Incidental Mutation 'R5519:Serpinb3b'
| ID |
431443 |
| 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 |
043078-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R5519 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
107081691-107088844 bp(-) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
A to G
at 107087506 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 1
(M1T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132370
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086694]
[ENSMUST00000166100]
|
| AlphaFold |
Q9D1Q5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000086694
AA Change: M1T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000083901
Gene: ENSMUSG00000073602
AA Change: M1T
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
387 |
4.75e-181 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000166100
AA Change: M1T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132370
Gene: ENSMUSG00000073602
AA Change: M1T
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
387 |
4.75e-181 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 97.6%
- 10x: 94.7%
- 20x: 88.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700067K01Rik |
T |
C |
8: 84,729,621 (GRCm39) |
V99A |
possibly damaging |
Het |
| 2510009E07Rik |
A |
G |
16: 21,472,218 (GRCm39) |
S91P |
probably benign |
Het |
| 2810021J22Rik |
G |
A |
11: 58,770,923 (GRCm39) |
S135N |
probably benign |
Het |
| A530084C06Rik |
T |
C |
13: 31,742,702 (GRCm39) |
|
probably benign |
Het |
| Acadsb |
T |
C |
7: 131,031,694 (GRCm39) |
S177P |
probably damaging |
Het |
| Acp3 |
C |
A |
9: 104,168,687 (GRCm39) |
G393W |
probably damaging |
Het |
| Axl |
G |
A |
7: 25,478,087 (GRCm39) |
A204V |
possibly damaging |
Het |
| Birc6 |
A |
T |
17: 74,887,173 (GRCm39) |
M806L |
probably benign |
Het |
| Cacna1i |
T |
C |
15: 80,255,700 (GRCm39) |
L861P |
probably damaging |
Het |
| Cfap44 |
A |
T |
16: 44,224,451 (GRCm39) |
D53V |
probably damaging |
Het |
| Col9a1 |
G |
A |
1: 24,269,335 (GRCm39) |
|
probably null |
Het |
| Ctf2 |
T |
A |
7: 127,318,463 (GRCm39) |
I179L |
probably benign |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Emilin2 |
G |
A |
17: 71,559,930 (GRCm39) |
P1016S |
probably benign |
Het |
| Gm12790 |
G |
A |
4: 101,824,888 (GRCm39) |
P127S |
probably benign |
Het |
| Gsap |
T |
A |
5: 21,494,857 (GRCm39) |
V24E |
probably damaging |
Het |
| Ipp |
T |
C |
4: 116,367,964 (GRCm39) |
F66L |
possibly damaging |
Het |
| Jakmip3 |
T |
C |
7: 138,609,520 (GRCm39) |
I208T |
probably damaging |
Het |
| Med30 |
G |
T |
15: 52,584,462 (GRCm39) |
D127Y |
probably damaging |
Het |
| Mosmo |
C |
T |
7: 120,329,733 (GRCm39) |
P118L |
probably benign |
Het |
| Ncam2 |
C |
T |
16: 81,231,766 (GRCm39) |
R77* |
probably null |
Het |
| Nfkb2 |
G |
T |
19: 46,296,006 (GRCm39) |
E170D |
probably benign |
Het |
| Or51a42 |
G |
A |
7: 103,708,504 (GRCm39) |
Q102* |
probably null |
Het |
| Padi2 |
A |
G |
4: 140,676,533 (GRCm39) |
D557G |
probably damaging |
Het |
| Pde11a |
T |
A |
2: 75,906,299 (GRCm39) |
K639N |
probably damaging |
Het |
| Pspc1 |
T |
C |
14: 57,009,413 (GRCm39) |
I140M |
probably benign |
Het |
| Rundc3a |
A |
T |
11: 102,292,857 (GRCm39) |
I417F |
probably benign |
Het |
| Scn1a |
T |
A |
2: 66,162,557 (GRCm39) |
I230F |
probably damaging |
Het |
| Sin3a |
T |
C |
9: 57,025,457 (GRCm39) |
|
probably null |
Het |
| St8sia1 |
T |
C |
6: 142,909,287 (GRCm39) |
N70D |
probably damaging |
Het |
| Tdpoz4 |
A |
T |
3: 93,704,806 (GRCm39) |
T368S |
probably benign |
Het |
| Tpm2 |
T |
G |
4: 43,522,751 (GRCm39) |
D55A |
possibly damaging |
Het |
| Trdv1 |
T |
A |
14: 54,119,405 (GRCm39) |
M22K |
probably benign |
Het |
| Zc3h4 |
A |
T |
7: 16,169,157 (GRCm39) |
T1089S |
unknown |
Het |
| Zfp518b |
G |
A |
5: 38,831,441 (GRCm39) |
T188M |
probably damaging |
Het |
| Zfp74 |
G |
T |
7: 29,634,559 (GRCm39) |
A383D |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTATACACTGACAGAGAGCTAGGG -3'
(R):5'- TCCTTCTAGTACATTGCAGAAGG -3'
Sequencing Primer
(F):5'- CTAGGGAGACTAATTCAAGCTGATC -3'
(R):5'- CAGAGAGATGCTTTATTTAGTG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation