Incidental Mutation 'R5827:Serpina3b'
| ID |
450224 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Serpina3b
|
| Ensembl Gene |
ENSMUSG00000066364 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade A, member 3B |
| Synonyms |
alpha-1 antiproteinase, 6A1, antitrypsin, A030003A19Rik |
| MMRRC Submission |
043218-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R5827 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
104094255-104105804 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 104097036 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 106
(T106A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082127
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085052]
|
| AlphaFold |
Q8BYY9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085052
AA Change: T106A
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000082127
Gene: ENSMUSG00000066364
AA Change: T106A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
SERPIN
|
56 |
417 |
1.1e-153 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
C |
A |
11: 109,868,639 (GRCm39) |
G175V |
probably damaging |
Het |
| Agl |
T |
C |
3: 116,574,703 (GRCm39) |
I34V |
probably damaging |
Het |
| Cavin4 |
A |
T |
4: 48,672,074 (GRCm39) |
D173V |
probably damaging |
Het |
| Chd9 |
A |
G |
8: 91,716,078 (GRCm39) |
D884G |
probably damaging |
Het |
| Col6a5 |
G |
A |
9: 105,805,319 (GRCm39) |
R1196* |
probably null |
Het |
| Disc1 |
T |
C |
8: 125,862,104 (GRCm39) |
L492P |
probably damaging |
Het |
| Dscam |
A |
G |
16: 96,451,191 (GRCm39) |
|
probably null |
Het |
| Fbxw4 |
T |
C |
19: 45,568,096 (GRCm39) |
T26A |
probably benign |
Het |
| H1f6 |
A |
G |
13: 23,880,185 (GRCm39) |
K113E |
possibly damaging |
Het |
| Klhl24 |
T |
A |
16: 19,938,871 (GRCm39) |
Y475* |
probably null |
Het |
| Map4k3 |
C |
T |
17: 80,900,712 (GRCm39) |
|
probably null |
Het |
| Mfsd6 |
T |
C |
1: 52,701,551 (GRCm39) |
E633G |
probably damaging |
Het |
| Mycn |
G |
A |
12: 12,989,794 (GRCm39) |
R201* |
probably null |
Het |
| Nek11 |
T |
C |
9: 105,191,944 (GRCm39) |
I155M |
probably damaging |
Het |
| Notch2 |
G |
A |
3: 97,980,178 (GRCm39) |
V231I |
possibly damaging |
Het |
| Npnt |
A |
C |
3: 132,612,536 (GRCm39) |
V187G |
possibly damaging |
Het |
| Nr1d2 |
C |
A |
14: 18,222,248 (GRCm38) |
V8L |
possibly damaging |
Het |
| Nup188 |
C |
T |
2: 30,229,859 (GRCm39) |
T1359I |
probably damaging |
Het |
| Or2m12 |
T |
A |
16: 19,105,182 (GRCm39) |
I104L |
probably benign |
Het |
| Or4k35 |
A |
T |
2: 111,100,266 (GRCm39) |
W149R |
probably damaging |
Het |
| Or5m11b |
C |
A |
2: 85,805,650 (GRCm39) |
P21Q |
probably benign |
Het |
| Or8g36 |
T |
A |
9: 39,422,354 (GRCm39) |
I221F |
probably damaging |
Het |
| P2rx2 |
C |
T |
5: 110,488,195 (GRCm39) |
R453Q |
probably benign |
Het |
| Pcdhb7 |
A |
G |
18: 37,475,077 (GRCm39) |
E71G |
probably benign |
Het |
| Pcdhb9 |
A |
T |
18: 37,535,011 (GRCm39) |
D335V |
possibly damaging |
Het |
| Pcsk9 |
C |
T |
4: 106,306,144 (GRCm39) |
G368R |
probably damaging |
Het |
| Ptgr2 |
G |
A |
12: 84,342,110 (GRCm39) |
|
probably null |
Het |
| Rhebl1 |
T |
A |
15: 98,776,151 (GRCm39) |
I168F |
probably damaging |
Het |
| Sh3pxd2b |
A |
G |
11: 32,372,422 (GRCm39) |
I530V |
probably benign |
Het |
| Skint10 |
T |
C |
4: 112,603,972 (GRCm39) |
T72A |
probably benign |
Het |
| Slx4 |
G |
T |
16: 3,819,148 (GRCm39) |
F8L |
possibly damaging |
Het |
| Tdp2 |
T |
C |
13: 25,015,836 (GRCm39) |
L41P |
probably damaging |
Het |
| Tiam2 |
A |
G |
17: 3,498,764 (GRCm39) |
I847V |
probably benign |
Het |
| Tmem200c |
A |
G |
17: 69,149,004 (GRCm39) |
E529G |
probably benign |
Het |
| Tnpo1 |
T |
C |
13: 98,993,416 (GRCm39) |
D590G |
probably damaging |
Het |
| Ube3d |
T |
C |
9: 86,254,489 (GRCm39) |
T331A |
possibly damaging |
Het |
| Ugt1a2 |
T |
A |
1: 88,128,787 (GRCm39) |
S143R |
probably damaging |
Het |
| Zfp58 |
A |
T |
13: 67,639,412 (GRCm39) |
C360S |
probably damaging |
Het |
|
| Other mutations in Serpina3b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00164:Serpina3b
|
APN |
12 |
104,105,046 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL00427:Serpina3b
|
APN |
12 |
104,099,200 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01637:Serpina3b
|
APN |
12 |
104,099,216 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01738:Serpina3b
|
APN |
12 |
104,097,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02403:Serpina3b
|
APN |
12 |
104,096,721 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
IGL03118:Serpina3b
|
APN |
12 |
104,097,313 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0141:Serpina3b
|
UTSW |
12 |
104,097,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0217:Serpina3b
|
UTSW |
12 |
104,096,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0437:Serpina3b
|
UTSW |
12 |
104,096,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1295:Serpina3b
|
UTSW |
12 |
104,097,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1463:Serpina3b
|
UTSW |
12 |
104,104,969 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1802:Serpina3b
|
UTSW |
12 |
104,104,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2104:Serpina3b
|
UTSW |
12 |
104,105,069 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3871:Serpina3b
|
UTSW |
12 |
104,105,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4720:Serpina3b
|
UTSW |
12 |
104,096,889 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5970:Serpina3b
|
UTSW |
12 |
104,100,350 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6014:Serpina3b
|
UTSW |
12 |
104,097,356 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6102:Serpina3b
|
UTSW |
12 |
104,100,428 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6673:Serpina3b
|
UTSW |
12 |
104,096,928 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6807:Serpina3b
|
UTSW |
12 |
104,099,251 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6836:Serpina3b
|
UTSW |
12 |
104,100,341 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6893:Serpina3b
|
UTSW |
12 |
104,099,285 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7414:Serpina3b
|
UTSW |
12 |
104,099,145 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7539:Serpina3b
|
UTSW |
12 |
104,096,970 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7748:Serpina3b
|
UTSW |
12 |
104,096,722 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R7817:Serpina3b
|
UTSW |
12 |
104,099,223 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8040:Serpina3b
|
UTSW |
12 |
104,097,335 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8143:Serpina3b
|
UTSW |
12 |
104,096,793 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8360:Serpina3b
|
UTSW |
12 |
104,104,962 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAATGCAGTCCAGAAAGGCC -3'
(R):5'- AGACCTCAGTGTGGTACAGAG -3'
Sequencing Primer
(F):5'- AGTTTAACACTGGCTTCCATCAAC -3'
(R):5'- CTCAGTGTGGTACAGAGCCCTTG -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation