Incidental Mutation 'R7963:Slc28a3'
| ID |
650233 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc28a3
|
| Ensembl Gene |
ENSMUSG00000021553 |
| Gene Name |
solute carrier family 28 (sodium-coupled nucleoside transporter), member 3 |
| Synonyms |
Cnt3 |
| MMRRC Submission |
046006-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7963 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
58701121-58758691 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 58724580 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 225
(Y225H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022036
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022036]
[ENSMUST00000148396]
|
| AlphaFold |
Q9ERH8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022036
AA Change: Y225H
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000022036
Gene: ENSMUSG00000021553
AA Change: Y225H
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
119 |
141 |
N/A |
INTRINSIC |
|
transmembrane domain
|
146 |
163 |
N/A |
INTRINSIC |
|
transmembrane domain
|
184 |
206 |
N/A |
INTRINSIC |
|
Pfam:Nucleos_tra2_N
|
221 |
292 |
3.5e-27 |
PFAM |
|
Pfam:Gate
|
300 |
401 |
4.9e-11 |
PFAM |
|
Pfam:Nucleos_tra2_C
|
403 |
627 |
4.1e-83 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148396
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nucleoside transporters, such as SLC28A3, regulate multiple cellular processes, including neurotransmission, vascular tone, adenosine concentration in the vicinity of cell surface receptors, and transport and metabolism of nucleoside drugs. SLC28A3 shows broad specificity for pyrimidine and purine nucleosides (Ritzel et al., 2001 [PubMed 11032837]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
A |
G |
13: 77,340,673 (GRCm39) |
K101E |
probably benign |
Het |
| 4930407I10Rik |
A |
G |
15: 81,948,137 (GRCm39) |
K678R |
possibly damaging |
Het |
| Akr1b10 |
G |
C |
6: 34,364,643 (GRCm39) |
A35P |
possibly damaging |
Het |
| Arhgef10l |
T |
C |
4: 140,306,736 (GRCm39) |
E106G |
probably damaging |
Het |
| Atp9a |
T |
C |
2: 168,516,732 (GRCm39) |
Y445C |
probably damaging |
Het |
| Btbd18 |
T |
C |
2: 84,498,239 (GRCm39) |
S626P |
probably benign |
Het |
| Cdh23 |
A |
T |
10: 60,171,967 (GRCm39) |
N1738K |
probably damaging |
Het |
| Cdv3 |
T |
C |
9: 103,241,210 (GRCm39) |
D119G |
probably damaging |
Het |
| Cep295 |
A |
G |
9: 15,244,737 (GRCm39) |
F1240L |
possibly damaging |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
| Ctsr |
C |
A |
13: 61,310,276 (GRCm39) |
V127L |
probably damaging |
Het |
| Dlg1 |
G |
A |
16: 31,609,119 (GRCm39) |
R271Q |
probably null |
Het |
| Dnaaf11 |
A |
T |
15: 66,252,366 (GRCm39) |
D433E |
probably damaging |
Het |
| Dnajc1 |
G |
A |
2: 18,227,535 (GRCm39) |
T377I |
possibly damaging |
Het |
| F2rl3 |
T |
C |
8: 73,489,333 (GRCm39) |
Y187H |
probably damaging |
Het |
| Fgf1 |
A |
T |
18: 38,980,167 (GRCm39) |
V69E |
probably damaging |
Het |
| Garem1 |
T |
C |
18: 21,281,844 (GRCm39) |
K171E |
probably damaging |
Het |
| H3c13 |
C |
A |
3: 96,176,309 (GRCm39) |
Y100* |
probably null |
Het |
| Il2ra |
G |
A |
2: 11,679,235 (GRCm39) |
R65H |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 40,817,947 (GRCm39) |
I2428V |
|
Het |
| Lrp3 |
G |
A |
7: 34,902,404 (GRCm39) |
Q579* |
probably null |
Het |
| Ncoa6 |
G |
A |
2: 155,247,916 (GRCm39) |
T1796I |
probably benign |
Het |
| Ncor1 |
T |
C |
11: 62,225,359 (GRCm39) |
I747V |
probably benign |
Het |
| Nfkb2 |
C |
T |
19: 46,298,358 (GRCm39) |
T554M |
possibly damaging |
Het |
| Nrde2 |
T |
C |
12: 100,116,127 (GRCm39) |
D119G |
probably damaging |
Het |
| Odf2 |
C |
A |
2: 29,816,112 (GRCm39) |
Q720K |
probably benign |
Het |
| Or4c52 |
T |
C |
2: 89,846,003 (GRCm39) |
V243A |
possibly damaging |
Het |
| Or4k41 |
T |
A |
2: 111,279,971 (GRCm39) |
L162Q |
possibly damaging |
Het |
| Or5w1b |
C |
T |
2: 87,475,769 (GRCm39) |
E233K |
probably benign |
Het |
| Or8k33 |
T |
C |
2: 86,383,639 (GRCm39) |
I276M |
possibly damaging |
Het |
| Pcx |
T |
C |
19: 4,652,034 (GRCm39) |
V94A |
probably damaging |
Het |
| Pdxdc1 |
A |
T |
16: 13,694,030 (GRCm39) |
Y131N |
possibly damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Plod2 |
A |
G |
9: 92,487,499 (GRCm39) |
H606R |
probably benign |
Het |
| Ptp4a2 |
A |
G |
4: 129,733,237 (GRCm39) |
|
probably benign |
Het |
| Rsl1 |
A |
G |
13: 67,330,173 (GRCm39) |
E207G |
probably damaging |
Het |
| Spag17 |
T |
A |
3: 99,929,954 (GRCm39) |
M551K |
probably benign |
Het |
| Ssh2 |
C |
A |
11: 77,312,182 (GRCm39) |
A231D |
possibly damaging |
Het |
| Stab2 |
A |
G |
10: 86,683,887 (GRCm39) |
|
probably null |
Het |
| Stac2 |
T |
C |
11: 97,932,403 (GRCm39) |
T197A |
probably benign |
Het |
| Syne2 |
T |
A |
12: 76,067,174 (GRCm39) |
L4291Q |
probably benign |
Het |
| Vmn2r38 |
A |
T |
7: 9,095,854 (GRCm39) |
D179E |
probably benign |
Het |
| Zfp597 |
T |
C |
16: 3,689,022 (GRCm39) |
D51G |
probably benign |
Het |
| Zfp64 |
A |
T |
2: 168,793,538 (GRCm39) |
F69L |
probably benign |
Het |
|
| Other mutations in Slc28a3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00420:Slc28a3
|
APN |
13 |
58,722,114 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL00432:Slc28a3
|
APN |
13 |
58,717,225 (GRCm39) |
splice site |
probably null |
|
|
IGL00553:Slc28a3
|
APN |
13 |
58,710,823 (GRCm39) |
splice site |
probably null |
|
|
IGL01725:Slc28a3
|
APN |
13 |
58,726,324 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL02068:Slc28a3
|
APN |
13 |
58,706,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02270:Slc28a3
|
APN |
13 |
58,728,398 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02271:Slc28a3
|
APN |
13 |
58,706,451 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL02373:Slc28a3
|
APN |
13 |
58,726,218 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02542:Slc28a3
|
APN |
13 |
58,721,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03242:Slc28a3
|
APN |
13 |
58,722,063 (GRCm39) |
nonsense |
probably null |
|
|
R0256:Slc28a3
|
UTSW |
13 |
58,721,314 (GRCm39) |
missense |
probably benign |
|
|
R0323:Slc28a3
|
UTSW |
13 |
58,711,866 (GRCm39) |
nonsense |
probably null |
|
|
R0391:Slc28a3
|
UTSW |
13 |
58,717,229 (GRCm39) |
splice site |
probably benign |
|
|
R0838:Slc28a3
|
UTSW |
13 |
58,736,083 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1433:Slc28a3
|
UTSW |
13 |
58,710,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1437:Slc28a3
|
UTSW |
13 |
58,706,389 (GRCm39) |
nonsense |
probably null |
|
|
R3499:Slc28a3
|
UTSW |
13 |
58,721,253 (GRCm39) |
splice site |
probably benign |
|
|
R3822:Slc28a3
|
UTSW |
13 |
58,706,092 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3948:Slc28a3
|
UTSW |
13 |
58,710,824 (GRCm39) |
splice site |
probably null |
|
|
R4011:Slc28a3
|
UTSW |
13 |
58,714,064 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4028:Slc28a3
|
UTSW |
13 |
58,758,570 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4073:Slc28a3
|
UTSW |
13 |
58,707,104 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4745:Slc28a3
|
UTSW |
13 |
58,722,077 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4939:Slc28a3
|
UTSW |
13 |
58,706,395 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5416:Slc28a3
|
UTSW |
13 |
58,724,607 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5421:Slc28a3
|
UTSW |
13 |
58,722,079 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5426:Slc28a3
|
UTSW |
13 |
58,710,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5688:Slc28a3
|
UTSW |
13 |
58,706,463 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6066:Slc28a3
|
UTSW |
13 |
58,726,301 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6790:Slc28a3
|
UTSW |
13 |
58,730,464 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6919:Slc28a3
|
UTSW |
13 |
58,721,257 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7009:Slc28a3
|
UTSW |
13 |
58,758,618 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7102:Slc28a3
|
UTSW |
13 |
58,736,028 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7305:Slc28a3
|
UTSW |
13 |
58,714,045 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7307:Slc28a3
|
UTSW |
13 |
58,710,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7464:Slc28a3
|
UTSW |
13 |
58,710,835 (GRCm39) |
nonsense |
probably null |
|
|
R7864:Slc28a3
|
UTSW |
13 |
58,726,217 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8477:Slc28a3
|
UTSW |
13 |
58,724,609 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R8758:Slc28a3
|
UTSW |
13 |
58,720,424 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8833:Slc28a3
|
UTSW |
13 |
58,707,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8987:Slc28a3
|
UTSW |
13 |
58,719,254 (GRCm39) |
splice site |
probably benign |
|
|
R9127:Slc28a3
|
UTSW |
13 |
58,724,581 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9566:Slc28a3
|
UTSW |
13 |
58,758,653 (GRCm39) |
start gained |
probably benign |
|
|
R9629:Slc28a3
|
UTSW |
13 |
58,717,187 (GRCm39) |
nonsense |
probably null |
|
|
R9789:Slc28a3
|
UTSW |
13 |
58,724,664 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCGTGTGTTTGTAATGGAACCC -3'
(R):5'- TGTGTGTTTCATCCTCGATACG -3'
Sequencing Primer
(F):5'- TAATGGAACCCGGGGTGCAC -3'
(R):5'- CCTCGATACGATATTCAAGTTGGCAC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation