Incidental Mutation 'R1266:Defa22'
ID |
151168 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Defa22
|
Ensembl Gene |
ENSMUSG00000074443 |
Gene Name |
defensin, alpha, 22 |
Synonyms |
Defcr22 |
MMRRC Submission |
039333-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.046)
|
Stock # |
R1266 (G1)
|
Quality Score |
91 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
21652293-21653265 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 21652384 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Phenylalanine
at position 17
(V17F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096496
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098897]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000098897
AA Change: V17F
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000096496 Gene: ENSMUSG00000074443 AA Change: V17F
Domain | Start | End | E-Value | Type |
Pfam:Defensin_propep
|
1 |
51 |
4.1e-26 |
PFAM |
DEFSN
|
64 |
89 |
1.46e-3 |
SMART |
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 18 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apob |
C |
A |
12: 8,056,093 (GRCm39) |
T1492N |
probably benign |
Het |
Brix1 |
T |
C |
15: 10,478,847 (GRCm39) |
T191A |
probably damaging |
Het |
C1qc |
A |
G |
4: 136,617,668 (GRCm39) |
S143P |
possibly damaging |
Het |
Crim1 |
GGCTGCTGCTGCTGCTG |
GGCTGCTGCTGCTG |
17: 78,508,262 (GRCm39) |
|
probably benign |
Het |
Fer1l4 |
T |
A |
2: 155,888,169 (GRCm39) |
T439S |
possibly damaging |
Het |
Flt3 |
A |
G |
5: 147,293,670 (GRCm39) |
S469P |
probably benign |
Het |
Krtap19-9b |
A |
T |
16: 88,728,940 (GRCm39) |
S54T |
unknown |
Het |
Ncor1 |
T |
C |
11: 62,224,866 (GRCm39) |
D798G |
probably damaging |
Het |
Oosp1 |
T |
C |
19: 11,645,163 (GRCm39) |
H167R |
possibly damaging |
Het |
Or5d16 |
A |
T |
2: 87,773,877 (GRCm39) |
L32M |
probably benign |
Het |
Poln |
A |
T |
5: 34,290,453 (GRCm39) |
|
probably null |
Het |
Primpol |
A |
T |
8: 47,046,734 (GRCm39) |
N187K |
probably damaging |
Het |
Prr12 |
A |
G |
7: 44,699,677 (GRCm39) |
|
probably benign |
Het |
Setd1b |
A |
G |
5: 123,285,904 (GRCm39) |
T317A |
unknown |
Het |
Sgo2b |
G |
A |
8: 64,381,455 (GRCm39) |
T459M |
probably benign |
Het |
Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
Zfp455 |
C |
T |
13: 67,355,028 (GRCm39) |
R99* |
probably null |
Het |
|
Other mutations in Defa22 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01107:Defa22
|
APN |
8 |
21,653,053 (GRCm39) |
splice site |
probably null |
|
IGL01154:Defa22
|
APN |
8 |
21,653,053 (GRCm39) |
splice site |
probably null |
|
IGL01155:Defa22
|
APN |
8 |
21,653,053 (GRCm39) |
splice site |
probably null |
|
IGL02142:Defa22
|
APN |
8 |
21,653,130 (GRCm39) |
missense |
possibly damaging |
0.93 |
P0047:Defa22
|
UTSW |
8 |
21,653,102 (GRCm39) |
nonsense |
probably null |
|
PIT4696001:Defa22
|
UTSW |
8 |
21,652,352 (GRCm39) |
missense |
probably damaging |
0.99 |
R0738:Defa22
|
UTSW |
8 |
21,652,391 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCCAGTTCCCATCAAAGAGTGCC -3'
(R):5'- CAGCCTTCAGCATGGACATTTCAAC -3'
Sequencing Primer
(F):5'- CAAAGAGTGCCTTCTCTAAGTGTG -3'
(R):5'- TAGAGTTGCCTTAGGAACCAC -3'
|
Posted On |
2014-01-29 |