Incidental Mutation 'R6172:Serpina3m'
ID |
488264 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Serpina3m
|
Ensembl Gene |
ENSMUSG00000079012 |
Gene Name |
serine (or cysteine) peptidase inhibitor, clade A, member 3M |
Synonyms |
Spi2.4, MMSPi2.4, Spi2-rs1, MMCM7, contrapsin-like, alpha-1 antiproteinase, Spi-2l, antitrypsin, Spi-2rs1, 3e46 |
MMRRC Submission |
044315-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.053)
|
Stock # |
R6172 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
104353424-104360518 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 104355486 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 51
(N51S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130979
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101078]
[ENSMUST00000168797]
|
AlphaFold |
Q03734 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000101078
AA Change: N51S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000098639 Gene: ENSMUSG00000079012 AA Change: N51S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
SERPIN
|
56 |
417 |
3.12e-199 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000168797
AA Change: N51S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000130979 Gene: ENSMUSG00000079012 AA Change: N51S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
SERPIN
|
56 |
417 |
3.12e-199 |
SMART |
|
Meta Mutation Damage Score |
0.5475 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.5%
|
Validation Efficiency |
100% (44/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap42 |
A |
T |
9: 9,148,246 (GRCm39) |
C108S |
possibly damaging |
Het |
Bbs2 |
T |
C |
8: 94,814,039 (GRCm39) |
E193G |
probably benign |
Het |
Bpifb2 |
C |
A |
2: 153,732,332 (GRCm39) |
H310Q |
probably benign |
Het |
Cand2 |
A |
G |
6: 115,768,271 (GRCm39) |
E472G |
probably benign |
Het |
Cd81 |
A |
G |
7: 142,606,691 (GRCm39) |
|
probably benign |
Het |
Chd5 |
A |
T |
4: 152,463,848 (GRCm39) |
H1476L |
probably damaging |
Het |
Clpx |
C |
A |
9: 65,209,161 (GRCm39) |
S92* |
probably null |
Het |
Cstf3 |
T |
C |
2: 104,481,987 (GRCm39) |
V276A |
probably damaging |
Het |
Ehd4 |
G |
A |
2: 119,932,737 (GRCm39) |
Q230* |
probably null |
Het |
Erich3 |
A |
G |
3: 154,469,978 (GRCm39) |
T4A |
possibly damaging |
Het |
Erlin2 |
T |
G |
8: 27,526,123 (GRCm39) |
|
probably null |
Het |
Exosc1 |
C |
A |
19: 41,912,442 (GRCm39) |
Q148H |
probably damaging |
Het |
Fbxw27 |
A |
T |
9: 109,601,337 (GRCm39) |
V261E |
probably damaging |
Het |
Flrt2 |
T |
A |
12: 95,746,305 (GRCm39) |
N214K |
probably damaging |
Het |
Foxp1 |
G |
A |
6: 98,992,471 (GRCm39) |
Q41* |
probably null |
Het |
Foxp1 |
C |
A |
6: 98,992,475 (GRCm39) |
|
probably null |
Het |
Frk |
T |
C |
10: 34,467,961 (GRCm39) |
L325P |
probably damaging |
Het |
Gm21698 |
T |
C |
5: 26,192,371 (GRCm39) |
I72V |
probably benign |
Het |
Gm39115 |
A |
T |
7: 141,689,651 (GRCm39) |
C41S |
unknown |
Het |
Hectd1 |
G |
A |
12: 51,816,065 (GRCm39) |
P1336S |
probably damaging |
Het |
Ighv7-1 |
T |
C |
12: 113,860,183 (GRCm39) |
S70G |
probably damaging |
Het |
Itga10 |
T |
C |
3: 96,554,753 (GRCm39) |
I78T |
probably benign |
Het |
Itgb4 |
A |
G |
11: 115,891,237 (GRCm39) |
H1218R |
probably benign |
Het |
Marchf6 |
A |
T |
15: 31,483,013 (GRCm39) |
N463K |
possibly damaging |
Het |
Muc5b |
A |
C |
7: 141,412,513 (GRCm39) |
T1820P |
unknown |
Het |
Nfatc4 |
A |
G |
14: 56,066,990 (GRCm39) |
T510A |
possibly damaging |
Het |
Nwd2 |
G |
T |
5: 63,964,249 (GRCm39) |
V1278F |
probably damaging |
Het |
Or52n2c |
A |
C |
7: 104,574,503 (GRCm39) |
M156R |
probably benign |
Het |
Or7g19 |
A |
G |
9: 18,856,042 (GRCm39) |
T33A |
probably benign |
Het |
P2rx1 |
G |
A |
11: 72,900,856 (GRCm39) |
V209M |
probably damaging |
Het |
Pkn1 |
T |
C |
8: 84,397,384 (GRCm39) |
K874R |
possibly damaging |
Het |
Plec |
C |
T |
15: 76,056,576 (GRCm39) |
V4444I |
probably damaging |
Het |
Ppp1r37 |
A |
T |
7: 19,266,329 (GRCm39) |
M479K |
possibly damaging |
Het |
Prr11 |
A |
C |
11: 86,994,449 (GRCm39) |
F66V |
probably benign |
Het |
Rbbp5 |
A |
G |
1: 132,424,554 (GRCm39) |
D268G |
possibly damaging |
Het |
Rbbp6 |
T |
A |
7: 122,597,778 (GRCm39) |
Y734* |
probably null |
Het |
Rc3h2 |
GCC |
GCCC |
2: 37,304,745 (GRCm39) |
|
probably null |
Het |
Rhou |
A |
G |
8: 124,387,903 (GRCm39) |
K212E |
probably benign |
Het |
Rsph1 |
G |
A |
17: 31,492,392 (GRCm39) |
T58I |
probably benign |
Het |
Shisa6 |
A |
T |
11: 66,108,832 (GRCm39) |
D348E |
probably benign |
Het |
Slc6a5 |
T |
A |
7: 49,598,081 (GRCm39) |
Y648* |
probably null |
Het |
Stag3 |
A |
G |
5: 138,298,105 (GRCm39) |
D699G |
probably benign |
Het |
Terf2ip |
A |
T |
8: 112,744,649 (GRCm39) |
D322V |
probably damaging |
Het |
Vmn1r125 |
A |
T |
7: 21,006,275 (GRCm39) |
M58L |
probably benign |
Het |
Wdr49 |
T |
A |
3: 75,205,487 (GRCm39) |
D643V |
probably damaging |
Het |
|
Other mutations in Serpina3m |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
FR4976:Serpina3m
|
UTSW |
12 |
104,324,882 (GRCm39) |
splice site |
probably null |
|
R1797:Serpina3m
|
UTSW |
12 |
104,355,774 (GRCm39) |
missense |
probably damaging |
1.00 |
R1929:Serpina3m
|
UTSW |
12 |
104,355,581 (GRCm39) |
missense |
probably damaging |
0.97 |
R1991:Serpina3m
|
UTSW |
12 |
104,355,958 (GRCm39) |
nonsense |
probably null |
|
R2032:Serpina3m
|
UTSW |
12 |
104,355,928 (GRCm39) |
missense |
probably benign |
0.00 |
R2094:Serpina3m
|
UTSW |
12 |
104,355,529 (GRCm39) |
missense |
probably benign |
0.35 |
R2103:Serpina3m
|
UTSW |
12 |
104,355,958 (GRCm39) |
nonsense |
probably null |
|
R2121:Serpina3m
|
UTSW |
12 |
104,355,941 (GRCm39) |
missense |
possibly damaging |
0.59 |
R2147:Serpina3m
|
UTSW |
12 |
104,355,483 (GRCm39) |
missense |
probably benign |
0.01 |
R2241:Serpina3m
|
UTSW |
12 |
104,355,708 (GRCm39) |
missense |
probably benign |
0.01 |
R2330:Serpina3m
|
UTSW |
12 |
104,357,963 (GRCm39) |
missense |
possibly damaging |
0.61 |
R4057:Serpina3m
|
UTSW |
12 |
104,357,996 (GRCm39) |
splice site |
probably benign |
|
R4275:Serpina3m
|
UTSW |
12 |
104,355,375 (GRCm39) |
missense |
probably damaging |
0.99 |
R4466:Serpina3m
|
UTSW |
12 |
104,357,874 (GRCm39) |
missense |
probably damaging |
1.00 |
R4901:Serpina3m
|
UTSW |
12 |
104,355,908 (GRCm39) |
nonsense |
probably null |
|
R4924:Serpina3m
|
UTSW |
12 |
104,357,729 (GRCm39) |
missense |
probably benign |
0.00 |
R4964:Serpina3m
|
UTSW |
12 |
104,355,360 (GRCm39) |
missense |
probably benign |
0.43 |
R5723:Serpina3m
|
UTSW |
12 |
104,360,170 (GRCm39) |
missense |
probably damaging |
0.96 |
R5836:Serpina3m
|
UTSW |
12 |
104,355,509 (GRCm39) |
missense |
probably damaging |
1.00 |
R6619:Serpina3m
|
UTSW |
12 |
104,357,766 (GRCm39) |
missense |
probably benign |
0.02 |
R6857:Serpina3m
|
UTSW |
12 |
104,355,585 (GRCm39) |
missense |
probably damaging |
1.00 |
R6886:Serpina3m
|
UTSW |
12 |
104,355,386 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7063:Serpina3m
|
UTSW |
12 |
104,357,726 (GRCm39) |
missense |
probably benign |
0.00 |
R7170:Serpina3m
|
UTSW |
12 |
104,355,777 (GRCm39) |
missense |
probably damaging |
1.00 |
R7622:Serpina3m
|
UTSW |
12 |
104,355,834 (GRCm39) |
missense |
possibly damaging |
0.82 |
R8222:Serpina3m
|
UTSW |
12 |
104,358,960 (GRCm39) |
missense |
possibly damaging |
0.78 |
R8771:Serpina3m
|
UTSW |
12 |
104,357,841 (GRCm39) |
missense |
probably damaging |
0.98 |
R8853:Serpina3m
|
UTSW |
12 |
104,355,914 (GRCm39) |
missense |
probably benign |
|
R8913:Serpina3m
|
UTSW |
12 |
104,355,477 (GRCm39) |
missense |
probably benign |
0.32 |
R9641:Serpina3m
|
UTSW |
12 |
104,360,085 (GRCm39) |
nonsense |
probably null |
|
R9709:Serpina3m
|
UTSW |
12 |
104,359,008 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Serpina3m
|
UTSW |
12 |
104,355,711 (GRCm39) |
missense |
probably benign |
0.03 |
|
Predicted Primers |
PCR Primer
(F):5'- GAAATGGTCAGAGCACCAGC -3'
(R):5'- GGATGTCTGCTTCAGAGGTC -3'
Sequencing Primer
(F):5'- TGGTCCTCCAAGACTCAAAGGATG -3'
(R):5'- CTCTGTGAGATTGAACTTGAGACC -3'
|
Posted On |
2017-10-10 |