Mutagenetix > Incidental Mutation

Incidental Mutation 'R6038:Serpina1e'

486697

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

044208-MU

Accession Numbers

Essential gene?

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

Stock #

R6038 (G1)

Quality Score

140.008

Status

Validated

Chromosome

Chromosomal Location

103913190-103923156 bp(-) (GRCm39)

Type of Mutation

splice site (95 bp from exon)

DNA Base Change (assembly)

A to T at 103913095 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113606 (fasta)

Gene Model

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

AlphaFold

Q00898

Predicted Effect

probably null
Transcript: ENSMUST00000085054

SMART Domains

Protein: ENSMUSP00000082130
Gene: ENSMUSG00000072849

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

Predicted Effect

probably null
Transcript: ENSMUST00000122229

SMART Domains

Protein: ENSMUSP00000113606
Gene: ENSMUSG00000072849

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

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.7%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	G	17: 46,615,286 (GRCm39)	C1327R	probably damaging	Het
Adcy7	A	G	8: 89,049,608 (GRCm39)	T704A	probably benign	Het
Adgra3	A	T	5: 50,156,487 (GRCm39)	Y414*	probably null	Het
Adgrf1	T	C	17: 43,606,100 (GRCm39)	S75P	probably benign	Het
Akirin1	A	G	4: 123,643,956 (GRCm39)	M1T	probably null	Het
Antxr1	C	A	6: 87,263,982 (GRCm39)		probably null	Het
Arid1b	A	T	17: 5,386,957 (GRCm39)	Y1470F	probably benign	Het
Baiap3	T	C	17: 25,465,308 (GRCm39)	D649G	probably damaging	Het
Cabin1	A	G	10: 75,575,200 (GRCm39)	V615A	probably benign	Het
Cntnap1	G	A	11: 101,075,462 (GRCm39)	R880Q	probably benign	Het
Col28a1	T	C	6: 8,013,140 (GRCm39)	T971A	probably benign	Het
Coro7	A	T	16: 4,497,414 (GRCm39)		probably null	Het
Cspg4b	G	A	13: 113,455,153 (GRCm39)	V400M	possibly damaging	Het
Defb19	T	G	2: 152,418,187 (GRCm39)		probably null	Het
Dnah17	T	C	11: 117,946,715 (GRCm39)	D3045G	probably benign	Het
Dock4	A	T	12: 40,783,350 (GRCm39)		probably null	Het
Egln3	A	G	12: 54,228,476 (GRCm39)	V210A	probably damaging	Het
Epb41l4a	T	C	18: 33,987,388 (GRCm39)	S330G	probably benign	Het
Epha7	G	A	4: 28,821,521 (GRCm39)	E229K	probably damaging	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Garin4	C	T	1: 190,894,919 (GRCm39)	E575K	probably damaging	Het
Garin5a	C	T	7: 44,149,719 (GRCm39)	R147W	probably damaging	Het
Garin5b	T	C	7: 4,756,594 (GRCm39)		probably null	Het
Gm29587	G	A	12: 74,269,309 (GRCm39)		probably null	Het
Gxylt2	T	A	6: 100,781,555 (GRCm39)	L410Q	probably damaging	Het
H2-M10.3	C	A	17: 36,679,287 (GRCm39)	C6F	probably benign	Het
Hecw1	G	T	13: 14,520,647 (GRCm39)	Q197K	probably benign	Het
Hk3	T	C	13: 55,154,373 (GRCm39)	M778V	probably benign	Het
Hydin	A	G	8: 111,325,663 (GRCm39)	T4691A	probably benign	Het
Larp1	A	G	11: 57,932,431 (GRCm39)	E204G	possibly damaging	Het
Lrp12	A	C	15: 39,735,776 (GRCm39)	W738G	probably damaging	Het
Mdga2	A	T	12: 66,676,827 (GRCm39)	D488E	probably damaging	Het
Mrc1	G	C	2: 14,261,882 (GRCm39)	W290C	probably damaging	Het
Mtrex	A	T	13: 113,027,824 (GRCm39)	S679T	probably benign	Het
Nhp2	T	C	11: 51,510,912 (GRCm39)	V55A	probably benign	Het
Nrm	T	C	17: 36,172,397 (GRCm39)	S41P	possibly damaging	Het
Or10ag54	T	A	2: 87,099,611 (GRCm39)	I141N	possibly damaging	Het
Or11g25	T	C	14: 50,723,677 (GRCm39)	L254P	probably damaging	Het
Or7e165	A	G	9: 19,694,858 (GRCm39)	Y143C	probably benign	Het
Osbpl7	C	T	11: 96,941,542 (GRCm39)	P22S	probably benign	Het
Pebp1	A	T	5: 117,422,170 (GRCm39)	L124Q	probably benign	Het
Pfkp	G	T	13: 6,648,005 (GRCm39)	H524N	probably benign	Het
Pnmt	G	A	11: 98,278,594 (GRCm39)	D187N	probably damaging	Het
Ppl	A	T	16: 4,920,445 (GRCm39)	I355K	possibly damaging	Het
Prom1	A	T	5: 44,159,135 (GRCm39)	Y836N	probably damaging	Het
Rubcnl	T	C	14: 75,269,410 (GRCm39)	S23P	probably benign	Het
Sap130	T	A	18: 31,813,539 (GRCm39)	I532N	probably damaging	Het
Slc12a3	T	G	8: 95,057,100 (GRCm39)	S124R	probably benign	Het
Slc24a5	A	G	2: 124,927,651 (GRCm39)	T317A	probably benign	Het
Smarcad1	T	C	6: 65,050,232 (GRCm39)	S284P	possibly damaging	Het
Spag9	C	G	11: 94,002,918 (GRCm39)	R724G	probably damaging	Het
Speg	T	C	1: 75,395,103 (GRCm39)		probably null	Het
Steap3	A	G	1: 120,169,371 (GRCm39)	Y271H	probably damaging	Het
Syne2	C	T	12: 75,925,158 (GRCm39)	Q44*	probably null	Het
Tas2r114	A	T	6: 131,666,444 (GRCm39)	C195S	possibly damaging	Het
Tcl1b4	T	C	12: 105,168,766 (GRCm39)	M10T	possibly damaging	Het
Tln1	G	C	4: 43,555,052 (GRCm39)	F259L	probably damaging	Het
Vmn2r60	C	A	7: 41,844,386 (GRCm39)	A583D	probably benign	Het
Wdhd1	T	C	14: 47,501,037 (GRCm39)	Q455R	possibly damaging	Het
Wdr17	A	G	8: 55,085,346 (GRCm39)		probably null	Het
Xbp1	T	C	11: 5,474,798 (GRCm39)	L233P	probably benign	Het
Zbtb17	A	G	4: 141,191,752 (GRCm39)	E288G	probably benign	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
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'- ACCCTGAGTCTTTGAGCATG -3'
(R):5'- AGTCATCCTTCCTTCTGAATTGGG -3'

Sequencing Primer
(F):5'- ACCCTGAGTCTTTGAGCATGAACTG -3'
(R):5'- GGGTTCCTTTCCATTAAACACGGG -3'

Posted On

2017-08-16