Incidental Mutation 'IGL03394:Serpinb3c'
| ID |
421168 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Serpinb3c
|
| Ensembl Gene |
ENSMUSG00000073601 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade B, member 3C |
| Synonyms |
ovalbumin, Serpinb4, 1110013A16Rik, 1110001H02Rik, Scca2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
IGL03394
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
107198931-107206101 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 107199603 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 306
(D306G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027565
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027565]
[ENSMUST00000166100]
|
| AlphaFold |
A2RSF9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027565
AA Change: D306G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000027565
Gene: ENSMUSG00000073601
AA Change: D306G
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
386 |
7.91e-169 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166100
|
| SMART Domains |
Protein: ENSMUSP00000132370
Gene: ENSMUSG00000073602
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
387 |
4.75e-181 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
A |
G |
17: 46,635,277 (GRCm39) |
L242P |
probably damaging |
Het |
| Adam22 |
T |
C |
5: 8,217,379 (GRCm39) |
I139V |
probably benign |
Het |
| Ahr |
G |
T |
12: 35,553,751 (GRCm39) |
Y789* |
probably null |
Het |
| Ankrd27 |
C |
A |
7: 35,306,523 (GRCm39) |
|
probably null |
Het |
| Ano1 |
T |
C |
7: 144,149,176 (GRCm39) |
|
probably null |
Het |
| Ap4e1 |
T |
A |
2: 126,905,317 (GRCm39) |
M996K |
probably benign |
Het |
| Bglap |
T |
C |
3: 88,291,312 (GRCm39) |
K42E |
probably benign |
Het |
| Ccdc30 |
A |
T |
4: 119,216,779 (GRCm39) |
S220R |
probably damaging |
Het |
| Clic5 |
A |
G |
17: 44,548,105 (GRCm39) |
N50S |
probably benign |
Het |
| Csnk2a1-ps3 |
A |
T |
1: 156,352,792 (GRCm39) |
Q331L |
probably benign |
Het |
| Cyp20a1 |
T |
G |
1: 60,405,840 (GRCm39) |
D211E |
probably damaging |
Het |
| Dctn1 |
G |
A |
6: 83,168,266 (GRCm39) |
V408I |
possibly damaging |
Het |
| Exoc6 |
T |
C |
19: 37,588,020 (GRCm39) |
I551T |
probably benign |
Het |
| Fat4 |
C |
T |
3: 38,946,168 (GRCm39) |
T1687M |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 39,063,513 (GRCm39) |
C4490S |
probably damaging |
Het |
| Fras1 |
T |
A |
5: 96,815,336 (GRCm39) |
I1351N |
probably damaging |
Het |
| Igkv2-116 |
T |
C |
6: 68,129,327 (GRCm39) |
|
noncoding transcript |
Het |
| Iws1 |
T |
G |
18: 32,221,301 (GRCm39) |
|
probably benign |
Het |
| Mlh1 |
A |
T |
9: 111,097,311 (GRCm39) |
I61N |
probably damaging |
Het |
| Mtmr7 |
C |
T |
8: 41,061,972 (GRCm39) |
V38M |
probably damaging |
Het |
| Myh7 |
G |
T |
14: 55,212,818 (GRCm39) |
A1409D |
probably damaging |
Het |
| Myt1 |
A |
T |
2: 181,439,638 (GRCm39) |
I387F |
probably damaging |
Het |
| Nars2 |
A |
G |
7: 96,689,220 (GRCm39) |
N381D |
possibly damaging |
Het |
| Nsd3 |
T |
C |
8: 26,165,765 (GRCm39) |
|
probably benign |
Het |
| Nup107 |
A |
G |
10: 117,617,933 (GRCm39) |
S162P |
probably damaging |
Het |
| Oog2 |
T |
C |
4: 143,920,576 (GRCm39) |
F3S |
probably benign |
Het |
| Or8b1b |
A |
G |
9: 38,375,517 (GRCm39) |
Y60C |
probably damaging |
Het |
| Oxgr1 |
T |
C |
14: 120,260,022 (GRCm39) |
M62V |
possibly damaging |
Het |
| Pcgf1 |
A |
G |
6: 83,056,121 (GRCm39) |
Y75C |
probably damaging |
Het |
| Ppp3cc |
C |
A |
14: 70,462,477 (GRCm39) |
E396* |
probably null |
Het |
| Ptx4 |
T |
A |
17: 25,343,649 (GRCm39) |
C300S |
probably damaging |
Het |
| Rassf4 |
C |
T |
6: 116,618,708 (GRCm39) |
V192I |
probably damaging |
Het |
| Rundc3b |
T |
C |
5: 8,598,261 (GRCm39) |
T203A |
possibly damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,218,398 (GRCm39) |
E313G |
possibly damaging |
Het |
| Snx5 |
G |
A |
2: 144,095,674 (GRCm39) |
A329V |
probably damaging |
Het |
| Stx1b |
T |
C |
7: 127,407,056 (GRCm39) |
D213G |
probably damaging |
Het |
| Tpd52l2 |
G |
A |
2: 181,156,879 (GRCm39) |
V172I |
probably benign |
Het |
| Trim50 |
A |
T |
5: 135,392,807 (GRCm39) |
I241F |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,580,760 (GRCm39) |
H23378Y |
probably benign |
Het |
| Vmn1r193 |
T |
A |
13: 22,403,939 (GRCm39) |
M18L |
probably benign |
Het |
| Vmn1r226 |
A |
G |
17: 20,908,446 (GRCm39) |
N226S |
probably benign |
Het |
| Vmn2r14 |
T |
A |
5: 109,367,702 (GRCm39) |
Q430L |
probably null |
Het |
| Xirp2 |
T |
A |
2: 67,345,538 (GRCm39) |
V2593D |
probably damaging |
Het |
| Zfp169 |
A |
T |
13: 48,643,400 (GRCm39) |
F576I |
possibly damaging |
Het |
| Zfp667 |
T |
C |
7: 6,292,438 (GRCm39) |
|
probably null |
Het |
| Zzef1 |
A |
G |
11: 72,777,601 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Serpinb3c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00847:Serpinb3c
|
APN |
1 |
107,203,990 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01349:Serpinb3c
|
APN |
1 |
107,200,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01730:Serpinb3c
|
APN |
1 |
107,200,914 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01732:Serpinb3c
|
APN |
1 |
107,199,702 (GRCm39) |
missense |
probably benign |
|
|
IGL02184:Serpinb3c
|
APN |
1 |
107,199,648 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02742:Serpinb3c
|
APN |
1 |
107,200,872 (GRCm39) |
nonsense |
probably null |
|
|
IGL03131:Serpinb3c
|
APN |
1 |
107,199,457 (GRCm39) |
missense |
probably benign |
0.09 |
|
BB001:Serpinb3c
|
UTSW |
1 |
107,200,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB011:Serpinb3c
|
UTSW |
1 |
107,200,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0207:Serpinb3c
|
UTSW |
1 |
107,204,722 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0508:Serpinb3c
|
UTSW |
1 |
107,204,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1542:Serpinb3c
|
UTSW |
1 |
107,200,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1660:Serpinb3c
|
UTSW |
1 |
107,199,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1731:Serpinb3c
|
UTSW |
1 |
107,199,504 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2012:Serpinb3c
|
UTSW |
1 |
107,199,574 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5361:Serpinb3c
|
UTSW |
1 |
107,204,661 (GRCm39) |
nonsense |
probably null |
|
|
R5464:Serpinb3c
|
UTSW |
1 |
107,199,434 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5636:Serpinb3c
|
UTSW |
1 |
107,202,744 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R5677:Serpinb3c
|
UTSW |
1 |
107,199,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5965:Serpinb3c
|
UTSW |
1 |
107,204,653 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6424:Serpinb3c
|
UTSW |
1 |
107,199,359 (GRCm39) |
makesense |
probably null |
|
|
R7132:Serpinb3c
|
UTSW |
1 |
107,204,681 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7161:Serpinb3c
|
UTSW |
1 |
107,200,892 (GRCm39) |
missense |
probably null |
1.00 |
|
R7319:Serpinb3c
|
UTSW |
1 |
107,200,817 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7437:Serpinb3c
|
UTSW |
1 |
107,199,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7871:Serpinb3c
|
UTSW |
1 |
107,200,883 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7922:Serpinb3c
|
UTSW |
1 |
107,199,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7924:Serpinb3c
|
UTSW |
1 |
107,200,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8114:Serpinb3c
|
UTSW |
1 |
107,204,034 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8189:Serpinb3c
|
UTSW |
1 |
107,204,039 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8384:Serpinb3c
|
UTSW |
1 |
107,199,697 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9042:Serpinb3c
|
UTSW |
1 |
107,199,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9518:Serpinb3c
|
UTSW |
1 |
107,200,468 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9566:Serpinb3c
|
UTSW |
1 |
107,200,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation