Incidental Mutation 'R3032:Serpinb6b'
| ID |
264756 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Serpinb6b
|
| Ensembl Gene |
ENSMUSG00000042842 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade B, member 6b |
| Synonyms |
NK13, ovalbumin, Spi12 |
| MMRRC Submission |
040548-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R3032 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
33149192-33163050 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 33152551 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 20
(G20D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000017184
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017184]
[ENSMUST00000110293]
[ENSMUST00000164541]
|
| AlphaFold |
O08804 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000017184
AA Change: G20D
PolyPhen 2
Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000017184
Gene: ENSMUSG00000042842
AA Change: G20D
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
208 |
1.22e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110293
AA Change: G20D
PolyPhen 2
Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000105922
Gene: ENSMUSG00000042842
AA Change: G20D
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
377 |
1.99e-174 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164541
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222967
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox2 |
A |
T |
14: 8,253,466 (GRCm38) |
L227Q |
probably damaging |
Het |
| Ddx41 |
G |
A |
13: 55,682,293 (GRCm39) |
R205W |
possibly damaging |
Het |
| Dpysl4 |
A |
G |
7: 138,676,152 (GRCm39) |
N315D |
probably benign |
Het |
| Eps8 |
A |
T |
6: 137,489,175 (GRCm39) |
S408T |
probably damaging |
Het |
| F13b |
A |
C |
1: 139,445,071 (GRCm39) |
T574P |
probably damaging |
Het |
| Fgfrl1 |
A |
G |
5: 108,853,926 (GRCm39) |
I344M |
probably benign |
Het |
| Or5b21 |
G |
A |
19: 12,839,282 (GRCm39) |
V48I |
probably benign |
Het |
| Park7 |
T |
C |
4: 150,985,509 (GRCm39) |
K122R |
probably benign |
Het |
| Psg18 |
G |
A |
7: 18,084,904 (GRCm39) |
S64L |
probably benign |
Het |
| Rhbdf1 |
T |
C |
11: 32,159,985 (GRCm39) |
D172G |
probably damaging |
Het |
| Sorcs1 |
G |
A |
19: 50,213,613 (GRCm39) |
R705C |
probably damaging |
Het |
| Syt14 |
A |
T |
1: 192,669,059 (GRCm39) |
Y65N |
possibly damaging |
Het |
| Tll1 |
T |
C |
8: 64,551,526 (GRCm39) |
N285S |
probably damaging |
Het |
| Umodl1 |
G |
A |
17: 31,208,502 (GRCm39) |
R849Q |
probably benign |
Het |
| Upf1 |
C |
T |
8: 70,791,110 (GRCm39) |
R544H |
probably damaging |
Het |
|
| Other mutations in Serpinb6b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00719:Serpinb6b
|
APN |
13 |
33,155,529 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01077:Serpinb6b
|
APN |
13 |
33,162,049 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL01553:Serpinb6b
|
APN |
13 |
33,158,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02981:Serpinb6b
|
APN |
13 |
33,155,589 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0308:Serpinb6b
|
UTSW |
13 |
33,162,220 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1568:Serpinb6b
|
UTSW |
13 |
33,158,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1692:Serpinb6b
|
UTSW |
13 |
33,158,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1763:Serpinb6b
|
UTSW |
13 |
33,162,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1917:Serpinb6b
|
UTSW |
13 |
33,162,223 (GRCm39) |
missense |
probably benign |
|
|
R1918:Serpinb6b
|
UTSW |
13 |
33,162,223 (GRCm39) |
missense |
probably benign |
|
|
R1919:Serpinb6b
|
UTSW |
13 |
33,162,223 (GRCm39) |
missense |
probably benign |
|
|
R1920:Serpinb6b
|
UTSW |
13 |
33,158,991 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4239:Serpinb6b
|
UTSW |
13 |
33,156,246 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5089:Serpinb6b
|
UTSW |
13 |
33,162,133 (GRCm39) |
missense |
probably benign |
|
|
R5503:Serpinb6b
|
UTSW |
13 |
33,161,642 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5540:Serpinb6b
|
UTSW |
13 |
33,161,541 (GRCm39) |
nonsense |
probably null |
|
|
R6061:Serpinb6b
|
UTSW |
13 |
33,161,977 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6253:Serpinb6b
|
UTSW |
13 |
33,156,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7156:Serpinb6b
|
UTSW |
13 |
33,155,598 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7248:Serpinb6b
|
UTSW |
13 |
33,161,559 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7315:Serpinb6b
|
UTSW |
13 |
33,156,240 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7424:Serpinb6b
|
UTSW |
13 |
33,152,650 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7547:Serpinb6b
|
UTSW |
13 |
33,158,907 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7732:Serpinb6b
|
UTSW |
13 |
33,152,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7770:Serpinb6b
|
UTSW |
13 |
33,161,512 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7802:Serpinb6b
|
UTSW |
13 |
33,155,579 (GRCm39) |
|
|
|
|
R8814:Serpinb6b
|
UTSW |
13 |
33,162,287 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8966:Serpinb6b
|
UTSW |
13 |
33,162,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8988:Serpinb6b
|
UTSW |
13 |
33,162,125 (GRCm39) |
missense |
probably benign |
0.45 |
|
R9037:Serpinb6b
|
UTSW |
13 |
33,161,998 (GRCm39) |
nonsense |
probably null |
|
|
R9129:Serpinb6b
|
UTSW |
13 |
33,162,139 (GRCm39) |
small deletion |
probably benign |
|
|
R9377:Serpinb6b
|
UTSW |
13 |
33,152,494 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R9415:Serpinb6b
|
UTSW |
13 |
33,159,002 (GRCm39) |
missense |
|
|
|
R9632:Serpinb6b
|
UTSW |
13 |
33,155,532 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTTCCCAACAGGGCTTATCG -3'
(R):5'- GATCTGAACCAGCTCGACTG -3'
Sequencing Primer
(F):5'- CCCAACAGGGCTTATCGTTTAATGAG -3'
(R):5'- GCTCGACTGACATCAATGATACTTAG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation