Incidental Mutation 'IGL03357:Serpinb6c'
| ID |
419974 |
| 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: 0.153)
|
| Stock # |
IGL03357
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
34063799-34089691 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 34079369 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 108
(S108T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152676
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110273]
[ENSMUST00000172184]
[ENSMUST00000222216]
|
| AlphaFold |
W4VSP4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110273
AA Change: S108T
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000105902
Gene: ENSMUSG00000052180
AA Change: S108T
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
378 |
7.5e-170 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172184
AA Change: S108T
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000127619
Gene: ENSMUSG00000052180
AA Change: S108T
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
14 |
379 |
7.5e-170 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222216
AA Change: S108T
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
C |
T |
19: 8,986,689 (GRCm39) |
|
probably benign |
Het |
| Asah1 |
A |
G |
8: 41,799,233 (GRCm39) |
|
probably benign |
Het |
| Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
| Chd6 |
T |
C |
2: 160,859,936 (GRCm39) |
|
probably benign |
Het |
| Chn2 |
G |
A |
6: 54,171,062 (GRCm39) |
R47Q |
probably benign |
Het |
| Clmp |
A |
G |
9: 40,597,623 (GRCm39) |
|
probably benign |
Het |
| Col11a1 |
G |
A |
3: 113,987,740 (GRCm39) |
G245R |
probably damaging |
Het |
| Cyp4a32 |
T |
A |
4: 115,468,798 (GRCm39) |
S395T |
probably benign |
Het |
| Dcc |
A |
T |
18: 71,460,625 (GRCm39) |
I1155K |
probably damaging |
Het |
| Dpy19l4 |
G |
A |
4: 11,267,615 (GRCm39) |
H442Y |
probably damaging |
Het |
| Dpys |
T |
C |
15: 39,687,612 (GRCm39) |
I395M |
probably damaging |
Het |
| Dpysl2 |
T |
C |
14: 67,050,736 (GRCm39) |
K374E |
probably damaging |
Het |
| Fryl |
A |
T |
5: 73,211,402 (GRCm39) |
D660E |
probably damaging |
Het |
| Gabrb2 |
T |
C |
11: 42,482,771 (GRCm39) |
F210L |
probably damaging |
Het |
| Gm4831 |
C |
T |
17: 37,422,879 (GRCm39) |
|
probably benign |
Het |
| Igsf10 |
A |
T |
3: 59,243,632 (GRCm39) |
M234K |
probably benign |
Het |
| Ints11 |
T |
C |
4: 155,956,581 (GRCm39) |
|
probably benign |
Het |
| Mex3a |
T |
A |
3: 88,443,553 (GRCm39) |
S210T |
probably benign |
Het |
| Or4k42 |
C |
T |
2: 111,320,289 (GRCm39) |
M71I |
probably benign |
Het |
| Or4k52 |
G |
A |
2: 111,610,871 (GRCm39) |
V69I |
probably benign |
Het |
| Pde1c |
A |
G |
6: 56,157,078 (GRCm39) |
V106A |
probably damaging |
Het |
| Pitpnm3 |
G |
A |
11: 71,961,716 (GRCm39) |
Q284* |
probably null |
Het |
| Pkd1l2 |
A |
G |
8: 117,722,548 (GRCm39) |
L2420P |
probably damaging |
Het |
| Prpf39 |
A |
G |
12: 65,108,211 (GRCm39) |
|
probably benign |
Het |
| Prss28 |
C |
T |
17: 25,528,669 (GRCm39) |
T37I |
probably benign |
Het |
| Snx7 |
T |
C |
3: 117,632,524 (GRCm39) |
H131R |
probably damaging |
Het |
| Tex101 |
A |
T |
7: 24,367,758 (GRCm39) |
I198K |
probably damaging |
Het |
| Thoc2l |
T |
G |
5: 104,668,334 (GRCm39) |
V952G |
probably damaging |
Het |
| Thumpd2 |
T |
C |
17: 81,351,519 (GRCm39) |
|
probably benign |
Het |
| Ubqln3 |
A |
C |
7: 103,791,763 (GRCm39) |
I109S |
probably benign |
Het |
| Zfp212 |
A |
T |
6: 47,907,771 (GRCm39) |
N250I |
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 |
|
|
IGL01900:Serpinb6c
|
APN |
13 |
34,064,173 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL01983:Serpinb6c
|
APN |
13 |
34,081,317 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2016-08-02 |
Incidental Mutation