lrrc74a	A	G	12: 86,805,239 (GRCm39)	N354D	probably damaging	Het
Mdga2	T	C	12: 66,915,526 (GRCm39)	E112G	probably damaging	Het
Msh6	C	T	17: 88,293,195 (GRCm39)	T650I	probably benign	Het
Mst1	T	C	9: 107,959,242 (GRCm39)	V203A	possibly damaging	Het
Muc1	G	A	3: 89,138,821 (GRCm39)	V477M	possibly damaging	Het
Naa11	A	G	5: 97,540,066 (GRCm39)	Y31H	probably damaging	Het
Nphp1	G	T	2: 127,605,729 (GRCm39)	H365Q	possibly damaging	Het
Or1p4-ps1	T	A	11: 74,207,986 (GRCm39)	I45N	probably damaging	Het
Or2y17	A	T	11: 49,232,154 (GRCm39)	Y265F	probably damaging	Het
Or5m13	G	A	2: 85,748,273 (GRCm39)	M1I	probably null	Het
Osbpl9	A	G	4: 108,959,773 (GRCm39)	F15S	probably benign	Het
Pcdha12	A	C	18: 37,153,523 (GRCm39)	N81H	probably damaging	Het
Pde4d	A	G	13: 110,071,876 (GRCm39)	Q290R	probably benign	Het
Pla1a	A	T	16: 38,230,000 (GRCm39)	N237K	probably damaging	Het
Podnl1	T	C	8: 84,855,956 (GRCm39)	Y239H		Het
Pou4f3	G	T	18: 42,528,593 (GRCm39)	D179Y	possibly damaging	Het
Ptch2	T	C	4: 116,968,719 (GRCm39)	V995A	probably damaging	Het
Ptprt	C	T	2: 161,372,463 (GRCm39)	C1403Y	probably damaging	Het
Rab7	T	C	6: 87,989,369 (GRCm39)	S34G	probably damaging	Het
Rspry1	A	G	8: 95,349,888 (GRCm39)	E92G	probably damaging	Het
Sdccag8	T	A	1: 176,773,803 (GRCm39)		probably benign	Het
Sdk2	G	A	11: 113,671,728 (GRCm39)	T2140M	probably damaging	Het
Shisal1	A	C	15: 84,301,346 (GRCm39)	V99G	probably damaging	Het
Tdrkh	T	C	3: 94,331,968 (GRCm39)	V131A	probably damaging	Het
Tm9sf3	T	A	19: 41,244,724 (GRCm39)	N51I	probably damaging	Het
Trav4-3	A	G	14: 53,836,762 (GRCm39)	N76D	possibly damaging	Het
Trhr2	T	A	8: 123,085,619 (GRCm39)	I122F	probably damaging	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Vmn2r99	A	T	17: 19,613,922 (GRCm39)		probably benign	Het
Zfp663	T	C	2: 165,194,644 (GRCm39)	E525G	probably damaging	Het
Zfp976	C	T	7: 42,262,869 (GRCm39)	E324K	possibly 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
R0529:Serpina1e	UTSW	12	103,915,363 (GRCm39)	missense	probably damaging	1.00
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
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'- CATGAAAGCTCAGAAACTGGTCC -3'
(R):5'- CAAACATCGGAGGCTGACATC -3'

Sequencing Primer
(F):5'- CCTCAAGAATATGTATGGGTGTCTCC -3'
(R):5'- TCGGAGGCTGACATCCACAATTC -3'

Posted On

2021-04-30