Incidental Mutation 'IGL00847:Serpinb3c'
| ID |
13979 |
| 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 # |
IGL00847
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
107198931-107206101 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 107203990 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027565
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027565]
[ENSMUST00000166100]
|
| AlphaFold |
A2RSF9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000027565
|
| SMART Domains |
Protein: ENSMUSP00000027565
Gene: ENSMUSG00000073601
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
T |
C |
19: 57,140,722 (GRCm39) |
E142G |
possibly damaging |
Het |
| Arid4a |
C |
T |
12: 71,122,492 (GRCm39) |
P958S |
probably damaging |
Het |
| Cct5 |
T |
C |
15: 31,591,073 (GRCm39) |
|
probably benign |
Het |
| Cntnap4 |
C |
T |
8: 113,494,251 (GRCm39) |
|
probably benign |
Het |
| Col4a3 |
C |
T |
1: 82,695,590 (GRCm39) |
L1597F |
probably damaging |
Het |
| Gla |
C |
A |
X: 133,495,947 (GRCm39) |
V179L |
probably benign |
Het |
| Gm20422 |
A |
T |
8: 70,195,642 (GRCm39) |
C212* |
probably null |
Het |
| Hace1 |
T |
A |
10: 45,548,453 (GRCm39) |
Y14* |
probably null |
Het |
| Hcfc2 |
T |
A |
10: 82,577,112 (GRCm39) |
|
probably null |
Het |
| Helz2 |
T |
C |
2: 180,874,038 (GRCm39) |
D2152G |
possibly damaging |
Het |
| Lypd10 |
A |
G |
7: 24,413,673 (GRCm39) |
T230A |
probably benign |
Het |
| Mcm8 |
T |
G |
2: 132,661,594 (GRCm39) |
L74V |
probably benign |
Het |
| Myo18b |
A |
G |
5: 112,978,255 (GRCm39) |
|
probably benign |
Het |
| Ptprg |
A |
T |
14: 12,215,265 (GRCm38) |
N1084I |
probably damaging |
Het |
| Rad21l |
C |
A |
2: 151,502,635 (GRCm39) |
A192S |
probably benign |
Het |
| Scn2a |
A |
G |
2: 65,501,078 (GRCm39) |
D80G |
probably damaging |
Het |
| Sgip1 |
A |
G |
4: 102,786,118 (GRCm39) |
|
probably benign |
Het |
| Slc25a41 |
G |
T |
17: 57,341,957 (GRCm39) |
|
probably null |
Het |
| Snx14 |
C |
A |
9: 88,302,382 (GRCm39) |
R140S |
probably damaging |
Het |
| Svs6 |
A |
C |
2: 164,159,507 (GRCm39) |
K90T |
possibly damaging |
Het |
| Tlcd1 |
T |
A |
11: 78,070,914 (GRCm39) |
Y168N |
probably damaging |
Het |
| Vps13d |
A |
G |
4: 144,811,978 (GRCm39) |
I3312T |
probably benign |
Het |
| Zfp11 |
A |
G |
5: 129,734,978 (GRCm39) |
V161A |
probably benign |
Het |
|
| Other mutations in Serpinb3c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL03394:Serpinb3c
|
APN |
1 |
107,199,603 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
2012-12-06 |
Incidental Mutation