Incidental Mutation 'IGL02017:Slc43a3'
| ID |
183803 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc43a3
|
| Ensembl Gene |
ENSMUSG00000027074 |
| Gene Name |
solute carrier family 43, member 3 |
| Synonyms |
Eeg1, SEEEG-1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02017
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
84766923-84788853 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 84768585 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 68
(E68G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116513
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090726]
[ENSMUST00000130278]
[ENSMUST00000138719]
[ENSMUST00000141650]
|
| AlphaFold |
A2AVZ9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090726
AA Change: E68G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000088227
Gene: ENSMUSG00000027074
AA Change: E68G
| 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: E68G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000121959
Gene: ENSMUSG00000027074
AA Change: E68G
| 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: E68G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000116513
Gene: ENSMUSG00000027074
AA Change: E68G
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam5 |
A |
T |
8: 25,271,775 (GRCm39) |
I544N |
probably benign |
Het |
| Ago2 |
T |
C |
15: 72,998,366 (GRCm39) |
T271A |
probably benign |
Het |
| Aox3 |
A |
C |
1: 58,160,151 (GRCm39) |
K111N |
probably damaging |
Het |
| Arhgap39 |
G |
A |
15: 76,621,237 (GRCm39) |
R455C |
probably damaging |
Het |
| Brcc3 |
A |
G |
X: 74,466,389 (GRCm39) |
D67G |
possibly damaging |
Het |
| Crot |
T |
G |
5: 9,020,046 (GRCm39) |
|
probably benign |
Het |
| Dipk1c |
A |
T |
18: 84,754,950 (GRCm39) |
D142V |
probably damaging |
Het |
| Dusp5 |
A |
G |
19: 53,525,937 (GRCm39) |
H193R |
probably damaging |
Het |
| Ect2 |
G |
A |
3: 27,176,193 (GRCm39) |
R644* |
probably null |
Het |
| Epn3 |
A |
G |
11: 94,385,852 (GRCm39) |
S190P |
probably benign |
Het |
| Fam3c |
A |
G |
6: 22,343,276 (GRCm39) |
M1T |
probably null |
Het |
| Kif4 |
A |
G |
X: 99,681,960 (GRCm39) |
N197S |
probably benign |
Het |
| Krt1c |
T |
C |
15: 101,724,939 (GRCm39) |
N224D |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 68,071,720 (GRCm39) |
H869R |
probably benign |
Het |
| Lrrc14 |
G |
T |
15: 76,597,942 (GRCm39) |
R224L |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,393,724 (GRCm39) |
D864G |
probably damaging |
Het |
| Map3k11 |
C |
T |
19: 5,747,651 (GRCm39) |
S603F |
possibly damaging |
Het |
| Mxra7 |
A |
G |
11: 116,702,747 (GRCm39) |
|
probably null |
Het |
| Myo5b |
C |
A |
18: 74,850,070 (GRCm39) |
D1139E |
probably damaging |
Het |
| Nek9 |
T |
C |
12: 85,376,697 (GRCm39) |
Y228C |
probably damaging |
Het |
| Nxph1 |
T |
C |
6: 9,247,743 (GRCm39) |
I238T |
probably damaging |
Het |
| Or2r11 |
T |
C |
6: 42,437,758 (GRCm39) |
H65R |
probably benign |
Het |
| Or5ac17 |
A |
G |
16: 59,036,310 (GRCm39) |
L222P |
probably damaging |
Het |
| Or9i1 |
T |
A |
19: 13,839,595 (GRCm39) |
V146E |
possibly damaging |
Het |
| Pdpn |
A |
G |
4: 142,997,140 (GRCm39) |
|
probably benign |
Het |
| Plbd2 |
T |
C |
5: 120,626,623 (GRCm39) |
T329A |
probably damaging |
Het |
| Ptpn6 |
T |
C |
6: 124,709,449 (GRCm39) |
D8G |
probably damaging |
Het |
| Rad54l2 |
T |
C |
9: 106,631,239 (GRCm39) |
D16G |
possibly damaging |
Het |
| Snph |
G |
A |
2: 151,442,902 (GRCm39) |
R16C |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,555,560 (GRCm39) |
R28736* |
probably null |
Het |
| Vmn1r18 |
G |
A |
6: 57,366,741 (GRCm39) |
A271V |
probably benign |
Het |
|
| Other mutations in Slc43a3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R6729:Slc43a3
|
UTSW |
2 |
84,768,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation