Incidental Mutation 'IGL00543:Serpinb3b'
| ID |
7392 |
| 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: 0.054)
|
| Stock # |
IGL00543
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
107081691-107088844 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 107085396 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 null
Transcript: ENSMUST00000086694
|
| SMART Domains |
Protein: ENSMUSP00000083901
Gene: ENSMUSG00000073602
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
387 |
4.75e-181 |
SMART |
|
| Predicted Effect |
probably null
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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1c |
A |
G |
2: 58,205,835 (GRCm39) |
C42R |
probably damaging |
Het |
| Adamts1 |
T |
C |
16: 85,592,461 (GRCm39) |
H649R |
probably benign |
Het |
| Capn3 |
T |
C |
2: 120,316,963 (GRCm39) |
|
probably benign |
Het |
| Cd44 |
T |
C |
2: 102,686,292 (GRCm39) |
T135A |
possibly damaging |
Het |
| Cntnap5c |
T |
A |
17: 58,601,345 (GRCm39) |
I831N |
probably benign |
Het |
| Eprs1 |
G |
T |
1: 185,139,345 (GRCm39) |
C910F |
probably benign |
Het |
| Epx |
T |
C |
11: 87,760,751 (GRCm39) |
R394G |
probably damaging |
Het |
| Hps5 |
T |
C |
7: 46,427,497 (GRCm39) |
D338G |
probably benign |
Het |
| Ikbkg |
T |
C |
X: 73,476,466 (GRCm39) |
V14A |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 41,358,960 (GRCm39) |
F638L |
possibly damaging |
Het |
| Lyz3 |
G |
T |
10: 117,074,352 (GRCm39) |
T45K |
probably benign |
Het |
| Mak |
A |
T |
13: 41,209,189 (GRCm39) |
Y87N |
probably damaging |
Het |
| Morc2a |
T |
A |
11: 3,630,283 (GRCm39) |
I493N |
probably damaging |
Het |
| Msl2 |
T |
A |
9: 100,978,269 (GRCm39) |
H214Q |
probably benign |
Het |
| Myom3 |
A |
C |
4: 135,489,882 (GRCm39) |
T18P |
possibly damaging |
Het |
| Ndst3 |
G |
T |
3: 123,465,912 (GRCm39) |
T20N |
probably damaging |
Het |
| Nelfe |
T |
A |
17: 35,072,592 (GRCm39) |
S124T |
possibly damaging |
Het |
| Niban2 |
T |
A |
2: 32,802,483 (GRCm39) |
F158Y |
probably benign |
Het |
| Nlgn1 |
T |
G |
3: 25,487,945 (GRCm39) |
T797P |
probably damaging |
Het |
| Pcdh18 |
T |
C |
3: 49,707,828 (GRCm39) |
D414G |
probably damaging |
Het |
| Pde4dip |
T |
C |
3: 97,664,940 (GRCm39) |
S386G |
possibly damaging |
Het |
| Ppig |
T |
A |
2: 69,580,060 (GRCm39) |
H531Q |
unknown |
Het |
| Ppm1n |
T |
C |
7: 19,012,109 (GRCm39) |
Y348C |
probably benign |
Het |
| Rdh9 |
T |
C |
10: 127,626,853 (GRCm39) |
V302A |
probably benign |
Het |
| Slc39a10 |
A |
G |
1: 46,858,217 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
IGL01300:Serpinb3b
|
APN |
1 |
107,083,573 (GRCm39) |
critical splice donor site |
probably benign |
|
|
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 |
2012-04-20 |
Incidental Mutation