Mutagenetix > Incidental Mutation

Incidental Mutation 'R4671:Serpina1e'

348451

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

Accession Numbers

Essential gene?

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

Stock #

R4671 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103913190-103923156 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 103914341 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 328 (R328W)

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: R328W

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000082130
Gene: ENSMUSG00000072849
AA Change: R328W

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: R328W

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113606
Gene: ENSMUSG00000072849
AA Change: R328W

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	T	C	19: 43,789,157 (GRCm39)	S271P	probably benign	Het
Acod1	T	G	14: 103,284,508 (GRCm39)	M2R	probably benign	Het
Adamts20	T	C	15: 94,301,206 (GRCm39)	E106G	possibly damaging	Het
Adgra3	G	A	5: 50,136,710 (GRCm39)	T661M	probably damaging	Het
Akap13	T	A	7: 75,229,312 (GRCm39)	C161*	probably null	Het
Akr1c12	A	C	13: 4,323,816 (GRCm39)	S162A	possibly damaging	Het
Anks1	C	A	17: 28,270,552 (GRCm39)	H805N	probably benign	Het
Arhgap22	T	C	14: 33,084,500 (GRCm39)	C260R	probably damaging	Het
Banf1	T	C	19: 5,415,872 (GRCm39)	R33G	probably benign	Het
Bcas1	T	C	2: 170,226,245 (GRCm39)	K310R	probably damaging	Het
Cacna1c	G	T	6: 118,629,019 (GRCm39)	H1240N	probably damaging	Het
Cartpt	C	T	13: 100,036,588 (GRCm39)		probably null	Het
Ccdc127	T	A	13: 74,505,164 (GRCm39)	Y237*	probably null	Het
Ccnb1ip1	A	T	14: 51,029,734 (GRCm39)	Y109*	probably null	Het
Cenpj	A	T	14: 56,790,840 (GRCm39)	V403E	possibly damaging	Het
Cps1	A	G	1: 67,235,719 (GRCm39)	Y951C	probably damaging	Het
Dcakd	T	C	11: 102,890,634 (GRCm39)	E51G	possibly damaging	Het
Dennd4a	A	T	9: 64,801,689 (GRCm39)	N944I	probably benign	Het
Dus3l	C	T	17: 57,075,566 (GRCm39)	R430C	probably benign	Het
Dync2h1	A	G	9: 7,169,640 (GRCm39)	L279P	possibly damaging	Het
Dzip3	G	A	16: 48,799,953 (GRCm39)	Q112*	probably null	Het
Eif1ad	T	A	19: 5,418,219 (GRCm39)	M1K	probably null	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fancg	T	C	4: 43,005,272 (GRCm39)	E366G	probably benign	Het
Gin1	C	T	1: 97,712,565 (GRCm39)	P154S	probably damaging	Het
Gm11938	A	T	11: 99,493,832 (GRCm39)	C88S	possibly damaging	Het
Gpr183	T	C	14: 122,192,149 (GRCm39)	D124G	probably damaging	Het
Gucy2g	T	A	19: 55,226,500 (GRCm39)	I139F	probably damaging	Het
Iqub	A	T	6: 24,479,183 (GRCm39)	M453K	probably benign	Het
Jcad	A	G	18: 4,674,175 (GRCm39)	T646A	probably benign	Het
Kif23	A	T	9: 61,852,641 (GRCm39)	D24E	probably benign	Het
Kmt2c	T	C	5: 25,571,175 (GRCm39)	N845S	probably damaging	Het
Lhx5	G	A	5: 120,578,032 (GRCm39)	S284N	probably benign	Het
Lipf	T	G	19: 33,954,076 (GRCm39)	V389G	possibly damaging	Het
Lrrc7	C	T	3: 157,908,132 (GRCm39)		probably null	Het
Magi1	A	G	6: 93,657,768 (GRCm39)		probably null	Het
Mast2	A	G	4: 116,165,847 (GRCm39)	S1287P	probably damaging	Het
Mepce	C	T	5: 137,784,905 (GRCm39)		probably benign	Het
Mkrn1	A	G	6: 39,382,691 (GRCm39)	V173A	probably damaging	Het
Myo1c	C	T	11: 75,560,856 (GRCm39)	R770*	probably null	Het
Naip6	A	G	13: 100,431,239 (GRCm39)		probably null	Het
Nsmce3	A	T	7: 64,522,530 (GRCm39)	L46Q	probably benign	Het
Or1n2	G	A	2: 36,797,405 (GRCm39)	C149Y	probably benign	Het
Or2j6	T	G	7: 139,980,218 (GRCm39)	Y247S	probably damaging	Het
Or4k44	A	T	2: 111,368,280 (GRCm39)	M118K	probably damaging	Het
Or51e2	A	G	7: 102,391,808 (GRCm39)	V134A	probably damaging	Het
Or56a3b	T	C	7: 104,771,513 (GRCm39)	L283P	probably damaging	Het
Parp14	A	G	16: 35,678,691 (GRCm39)	F426L	probably benign	Het
Pcf11	A	T	7: 92,306,737 (GRCm39)	S1144T	possibly damaging	Het
Prpf3	T	A	3: 95,758,976 (GRCm39)	T59S	possibly damaging	Het
Ptgir	A	G	7: 16,640,794 (GRCm39)	M29V	possibly damaging	Het
Ptk7	A	G	17: 46,885,392 (GRCm39)	V678A	probably benign	Het
Rb1	A	G	14: 73,511,116 (GRCm39)	L331S	probably damaging	Het
Relch	A	G	1: 105,646,584 (GRCm39)	I637V	probably benign	Het
Sell	A	G	1: 163,893,042 (GRCm39)	Y86C	probably damaging	Het
Sertad3	T	G	7: 27,176,091 (GRCm39)	L175R	possibly damaging	Het
Stard9	G	T	2: 120,529,121 (GRCm39)	G1793W	probably damaging	Het
Stra6	T	C	9: 58,056,517 (GRCm39)	I383T	probably benign	Het
Tcf7l1	A	G	6: 72,626,161 (GRCm39)	L154P	probably damaging	Het
Tent5c	C	A	3: 100,380,515 (GRCm39)	L80F	probably benign	Het
Tonsl	A	T	15: 76,507,610 (GRCm39)	D55E	probably benign	Het
Ttc21b	A	G	2: 66,057,257 (GRCm39)	S572P	possibly damaging	Het
Ttc7	T	A	17: 87,654,048 (GRCm39)	L575Q	probably damaging	Het
Ubl4b	C	T	3: 107,462,194 (GRCm39)	S22N	probably damaging	Het
Ubr4	T	C	4: 139,163,502 (GRCm39)	V2634A	possibly damaging	Het
Zbed6	A	G	1: 133,584,778 (GRCm39)	V853A	probably benign	Het
Zfp46	A	C	4: 136,017,484 (GRCm39)	D106A	probably damaging	Het
Zfp951	A	C	5: 104,962,567 (GRCm39)	I333S	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
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'- TCCTGACAGTCCTCAGAAAGAC -3'
(R):5'- TTCAGTGTGAGAACCAGCCAG -3'

Sequencing Primer
(F):5'- GTCCTCAGAAAGACCTTAGCCTGG -3'
(R):5'- GCCAGAAATTATTCCACAACTGGGTG -3'

Posted On

2015-10-08