Incidental Mutation 'R2311:Serpina1e'
| ID |
245352 |
| 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 |
040310-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R2311 (G1)
|
| Quality Score |
115 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
103913190-103923156 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 103917388 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 94
(I94F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113606
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085054]
[ENSMUST00000122229]
|
| AlphaFold |
Q00898 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000085054
AA Change: I94F
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000082130
Gene: ENSMUSG00000072849
AA Change: I94F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
18 |
N/A |
INTRINSIC |
|
SERPIN
|
53 |
410 |
3.17e-200 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000122229
AA Change: I94F
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000113606
Gene: ENSMUSG00000072849
AA Change: I94F
| 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 |
0.8365 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
100% (41/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apol7e |
G |
A |
15: 77,602,236 (GRCm39) |
R278H |
probably benign |
Het |
| Arhgef17 |
A |
G |
7: 100,578,111 (GRCm39) |
S946P |
probably benign |
Het |
| Capsl |
A |
T |
15: 9,462,689 (GRCm39) |
R110* |
probably null |
Het |
| Ddx41 |
G |
A |
13: 55,682,293 (GRCm39) |
R205W |
possibly damaging |
Het |
| Dock8 |
T |
A |
19: 25,160,368 (GRCm39) |
I1757N |
possibly damaging |
Het |
| Dthd1 |
T |
C |
5: 62,996,580 (GRCm39) |
|
probably benign |
Het |
| Eif5a2 |
A |
G |
3: 28,836,325 (GRCm39) |
E42G |
possibly damaging |
Het |
| Elovl3 |
A |
G |
19: 46,121,639 (GRCm39) |
S61G |
probably benign |
Het |
| Elp4 |
T |
C |
2: 105,672,677 (GRCm39) |
N136S |
probably benign |
Het |
| Elp6 |
A |
G |
9: 110,149,886 (GRCm39) |
S223G |
probably benign |
Het |
| Eml1 |
T |
A |
12: 108,503,675 (GRCm39) |
D743E |
probably damaging |
Het |
| Ezh2 |
T |
C |
6: 47,535,194 (GRCm39) |
Q85R |
probably damaging |
Het |
| Fermt3 |
C |
A |
19: 6,991,530 (GRCm39) |
C194F |
probably damaging |
Het |
| Flg |
A |
G |
3: 93,200,260 (GRCm39) |
|
probably benign |
Het |
| Gfi1b |
C |
T |
2: 28,500,186 (GRCm39) |
G282R |
probably damaging |
Het |
| Gpr176 |
A |
T |
2: 118,109,927 (GRCm39) |
I444K |
probably benign |
Het |
| Gvin-ps3 |
T |
C |
7: 105,682,797 (GRCm39) |
K153E |
probably damaging |
Het |
| Gys2 |
A |
T |
6: 142,408,970 (GRCm39) |
M95K |
possibly damaging |
Het |
| Hgs |
C |
T |
11: 120,370,474 (GRCm39) |
R167W |
probably damaging |
Het |
| Map3k20 |
T |
C |
2: 72,198,784 (GRCm39) |
I130T |
probably damaging |
Het |
| Nckap5 |
A |
T |
1: 126,456,489 (GRCm39) |
Y25N |
probably damaging |
Het |
| Npc1 |
C |
T |
18: 12,335,240 (GRCm39) |
V629I |
probably benign |
Het |
| Nrl |
C |
A |
14: 55,759,909 (GRCm39) |
S6I |
probably damaging |
Het |
| Or10am5 |
A |
T |
7: 6,517,741 (GRCm39) |
M229K |
probably benign |
Het |
| Or4c29 |
T |
A |
2: 88,739,813 (GRCm39) |
D308V |
probably benign |
Het |
| Or5d37 |
T |
C |
2: 87,924,178 (GRCm39) |
N34S |
probably benign |
Het |
| Oxct2b |
T |
C |
4: 123,011,211 (GRCm39) |
F377S |
probably damaging |
Het |
| Plb1 |
T |
C |
5: 32,427,162 (GRCm39) |
S91P |
probably benign |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Postn |
A |
T |
3: 54,292,644 (GRCm39) |
Y737F |
probably damaging |
Het |
| Serpine2 |
A |
G |
1: 79,788,265 (GRCm39) |
|
probably benign |
Het |
| Stox2 |
T |
C |
8: 47,645,013 (GRCm39) |
R816G |
probably damaging |
Het |
| Tep1 |
T |
C |
14: 51,071,024 (GRCm39) |
N2092D |
possibly damaging |
Het |
| Tmem186 |
A |
G |
16: 8,453,748 (GRCm39) |
V171A |
probably benign |
Het |
| Trim58 |
G |
A |
11: 58,533,934 (GRCm39) |
V163M |
probably benign |
Het |
| Trim59 |
G |
T |
3: 68,945,162 (GRCm39) |
C59* |
probably null |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
| Vill |
A |
G |
9: 118,894,965 (GRCm39) |
N61S |
probably benign |
Het |
| Zer1 |
C |
T |
2: 29,991,834 (GRCm39) |
R662H |
probably damaging |
Het |
| Zfp644 |
A |
C |
5: 106,782,822 (GRCm39) |
V1184G |
probably benign |
Het |
| Zfp974 |
A |
G |
7: 27,609,866 (GRCm39) |
S620P |
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 |
|
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'- AGTTGACAGAGAAGACTTCTGC -3'
(R):5'- ACCTCCCAGAAGGATCAGTC -3'
Sequencing Primer
(F):5'- GAAGACTTCTGCCTGATAATGGTTC -3'
(R):5'- GAAGGATCAGTCCCCAGCCTC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation