Incidental Mutation 'R6729:Slc43a3'
| ID |
529965 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc43a3
|
| Ensembl Gene |
ENSMUSG00000027074 |
| Gene Name |
solute carrier family 43, member 3 |
| Synonyms |
Eeg1, SEEEG-1 |
| MMRRC Submission |
044847-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6729 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
84766923-84788853 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 84768629 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 83
(F83L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121959
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090726]
[ENSMUST00000130278]
[ENSMUST00000138719]
[ENSMUST00000141650]
|
| AlphaFold |
A2AVZ9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090726
AA Change: F83L
PolyPhen 2
Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000088227
Gene: ENSMUSG00000027074
AA Change: F83L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
12 |
457 |
1.2e-20 |
PFAM |
|
transmembrane domain
|
470 |
487 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130278
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000138719
AA Change: F83L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121959
Gene: ENSMUSG00000027074
AA Change: F83L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
transmembrane domain
|
70 |
92 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000141650
AA Change: F83L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000116513
Gene: ENSMUSG00000027074
AA Change: F83L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
transmembrane domain
|
70 |
92 |
N/A |
INTRINSIC |
|
transmembrane domain
|
99 |
118 |
N/A |
INTRINSIC |
|
transmembrane domain
|
123 |
145 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155506
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155537
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (34/34) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad12 |
A |
T |
5: 121,745,998 (GRCm39) |
H230Q |
probably damaging |
Het |
| AI182371 |
G |
T |
2: 34,974,717 (GRCm39) |
|
probably benign |
Het |
| Ank3 |
T |
C |
10: 69,644,755 (GRCm39) |
V73A |
probably damaging |
Het |
| Apbb1 |
A |
T |
7: 105,214,588 (GRCm39) |
M28K |
probably damaging |
Het |
| Atp6v1f |
A |
G |
6: 29,467,964 (GRCm39) |
D50G |
probably benign |
Het |
| Bltp3b |
T |
A |
10: 89,641,546 (GRCm39) |
S906T |
probably benign |
Het |
| Cdkal1 |
G |
A |
13: 29,658,678 (GRCm39) |
T356M |
probably damaging |
Het |
| Clca3a1 |
A |
G |
3: 144,711,727 (GRCm39) |
I756T |
probably damaging |
Het |
| Cplane1 |
T |
C |
15: 8,218,085 (GRCm39) |
|
probably null |
Het |
| Cyp17a1 |
A |
G |
19: 46,659,020 (GRCm39) |
V207A |
probably benign |
Het |
| Dnah7c |
A |
G |
1: 46,711,681 (GRCm39) |
E2636G |
possibly damaging |
Het |
| Gm13090 |
A |
T |
4: 151,174,085 (GRCm39) |
|
probably benign |
Het |
| Nceh1 |
T |
A |
3: 27,295,420 (GRCm39) |
L227* |
probably null |
Het |
| Nedd9 |
A |
G |
13: 41,469,278 (GRCm39) |
M625T |
probably damaging |
Het |
| Or10n1 |
A |
T |
9: 39,525,069 (GRCm39) |
M69L |
probably benign |
Het |
| Or4d1 |
G |
A |
11: 87,805,676 (GRCm39) |
Q19* |
probably null |
Het |
| Or4d10c |
T |
A |
19: 12,065,860 (GRCm39) |
M99L |
probably benign |
Het |
| Or8b53 |
A |
G |
9: 38,667,124 (GRCm39) |
I47V |
probably benign |
Het |
| Pcsk4 |
T |
C |
10: 80,160,935 (GRCm39) |
N297S |
probably damaging |
Het |
| Psg21 |
T |
A |
7: 18,386,516 (GRCm39) |
I157F |
probably damaging |
Het |
| Rabep2 |
T |
C |
7: 126,039,369 (GRCm39) |
V294A |
probably benign |
Het |
| Rsph1 |
A |
G |
17: 31,496,226 (GRCm39) |
S2P |
unknown |
Het |
| Sacs |
A |
G |
14: 61,447,967 (GRCm39) |
K3338E |
probably damaging |
Het |
| Slc35f4 |
T |
G |
14: 49,556,417 (GRCm39) |
N112T |
probably benign |
Het |
| Slc6a15 |
T |
C |
10: 103,229,775 (GRCm39) |
V154A |
probably damaging |
Het |
| Synj2 |
T |
A |
17: 6,036,289 (GRCm39) |
M1K |
probably null |
Het |
| Tcp1 |
G |
A |
17: 13,142,140 (GRCm39) |
R378Q |
probably damaging |
Het |
| Tead2 |
A |
G |
7: 44,866,658 (GRCm39) |
T6A |
probably benign |
Het |
| Tpte |
G |
T |
8: 22,845,491 (GRCm39) |
V514L |
probably damaging |
Het |
| Trpm6 |
A |
G |
19: 18,807,661 (GRCm39) |
N1069D |
probably damaging |
Het |
| Vmn2r105 |
C |
A |
17: 20,428,605 (GRCm39) |
G824C |
probably damaging |
Het |
| Yod1 |
G |
A |
1: 130,645,275 (GRCm39) |
G19S |
probably damaging |
Het |
| Zfp934 |
A |
T |
13: 62,640,746 (GRCm39) |
N2K |
probably damaging |
Het |
|
| Other mutations in Slc43a3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02017:Slc43a3
|
APN |
2 |
84,768,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02405:Slc43a3
|
APN |
2 |
84,768,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02756:Slc43a3
|
APN |
2 |
84,774,612 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0276:Slc43a3
|
UTSW |
2 |
84,768,007 (GRCm39) |
start gained |
probably benign |
|
|
R1158:Slc43a3
|
UTSW |
2 |
84,768,140 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1865:Slc43a3
|
UTSW |
2 |
84,777,245 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1992:Slc43a3
|
UTSW |
2 |
84,788,084 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2073:Slc43a3
|
UTSW |
2 |
84,774,956 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2243:Slc43a3
|
UTSW |
2 |
84,778,782 (GRCm39) |
unclassified |
probably benign |
|
|
R3819:Slc43a3
|
UTSW |
2 |
84,774,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4758:Slc43a3
|
UTSW |
2 |
84,774,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5294:Slc43a3
|
UTSW |
2 |
84,786,654 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5369:Slc43a3
|
UTSW |
2 |
84,788,067 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6516:Slc43a3
|
UTSW |
2 |
84,788,105 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7012:Slc43a3
|
UTSW |
2 |
84,777,313 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8358:Slc43a3
|
UTSW |
2 |
84,780,860 (GRCm39) |
missense |
probably benign |
0.38 |
|
R8391:Slc43a3
|
UTSW |
2 |
84,768,151 (GRCm39) |
missense |
probably benign |
0.32 |
|
R8711:Slc43a3
|
UTSW |
2 |
84,768,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9382:Slc43a3
|
UTSW |
2 |
84,780,771 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9729:Slc43a3
|
UTSW |
2 |
84,780,800 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTCAGCAAAGTTGTTCAAGG -3'
(R):5'- TTGAAACCCTGGCCTCTCAG -3'
Sequencing Primer
(F):5'- TCAGCAAAGTTGTTCAAGGTAGAG -3'
(R):5'- GCCTCTCAGGAAGTTGAGCATATAAC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation