Incidental Mutation 'R5922:Serpina3i'
ID |
461645 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Serpina3i
|
Ensembl Gene |
ENSMUSG00000079014 |
Gene Name |
serine (or cysteine) peptidase inhibitor, clade A, member 3I |
Synonyms |
alpha-1 antiproteinase, antitrypsin, 2B2, Gm6930 |
MMRRC Submission |
043240-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
R5922 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
104229381-104235631 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 104232766 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 224
(K224E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105584
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109958]
|
AlphaFold |
D3Z450 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000109958
AA Change: K224E
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000105584 Gene: ENSMUSG00000079014 AA Change: K224E
Domain | Start | End | E-Value | Type |
SERPIN
|
46 |
407 |
8.45e-187 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000109960
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actl7a |
G |
T |
4: 56,743,827 (GRCm39) |
R118L |
probably damaging |
Het |
Atr |
A |
G |
9: 95,785,735 (GRCm39) |
D1429G |
probably benign |
Het |
Brinp2 |
A |
T |
1: 158,076,925 (GRCm39) |
V390D |
possibly damaging |
Het |
Cpn1 |
T |
C |
19: 43,974,532 (GRCm39) |
S66G |
probably damaging |
Het |
Dnal1 |
C |
A |
12: 84,173,746 (GRCm39) |
L55M |
probably damaging |
Het |
Dus2 |
G |
A |
8: 106,780,037 (GRCm39) |
R453Q |
possibly damaging |
Het |
Efcab5 |
T |
C |
11: 77,079,570 (GRCm39) |
T59A |
probably benign |
Het |
Elmo1 |
A |
G |
13: 20,789,339 (GRCm39) |
D685G |
probably damaging |
Het |
Ern1 |
T |
C |
11: 106,312,556 (GRCm39) |
E275G |
probably damaging |
Het |
Etnk2 |
A |
G |
1: 133,291,623 (GRCm39) |
|
probably null |
Het |
Fign |
T |
C |
2: 63,809,404 (GRCm39) |
D622G |
probably damaging |
Het |
Gjb2 |
A |
G |
14: 57,337,755 (GRCm39) |
M151T |
probably benign |
Het |
Heatr9 |
C |
T |
11: 83,403,193 (GRCm39) |
|
probably null |
Het |
Herpud2 |
G |
A |
9: 25,020,280 (GRCm39) |
L359F |
probably benign |
Het |
Hpx |
C |
T |
7: 105,244,831 (GRCm39) |
R118H |
probably damaging |
Het |
Hyal2 |
A |
G |
9: 107,448,106 (GRCm39) |
Y253C |
probably damaging |
Het |
Igkv14-130 |
T |
C |
6: 67,768,206 (GRCm39) |
C22R |
probably damaging |
Het |
Ms4a6b |
T |
A |
19: 11,497,743 (GRCm39) |
I14N |
possibly damaging |
Het |
Myb |
T |
A |
10: 21,028,826 (GRCm39) |
I91F |
probably damaging |
Het |
Myh6 |
C |
T |
14: 55,183,931 (GRCm39) |
D1668N |
probably damaging |
Het |
Noc2l |
C |
T |
4: 156,325,770 (GRCm39) |
Q182* |
probably null |
Het |
Nsd1 |
A |
G |
13: 55,395,288 (GRCm39) |
N1066S |
probably benign |
Het |
Nup98 |
A |
G |
7: 101,803,224 (GRCm39) |
Y659H |
probably damaging |
Het |
Nutm1 |
T |
C |
2: 112,079,659 (GRCm39) |
E752G |
possibly damaging |
Het |
Paqr6 |
G |
T |
3: 88,273,544 (GRCm39) |
A154S |
probably benign |
Het |
Pdlim7 |
G |
T |
13: 55,656,768 (GRCm39) |
T62K |
probably damaging |
Het |
Pibf1 |
A |
G |
14: 99,374,524 (GRCm39) |
D321G |
probably benign |
Het |
Plrg1 |
T |
A |
3: 82,964,155 (GRCm39) |
N29K |
possibly damaging |
Het |
Scimp |
A |
C |
11: 70,691,642 (GRCm39) |
|
probably null |
Het |
Sec16a |
T |
C |
2: 26,305,651 (GRCm39) |
N2251S |
probably benign |
Het |
Sec61a2 |
A |
T |
2: 5,879,134 (GRCm39) |
D291E |
possibly damaging |
Het |
Spz1 |
A |
T |
13: 92,712,106 (GRCm39) |
D123E |
possibly damaging |
Het |
St14 |
A |
T |
9: 31,041,200 (GRCm39) |
|
probably benign |
Het |
Ush1c |
A |
T |
7: 45,853,552 (GRCm39) |
|
probably null |
Het |
Usp54 |
T |
C |
14: 20,602,139 (GRCm39) |
|
probably null |
Het |
Zfhx3 |
C |
T |
8: 109,673,330 (GRCm39) |
T1460M |
probably damaging |
Het |
Zfp712 |
G |
T |
13: 67,189,668 (GRCm39) |
N286K |
probably benign |
Het |
|
Other mutations in Serpina3i |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00658:Serpina3i
|
APN |
12 |
104,231,429 (GRCm39) |
missense |
possibly damaging |
0.47 |
IGL01311:Serpina3i
|
APN |
12 |
104,233,946 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02661:Serpina3i
|
APN |
12 |
104,231,515 (GRCm39) |
nonsense |
probably null |
|
IGL02819:Serpina3i
|
APN |
12 |
104,234,761 (GRCm39) |
missense |
probably damaging |
1.00 |
FR4340:Serpina3i
|
UTSW |
12 |
104,231,423 (GRCm39) |
small insertion |
probably benign |
|
PIT4431001:Serpina3i
|
UTSW |
12 |
104,231,432 (GRCm39) |
missense |
probably benign |
0.03 |
R0091:Serpina3i
|
UTSW |
12 |
104,231,423 (GRCm39) |
missense |
probably damaging |
0.97 |
R0678:Serpina3i
|
UTSW |
12 |
104,232,978 (GRCm39) |
critical splice donor site |
probably null |
|
R1624:Serpina3i
|
UTSW |
12 |
104,234,897 (GRCm39) |
makesense |
probably null |
|
R4604:Serpina3i
|
UTSW |
12 |
104,234,036 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4814:Serpina3i
|
UTSW |
12 |
104,231,470 (GRCm39) |
missense |
probably benign |
0.00 |
R5213:Serpina3i
|
UTSW |
12 |
104,231,914 (GRCm39) |
missense |
probably benign |
|
R5464:Serpina3i
|
UTSW |
12 |
104,234,751 (GRCm39) |
missense |
possibly damaging |
0.62 |
R5504:Serpina3i
|
UTSW |
12 |
104,232,862 (GRCm39) |
missense |
probably damaging |
1.00 |
R5723:Serpina3i
|
UTSW |
12 |
104,231,759 (GRCm39) |
missense |
probably benign |
0.09 |
R5828:Serpina3i
|
UTSW |
12 |
104,231,474 (GRCm39) |
missense |
probably benign |
0.35 |
R6194:Serpina3i
|
UTSW |
12 |
104,232,762 (GRCm39) |
missense |
probably benign |
0.21 |
R6235:Serpina3i
|
UTSW |
12 |
104,232,791 (GRCm39) |
missense |
probably damaging |
1.00 |
R6469:Serpina3i
|
UTSW |
12 |
104,232,776 (GRCm39) |
missense |
probably damaging |
1.00 |
R6631:Serpina3i
|
UTSW |
12 |
104,232,725 (GRCm39) |
missense |
probably damaging |
0.99 |
R7993:Serpina3i
|
UTSW |
12 |
104,231,407 (GRCm39) |
missense |
possibly damaging |
0.80 |
R8437:Serpina3i
|
UTSW |
12 |
104,231,963 (GRCm39) |
missense |
probably damaging |
1.00 |
R8680:Serpina3i
|
UTSW |
12 |
104,231,387 (GRCm39) |
missense |
possibly damaging |
0.61 |
R9157:Serpina3i
|
UTSW |
12 |
104,231,672 (GRCm39) |
missense |
probably damaging |
1.00 |
R9249:Serpina3i
|
UTSW |
12 |
104,231,728 (GRCm39) |
nonsense |
probably null |
|
R9303:Serpina3i
|
UTSW |
12 |
104,234,881 (GRCm39) |
missense |
probably damaging |
0.98 |
R9305:Serpina3i
|
UTSW |
12 |
104,234,881 (GRCm39) |
missense |
probably damaging |
0.98 |
R9313:Serpina3i
|
UTSW |
12 |
104,231,672 (GRCm39) |
missense |
probably damaging |
1.00 |
R9424:Serpina3i
|
UTSW |
12 |
104,234,730 (GRCm39) |
missense |
probably benign |
|
R9572:Serpina3i
|
UTSW |
12 |
104,234,743 (GRCm39) |
missense |
probably damaging |
1.00 |
R9576:Serpina3i
|
UTSW |
12 |
104,234,730 (GRCm39) |
missense |
probably benign |
|
Z1176:Serpina3i
|
UTSW |
12 |
104,233,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TAAGGGACACTGTGCTGTTG -3'
(R):5'- GCACCTGGGTTTCAGAGAGTTC -3'
Sequencing Primer
(F):5'- GCTGTTGAAGGTATATTGACAGC -3'
(R):5'- CTCAGGGTCTCTGGATGCAAG -3'
|
Posted On |
2017-02-28 |