Incidental Mutation 'IGL00586:Serpinb1c'
| ID |
277815 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Serpinb1c
|
| Ensembl Gene |
ENSMUSG00000079049 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade B, member 1c |
| Synonyms |
EIC, ovalbumin |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.182)
|
| Stock # |
IGL00586
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
33065417-33082194 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 33067958 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 213
(K213E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021834
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021834]
[ENSMUST00000221019]
|
| AlphaFold |
Q5SV42 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021834
AA Change: K213E
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000021834
Gene: ENSMUSG00000079049
AA Change: K213E
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
375 |
1.67e-167 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221019
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl5b |
T |
C |
2: 15,074,746 (GRCm39) |
S76P |
probably benign |
Het |
| Asap3 |
A |
C |
4: 135,933,879 (GRCm39) |
D17A |
probably damaging |
Het |
| Ccdc24 |
C |
T |
4: 117,729,243 (GRCm39) |
R78H |
probably damaging |
Het |
| Crp |
T |
C |
1: 172,526,568 (GRCm39) |
F218L |
probably benign |
Het |
| Dab2 |
T |
C |
15: 6,459,306 (GRCm39) |
L385P |
probably benign |
Het |
| Dip2c |
C |
A |
13: 9,660,791 (GRCm39) |
T855N |
probably damaging |
Het |
| Dnai7 |
A |
T |
6: 145,137,302 (GRCm39) |
F269I |
possibly damaging |
Het |
| Dync2i1 |
A |
T |
12: 116,205,400 (GRCm39) |
D396E |
probably benign |
Het |
| Ep400 |
A |
G |
5: 110,887,460 (GRCm39) |
V541A |
probably damaging |
Het |
| Gbgt1 |
A |
T |
2: 28,392,207 (GRCm39) |
|
probably null |
Het |
| Gm6871 |
A |
T |
7: 41,195,845 (GRCm39) |
D297E |
possibly damaging |
Het |
| Gpr107 |
T |
A |
2: 31,062,006 (GRCm39) |
F145I |
probably benign |
Het |
| Itgb6 |
T |
G |
2: 60,450,696 (GRCm39) |
D581A |
probably benign |
Het |
| Lce1a1 |
C |
T |
3: 92,554,470 (GRCm39) |
M1I |
probably null |
Het |
| Lmbrd2 |
G |
A |
15: 9,157,382 (GRCm39) |
V207M |
probably damaging |
Het |
| Muc5b |
T |
A |
7: 141,395,129 (GRCm39) |
V45E |
unknown |
Het |
| Mybpc2 |
A |
G |
7: 44,154,806 (GRCm39) |
V977A |
probably damaging |
Het |
| Oas1c |
T |
C |
5: 120,946,744 (GRCm39) |
T29A |
probably benign |
Het |
| Pdzd2 |
G |
T |
15: 12,365,853 (GRCm39) |
|
probably null |
Het |
| Plk2 |
T |
C |
13: 110,532,912 (GRCm39) |
Y158H |
possibly damaging |
Het |
| Prss1l |
T |
C |
6: 41,373,049 (GRCm39) |
I107T |
probably damaging |
Het |
| Ptprq |
A |
G |
10: 107,443,983 (GRCm39) |
|
probably benign |
Het |
| Rnf17 |
C |
T |
14: 56,658,539 (GRCm39) |
T76I |
probably damaging |
Het |
| Sidt2 |
A |
G |
9: 45,854,350 (GRCm39) |
V624A |
possibly damaging |
Het |
| Sin3b |
T |
C |
8: 73,483,628 (GRCm39) |
V1005A |
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,182,495 (GRCm39) |
V358A |
possibly damaging |
Het |
| Zfp120 |
T |
C |
2: 149,961,748 (GRCm39) |
I67V |
possibly damaging |
Het |
| Zfp942 |
A |
T |
17: 22,147,605 (GRCm39) |
H341Q |
probably damaging |
Het |
|
| Other mutations in Serpinb1c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00482:Serpinb1c
|
APN |
13 |
33,067,958 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00490:Serpinb1c
|
APN |
13 |
33,067,958 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00497:Serpinb1c
|
APN |
13 |
33,067,958 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00501:Serpinb1c
|
APN |
13 |
33,067,958 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00567:Serpinb1c
|
APN |
13 |
33,067,958 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00575:Serpinb1c
|
APN |
13 |
33,067,958 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00585:Serpinb1c
|
APN |
13 |
33,067,958 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00588:Serpinb1c
|
APN |
13 |
33,067,958 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00589:Serpinb1c
|
APN |
13 |
33,067,958 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00983:Serpinb1c
|
APN |
13 |
33,068,207 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL01589:Serpinb1c
|
APN |
13 |
33,070,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03393:Serpinb1c
|
APN |
13 |
33,066,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0096:Serpinb1c
|
UTSW |
13 |
33,070,266 (GRCm39) |
splice site |
probably benign |
|
|
R0711:Serpinb1c
|
UTSW |
13 |
33,070,266 (GRCm39) |
splice site |
probably benign |
|
|
R1222:Serpinb1c
|
UTSW |
13 |
33,080,934 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1301:Serpinb1c
|
UTSW |
13 |
33,080,943 (GRCm39) |
nonsense |
probably null |
|
|
R1570:Serpinb1c
|
UTSW |
13 |
33,080,973 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1574:Serpinb1c
|
UTSW |
13 |
33,072,979 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1574:Serpinb1c
|
UTSW |
13 |
33,072,979 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1891:Serpinb1c
|
UTSW |
13 |
33,068,235 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4932:Serpinb1c
|
UTSW |
13 |
33,066,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5831:Serpinb1c
|
UTSW |
13 |
33,081,081 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R6010:Serpinb1c
|
UTSW |
13 |
33,066,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6701:Serpinb1c
|
UTSW |
13 |
33,080,924 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7522:Serpinb1c
|
UTSW |
13 |
33,066,200 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7945:Serpinb1c
|
UTSW |
13 |
33,070,192 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8050:Serpinb1c
|
UTSW |
13 |
33,066,052 (GRCm39) |
nonsense |
probably null |
|
|
R8155:Serpinb1c
|
UTSW |
13 |
33,081,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9045:Serpinb1c
|
UTSW |
13 |
33,066,027 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9340:Serpinb1c
|
UTSW |
13 |
33,066,172 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation