Incidental Mutation 'R6501:Ada'
| ID |
519717 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ada
|
| Ensembl Gene |
ENSMUSG00000017697 |
| Gene Name |
adenosine deaminase |
| Synonyms |
|
| MMRRC Submission |
044633-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6501 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
163568504-163592159 bp(-) (GRCm39) |
| Type of Mutation |
splice site (2030 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 163570108 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126223
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017841]
[ENSMUST00000064703]
[ENSMUST00000099105]
[ENSMUST00000109400]
[ENSMUST00000126182]
[ENSMUST00000131228]
[ENSMUST00000135537]
[ENSMUST00000164399]
|
| AlphaFold |
P03958 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000017841
AA Change: S302P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000017841
Gene: ENSMUSG00000017697
AA Change: S302P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:A_deaminase
|
8 |
346 |
1.3e-111 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000064703
|
| SMART Domains |
Protein: ENSMUSP00000068344
Gene: ENSMUSG00000035268
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PKI
|
2 |
70 |
5e-33 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000099105
|
| SMART Domains |
Protein: ENSMUSP00000096704
Gene: ENSMUSG00000035268
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PKI
|
2 |
75 |
1.3e-33 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000109400
|
| SMART Domains |
Protein: ENSMUSP00000105027
Gene: ENSMUSG00000035268
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PKI
|
2 |
75 |
1.3e-33 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000126182
|
| SMART Domains |
Protein: ENSMUSP00000120145
Gene: ENSMUSG00000035268
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PKI
|
2 |
75 |
1.3e-33 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000131228
|
| SMART Domains |
Protein: ENSMUSP00000120355
Gene: ENSMUSG00000035268
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PKI
|
2 |
70 |
4.4e-29 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000135537
|
| SMART Domains |
Protein: ENSMUSP00000114291
Gene: ENSMUSG00000035268
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PKI
|
2 |
56 |
7.5e-28 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147385
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000164399
|
| SMART Domains |
Protein: ENSMUSP00000126223
Gene: ENSMUSG00000035268
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PKI
|
2 |
75 |
1.3e-33 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156939
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
| Validation Efficiency |
100% (48/48) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that catalyzes the hydrolysis of adenosine to inosine. Various mutations have been described for this gene and have been linked to human diseases. Deficiency in this enzyme causes a form of severe combined immunodeficiency disease (SCID), in which there is dysfunction of both B and T lymphocytes with impaired cellular immunity and decreased production of immunoglobulins, whereas elevated levels of this enzyme have been associated with congenital hemolytic anemia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene die perinatally with defective purine metabolism and severe liver cell degeneration, but lack thymic abnormalities. Replacement of placental ADA can rescue ADA-deficient fetuses, resulting in mice that are T and B-cell deficient, have elevated dATP levels, and immune deficiencies resembling human ADA deficiency. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd8 |
A |
T |
8: 71,914,165 (GRCm39) |
C154* |
probably null |
Het |
| Birc6 |
G |
A |
17: 74,886,276 (GRCm39) |
V535I |
probably damaging |
Het |
| Bptf |
T |
C |
11: 106,968,509 (GRCm39) |
N1058S |
probably null |
Het |
| Cdadc1 |
C |
T |
14: 59,823,898 (GRCm39) |
C198Y |
probably benign |
Het |
| Chrna7 |
G |
A |
7: 62,755,863 (GRCm39) |
R228C |
probably damaging |
Het |
| Cts6 |
T |
C |
13: 61,344,149 (GRCm39) |
N301S |
probably damaging |
Het |
| Cts8 |
T |
A |
13: 61,398,756 (GRCm39) |
D250V |
probably damaging |
Het |
| Cyp26a1 |
G |
T |
19: 37,687,518 (GRCm39) |
R235L |
possibly damaging |
Het |
| Disc1 |
A |
T |
8: 125,944,844 (GRCm39) |
M598L |
probably benign |
Het |
| Ear6 |
T |
A |
14: 52,091,681 (GRCm39) |
V76D |
possibly damaging |
Het |
| Grifin |
A |
G |
5: 140,549,036 (GRCm39) |
*145R |
probably null |
Het |
| Htr2b |
T |
G |
1: 86,038,363 (GRCm39) |
E11A |
probably damaging |
Het |
| Krtap4-9 |
T |
A |
11: 99,676,255 (GRCm39) |
|
probably benign |
Het |
| Larp4b |
A |
C |
13: 9,218,829 (GRCm39) |
H522P |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,363,425 (GRCm39) |
|
probably null |
Het |
| Mdfic |
T |
C |
6: 15,770,516 (GRCm39) |
L174P |
possibly damaging |
Het |
| Mmp17 |
A |
G |
5: 129,683,469 (GRCm39) |
E535G |
probably benign |
Het |
| Nfxl1 |
A |
T |
5: 72,685,852 (GRCm39) |
|
probably null |
Het |
| Nynrin |
A |
T |
14: 56,100,989 (GRCm39) |
T260S |
probably benign |
Het |
| Or4k44 |
C |
T |
2: 111,368,124 (GRCm39) |
G170D |
probably damaging |
Het |
| Or7e168 |
A |
T |
9: 19,720,271 (GRCm39) |
Y219F |
possibly damaging |
Het |
| Or8b1c |
A |
T |
9: 38,384,585 (GRCm39) |
I181F |
possibly damaging |
Het |
| Pbx1 |
G |
T |
1: 168,037,103 (GRCm39) |
D109E |
probably damaging |
Het |
| Pde4d |
A |
T |
13: 109,253,476 (GRCm39) |
H101L |
probably benign |
Het |
| Pdlim3 |
T |
C |
8: 46,361,639 (GRCm39) |
I155T |
possibly damaging |
Het |
| Plekha5 |
T |
A |
6: 140,471,655 (GRCm39) |
Y26* |
probably null |
Het |
| Prpf6 |
T |
A |
2: 181,263,713 (GRCm39) |
L191* |
probably null |
Het |
| Rabl6 |
A |
G |
2: 25,492,459 (GRCm39) |
V80A |
possibly damaging |
Het |
| Rp1 |
T |
C |
1: 4,381,503 (GRCm39) |
|
probably benign |
Het |
| Sec14l1 |
A |
G |
11: 117,047,676 (GRCm39) |
S698G |
probably damaging |
Het |
| Skic2 |
A |
G |
17: 35,063,412 (GRCm39) |
S622P |
possibly damaging |
Het |
| Slc19a1 |
G |
A |
10: 76,885,440 (GRCm39) |
G447S |
probably benign |
Het |
| Slc2a6 |
A |
T |
2: 26,913,143 (GRCm39) |
Y383* |
probably null |
Het |
| Slc9a9 |
C |
A |
9: 94,818,424 (GRCm39) |
Q273K |
probably benign |
Het |
| Spint2 |
A |
G |
7: 28,963,131 (GRCm39) |
Y56H |
probably damaging |
Het |
| Sspo |
T |
A |
6: 48,472,146 (GRCm39) |
M123K |
possibly damaging |
Het |
| Syne2 |
A |
G |
12: 76,074,621 (GRCm39) |
|
probably null |
Het |
| Trdn |
A |
C |
10: 33,342,450 (GRCm39) |
K619N |
probably benign |
Het |
| Ttll13 |
A |
G |
7: 79,899,924 (GRCm39) |
T119A |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,615,990 (GRCm39) |
Y8324C |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,728,602 (GRCm39) |
|
probably benign |
Het |
| Vav2 |
A |
G |
2: 27,186,231 (GRCm39) |
L208P |
probably damaging |
Het |
| Vmn1r179 |
A |
G |
7: 23,628,342 (GRCm39) |
I178V |
probably benign |
Het |
| Vmn1r210 |
T |
C |
13: 23,011,705 (GRCm39) |
M194V |
possibly damaging |
Het |
| Vmn2r103 |
A |
T |
17: 20,032,166 (GRCm39) |
T647S |
probably benign |
Het |
| Wdr49 |
T |
A |
3: 75,246,765 (GRCm39) |
H289L |
probably benign |
Het |
| Wnk2 |
T |
G |
13: 49,300,159 (GRCm39) |
K184Q |
probably damaging |
Het |
| Zfp758 |
A |
G |
17: 22,590,978 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ada |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01686:Ada
|
APN |
2 |
163,572,236 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02414:Ada
|
APN |
2 |
163,571,960 (GRCm39) |
missense |
probably benign |
|
|
IGL02973:Ada
|
APN |
2 |
163,573,053 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0053:Ada
|
UTSW |
2 |
163,574,212 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0076:Ada
|
UTSW |
2 |
163,569,523 (GRCm39) |
unclassified |
probably benign |
|
|
R0305:Ada
|
UTSW |
2 |
163,570,077 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0463:Ada
|
UTSW |
2 |
163,572,271 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0464:Ada
|
UTSW |
2 |
163,574,884 (GRCm39) |
nonsense |
probably null |
|
|
R0701:Ada
|
UTSW |
2 |
163,571,995 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1474:Ada
|
UTSW |
2 |
163,574,814 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4044:Ada
|
UTSW |
2 |
163,577,380 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4589:Ada
|
UTSW |
2 |
163,574,868 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5114:Ada
|
UTSW |
2 |
163,572,406 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5424:Ada
|
UTSW |
2 |
163,570,045 (GRCm39) |
nonsense |
probably null |
|
|
R5753:Ada
|
UTSW |
2 |
163,577,318 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6392:Ada
|
UTSW |
2 |
163,570,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6646:Ada
|
UTSW |
2 |
163,577,343 (GRCm39) |
missense |
probably benign |
|
|
R7651:Ada
|
UTSW |
2 |
163,574,275 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7669:Ada
|
UTSW |
2 |
163,570,111 (GRCm39) |
nonsense |
probably null |
|
|
R7803:Ada
|
UTSW |
2 |
163,577,288 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9093:Ada
|
UTSW |
2 |
163,577,308 (GRCm39) |
missense |
probably benign |
|
|
R9469:Ada
|
UTSW |
2 |
163,574,192 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9655:Ada
|
UTSW |
2 |
163,574,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Ada
|
UTSW |
2 |
163,570,036 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGGTTCTAGGCAATCTACACAC -3'
(R):5'- ATGCAACCCTTTGTGTTGTC -3'
Sequencing Primer
(F):5'- TACACACAATATATGCACTCACGTG -3'
(R):5'- CAACCCTTTGTGTTGTCTAAGG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation