Incidental Mutation 'R4388:Serpina3n'
| ID |
326315 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Serpina3n
|
| Ensembl Gene |
ENSMUSG00000021091 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade A, member 3N |
| Synonyms |
antitrypsin, Spi2/eb.4, alpha-1 antiproteinase, Spi2-2, Spi2.2 |
| MMRRC Submission |
041125-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4388 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
104372988-104380588 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 104377616 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 290
(Q290K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021506
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021506]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021506
AA Change: Q290K
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000021506
Gene: ENSMUSG00000021091
AA Change: Q290K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
SERPIN
|
56 |
417 |
7.64e-194 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
86% (31/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
A |
13: 77,464,693 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
T |
C |
13: 81,729,828 (GRCm39) |
T218A |
probably damaging |
Het |
| Aldh1l2 |
T |
C |
10: 83,349,486 (GRCm39) |
D254G |
probably damaging |
Het |
| Arpc4 |
A |
G |
6: 113,362,458 (GRCm39) |
D36G |
probably damaging |
Het |
| Cd209b |
A |
G |
8: 3,975,960 (GRCm39) |
L67P |
probably damaging |
Het |
| Cldn20 |
G |
A |
17: 3,583,485 (GRCm39) |
M219I |
probably benign |
Het |
| Dmxl2 |
G |
A |
9: 54,303,551 (GRCm39) |
P2308S |
probably damaging |
Het |
| Fancd2 |
A |
G |
6: 113,533,329 (GRCm39) |
I549V |
probably damaging |
Het |
| Galnt2 |
T |
C |
8: 125,022,192 (GRCm39) |
|
probably null |
Het |
| Galnt9 |
A |
G |
5: 110,736,257 (GRCm39) |
D191G |
probably damaging |
Het |
| Hgf |
T |
A |
5: 16,819,941 (GRCm39) |
H557Q |
probably benign |
Het |
| Ifna12 |
T |
C |
4: 88,521,346 (GRCm39) |
D67G |
probably benign |
Het |
| Igf1r |
A |
G |
7: 67,819,757 (GRCm39) |
I356V |
probably benign |
Het |
| Itih1 |
A |
G |
14: 30,663,512 (GRCm39) |
V164A |
possibly damaging |
Het |
| Kcnc1 |
C |
A |
7: 46,047,126 (GRCm39) |
R9S |
possibly damaging |
Het |
| Kmt2b |
A |
C |
7: 30,288,015 (GRCm39) |
|
probably benign |
Het |
| Kmt2d |
C |
T |
15: 98,751,507 (GRCm39) |
|
probably benign |
Het |
| Kng1 |
T |
A |
16: 22,898,068 (GRCm39) |
H489Q |
possibly damaging |
Het |
| Larp7-ps |
A |
T |
4: 92,079,351 (GRCm39) |
S157T |
probably benign |
Het |
| Map4k5 |
C |
A |
12: 69,892,583 (GRCm39) |
M115I |
probably damaging |
Het |
| Muc4 |
T |
C |
16: 32,753,802 (GRCm38) |
I1226T |
probably benign |
Het |
| Naca |
T |
C |
10: 127,880,661 (GRCm39) |
S1898P |
probably damaging |
Het |
| Nlrp4e |
A |
G |
7: 23,000,902 (GRCm39) |
K66E |
probably benign |
Het |
| Nlrp4e |
A |
G |
7: 23,020,652 (GRCm39) |
I380V |
probably benign |
Het |
| Pex26 |
A |
G |
6: 121,161,351 (GRCm39) |
D43G |
probably damaging |
Het |
| Prr14l |
A |
G |
5: 32,986,598 (GRCm39) |
S966P |
probably damaging |
Het |
| Recql4 |
A |
G |
15: 76,590,158 (GRCm39) |
S659P |
probably benign |
Het |
| Sft2d1 |
A |
G |
17: 8,539,469 (GRCm39) |
K91E |
possibly damaging |
Het |
| Slc25a16 |
T |
C |
10: 62,764,105 (GRCm39) |
V54A |
probably benign |
Het |
| Svep1 |
A |
G |
4: 58,069,249 (GRCm39) |
Y2846H |
possibly damaging |
Het |
| Ttll2 |
T |
A |
17: 7,618,599 (GRCm39) |
R443* |
probably null |
Het |
| Uty |
A |
G |
Y: 1,151,956 (GRCm39) |
S795P |
possibly damaging |
Het |
| Xrcc5 |
T |
A |
1: 72,369,189 (GRCm39) |
S348T |
possibly damaging |
Het |
|
| Other mutations in Serpina3n |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00534:Serpina3n
|
APN |
12 |
104,378,604 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL01930:Serpina3n
|
APN |
12 |
104,375,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01989:Serpina3n
|
APN |
12 |
104,379,750 (GRCm39) |
missense |
probably benign |
|
|
IGL02419:Serpina3n
|
APN |
12 |
104,379,777 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0098:Serpina3n
|
UTSW |
12 |
104,379,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0098:Serpina3n
|
UTSW |
12 |
104,379,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0149:Serpina3n
|
UTSW |
12 |
104,377,635 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1872:Serpina3n
|
UTSW |
12 |
104,375,203 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1879:Serpina3n
|
UTSW |
12 |
104,375,213 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2018:Serpina3n
|
UTSW |
12 |
104,375,473 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2315:Serpina3n
|
UTSW |
12 |
104,378,627 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2968:Serpina3n
|
UTSW |
12 |
104,375,333 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2969:Serpina3n
|
UTSW |
12 |
104,375,333 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2970:Serpina3n
|
UTSW |
12 |
104,375,333 (GRCm39) |
missense |
probably benign |
0.12 |
|
R3409:Serpina3n
|
UTSW |
12 |
104,377,536 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3410:Serpina3n
|
UTSW |
12 |
104,377,536 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3411:Serpina3n
|
UTSW |
12 |
104,377,536 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4030:Serpina3n
|
UTSW |
12 |
104,377,660 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4659:Serpina3n
|
UTSW |
12 |
104,379,752 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4728:Serpina3n
|
UTSW |
12 |
104,375,422 (GRCm39) |
missense |
probably benign |
|
|
R4783:Serpina3n
|
UTSW |
12 |
104,375,369 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5001:Serpina3n
|
UTSW |
12 |
104,374,998 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5983:Serpina3n
|
UTSW |
12 |
104,375,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6767:Serpina3n
|
UTSW |
12 |
104,375,321 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7001:Serpina3n
|
UTSW |
12 |
104,375,184 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7468:Serpina3n
|
UTSW |
12 |
104,377,656 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9142:Serpina3n
|
UTSW |
12 |
104,379,710 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9180:Serpina3n
|
UTSW |
12 |
104,377,440 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9478:Serpina3n
|
UTSW |
12 |
104,378,672 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
X0027:Serpina3n
|
UTSW |
12 |
104,377,446 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0067:Serpina3n
|
UTSW |
12 |
104,377,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAATGGAAGGTGCCCTTTGAC -3'
(R):5'- TAAACTCCATCTGTCCCCTGGG -3'
Sequencing Primer
(F):5'- GACACGTTCAAGTCTGAGTTCTACG -3'
(R):5'- GGACGGTCCACTGTTACAG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation