Incidental Mutation 'IGL01072:Scgb1b24'
| ID |
51453 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Scgb1b24
|
| Ensembl Gene |
ENSMUSG00000078753 |
| Gene Name |
secretoglobin, family 1B, member 24 |
| Synonyms |
Abpa24, Gm12769 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
IGL01072
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
33443224-33444407 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 33443434 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 31
(D31V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103722
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055444]
[ENSMUST00000108087]
|
| AlphaFold |
B1B0N6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055444
|
| SMART Domains |
Protein: ENSMUSP00000052456
Gene: ENSMUSG00000046438
| 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 damaging
Transcript: ENSMUST00000108087
AA Change: D31V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103722
Gene: ENSMUSG00000078753
AA Change: D31V
| 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: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccdc65 |
A |
T |
15: 98,606,277 (GRCm39) |
M1L |
unknown |
Het |
| Cyp3a44 |
T |
C |
5: 145,728,438 (GRCm39) |
D262G |
probably benign |
Het |
| Dmbt1 |
C |
T |
7: 130,687,098 (GRCm39) |
|
probably benign |
Het |
| Dnmt3l |
A |
G |
10: 77,888,605 (GRCm39) |
N169S |
probably benign |
Het |
| Fbxw26 |
A |
T |
9: 109,552,905 (GRCm39) |
F290I |
probably damaging |
Het |
| Foxj3 |
A |
G |
4: 119,467,226 (GRCm39) |
M190V |
probably benign |
Het |
| Gm7275 |
T |
C |
16: 47,894,519 (GRCm39) |
|
noncoding transcript |
Het |
| Ly75 |
T |
A |
2: 60,184,840 (GRCm39) |
D438V |
probably damaging |
Het |
| Lzts3 |
T |
C |
2: 130,477,365 (GRCm39) |
E475G |
probably damaging |
Het |
| Mon2 |
A |
T |
10: 122,846,444 (GRCm39) |
Y1375* |
probably null |
Het |
| Ndufc2 |
T |
A |
7: 97,049,490 (GRCm39) |
V32D |
probably damaging |
Het |
| Nf2 |
A |
C |
11: 4,739,713 (GRCm39) |
L431R |
probably null |
Het |
| Niban2 |
T |
C |
2: 32,802,427 (GRCm39) |
|
probably benign |
Het |
| Ptpn9 |
C |
T |
9: 56,943,987 (GRCm39) |
T287I |
possibly damaging |
Het |
| Rictor |
A |
G |
15: 6,819,043 (GRCm39) |
D1422G |
probably damaging |
Het |
| Rpp40 |
C |
A |
13: 36,086,017 (GRCm39) |
G115C |
probably damaging |
Het |
| Rps6ka5 |
A |
G |
12: 100,540,157 (GRCm39) |
V522A |
probably benign |
Het |
| Trrap |
C |
A |
5: 144,721,065 (GRCm39) |
|
probably benign |
Het |
| Vmn1r214 |
T |
C |
13: 23,219,300 (GRCm39) |
Y265H |
possibly damaging |
Het |
|
| Other mutations in Scgb1b24 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01906:Scgb1b24
|
APN |
7 |
33,443,538 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02268:Scgb1b24
|
APN |
7 |
33,444,388 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0268:Scgb1b24
|
UTSW |
7 |
33,443,278 (GRCm39) |
missense |
probably null |
1.00 |
|
R1869:Scgb1b24
|
UTSW |
7 |
33,443,469 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5229:Scgb1b24
|
UTSW |
7 |
33,443,520 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6292:Scgb1b24
|
UTSW |
7 |
33,443,577 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7444:Scgb1b24
|
UTSW |
7 |
33,443,566 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9428:Scgb1b24
|
UTSW |
7 |
33,443,493 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2013-06-21 |
Incidental Mutation