Incidental Mutation 'IGL01300:Serpinb3b'
| ID |
75245 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Serpinb3b
|
| Ensembl Gene |
ENSMUSG00000073602 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 3B |
| Synonyms |
Scca2-rs |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
IGL01300
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
107081691-107088844 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site |
| DNA Base Change (assembly) |
A to G
at 107083573 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132370
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086694]
[ENSMUST00000166100]
|
| AlphaFold |
Q9D1Q5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086694
|
| SMART Domains |
Protein: ENSMUSP00000083901
Gene: ENSMUSG00000073602
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
387 |
4.75e-181 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166100
|
| SMART Domains |
Protein: ENSMUSP00000132370
Gene: ENSMUSG00000073602
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
387 |
4.75e-181 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anxa8 |
A |
G |
14: 33,821,700 (GRCm39) |
D300G |
probably benign |
Het |
| Cacna1g |
T |
C |
11: 94,324,738 (GRCm39) |
H1161R |
probably benign |
Het |
| Col14a1 |
G |
A |
15: 55,331,372 (GRCm39) |
R1471Q |
unknown |
Het |
| Gm14496 |
A |
T |
2: 181,642,753 (GRCm39) |
E808V |
probably damaging |
Het |
| Gm1968 |
T |
C |
16: 29,781,038 (GRCm39) |
|
noncoding transcript |
Het |
| Gzmb |
G |
A |
14: 56,497,653 (GRCm39) |
R196C |
probably benign |
Het |
| Hkdc1 |
A |
G |
10: 62,231,040 (GRCm39) |
|
probably benign |
Het |
| Itgal |
T |
A |
7: 126,913,290 (GRCm39) |
V629E |
probably damaging |
Het |
| Jak2 |
T |
A |
19: 29,287,083 (GRCm39) |
Y1050N |
probably damaging |
Het |
| Lrrc69 |
C |
T |
4: 14,773,663 (GRCm39) |
|
probably benign |
Het |
| Mmd |
T |
C |
11: 90,140,537 (GRCm39) |
M1T |
probably null |
Het |
| Myh6 |
A |
G |
14: 55,200,548 (GRCm39) |
V191A |
possibly damaging |
Het |
| Mynn |
A |
G |
3: 30,667,755 (GRCm39) |
N485S |
probably damaging |
Het |
| Naa30 |
C |
T |
14: 49,410,714 (GRCm39) |
T214M |
probably damaging |
Het |
| Ncoa3 |
A |
T |
2: 165,910,381 (GRCm39) |
T1265S |
probably benign |
Het |
| Or10al2 |
C |
A |
17: 37,983,778 (GRCm39) |
T288K |
probably damaging |
Het |
| Or1j10 |
T |
C |
2: 36,267,054 (GRCm39) |
S89P |
probably benign |
Het |
| Prex1 |
A |
G |
2: 166,480,327 (GRCm39) |
C138R |
possibly damaging |
Het |
| Prom2 |
A |
T |
2: 127,377,009 (GRCm39) |
L535H |
probably benign |
Het |
| Pros1 |
T |
C |
16: 62,734,174 (GRCm39) |
F327L |
possibly damaging |
Het |
| Ros1 |
A |
G |
10: 51,977,809 (GRCm39) |
M1479T |
probably benign |
Het |
| Scn9a |
G |
A |
2: 66,318,397 (GRCm39) |
Q1465* |
probably null |
Het |
| Sipa1l3 |
G |
A |
7: 29,099,253 (GRCm39) |
Q339* |
probably null |
Het |
| Slc34a2 |
A |
C |
5: 53,225,469 (GRCm39) |
|
probably null |
Het |
| Smc3 |
T |
A |
19: 53,630,283 (GRCm39) |
|
probably benign |
Het |
| Tmem30a |
A |
G |
9: 79,682,382 (GRCm39) |
|
probably null |
Het |
| Trappc11 |
A |
T |
8: 47,954,903 (GRCm39) |
D878E |
probably benign |
Het |
| Trrap |
C |
T |
5: 144,741,628 (GRCm39) |
T1325M |
probably damaging |
Het |
| Ttc12 |
A |
T |
9: 49,359,222 (GRCm39) |
|
probably benign |
Het |
| Vmn1r237 |
T |
A |
17: 21,534,337 (GRCm39) |
I20N |
probably damaging |
Het |
| Vmn2r115 |
T |
A |
17: 23,578,755 (GRCm39) |
S743T |
probably damaging |
Het |
| Vmn2r74 |
A |
G |
7: 85,606,414 (GRCm39) |
Y311H |
probably benign |
Het |
| Vnn3 |
T |
A |
10: 23,740,263 (GRCm39) |
F189I |
possibly damaging |
Het |
|
| Other mutations in Serpinb3b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00504:Serpinb3b
|
APN |
1 |
107,085,411 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL00543:Serpinb3b
|
APN |
1 |
107,085,396 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00846:Serpinb3b
|
APN |
1 |
107,083,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00851:Serpinb3b
|
APN |
1 |
107,087,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01017:Serpinb3b
|
APN |
1 |
107,082,187 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL01083:Serpinb3b
|
APN |
1 |
107,085,473 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
IGL01306:Serpinb3b
|
APN |
1 |
107,082,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01604:Serpinb3b
|
APN |
1 |
107,082,454 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01936:Serpinb3b
|
APN |
1 |
107,082,368 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02125:Serpinb3b
|
APN |
1 |
107,082,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03185:Serpinb3b
|
APN |
1 |
107,084,662 (GRCm39) |
missense |
probably benign |
0.01 |
|
ANU23:Serpinb3b
|
UTSW |
1 |
107,082,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0329:Serpinb3b
|
UTSW |
1 |
107,087,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0330:Serpinb3b
|
UTSW |
1 |
107,087,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1465:Serpinb3b
|
UTSW |
1 |
107,083,573 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1465:Serpinb3b
|
UTSW |
1 |
107,083,573 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1635:Serpinb3b
|
UTSW |
1 |
107,082,403 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1713:Serpinb3b
|
UTSW |
1 |
107,083,164 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1898:Serpinb3b
|
UTSW |
1 |
107,082,317 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2252:Serpinb3b
|
UTSW |
1 |
107,083,208 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R3430:Serpinb3b
|
UTSW |
1 |
107,082,425 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4382:Serpinb3b
|
UTSW |
1 |
107,083,273 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4741:Serpinb3b
|
UTSW |
1 |
107,082,200 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4855:Serpinb3b
|
UTSW |
1 |
107,082,270 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R4974:Serpinb3b
|
UTSW |
1 |
107,082,445 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4982:Serpinb3b
|
UTSW |
1 |
107,085,484 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5519:Serpinb3b
|
UTSW |
1 |
107,087,506 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R6846:Serpinb3b
|
UTSW |
1 |
107,082,403 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7815:Serpinb3b
|
UTSW |
1 |
107,084,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7860:Serpinb3b
|
UTSW |
1 |
107,085,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9720:Serpinb3b
|
UTSW |
1 |
107,083,669 (GRCm39) |
missense |
probably benign |
|
|
R9746:Serpinb3b
|
UTSW |
1 |
107,082,403 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9773:Serpinb3b
|
UTSW |
1 |
107,085,416 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
Z1088:Serpinb3b
|
UTSW |
1 |
107,085,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-10-07 |
Incidental Mutation