Incidental Mutation 'R6606:Adal'
| ID |
525662 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adal
|
| Ensembl Gene |
ENSMUSG00000027259 |
| Gene Name |
adenosine deaminase-like |
| Synonyms |
4930578F03Rik |
| MMRRC Submission |
044729-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6606 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
120970909-120987161 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 120980769 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 21
(E21G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106293
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028702]
[ENSMUST00000066155]
[ENSMUST00000110662]
[ENSMUST00000110665]
[ENSMUST00000119031]
|
| AlphaFold |
Q80SY6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028702
AA Change: E97G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000028702
Gene: ENSMUSG00000027259
AA Change: E97G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:A_deaminase
|
1 |
276 |
1.8e-37 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000066155
AA Change: E164G
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000067133
Gene: ENSMUSG00000027259
AA Change: E164G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:A_deaminase
|
16 |
343 |
1.6e-36 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110662
AA Change: E21G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106290
Gene: ENSMUSG00000027259
AA Change: E21G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:A_deaminase
|
2 |
200 |
1.1e-28 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110665
AA Change: E21G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106293
Gene: ENSMUSG00000027259
AA Change: E21G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:A_deaminase
|
2 |
236 |
4.3e-24 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000119031
AA Change: E164G
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000113052
Gene: ENSMUSG00000027259
AA Change: E164G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:A_deaminase
|
16 |
343 |
3e-44 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130221
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146750
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156132
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147271
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152164
|
| Meta Mutation Damage Score |
0.7582 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.5%
|
| Validation Efficiency |
100% (35/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankk1 |
T |
C |
9: 49,327,646 (GRCm39) |
Y511C |
probably benign |
Het |
| Atn1 |
G |
A |
6: 124,721,919 (GRCm39) |
|
probably benign |
Het |
| Ccnt2 |
C |
A |
1: 127,730,978 (GRCm39) |
S618R |
probably benign |
Het |
| Ces4a |
A |
G |
8: 105,876,010 (GRCm39) |
N517S |
possibly damaging |
Het |
| Chd4 |
C |
A |
6: 125,086,389 (GRCm39) |
T963K |
probably damaging |
Het |
| Crlf1 |
A |
G |
8: 70,953,824 (GRCm39) |
Y310C |
probably damaging |
Het |
| Cyyr1 |
A |
G |
16: 85,254,438 (GRCm39) |
Y155H |
probably benign |
Het |
| Dnah3 |
A |
T |
7: 119,660,179 (GRCm39) |
I831N |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Echdc1 |
A |
G |
10: 29,189,711 (GRCm39) |
I17V |
probably benign |
Het |
| Ephx4 |
G |
T |
5: 107,560,931 (GRCm39) |
V28F |
probably damaging |
Het |
| Erich6 |
A |
G |
3: 58,523,921 (GRCm39) |
I651T |
probably damaging |
Het |
| Fbln7 |
A |
G |
2: 128,719,296 (GRCm39) |
Q31R |
possibly damaging |
Het |
| Fbxl17 |
A |
G |
17: 63,794,783 (GRCm39) |
V433A |
probably damaging |
Het |
| Gm20449 |
T |
C |
7: 41,108,253 (GRCm39) |
E39G |
unknown |
Het |
| Gprc5b |
G |
A |
7: 118,583,296 (GRCm39) |
P191L |
probably benign |
Het |
| Klhl1 |
T |
C |
14: 96,360,658 (GRCm39) |
T731A |
possibly damaging |
Het |
| Myo3b |
A |
G |
2: 70,062,829 (GRCm39) |
D371G |
possibly damaging |
Het |
| Or10n1 |
G |
A |
9: 39,525,378 (GRCm39) |
V172M |
probably damaging |
Het |
| P4ha3 |
G |
T |
7: 99,954,851 (GRCm39) |
C303F |
probably damaging |
Het |
| Parp10 |
C |
A |
15: 76,124,308 (GRCm39) |
V782L |
possibly damaging |
Het |
| Prpf40a |
A |
G |
2: 53,041,763 (GRCm39) |
S501P |
probably damaging |
Het |
| Ptpn3 |
A |
T |
4: 57,265,104 (GRCm39) |
|
probably null |
Het |
| Ptprz1 |
A |
C |
6: 23,002,500 (GRCm39) |
H1530P |
probably benign |
Het |
| Rasa4 |
A |
G |
5: 136,132,801 (GRCm39) |
K18E |
probably damaging |
Het |
| Rit1 |
A |
G |
3: 88,624,945 (GRCm39) |
E48G |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rspo3 |
C |
T |
10: 29,330,277 (GRCm39) |
R228K |
unknown |
Het |
| Scai |
A |
T |
2: 38,965,147 (GRCm39) |
S566T |
probably benign |
Het |
| Scn4a |
T |
C |
11: 106,218,899 (GRCm39) |
E973G |
probably benign |
Het |
| Slc15a3 |
T |
A |
19: 10,826,046 (GRCm39) |
F246I |
possibly damaging |
Het |
| Stfa3 |
T |
C |
16: 36,275,647 (GRCm39) |
D27G |
possibly damaging |
Het |
| Uba5 |
T |
C |
9: 103,932,420 (GRCm39) |
D181G |
probably damaging |
Het |
| Urb1 |
T |
C |
16: 90,607,156 (GRCm39) |
T25A |
probably benign |
Het |
| Zbtb43 |
G |
T |
2: 33,345,066 (GRCm39) |
S16Y |
probably damaging |
Het |
| Zyg11b |
G |
A |
4: 108,093,286 (GRCm39) |
A717V |
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 |
|
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 |
|
|
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'- AGCCTTTCTGGGATCAGTTG -3'
(R):5'- AACAGGGCTTCATTTGGTGTC -3'
Sequencing Primer
(F):5'- TCACATTGTAGCCCAGGATG -3'
(R):5'- TCTGCTGGACACAAATGCATG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation