Incidental Mutation 'R1376:Adal'
| ID |
162873 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adal
|
| Ensembl Gene |
ENSMUSG00000027259 |
| Gene Name |
adenosine deaminase-like |
| Synonyms |
4930578F03Rik |
| MMRRC Submission |
039440-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1376 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
120970909-120987161 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 120983011 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 177
(D177G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028702
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028702]
[ENSMUST00000066155]
[ENSMUST00000110662]
[ENSMUST00000110665]
[ENSMUST00000119031]
|
| AlphaFold |
Q80SY6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028702
AA Change: D177G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028702
Gene: ENSMUSG00000027259
AA Change: D177G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:A_deaminase
|
1 |
276 |
1.8e-37 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066155
AA Change: D244G
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000067133
Gene: ENSMUSG00000027259
AA Change: D244G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:A_deaminase
|
16 |
343 |
1.6e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110662
AA Change: D101G
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000106290
Gene: ENSMUSG00000027259
AA Change: D101G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:A_deaminase
|
2 |
200 |
1.1e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110665
AA Change: D101G
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000106293
Gene: ENSMUSG00000027259
AA Change: D101G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:A_deaminase
|
2 |
236 |
4.3e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119031
AA Change: D244G
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000113052
Gene: ENSMUSG00000027259
AA Change: D244G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:A_deaminase
|
16 |
343 |
3e-44 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147271
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152164
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156132
|
| Meta Mutation Damage Score |
0.0943 |
| Coding Region Coverage |
- 1x: 98.4%
- 3x: 96.7%
- 10x: 90.4%
- 20x: 75.5%
|
| Validation Efficiency |
100% (3/3) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730455P16Rik |
A |
T |
11: 80,254,735 (GRCm39) |
I362N |
possibly damaging |
Het |
| 9130023H24Rik |
A |
G |
7: 127,836,182 (GRCm39) |
V137A |
probably benign |
Het |
| Cdcp2 |
G |
T |
4: 106,959,956 (GRCm39) |
V124F |
possibly damaging |
Het |
| Ceacam3 |
T |
C |
7: 16,897,088 (GRCm39) |
C685R |
probably damaging |
Het |
| Cfd |
T |
C |
10: 79,727,986 (GRCm39) |
I174T |
possibly damaging |
Het |
| Dapk2 |
C |
G |
9: 66,127,925 (GRCm39) |
R68G |
probably damaging |
Het |
| Ehd1 |
C |
T |
19: 6,344,418 (GRCm39) |
T226M |
probably damaging |
Het |
| Elp5 |
A |
G |
11: 69,865,916 (GRCm39) |
V120A |
probably benign |
Het |
| Fzd1 |
G |
A |
5: 4,807,174 (GRCm39) |
T136M |
possibly damaging |
Het |
| Galntl5 |
G |
T |
5: 25,391,286 (GRCm39) |
V62F |
probably benign |
Het |
| Josd2 |
C |
A |
7: 44,120,539 (GRCm39) |
P50H |
probably damaging |
Het |
| Lect2 |
T |
A |
13: 56,690,577 (GRCm39) |
I133F |
probably damaging |
Het |
| Lifr |
A |
G |
15: 7,214,245 (GRCm39) |
T700A |
probably benign |
Het |
| Lpl |
T |
C |
8: 69,340,250 (GRCm39) |
W82R |
probably damaging |
Het |
| Man2a1 |
C |
T |
17: 64,979,038 (GRCm39) |
R523C |
possibly damaging |
Het |
| Mast4 |
T |
C |
13: 102,872,916 (GRCm39) |
K1959E |
possibly damaging |
Het |
| Minar1 |
T |
C |
9: 89,473,299 (GRCm39) |
T871A |
probably damaging |
Het |
| Or10ag57 |
A |
G |
2: 87,218,162 (GRCm39) |
M38V |
probably benign |
Het |
| Or10ag58 |
C |
T |
2: 87,264,903 (GRCm39) |
S24L |
possibly damaging |
Het |
| Pde4dip |
A |
G |
3: 97,650,533 (GRCm39) |
V963A |
probably damaging |
Het |
| Pdgfd |
A |
G |
9: 6,376,994 (GRCm39) |
I357V |
probably benign |
Het |
| Pold1 |
T |
C |
7: 44,189,986 (GRCm39) |
D400G |
probably damaging |
Het |
| Ppp1r12a |
T |
C |
10: 108,034,779 (GRCm39) |
I108T |
probably damaging |
Het |
| Rimbp2 |
G |
C |
5: 128,847,355 (GRCm39) |
P931A |
possibly damaging |
Het |
| Rsf1 |
GCG |
GCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Sf3b1 |
A |
T |
1: 55,058,424 (GRCm39) |
V55E |
probably damaging |
Het |
| Sult2a2 |
T |
C |
7: 13,468,696 (GRCm39) |
V54A |
probably damaging |
Het |
| Taf2 |
GCTTCTTCTTCTTCTTCTT |
GCTTCTTCTTCTTCTT |
15: 54,879,857 (GRCm39) |
|
probably benign |
Het |
| Taok3 |
T |
C |
5: 117,404,026 (GRCm39) |
Y734H |
probably damaging |
Het |
| Tasor |
A |
G |
14: 27,151,338 (GRCm39) |
K105E |
probably benign |
Het |
| Tuba3b |
A |
G |
6: 145,564,500 (GRCm39) |
E90G |
possibly damaging |
Het |
| Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Adal |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00815:Adal
|
APN |
2 |
120,981,699 (GRCm39) |
splice site |
probably benign |
|
|
IGL01917:Adal
|
APN |
2 |
120,973,035 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02487:Adal
|
APN |
2 |
120,985,877 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0004:Adal
|
UTSW |
2 |
120,982,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0234:Adal
|
UTSW |
2 |
120,978,798 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0234:Adal
|
UTSW |
2 |
120,978,798 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1376:Adal
|
UTSW |
2 |
120,983,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4989:Adal
|
UTSW |
2 |
120,986,030 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6532:Adal
|
UTSW |
2 |
120,976,604 (GRCm39) |
splice site |
probably null |
|
|
R6606:Adal
|
UTSW |
2 |
120,980,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6750:Adal
|
UTSW |
2 |
120,973,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6819:Adal
|
UTSW |
2 |
120,978,794 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7035:Adal
|
UTSW |
2 |
120,985,942 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8210:Adal
|
UTSW |
2 |
120,985,236 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9373:Adal
|
UTSW |
2 |
120,980,703 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9446:Adal
|
UTSW |
2 |
120,976,530 (GRCm39) |
missense |
probably null |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTGGTTACCAGCAGAGGCCAC -3'
(R):5'- CAGTCAGTACGATGAACACAGGGAC -3'
Sequencing Primer
(F):5'- AGCAGAGGCCACTGATCC -3'
(R):5'- gaaaaagagagagggagaaaaagag -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation