Incidental Mutation 'IGL01825:Scgb2b24'
| ID |
154659 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Scgb2b24
|
| Ensembl Gene |
ENSMUSG00000046438 |
| Gene Name |
secretoglobin, family 2B, member 24 |
| Synonyms |
Abpz, Abpbg24, C2b, Scgb2b3 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
IGL01825
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
33436618-33438720 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 33438652 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 20
(T20K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052456
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055444]
[ENSMUST00000108087]
|
| AlphaFold |
Q7M747 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055444
AA Change: T20K
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000052456
Gene: ENSMUSG00000046438
AA Change: T20K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
11 |
N/A |
INTRINSIC |
|
Pfam:Feld-I_B
|
24 |
90 |
5.9e-33 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108087
|
| SMART Domains |
Protein: ENSMUSP00000103722
Gene: ENSMUSG00000078753
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
UTG
|
23 |
92 |
4.95e-15 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam30 |
A |
G |
3: 98,069,217 (GRCm39) |
E222G |
probably damaging |
Het |
| Aftph |
T |
A |
11: 20,676,569 (GRCm39) |
I347F |
possibly damaging |
Het |
| Braf |
T |
C |
6: 39,616,524 (GRCm39) |
D549G |
probably damaging |
Het |
| Cnbd2 |
T |
A |
2: 156,180,629 (GRCm39) |
L142Q |
probably damaging |
Het |
| Ctbp1 |
C |
T |
5: 33,416,477 (GRCm39) |
|
probably null |
Het |
| Cuta |
T |
C |
17: 27,157,438 (GRCm39) |
I98V |
probably benign |
Het |
| Dip2a |
A |
T |
10: 76,108,514 (GRCm39) |
C1226* |
probably null |
Het |
| Dnah6 |
T |
C |
6: 73,042,759 (GRCm39) |
E3221G |
probably damaging |
Het |
| Grm3 |
A |
G |
5: 9,561,600 (GRCm39) |
L750P |
probably damaging |
Het |
| Herc1 |
T |
C |
9: 66,307,089 (GRCm39) |
Y970H |
probably benign |
Het |
| Hnrnpr |
T |
A |
4: 136,066,850 (GRCm39) |
Y470* |
probably null |
Het |
| Kmt2c |
T |
A |
5: 25,515,594 (GRCm39) |
I2750F |
probably damaging |
Het |
| Lrig3 |
A |
T |
10: 125,845,886 (GRCm39) |
T772S |
probably damaging |
Het |
| Mthfd2 |
T |
C |
6: 83,287,493 (GRCm39) |
T191A |
probably benign |
Het |
| Or5p78 |
C |
A |
7: 108,212,261 (GRCm39) |
T249K |
probably damaging |
Het |
| Pfkp |
A |
T |
13: 6,671,014 (GRCm39) |
N175K |
probably damaging |
Het |
| Plcz1 |
T |
C |
6: 139,949,642 (GRCm39) |
D451G |
probably benign |
Het |
| Plxna2 |
T |
A |
1: 194,471,210 (GRCm39) |
C994S |
probably damaging |
Het |
| Ptdss1 |
T |
C |
13: 67,135,886 (GRCm39) |
I381T |
probably benign |
Het |
| Slc23a1 |
A |
T |
18: 35,757,256 (GRCm39) |
W272R |
probably damaging |
Het |
| Tcf20 |
G |
A |
15: 82,737,167 (GRCm39) |
T1428I |
probably benign |
Het |
| Tnfsf9 |
A |
G |
17: 57,414,335 (GRCm39) |
D254G |
possibly damaging |
Het |
| Ttc4 |
C |
T |
4: 106,528,816 (GRCm39) |
|
probably null |
Het |
| Xdh |
A |
G |
17: 74,198,240 (GRCm39) |
Y1216H |
probably damaging |
Het |
| Zbtb21 |
G |
T |
16: 97,753,889 (GRCm39) |
N159K |
possibly damaging |
Het |
|
| Other mutations in Scgb2b24 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02328:Scgb2b24
|
APN |
7 |
33,438,050 (GRCm39) |
splice site |
probably benign |
|
|
PIT4618001:Scgb2b24
|
UTSW |
7 |
33,438,036 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3441:Scgb2b24
|
UTSW |
7 |
33,438,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5874:Scgb2b24
|
UTSW |
7 |
33,436,830 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6572:Scgb2b24
|
UTSW |
7 |
33,437,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6800:Scgb2b24
|
UTSW |
7 |
33,437,894 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7431:Scgb2b24
|
UTSW |
7 |
33,438,674 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8096:Scgb2b24
|
UTSW |
7 |
33,438,646 (GRCm39) |
splice site |
probably null |
|
|
R8458:Scgb2b24
|
UTSW |
7 |
33,436,779 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9481:Scgb2b24
|
UTSW |
7 |
33,436,795 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Posted On |
2014-02-04 |
Incidental Mutation