Incidental Mutation 'IGL01983:Serpinb6c'
| ID |
183541 |
| 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 # |
IGL01983
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
34063799-34089691 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 34081317 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152676
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110273]
[ENSMUST00000172184]
[ENSMUST00000222216]
|
| AlphaFold |
W4VSP4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110273
|
| SMART Domains |
Protein: ENSMUSP00000105902
Gene: ENSMUSG00000052180
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
378 |
7.5e-170 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172184
|
| SMART Domains |
Protein: ENSMUSP00000127619
Gene: ENSMUSG00000052180
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
14 |
379 |
7.5e-170 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222216
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadl |
G |
A |
1: 66,880,783 (GRCm39) |
Q328* |
probably null |
Het |
| Alpk2 |
T |
C |
18: 65,483,753 (GRCm39) |
Y85C |
probably damaging |
Het |
| Arhgap31 |
C |
T |
16: 38,422,127 (GRCm39) |
R1313Q |
probably damaging |
Het |
| Chrnb1 |
G |
T |
11: 69,686,555 (GRCm39) |
R22S |
probably benign |
Het |
| Clec7a |
G |
A |
6: 129,442,539 (GRCm39) |
|
probably benign |
Het |
| Cyrib |
A |
G |
15: 63,809,236 (GRCm39) |
S251P |
probably benign |
Het |
| Epb41l5 |
A |
G |
1: 119,506,814 (GRCm39) |
|
probably benign |
Het |
| Hdac1-ps |
T |
A |
17: 78,800,282 (GRCm39) |
D424E |
probably benign |
Het |
| Hydin |
A |
C |
8: 111,241,527 (GRCm39) |
I2106L |
probably benign |
Het |
| Igkv3-5 |
T |
A |
6: 70,640,670 (GRCm39) |
D50E |
probably benign |
Het |
| Irf2bp1 |
G |
T |
7: 18,739,220 (GRCm39) |
A287S |
possibly damaging |
Het |
| Ldb3 |
G |
A |
14: 34,299,156 (GRCm39) |
S156L |
probably benign |
Het |
| Lnpep |
A |
T |
17: 17,751,440 (GRCm39) |
W942R |
probably damaging |
Het |
| Mst1r |
T |
A |
9: 107,794,475 (GRCm39) |
V1218D |
probably damaging |
Het |
| Naxd |
G |
T |
8: 11,560,218 (GRCm39) |
|
probably benign |
Het |
| Nol9 |
T |
C |
4: 152,130,494 (GRCm39) |
|
probably null |
Het |
| Nus1 |
T |
A |
10: 52,312,753 (GRCm39) |
L295Q |
probably damaging |
Het |
| Nxph2 |
A |
G |
2: 23,289,946 (GRCm39) |
I99M |
probably benign |
Het |
| Plekhg1 |
T |
A |
10: 3,895,904 (GRCm39) |
I432N |
probably damaging |
Het |
| Pon3 |
A |
G |
6: 5,240,974 (GRCm39) |
L69S |
probably damaging |
Het |
| Pram1 |
C |
A |
17: 33,859,835 (GRCm39) |
A134D |
probably damaging |
Het |
| Stk10 |
A |
T |
11: 32,539,460 (GRCm39) |
E280V |
probably benign |
Het |
| Tbc1d10c |
T |
A |
19: 4,240,708 (GRCm39) |
Q34L |
possibly damaging |
Het |
| Tnr |
G |
A |
1: 159,691,349 (GRCm39) |
V500I |
probably benign |
Het |
| Trim66 |
G |
A |
7: 109,057,458 (GRCm39) |
R992* |
probably null |
Het |
| Unc45b |
A |
G |
11: 82,827,687 (GRCm39) |
D728G |
probably benign |
Het |
| Usp13 |
A |
G |
3: 32,971,608 (GRCm39) |
D696G |
probably damaging |
Het |
| Utrn |
C |
T |
10: 12,545,525 (GRCm39) |
V1707I |
probably benign |
Het |
| Vmn2r96 |
A |
T |
17: 18,817,527 (GRCm39) |
H368L |
probably damaging |
Het |
| Xrn1 |
T |
C |
9: 95,855,421 (GRCm39) |
|
probably null |
Het |
| Zfhx3 |
C |
A |
8: 109,673,866 (GRCm39) |
L1639M |
probably damaging |
Het |
| Znfx1 |
A |
T |
2: 166,898,270 (GRCm39) |
V218E |
probably damaging |
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 |
|
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