Incidental Mutation 'R6424:Scgb2b19'
| ID |
518261 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scgb2b19
|
| Ensembl Gene |
ENSMUSG00000096467 |
| Gene Name |
secretoglobin, family 2B, member 19 |
| Synonyms |
Gm5894, Abpbg19 |
| MMRRC Submission |
044387-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.033)
|
| Stock # |
R6424 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
32977795-32979763 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 32978022 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 92
(S92A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136155
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000179688]
|
| AlphaFold |
J3QM75 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000179688
AA Change: S92A
PolyPhen 2
Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000136155
Gene: ENSMUSG00000096467
AA Change: S92A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
16 |
N/A |
INTRINSIC |
|
Pfam:Feld-I_B
|
24 |
90 |
2.4e-31 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,460,542 (GRCm39) |
V4184A |
probably benign |
Het |
| Acvr2b |
T |
A |
9: 119,231,645 (GRCm39) |
W12R |
probably benign |
Het |
| Arap2 |
T |
C |
5: 62,840,707 (GRCm39) |
K720E |
probably damaging |
Het |
| Cr1l |
A |
C |
1: 194,800,123 (GRCm39) |
F184V |
probably damaging |
Het |
| Haus8 |
C |
T |
8: 71,704,080 (GRCm39) |
W359* |
probably null |
Het |
| Insm2 |
A |
T |
12: 55,646,867 (GRCm39) |
I204F |
probably damaging |
Het |
| Katnb1 |
T |
A |
8: 95,820,144 (GRCm39) |
I97N |
probably damaging |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Map2 |
A |
T |
1: 66,453,946 (GRCm39) |
K945N |
possibly damaging |
Het |
| Meltf |
T |
A |
16: 31,699,080 (GRCm39) |
C63* |
probably null |
Het |
| Nbas |
T |
C |
12: 13,465,734 (GRCm39) |
|
probably null |
Het |
| Or5p1 |
G |
A |
7: 107,916,412 (GRCm39) |
V104I |
probably benign |
Het |
| Raf1 |
T |
C |
6: 115,596,542 (GRCm39) |
E594G |
probably benign |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Serpinb3c |
T |
A |
1: 107,199,359 (GRCm39) |
*387Y |
probably null |
Het |
| Shpk |
A |
T |
11: 73,104,318 (GRCm39) |
I156F |
possibly damaging |
Het |
| Smarcd1 |
T |
C |
15: 99,602,248 (GRCm39) |
F128L |
probably damaging |
Het |
| Tars3 |
G |
A |
7: 65,305,487 (GRCm39) |
G237E |
probably damaging |
Het |
| Thap1 |
CAGCATCTGCTCGGAGCA |
CAGCA |
8: 26,650,884 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,719,848 (GRCm39) |
|
probably benign |
Het |
| Vmn1r223 |
T |
A |
13: 23,434,345 (GRCm39) |
I313N |
probably damaging |
Het |
|
| Other mutations in Scgb2b19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01653:Scgb2b19
|
APN |
7 |
32,979,153 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4515001:Scgb2b19
|
UTSW |
7 |
32,979,036 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0580:Scgb2b19
|
UTSW |
7 |
32,977,995 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1437:Scgb2b19
|
UTSW |
7 |
32,977,980 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1445:Scgb2b19
|
UTSW |
7 |
32,979,037 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5332:Scgb2b19
|
UTSW |
7 |
32,978,006 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7102:Scgb2b19
|
UTSW |
7 |
32,979,711 (GRCm39) |
missense |
probably null |
|
|
R7576:Scgb2b19
|
UTSW |
7 |
32,979,211 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9551:Scgb2b19
|
UTSW |
7 |
32,979,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9552:Scgb2b19
|
UTSW |
7 |
32,979,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9561:Scgb2b19
|
UTSW |
7 |
32,978,039 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGAACAGTATCAGGAATCCAACTTC -3'
(R):5'- ATAGTGGTTTTCAGGCTGCC -3'
Sequencing Primer
(F):5'- TATCAGGAATCCAACTTCAGGAG -3'
(R):5'- CCAGTTCCCTTGAGGCAGAATTTG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation