Incidental Mutation 'R9759:Slc23a3'
| ID |
732887 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc23a3
|
| Ensembl Gene |
ENSMUSG00000026205 |
| Gene Name |
solute carrier family 23 (nucleobase transporters), member 3 |
| Synonyms |
Yspl1, SVCT3 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9759 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
75102185-75110534 bp(-) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
ATT to ATTT
at 75109925 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027405
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027405]
[ENSMUST00000041213]
[ENSMUST00000168720]
[ENSMUST00000190679]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000027405
|
| SMART Domains |
Protein: ENSMUSP00000027405
Gene: ENSMUSG00000026205
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
30 |
N/A |
INTRINSIC |
|
Pfam:Xan_ur_permease
|
50 |
122 |
4.6e-12 |
PFAM |
|
Pfam:Xan_ur_permease
|
115 |
476 |
2.3e-100 |
PFAM |
|
transmembrane domain
|
490 |
512 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041213
|
| SMART Domains |
Protein: ENSMUSP00000044799
Gene: ENSMUSG00000033159
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cyclin
|
72 |
174 |
7.5e-10 |
PFAM |
|
low complexity region
|
231 |
252 |
N/A |
INTRINSIC |
|
low complexity region
|
256 |
268 |
N/A |
INTRINSIC |
|
low complexity region
|
310 |
331 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168720
|
| SMART Domains |
Protein: ENSMUSP00000132688
Gene: ENSMUSG00000033159
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cyclin
|
49 |
174 |
5.2e-13 |
PFAM |
|
Pfam:Cyclin_N
|
55 |
175 |
4.4e-6 |
PFAM |
|
low complexity region
|
231 |
252 |
N/A |
INTRINSIC |
|
low complexity region
|
256 |
268 |
N/A |
INTRINSIC |
|
low complexity region
|
310 |
331 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190679
|
| SMART Domains |
Protein: ENSMUSP00000140289
Gene: ENSMUSG00000033159
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cyclin
|
49 |
174 |
5.2e-13 |
PFAM |
|
Pfam:Cyclin_N
|
55 |
175 |
4.4e-6 |
PFAM |
|
low complexity region
|
231 |
252 |
N/A |
INTRINSIC |
|
low complexity region
|
256 |
268 |
N/A |
INTRINSIC |
|
low complexity region
|
310 |
331 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
G |
T |
13: 119,615,989 (GRCm39) |
W508L |
probably damaging |
Het |
| Abt1 |
G |
T |
13: 23,606,439 (GRCm39) |
Q172K |
probably damaging |
Het |
| Aoah |
C |
A |
13: 21,000,738 (GRCm39) |
H57Q |
probably damaging |
Het |
| Cpxm2 |
T |
C |
7: 131,756,242 (GRCm39) |
E34G |
probably benign |
Het |
| Ddx25 |
C |
T |
9: 35,457,265 (GRCm39) |
R350Q |
probably benign |
Het |
| Dnah9 |
G |
A |
11: 65,965,944 (GRCm39) |
H1691Y |
probably null |
Het |
| Doc2g |
A |
T |
19: 4,056,571 (GRCm39) |
H319L |
probably benign |
Het |
| Enah |
A |
C |
1: 181,841,911 (GRCm39) |
V6G |
unknown |
Het |
| Fam135b |
T |
G |
15: 71,335,689 (GRCm39) |
T502P |
probably benign |
Het |
| Frem2 |
A |
G |
3: 53,562,918 (GRCm39) |
S530P |
possibly damaging |
Het |
| Gm19410 |
A |
G |
8: 36,252,938 (GRCm39) |
R628G |
possibly damaging |
Het |
| Hdac7 |
T |
C |
15: 97,699,989 (GRCm39) |
T614A |
probably benign |
Het |
| Ift88 |
T |
A |
14: 57,672,256 (GRCm39) |
L32* |
probably null |
Het |
| Insm2 |
C |
T |
12: 55,647,390 (GRCm39) |
T378M |
possibly damaging |
Het |
| Kctd3 |
G |
A |
1: 188,710,786 (GRCm39) |
T459M |
probably damaging |
Het |
| Khsrp |
A |
G |
17: 57,332,925 (GRCm39) |
L188P |
probably benign |
Het |
| Kynu |
A |
G |
2: 43,569,881 (GRCm39) |
I388V |
probably benign |
Het |
| Met |
T |
C |
6: 17,555,561 (GRCm39) |
V1090A |
probably damaging |
Het |
| Mier1 |
C |
T |
4: 103,019,725 (GRCm39) |
T483I |
probably benign |
Het |
| Mthfsd |
A |
G |
8: 121,824,615 (GRCm39) |
S297P |
probably benign |
Het |
| P2rx5 |
A |
T |
11: 73,058,341 (GRCm39) |
I259F |
probably damaging |
Het |
| Pax3 |
A |
G |
1: 78,170,415 (GRCm39) |
L138P |
probably damaging |
Het |
| Pfpl |
G |
C |
19: 12,406,297 (GRCm39) |
E183Q |
probably damaging |
Het |
| Rbm12 |
A |
T |
2: 155,938,546 (GRCm39) |
H575Q |
probably benign |
Het |
| Scube1 |
C |
T |
15: 83,492,465 (GRCm39) |
R953H |
probably benign |
Het |
| Sirt1 |
A |
G |
10: 63,156,516 (GRCm39) |
S705P |
probably benign |
Het |
| Slc46a3 |
T |
C |
5: 147,823,234 (GRCm39) |
T203A |
probably benign |
Het |
| Snta1 |
G |
T |
2: 154,222,889 (GRCm39) |
T278K |
probably benign |
Het |
| Stac3 |
A |
G |
10: 127,344,083 (GRCm39) |
D327G |
possibly damaging |
Het |
| Timm44 |
C |
A |
8: 4,317,707 (GRCm39) |
E205* |
probably null |
Het |
| Timm8a2 |
A |
T |
14: 122,272,216 (GRCm39) |
T40S |
probably damaging |
Het |
| Vmn2r116 |
A |
G |
17: 23,620,360 (GRCm39) |
N698S |
possibly damaging |
Het |
| Zik1 |
A |
C |
7: 10,223,716 (GRCm39) |
C460W |
possibly damaging |
Het |
| Zmynd8 |
A |
C |
2: 165,680,746 (GRCm39) |
I229S |
possibly damaging |
Het |
|
| Other mutations in Slc23a3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00799:Slc23a3
|
APN |
1 |
75,109,925 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0468:Slc23a3
|
UTSW |
1 |
75,109,874 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R3858:Slc23a3
|
UTSW |
1 |
75,106,040 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3913:Slc23a3
|
UTSW |
1 |
75,105,566 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4060:Slc23a3
|
UTSW |
1 |
75,109,964 (GRCm39) |
unclassified |
probably benign |
|
|
R4592:Slc23a3
|
UTSW |
1 |
75,105,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4937:Slc23a3
|
UTSW |
1 |
75,109,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4940:Slc23a3
|
UTSW |
1 |
75,110,447 (GRCm39) |
splice site |
probably null |
|
|
R6213:Slc23a3
|
UTSW |
1 |
75,108,392 (GRCm39) |
missense |
probably benign |
|
|
R6402:Slc23a3
|
UTSW |
1 |
75,105,200 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6644:Slc23a3
|
UTSW |
1 |
75,105,191 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7068:Slc23a3
|
UTSW |
1 |
75,109,877 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7944:Slc23a3
|
UTSW |
1 |
75,106,040 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7945:Slc23a3
|
UTSW |
1 |
75,106,040 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8220:Slc23a3
|
UTSW |
1 |
75,110,511 (GRCm39) |
unclassified |
probably benign |
|
|
R8368:Slc23a3
|
UTSW |
1 |
75,106,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8443:Slc23a3
|
UTSW |
1 |
75,110,085 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8726:Slc23a3
|
UTSW |
1 |
75,106,173 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8843:Slc23a3
|
UTSW |
1 |
75,106,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9014:Slc23a3
|
UTSW |
1 |
75,109,274 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9760:Slc23a3
|
UTSW |
1 |
75,109,925 (GRCm39) |
frame shift |
probably null |
|
|
R9761:Slc23a3
|
UTSW |
1 |
75,109,925 (GRCm39) |
frame shift |
probably null |
|
|
R9762:Slc23a3
|
UTSW |
1 |
75,109,925 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGGCTCTGTGTTCTCCTG -3'
(R):5'- CCAGCATTTCCTGGTCTTGG -3'
Sequencing Primer
(F):5'- CTGTCCTAGCTGATGCCTGG -3'
(R):5'- AGGAGGGCTCTCATACCCAC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation