Incidental Mutation 'R5002:Slc29a4'
| ID |
389987 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc29a4
|
| Ensembl Gene |
ENSMUSG00000050822 |
| Gene Name |
solute carrier family 29 (nucleoside transporters), member 4 |
| Synonyms |
ENT4, mPMAT |
| MMRRC Submission |
042596-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5002 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
142678267-142708245 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 142704501 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 348
(I348F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059896
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058418]
|
| AlphaFold |
Q8R139 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058418
AA Change: I348F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000059896
Gene: ENSMUSG00000050822
AA Change: I348F
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
67 |
89 |
N/A |
INTRINSIC |
|
transmembrane domain
|
104 |
126 |
N/A |
INTRINSIC |
|
transmembrane domain
|
138 |
160 |
N/A |
INTRINSIC |
|
Pfam:Nucleoside_tran
|
170 |
501 |
2e-51 |
PFAM |
|
| Meta Mutation Damage Score |
0.9131 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.7%
|
| Validation Efficiency |
94% (44/47) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SLC29A/ENT transporter protein family. The encoded membrane protein catalyzes the reuptake of monoamines into presynaptic neurons, thus determining the intensity and duration of monoamine neural signaling. It has been shown to transport several compounds, including serotonin, dopamine, and the neurotoxin 1-methyl-4-phenylpyridinium. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired organic cation and monoamine uptake in the choroid plexus. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
G |
A |
11: 109,852,623 (GRCm39) |
P736S |
probably damaging |
Het |
| Apbb2 |
A |
G |
5: 66,470,668 (GRCm39) |
I523T |
possibly damaging |
Het |
| Casq1 |
T |
A |
1: 172,040,945 (GRCm39) |
D281V |
possibly damaging |
Het |
| Catsperb |
T |
C |
12: 101,486,813 (GRCm39) |
F447L |
probably benign |
Het |
| Cenpe |
A |
T |
3: 134,952,842 (GRCm39) |
M1511L |
probably benign |
Het |
| Cep128 |
T |
C |
12: 91,222,497 (GRCm39) |
|
probably null |
Het |
| Col6a6 |
T |
C |
9: 105,663,292 (GRCm39) |
T82A |
probably benign |
Het |
| Dna2 |
A |
G |
10: 62,786,621 (GRCm39) |
D123G |
probably damaging |
Het |
| Ergic2 |
A |
G |
6: 148,085,656 (GRCm39) |
I281T |
probably benign |
Het |
| Fcgbp |
T |
A |
7: 27,785,528 (GRCm39) |
|
probably null |
Het |
| Filip1l |
T |
C |
16: 57,391,466 (GRCm39) |
Y447H |
probably benign |
Het |
| Flnb |
T |
A |
14: 7,945,882 (GRCm38) |
M2429K |
probably damaging |
Het |
| Fn1 |
T |
A |
1: 71,668,887 (GRCm39) |
Q686L |
possibly damaging |
Het |
| Gm10644 |
T |
C |
8: 84,660,216 (GRCm39) |
D43G |
possibly damaging |
Het |
| Gm10717 |
A |
G |
9: 3,025,532 (GRCm39) |
Y39C |
probably benign |
Het |
| Gpx6 |
A |
G |
13: 21,497,858 (GRCm39) |
Y43C |
probably damaging |
Het |
| Hhat |
A |
T |
1: 192,225,498 (GRCm39) |
F494I |
probably benign |
Het |
| Itga9 |
C |
A |
9: 118,492,966 (GRCm39) |
S287* |
probably null |
Het |
| Lrrk1 |
C |
A |
7: 65,982,111 (GRCm39) |
G177W |
probably damaging |
Het |
| Ltbp4 |
GT |
G |
7: 27,027,110 (GRCm39) |
|
probably null |
Het |
| Ms4a14 |
T |
C |
19: 11,281,653 (GRCm39) |
I302V |
probably benign |
Het |
| Nepn |
A |
C |
10: 52,267,850 (GRCm39) |
M39L |
probably benign |
Het |
| Nfil3 |
C |
A |
13: 53,122,712 (GRCm39) |
R64L |
probably damaging |
Het |
| Ociad1 |
T |
C |
5: 73,467,659 (GRCm39) |
V199A |
possibly damaging |
Het |
| Or2r3 |
C |
A |
6: 42,448,906 (GRCm39) |
V69L |
probably benign |
Het |
| Or8k3b |
C |
A |
2: 86,520,429 (GRCm39) |
V297L |
possibly damaging |
Het |
| Polk |
A |
G |
13: 96,625,752 (GRCm39) |
Y431H |
probably damaging |
Het |
| Prss33 |
C |
T |
17: 24,054,332 (GRCm39) |
|
probably benign |
Het |
| Semp2l2b |
G |
C |
10: 21,943,716 (GRCm39) |
P88R |
probably damaging |
Het |
| Slc12a7 |
A |
G |
13: 73,911,896 (GRCm39) |
N4S |
possibly damaging |
Het |
| Smarce1 |
T |
C |
11: 99,115,889 (GRCm39) |
N44S |
probably damaging |
Het |
| Spast |
C |
T |
17: 74,676,221 (GRCm39) |
Q344* |
probably null |
Het |
| Stk11ip |
C |
A |
1: 75,509,187 (GRCm39) |
|
probably benign |
Het |
| Tas2r131 |
T |
C |
6: 132,934,114 (GRCm39) |
I232V |
probably benign |
Het |
| Tesk1 |
T |
C |
4: 43,444,573 (GRCm39) |
Y126H |
probably damaging |
Het |
| Tmpo |
A |
G |
10: 90,999,976 (GRCm39) |
V164A |
possibly damaging |
Het |
| Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
| Vwc2l |
T |
G |
1: 70,768,205 (GRCm39) |
C43G |
probably damaging |
Het |
| Wnk1 |
G |
A |
6: 119,914,924 (GRCm39) |
T1626I |
probably benign |
Het |
| Zpld2 |
T |
A |
4: 133,924,231 (GRCm39) |
N438I |
probably benign |
Het |
|
| Other mutations in Slc29a4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01317:Slc29a4
|
APN |
5 |
142,691,285 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01717:Slc29a4
|
APN |
5 |
142,704,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02184:Slc29a4
|
APN |
5 |
142,703,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02207:Slc29a4
|
APN |
5 |
142,704,640 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL02210:Slc29a4
|
APN |
5 |
142,704,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02323:Slc29a4
|
APN |
5 |
142,703,407 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02381:Slc29a4
|
APN |
5 |
142,705,854 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL03103:Slc29a4
|
APN |
5 |
142,697,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03210:Slc29a4
|
APN |
5 |
142,700,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0131:Slc29a4
|
UTSW |
5 |
142,691,285 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0131:Slc29a4
|
UTSW |
5 |
142,691,285 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0132:Slc29a4
|
UTSW |
5 |
142,691,285 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0850:Slc29a4
|
UTSW |
5 |
142,704,327 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1777:Slc29a4
|
UTSW |
5 |
142,699,817 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1864:Slc29a4
|
UTSW |
5 |
142,703,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1870:Slc29a4
|
UTSW |
5 |
142,707,243 (GRCm39) |
makesense |
probably null |
|
|
R1871:Slc29a4
|
UTSW |
5 |
142,707,243 (GRCm39) |
makesense |
probably null |
|
|
R2092:Slc29a4
|
UTSW |
5 |
142,704,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2196:Slc29a4
|
UTSW |
5 |
142,698,650 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4716:Slc29a4
|
UTSW |
5 |
142,704,327 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5162:Slc29a4
|
UTSW |
5 |
142,707,207 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5235:Slc29a4
|
UTSW |
5 |
142,704,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5553:Slc29a4
|
UTSW |
5 |
142,705,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5642:Slc29a4
|
UTSW |
5 |
142,697,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5688:Slc29a4
|
UTSW |
5 |
142,699,853 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5930:Slc29a4
|
UTSW |
5 |
142,707,157 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5944:Slc29a4
|
UTSW |
5 |
142,704,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6056:Slc29a4
|
UTSW |
5 |
142,705,832 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6409:Slc29a4
|
UTSW |
5 |
142,697,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6934:Slc29a4
|
UTSW |
5 |
142,698,713 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7508:Slc29a4
|
UTSW |
5 |
142,704,261 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7509:Slc29a4
|
UTSW |
5 |
142,704,261 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7716:Slc29a4
|
UTSW |
5 |
142,704,261 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7910:Slc29a4
|
UTSW |
5 |
142,691,156 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8351:Slc29a4
|
UTSW |
5 |
142,703,584 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8408:Slc29a4
|
UTSW |
5 |
142,691,109 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8411:Slc29a4
|
UTSW |
5 |
142,705,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8749:Slc29a4
|
UTSW |
5 |
142,700,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8861:Slc29a4
|
UTSW |
5 |
142,704,580 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9236:Slc29a4
|
UTSW |
5 |
142,698,702 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9498:Slc29a4
|
UTSW |
5 |
142,704,233 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGCGTTTTGATGTGCCC -3'
(R):5'- AAGACCAGAGCCTTACTAGGG -3'
Sequencing Primer
(F):5'- CCACGAGTCAAACGAAGCTGG -3'
(R):5'- GTTCCCCAAAGCCACCCTG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation