Incidental Mutation 'R2887:Serpina3c'
| ID |
261088 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Serpina3c
|
| Ensembl Gene |
ENSMUSG00000066361 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade A, member 3C |
| Synonyms |
1A1, Klkbp, alpha-1 antiproteinase, Kalbp |
| MMRRC Submission |
040475-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2887 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
104113166-104120187 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 104113549 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 399
(H399R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082125
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085050]
|
| AlphaFold |
P29621 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085050
AA Change: H399R
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000082125
Gene: ENSMUSG00000066361
AA Change: H399R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
SERPIN
|
56 |
414 |
1.26e-194 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(2) : Targeted, other(2) |
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810009A15Rik |
T |
C |
19: 8,867,395 (GRCm39) |
S65P |
probably damaging |
Het |
| Adamts20 |
C |
T |
15: 94,228,459 (GRCm39) |
R996H |
probably benign |
Het |
| Aurka |
A |
G |
2: 172,209,040 (GRCm39) |
S54P |
probably benign |
Het |
| Clec7a |
C |
T |
6: 129,447,960 (GRCm39) |
G35E |
probably damaging |
Het |
| Clock |
G |
A |
5: 76,393,120 (GRCm39) |
R239C |
probably damaging |
Het |
| Eefsec |
T |
C |
6: 88,235,341 (GRCm39) |
T214A |
probably benign |
Het |
| Emg1 |
T |
C |
6: 124,682,026 (GRCm39) |
H166R |
probably damaging |
Het |
| Fibin |
T |
A |
2: 110,193,122 (GRCm39) |
I7F |
probably benign |
Het |
| Golm1 |
G |
T |
13: 59,788,044 (GRCm39) |
T285K |
probably benign |
Het |
| Ivl |
C |
A |
3: 92,478,699 (GRCm39) |
R455S |
unknown |
Het |
| Lama4 |
A |
C |
10: 38,968,250 (GRCm39) |
Q1464P |
possibly damaging |
Het |
| Lamp1 |
T |
A |
8: 13,223,891 (GRCm39) |
L341H |
probably damaging |
Het |
| Or13a28 |
A |
T |
7: 140,218,138 (GRCm39) |
I175F |
probably damaging |
Het |
| Ppp1r3a |
T |
G |
6: 14,718,248 (GRCm39) |
S889R |
possibly damaging |
Het |
| Ptprc |
A |
G |
1: 138,007,916 (GRCm39) |
V711A |
probably damaging |
Het |
| Rimklb |
T |
C |
6: 122,449,657 (GRCm39) |
T6A |
probably benign |
Het |
| Slc35a5 |
A |
G |
16: 44,971,923 (GRCm39) |
C114R |
probably damaging |
Het |
| Slc7a13 |
A |
G |
4: 19,819,052 (GRCm39) |
Y84C |
possibly damaging |
Het |
| Tcf7l1 |
G |
A |
6: 72,609,071 (GRCm39) |
S297L |
probably damaging |
Het |
| Vmn2r98 |
G |
T |
17: 19,301,439 (GRCm39) |
A814S |
possibly damaging |
Het |
| Zfp14 |
G |
T |
7: 29,738,190 (GRCm39) |
T265K |
probably damaging |
Het |
|
| Other mutations in Serpina3c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00690:Serpina3c
|
APN |
12 |
104,118,198 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL03344:Serpina3c
|
APN |
12 |
104,113,523 (GRCm39) |
missense |
probably benign |
|
|
N/A:Serpina3c
|
UTSW |
12 |
104,115,864 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0792:Serpina3c
|
UTSW |
12 |
104,117,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1522:Serpina3c
|
UTSW |
12 |
104,117,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1875:Serpina3c
|
UTSW |
12 |
104,118,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2168:Serpina3c
|
UTSW |
12 |
104,115,628 (GRCm39) |
splice site |
probably null |
|
|
R2207:Serpina3c
|
UTSW |
12 |
104,117,757 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5115:Serpina3c
|
UTSW |
12 |
104,113,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5159:Serpina3c
|
UTSW |
12 |
104,115,771 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5275:Serpina3c
|
UTSW |
12 |
104,114,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5295:Serpina3c
|
UTSW |
12 |
104,114,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5389:Serpina3c
|
UTSW |
12 |
104,115,699 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5908:Serpina3c
|
UTSW |
12 |
104,117,970 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6151:Serpina3c
|
UTSW |
12 |
104,118,327 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6182:Serpina3c
|
UTSW |
12 |
104,115,690 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6608:Serpina3c
|
UTSW |
12 |
104,115,883 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6615:Serpina3c
|
UTSW |
12 |
104,117,980 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6751:Serpina3c
|
UTSW |
12 |
104,117,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6777:Serpina3c
|
UTSW |
12 |
104,118,069 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7232:Serpina3c
|
UTSW |
12 |
104,115,771 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8129:Serpina3c
|
UTSW |
12 |
104,118,056 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9310:Serpina3c
|
UTSW |
12 |
104,115,813 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9761:Serpina3c
|
UTSW |
12 |
104,118,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACGGAGATAGTCAATGTCGC -3'
(R):5'- ACTCACTGCTTGCTCCAGAC -3'
Sequencing Primer
(F):5'- GAGATAGTCAATGTCGCTGTCTAAG -3'
(R):5'- ACTGCTTGCTCCAGACCACTC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation