Incidental Mutation 'R6846:Serpinb3b'
| ID |
534747 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Serpinb3b
|
| Ensembl Gene |
ENSMUSG00000073602 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 3B |
| Synonyms |
Scca2-rs |
| MMRRC Submission |
044952-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R6846 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
107081691-107088844 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 107082403 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 287
(E287G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132370
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086694]
[ENSMUST00000166100]
|
| AlphaFold |
Q9D1Q5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086694
AA Change: E287G
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000083901
Gene: ENSMUSG00000073602
AA Change: E287G
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
387 |
4.75e-181 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166100
AA Change: E287G
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000132370
Gene: ENSMUSG00000073602
AA Change: E287G
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
387 |
4.75e-181 |
SMART |
|
| Meta Mutation Damage Score |
0.4949 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
100% (42/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
A |
G |
19: 8,989,221 (GRCm39) |
N3502D |
possibly damaging |
Het |
| Ambn |
T |
A |
5: 88,609,574 (GRCm39) |
I94K |
possibly damaging |
Het |
| Ank3 |
A |
G |
10: 69,660,179 (GRCm39) |
H227R |
probably damaging |
Het |
| Arhgap42 |
G |
T |
9: 9,006,446 (GRCm39) |
P650Q |
probably damaging |
Het |
| Bahcc1 |
A |
G |
11: 120,162,422 (GRCm39) |
E240G |
possibly damaging |
Het |
| Cd19 |
T |
C |
7: 126,010,025 (GRCm39) |
E408G |
probably benign |
Het |
| Cdh11 |
G |
A |
8: 103,391,276 (GRCm39) |
T320I |
probably damaging |
Het |
| Cep131 |
G |
A |
11: 119,956,517 (GRCm39) |
R944W |
probably damaging |
Het |
| Dgkd |
T |
G |
1: 87,853,413 (GRCm39) |
|
probably null |
Het |
| Dnaaf1 |
T |
A |
8: 120,309,401 (GRCm39) |
L163Q |
probably damaging |
Het |
| Ecpas |
A |
G |
4: 58,814,081 (GRCm39) |
C1342R |
possibly damaging |
Het |
| Etl4 |
T |
A |
2: 20,748,919 (GRCm39) |
L550Q |
possibly damaging |
Het |
| Evpl |
T |
C |
11: 116,114,633 (GRCm39) |
E1019G |
probably damaging |
Het |
| Fam120b |
T |
C |
17: 15,635,091 (GRCm39) |
L601P |
probably damaging |
Het |
| Fhit |
C |
A |
14: 9,763,762 (GRCm38) |
R172L |
possibly damaging |
Het |
| Hoxa6 |
T |
C |
6: 52,183,523 (GRCm39) |
H174R |
possibly damaging |
Het |
| Htra4 |
A |
G |
8: 25,520,561 (GRCm39) |
F367L |
probably damaging |
Het |
| Ighg2c |
A |
G |
12: 113,251,930 (GRCm39) |
I102T |
unknown |
Het |
| Iws1 |
T |
C |
18: 32,219,326 (GRCm39) |
|
probably benign |
Het |
| Lats2 |
A |
G |
14: 57,933,591 (GRCm39) |
V842A |
probably damaging |
Het |
| Limd2 |
C |
T |
11: 106,050,213 (GRCm39) |
M1I |
probably null |
Het |
| Lrp2 |
T |
A |
2: 69,348,787 (GRCm39) |
Q728L |
probably damaging |
Het |
| Mcc |
T |
A |
18: 44,606,707 (GRCm39) |
T400S |
possibly damaging |
Het |
| Mthfd1l |
A |
G |
10: 3,997,898 (GRCm39) |
D623G |
probably damaging |
Het |
| Myocos |
T |
C |
1: 162,484,665 (GRCm39) |
|
probably benign |
Het |
| Nat1 |
G |
T |
8: 67,943,995 (GRCm39) |
A124S |
probably benign |
Het |
| Nfya |
A |
T |
17: 48,702,715 (GRCm39) |
M62K |
probably benign |
Het |
| Nlgn1 |
A |
G |
3: 25,490,506 (GRCm39) |
V378A |
probably damaging |
Het |
| Or52r1c |
T |
A |
7: 102,735,265 (GRCm39) |
I175N |
possibly damaging |
Het |
| Or5ak22 |
A |
T |
2: 85,230,861 (GRCm39) |
N5K |
probably damaging |
Het |
| Pitpnm2 |
T |
C |
5: 124,269,234 (GRCm39) |
S463G |
probably benign |
Het |
| Slc16a13 |
T |
C |
11: 70,108,661 (GRCm39) |
T390A |
probably benign |
Het |
| Slc7a14 |
A |
G |
3: 31,278,372 (GRCm39) |
M411T |
probably damaging |
Het |
| Strn |
A |
G |
17: 79,043,886 (GRCm39) |
F11L |
probably damaging |
Het |
| Swap70 |
T |
A |
7: 109,854,956 (GRCm39) |
F85L |
possibly damaging |
Het |
| Tanc2 |
T |
A |
11: 105,689,479 (GRCm39) |
W214R |
probably benign |
Het |
| Tenm3 |
T |
C |
8: 48,729,773 (GRCm39) |
K1411R |
probably benign |
Het |
| Tmem176a |
G |
T |
6: 48,820,759 (GRCm39) |
R116L |
probably damaging |
Het |
| Trim71 |
G |
T |
9: 114,354,115 (GRCm39) |
H296Q |
probably damaging |
Het |
| Vmn1r67 |
A |
T |
7: 10,180,840 (GRCm39) |
I35L |
probably benign |
Het |
| Vnn3 |
A |
G |
10: 23,727,620 (GRCm39) |
T47A |
probably benign |
Het |
| Zscan10 |
A |
T |
17: 23,824,581 (GRCm39) |
Q12H |
probably 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCTGTGCTGATCTTACACTGAC -3'
(R):5'- GCTGGGAGCATAAACAATAATGTGTAC -3'
Sequencing Primer
(F):5'- GTGCTGATCTTACACTGACTTCCAC -3'
(R):5'- TGTGTACAGTTTATTTGTGCAAAAC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation