Mutagenetix > Incidental Mutation

Incidental Mutation 'R9343:Serpina1e'

715994

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

Accession Numbers

Essential gene?

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

Stock #

R9343 (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 A at 103917299 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 123 (R123S)

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: R123S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000082130
Gene: ENSMUSG00000072849
AA Change: R123S

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: R123S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000113606
Gene: ENSMUSG00000072849
AA Change: R123S

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: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (45/45)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	A	G	2: 103,547,505 (GRCm39)	I960V	probably benign	Het
Alpk3	A	G	7: 80,742,079 (GRCm39)	D632G	probably benign	Het
Aplp2	A	T	9: 31,122,935 (GRCm39)	L30Q	unknown	Het
Axl	A	T	7: 25,473,544 (GRCm39)	Y361N	probably damaging	Het
Brinp2	A	T	1: 158,077,090 (GRCm39)		probably benign	Het
Bsn	T	C	9: 107,992,701 (GRCm39)	D1017G	probably damaging	Het
Cc2d2a	A	T	5: 43,875,999 (GRCm39)	D1046V	probably damaging	Het
Cdc42bpg	G	A	19: 6,364,553 (GRCm39)	G594S	probably damaging	Het
Clcn6	A	G	4: 148,098,458 (GRCm39)	S519P	probably benign	Het
Cnot2	T	G	10: 116,346,326 (GRCm39)	H92P		Het
Col2a1	T	C	15: 97,877,775 (GRCm39)	D1049G	probably damaging	Het
Creld1	C	T	6: 113,466,728 (GRCm39)	A237V	probably benign	Het
Csf2rb2	A	T	15: 78,171,287 (GRCm39)		probably benign	Het
Csmd3	G	A	15: 48,015,001 (GRCm39)	T643I	probably damaging	Het
Fam186b	G	A	15: 99,177,616 (GRCm39)	A570V	probably damaging	Het
Fcmr	A	T	1: 130,802,072 (GRCm39)	T109S		Het
Grap	C	A	11: 61,562,551 (GRCm39)	P174Q	possibly damaging	Het
Itgb5	T	A	16: 33,730,826 (GRCm39)		probably benign	Het
Kidins220	A	G	12: 25,058,078 (GRCm39)	N561S	probably damaging	Het
Mri1	A	T	8: 84,983,796 (GRCm39)	S32T	probably benign	Het
Mrtfb	T	C	16: 13,218,791 (GRCm39)	V479A	probably benign	Het
Muc4	A	T	16: 32,569,971 (GRCm39)	T344S	possibly damaging	Het
Npc1	A	G	18: 12,334,769 (GRCm39)	I661T	possibly damaging	Het
Npy1r	A	G	8: 67,156,751 (GRCm39)	N57S	probably damaging	Het
Pds5b	A	G	5: 150,704,186 (GRCm39)	D863G	probably damaging	Het
Phf14	T	A	6: 11,961,563 (GRCm39)	V400D	probably damaging	Het
Polr2l	A	G	7: 141,053,246 (GRCm39)	I56T	probably benign	Het
Ppat	A	G	5: 77,063,884 (GRCm39)	I422T	probably benign	Het
Prkcg	T	A	7: 3,359,124 (GRCm39)	S110R	possibly damaging	Het
Rab7b	A	T	1: 131,639,540 (GRCm39)		probably benign	Het
Rnf152	A	T	1: 105,212,251 (GRCm39)	L102Q		Het
Samd12	A	G	15: 53,583,088 (GRCm39)	V82A	probably damaging	Het
Slit1	T	A	19: 41,615,737 (GRCm39)	N794I	probably damaging	Het
Surf6	T	C	2: 26,783,006 (GRCm39)	K154R	probably damaging	Het
Tln2	C	T	9: 67,230,353 (GRCm39)	A71T	probably benign	Het
Trim3	A	G	7: 105,260,673 (GRCm39)	Y649H	probably benign	Het
Ttll7	T	A	3: 146,667,497 (GRCm39)	W808R	probably damaging	Het
Tvp23a	T	C	16: 10,245,287 (GRCm39)	D104G	probably damaging	Het
Upp2	A	G	2: 58,645,339 (GRCm39)		probably benign	Het
Vipr1	G	A	9: 121,471,993 (GRCm39)		probably null	Het
Vmn1r119	A	G	7: 20,746,358 (GRCm39)	V8A	probably benign	Het
Vmn1r209	T	A	13: 22,990,546 (GRCm39)	H48L	probably damaging	Het
Wdr11	T	C	7: 129,232,523 (GRCm39)		probably null	Het
Zcchc17	T	C	4: 130,210,546 (GRCm39)	D207G	probably damaging	Het
Zfp78	T	C	7: 6,381,942 (GRCm39)	S331P	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
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
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
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'- GGGTTCCCTTCTCCACAAAATC -3'
(R):5'- CAAACCTGGGAGACTTTGCC -3'

Sequencing Primer
(F):5'- AAATCATTAATCACTTTCTTGGCCTC -3'
(R):5'- GGGAGACTTTGCCATCAGTCTATAC -3'

Posted On

2022-06-15