Incidental Mutation 'IGL03126:Serpinb11'
| ID |
410148 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Serpinb11
|
| Ensembl Gene |
ENSMUSG00000026327 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 11 |
| Synonyms |
2310046M08Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03126
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
107290044-107308205 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 107307654 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 362
(F362L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027566
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027566]
|
| AlphaFold |
Q9CQV3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027566
AA Change: F362L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000027566
Gene: ENSMUSG00000026327
AA Change: F362L
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
388 |
4.33e-143 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
A |
G |
13: 119,617,563 (GRCm39) |
N562S |
probably benign |
Het |
| Abi1 |
A |
G |
2: 22,843,479 (GRCm39) |
V316A |
probably benign |
Het |
| Acsm1 |
A |
T |
7: 119,232,403 (GRCm39) |
Q100L |
possibly damaging |
Het |
| Akr1c21 |
T |
C |
13: 4,627,457 (GRCm39) |
Y184H |
possibly damaging |
Het |
| Anks3 |
T |
C |
16: 4,775,891 (GRCm39) |
T104A |
probably damaging |
Het |
| Bcl2l2 |
A |
G |
14: 55,122,224 (GRCm39) |
Y129C |
probably damaging |
Het |
| Cenpf |
T |
A |
1: 189,391,207 (GRCm39) |
K875I |
probably damaging |
Het |
| Cntnap1 |
T |
C |
11: 101,067,127 (GRCm39) |
V15A |
probably benign |
Het |
| Dnaaf9 |
A |
T |
2: 130,633,915 (GRCm39) |
|
probably null |
Het |
| Elmo3 |
C |
A |
8: 106,033,013 (GRCm39) |
R66S |
probably damaging |
Het |
| Elp1 |
A |
G |
4: 56,779,717 (GRCm39) |
S565P |
probably benign |
Het |
| Epn1 |
C |
A |
7: 5,098,684 (GRCm39) |
A370E |
probably benign |
Het |
| Esrrg |
T |
C |
1: 187,730,184 (GRCm39) |
|
probably benign |
Het |
| Fgd5 |
T |
G |
6: 92,042,145 (GRCm39) |
L1034R |
probably damaging |
Het |
| Fpgs |
A |
G |
2: 32,573,135 (GRCm39) |
V567A |
possibly damaging |
Het |
| Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
| H3c3 |
T |
C |
13: 23,929,425 (GRCm39) |
K19R |
possibly damaging |
Het |
| Hsd17b14 |
T |
C |
7: 45,205,503 (GRCm39) |
F38S |
possibly damaging |
Het |
| Larp1 |
T |
C |
11: 57,941,703 (GRCm39) |
V712A |
possibly damaging |
Het |
| Mep1b |
T |
C |
18: 21,221,617 (GRCm39) |
F189S |
probably damaging |
Het |
| Mill1 |
T |
C |
7: 17,989,832 (GRCm39) |
V38A |
probably benign |
Het |
| Niban2 |
C |
T |
2: 32,766,398 (GRCm39) |
R13W |
possibly damaging |
Het |
| Npy4r |
T |
C |
14: 33,868,290 (GRCm39) |
I333V |
probably benign |
Het |
| Numa1 |
G |
T |
7: 101,649,874 (GRCm39) |
E1202* |
probably null |
Het |
| Or3a1b |
C |
T |
11: 74,012,610 (GRCm39) |
A165V |
probably benign |
Het |
| Or6k6 |
A |
G |
1: 173,945,276 (GRCm39) |
I102T |
probably benign |
Het |
| Oxr1 |
A |
T |
15: 41,683,645 (GRCm39) |
Q356L |
possibly damaging |
Het |
| Prdx2 |
T |
C |
8: 85,698,198 (GRCm39) |
F130L |
probably damaging |
Het |
| Rasa1 |
A |
T |
13: 85,404,515 (GRCm39) |
S248R |
possibly damaging |
Het |
| Rgs19 |
A |
G |
2: 181,333,114 (GRCm39) |
S49P |
probably benign |
Het |
| Rinl |
A |
G |
7: 28,495,075 (GRCm39) |
|
probably benign |
Het |
| Slamf8 |
T |
C |
1: 172,411,736 (GRCm39) |
H253R |
possibly damaging |
Het |
| Tet3 |
C |
A |
6: 83,353,769 (GRCm39) |
R829L |
probably damaging |
Het |
| Trappc8 |
A |
G |
18: 20,996,652 (GRCm39) |
L420P |
probably damaging |
Het |
| Ube2u |
A |
T |
4: 100,407,199 (GRCm39) |
*353Y |
probably null |
Het |
| Wbp1l |
A |
C |
19: 46,632,838 (GRCm39) |
D46A |
probably damaging |
Het |
| Zbtb21 |
A |
G |
16: 97,752,945 (GRCm39) |
V474A |
probably damaging |
Het |
|
| Other mutations in Serpinb11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01487:Serpinb11
|
APN |
1 |
107,307,568 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01893:Serpinb11
|
APN |
1 |
107,305,388 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01893:Serpinb11
|
APN |
1 |
107,305,387 (GRCm39) |
missense |
probably benign |
|
|
IGL03011:Serpinb11
|
APN |
1 |
107,307,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0138:Serpinb11
|
UTSW |
1 |
107,305,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0153:Serpinb11
|
UTSW |
1 |
107,299,933 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0419:Serpinb11
|
UTSW |
1 |
107,304,590 (GRCm39) |
nonsense |
probably null |
|
|
R1550:Serpinb11
|
UTSW |
1 |
107,307,418 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1764:Serpinb11
|
UTSW |
1 |
107,304,532 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1972:Serpinb11
|
UTSW |
1 |
107,297,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3103:Serpinb11
|
UTSW |
1 |
107,305,338 (GRCm39) |
missense |
probably benign |
0.07 |
|
R3768:Serpinb11
|
UTSW |
1 |
107,305,392 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4332:Serpinb11
|
UTSW |
1 |
107,297,294 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5001:Serpinb11
|
UTSW |
1 |
107,304,598 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5010:Serpinb11
|
UTSW |
1 |
107,307,379 (GRCm39) |
missense |
probably benign |
|
|
R5043:Serpinb11
|
UTSW |
1 |
107,297,195 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5186:Serpinb11
|
UTSW |
1 |
107,307,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5833:Serpinb11
|
UTSW |
1 |
107,305,392 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5907:Serpinb11
|
UTSW |
1 |
107,299,919 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6244:Serpinb11
|
UTSW |
1 |
107,299,972 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6395:Serpinb11
|
UTSW |
1 |
107,299,781 (GRCm39) |
splice site |
probably null |
|
|
R7111:Serpinb11
|
UTSW |
1 |
107,304,614 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7354:Serpinb11
|
UTSW |
1 |
107,305,263 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7664:Serpinb11
|
UTSW |
1 |
107,307,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8075:Serpinb11
|
UTSW |
1 |
107,298,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8223:Serpinb11
|
UTSW |
1 |
107,305,262 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9091:Serpinb11
|
UTSW |
1 |
107,304,533 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9270:Serpinb11
|
UTSW |
1 |
107,304,533 (GRCm39) |
missense |
probably benign |
0.15 |
|
| Posted On |
2016-08-02 |
Incidental Mutation