Incidental Mutation 'IGL01900:Serpinb6c'
| ID |
179494 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Serpinb6c
|
| Ensembl Gene |
ENSMUSG00000052180 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade B, member 6c |
| Synonyms |
Spi3C, SPIC, ovalbumin |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.165)
|
| Stock # |
IGL01900
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
34063799-34089691 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 34064173 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 294
(M294K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127619
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110273]
[ENSMUST00000172184]
|
| AlphaFold |
W4VSP4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110273
AA Change: M294K
PolyPhen 2
Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105902
Gene: ENSMUSG00000052180
AA Change: M294K
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
378 |
7.5e-170 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000172184
AA Change: M294K
PolyPhen 2
Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000127619
Gene: ENSMUSG00000052180
AA Change: M294K
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
14 |
379 |
7.5e-170 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aoc2 |
T |
C |
11: 101,219,649 (GRCm39) |
Y627H |
probably damaging |
Het |
| Car14 |
T |
C |
3: 95,808,533 (GRCm39) |
D27G |
probably benign |
Het |
| Col6a3 |
A |
G |
1: 90,722,732 (GRCm39) |
|
probably null |
Het |
| Ddx60 |
T |
C |
8: 62,453,743 (GRCm39) |
|
probably benign |
Het |
| Dhrs4 |
A |
G |
14: 55,725,654 (GRCm39) |
E236G |
probably benign |
Het |
| Fpr1 |
T |
A |
17: 18,097,783 (GRCm39) |
T69S |
probably damaging |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,618,011 (GRCm39) |
|
probably benign |
Het |
| Hook2 |
T |
C |
8: 85,727,940 (GRCm39) |
|
probably benign |
Het |
| Krt6b |
C |
T |
15: 101,585,981 (GRCm39) |
R364H |
possibly damaging |
Het |
| Myh2 |
T |
A |
11: 67,074,609 (GRCm39) |
I720N |
probably benign |
Het |
| Optc |
A |
G |
1: 133,829,867 (GRCm39) |
V181A |
possibly damaging |
Het |
| Or52n5 |
A |
G |
7: 104,588,369 (GRCm39) |
D212G |
probably damaging |
Het |
| Ptprn |
A |
G |
1: 75,228,892 (GRCm39) |
|
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,333,841 (GRCm39) |
T3018A |
probably benign |
Het |
| Rps27l |
T |
A |
9: 66,854,225 (GRCm39) |
|
probably benign |
Het |
| Spef1l |
A |
T |
7: 139,552,483 (GRCm39) |
V274E |
probably damaging |
Het |
| Tekt2 |
G |
T |
4: 126,218,421 (GRCm39) |
T83K |
probably benign |
Het |
| Vmn2r62 |
T |
A |
7: 42,438,495 (GRCm39) |
N114Y |
probably benign |
Het |
|
| Other mutations in Serpinb6c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00852:Serpinb6c
|
APN |
13 |
34,081,321 (GRCm39) |
splice site |
probably null |
|
|
IGL01983:Serpinb6c
|
APN |
13 |
34,081,317 (GRCm39) |
splice site |
probably benign |
|
|
IGL03357:Serpinb6c
|
APN |
13 |
34,079,369 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0208:Serpinb6c
|
UTSW |
13 |
34,081,379 (GRCm39) |
missense |
probably benign |
|
|
R0242:Serpinb6c
|
UTSW |
13 |
34,083,230 (GRCm39) |
splice site |
probably benign |
|
|
R0632:Serpinb6c
|
UTSW |
13 |
34,064,014 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0669:Serpinb6c
|
UTSW |
13 |
34,083,252 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0848:Serpinb6c
|
UTSW |
13 |
34,083,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1657:Serpinb6c
|
UTSW |
13 |
34,064,209 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3911:Serpinb6c
|
UTSW |
13 |
34,077,888 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5135:Serpinb6c
|
UTSW |
13 |
34,064,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5275:Serpinb6c
|
UTSW |
13 |
34,077,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5295:Serpinb6c
|
UTSW |
13 |
34,077,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5700:Serpinb6c
|
UTSW |
13 |
34,083,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7490:Serpinb6c
|
UTSW |
13 |
34,077,818 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7514:Serpinb6c
|
UTSW |
13 |
34,081,386 (GRCm39) |
nonsense |
probably null |
|
|
R7517:Serpinb6c
|
UTSW |
13 |
34,079,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7547:Serpinb6c
|
UTSW |
13 |
34,077,875 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7730:Serpinb6c
|
UTSW |
13 |
34,083,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8121:Serpinb6c
|
UTSW |
13 |
34,064,201 (GRCm39) |
missense |
probably benign |
0.38 |
|
R8142:Serpinb6c
|
UTSW |
13 |
34,064,096 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8745:Serpinb6c
|
UTSW |
13 |
34,064,702 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8855:Serpinb6c
|
UTSW |
13 |
34,083,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8866:Serpinb6c
|
UTSW |
13 |
34,083,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9412:Serpinb6c
|
UTSW |
13 |
34,081,371 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9489:Serpinb6c
|
UTSW |
13 |
34,081,421 (GRCm39) |
missense |
probably null |
0.20 |
|
R9643:Serpinb6c
|
UTSW |
13 |
34,079,303 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0063:Serpinb6c
|
UTSW |
13 |
34,064,688 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
Z1088:Serpinb6c
|
UTSW |
13 |
34,077,906 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1088:Serpinb6c
|
UTSW |
13 |
34,077,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation