Incidental Mutation 'R5295:Serpina3c'
| ID |
405368 |
| 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 |
042878-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5295 (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 104114637 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 333
(E333G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082125
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085050]
|
| AlphaFold |
P29621 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000085050
AA Change: E333G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000082125
Gene: ENSMUSG00000066361
AA Change: E333G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
SERPIN
|
56 |
414 |
1.26e-194 |
SMART |
|
| Meta Mutation Damage Score |
0.3478 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(2) : Targeted, other(2) |
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk2 |
C |
T |
18: 65,438,109 (GRCm39) |
E1095K |
probably damaging |
Het |
| Alpl |
T |
C |
4: 137,476,919 (GRCm39) |
T245A |
probably benign |
Het |
| Ank2 |
T |
C |
3: 126,825,832 (GRCm39) |
H378R |
probably damaging |
Het |
| Arhgef1 |
G |
A |
7: 24,618,777 (GRCm39) |
|
probably null |
Het |
| Atp5f1c |
T |
C |
2: 10,073,544 (GRCm39) |
R10G |
possibly damaging |
Het |
| Cbln3 |
T |
C |
14: 56,120,920 (GRCm39) |
|
probably null |
Het |
| Ccr10 |
C |
T |
11: 101,065,111 (GRCm39) |
V140M |
possibly damaging |
Het |
| Cep135 |
T |
A |
5: 76,741,051 (GRCm39) |
H42Q |
possibly damaging |
Het |
| Commd5 |
C |
A |
15: 76,785,152 (GRCm39) |
T183K |
possibly damaging |
Het |
| Dnajc16 |
T |
C |
4: 141,495,239 (GRCm39) |
E493G |
possibly damaging |
Het |
| Ears2 |
T |
C |
7: 121,647,421 (GRCm39) |
R288G |
probably damaging |
Het |
| Elovl4 |
G |
A |
9: 83,662,714 (GRCm39) |
P273L |
possibly damaging |
Het |
| Fam186b |
T |
A |
15: 99,181,755 (GRCm39) |
I148F |
probably damaging |
Het |
| Fryl |
T |
C |
5: 73,270,134 (GRCm39) |
Y79C |
probably damaging |
Het |
| Gad1-ps |
A |
G |
10: 99,280,751 (GRCm39) |
|
noncoding transcript |
Het |
| Gm14325 |
G |
A |
2: 177,474,777 (GRCm39) |
H102Y |
possibly damaging |
Het |
| Ighv1-77 |
T |
A |
12: 115,825,528 (GRCm39) |
S104C |
probably damaging |
Het |
| Kcnv1 |
T |
C |
15: 44,977,987 (GRCm39) |
D17G |
unknown |
Het |
| Lmtk3 |
G |
A |
7: 45,440,722 (GRCm39) |
D243N |
probably damaging |
Het |
| Lrrc7 |
T |
A |
3: 157,876,376 (GRCm39) |
K571N |
probably damaging |
Het |
| Lsm7 |
T |
C |
10: 80,690,454 (GRCm39) |
E32G |
probably damaging |
Het |
| Ly6f |
A |
G |
15: 75,143,488 (GRCm39) |
Q65R |
probably benign |
Het |
| Perm1 |
T |
C |
4: 156,301,975 (GRCm39) |
L173P |
probably benign |
Het |
| Plvap |
T |
C |
8: 71,964,314 (GRCm39) |
Q16R |
probably benign |
Het |
| Prb1c |
T |
G |
6: 132,338,840 (GRCm39) |
Q126P |
unknown |
Het |
| Prl7d1 |
A |
T |
13: 27,893,230 (GRCm39) |
V227D |
probably damaging |
Het |
| Prss54 |
T |
C |
8: 96,291,106 (GRCm39) |
T165A |
probably damaging |
Het |
| Psrc1 |
A |
G |
3: 108,293,675 (GRCm39) |
I195V |
probably benign |
Het |
| Rnf123 |
AT |
ATT |
9: 107,941,202 (GRCm39) |
|
probably null |
Het |
| Rnf213 |
A |
T |
11: 119,331,642 (GRCm39) |
T2284S |
probably benign |
Het |
| Serpinb6c |
A |
G |
13: 34,077,800 (GRCm39) |
F190S |
probably damaging |
Het |
| Sfmbt1 |
G |
A |
14: 30,495,986 (GRCm39) |
D90N |
probably damaging |
Het |
| Tdh |
T |
C |
14: 63,733,558 (GRCm39) |
Y110C |
probably damaging |
Het |
| Tdrd9 |
T |
A |
12: 112,018,346 (GRCm39) |
L1255* |
probably null |
Het |
| Trim41 |
TTCCTCCTCCTCCTCCTCCTCCTCCTCC |
TTCCTCCTCCTCCTCCTCCTCCTCC |
11: 48,707,084 (GRCm39) |
|
probably benign |
Het |
| Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
| Zbtb2 |
T |
C |
10: 4,318,508 (GRCm39) |
K506R |
probably damaging |
Het |
| Zmiz1 |
T |
C |
14: 25,656,771 (GRCm39) |
L800P |
probably damaging |
Het |
| Znhit6 |
A |
G |
3: 145,306,248 (GRCm39) |
D251G |
probably benign |
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 |
|
R2887:Serpina3c
|
UTSW |
12 |
104,113,549 (GRCm39) |
missense |
probably benign |
0.03 |
|
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 |
|
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'- TGGGCTCCTAGGTGAGCTAATG -3'
(R):5'- TTTGTGGAGAGGAGACCCAG -3'
Sequencing Primer
(F):5'- CTCCTAGGTGAGCTAATGTACAG -3'
(R):5'- ACCCAGCGACATGGTTGATTG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation