Incidental Mutation 'IGL02405:Slc43a3'
ID |
292047 |
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 # |
IGL02405
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
A |
G |
17: 24,498,036 (GRCm39) |
S1434P |
possibly damaging |
Het |
Abcc12 |
G |
T |
8: 87,284,782 (GRCm39) |
Q278K |
probably damaging |
Het |
Adk |
A |
G |
14: 21,153,899 (GRCm39) |
K48R |
probably benign |
Het |
Atp8b3 |
C |
T |
10: 80,366,462 (GRCm39) |
G267D |
probably damaging |
Het |
Bpifa6 |
T |
A |
2: 153,832,782 (GRCm39) |
L299* |
probably null |
Het |
Cblb |
G |
A |
16: 51,986,616 (GRCm39) |
A620T |
probably benign |
Het |
Cep128 |
C |
T |
12: 91,233,760 (GRCm39) |
R436H |
probably benign |
Het |
Chd4 |
A |
G |
6: 125,074,190 (GRCm39) |
D21G |
probably benign |
Het |
Cnksr1 |
T |
C |
4: 133,963,592 (GRCm39) |
D30G |
possibly damaging |
Het |
Crybb2 |
A |
G |
5: 113,206,374 (GRCm39) |
Y154H |
probably damaging |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Dhx57 |
A |
T |
17: 80,562,979 (GRCm39) |
|
probably null |
Het |
Eri2 |
T |
C |
7: 119,384,705 (GRCm39) |
R599G |
probably damaging |
Het |
Fcrl1 |
A |
C |
3: 87,293,074 (GRCm39) |
K244Q |
probably damaging |
Het |
Gm11992 |
A |
G |
11: 9,009,939 (GRCm39) |
N179S |
probably benign |
Het |
Hgfac |
A |
G |
5: 35,201,824 (GRCm39) |
D319G |
probably benign |
Het |
Irf5 |
G |
A |
6: 29,535,760 (GRCm39) |
R258H |
probably damaging |
Het |
Mecr |
G |
A |
4: 131,590,303 (GRCm39) |
|
probably null |
Het |
Obscn |
T |
G |
11: 59,023,428 (GRCm39) |
K650Q |
probably damaging |
Het |
Or5b98 |
A |
G |
19: 12,931,823 (GRCm39) |
Y290C |
probably damaging |
Het |
Pde4d |
T |
C |
13: 108,996,743 (GRCm39) |
|
probably null |
Het |
Saxo4 |
G |
A |
19: 10,451,930 (GRCm39) |
T406I |
probably damaging |
Het |
Serpinh1 |
A |
G |
7: 98,996,541 (GRCm39) |
M217T |
possibly damaging |
Het |
Setbp1 |
A |
T |
18: 78,900,514 (GRCm39) |
M1051K |
probably damaging |
Het |
Supt5 |
T |
C |
7: 28,015,249 (GRCm39) |
N969D |
probably benign |
Het |
Taf2 |
A |
T |
15: 54,897,551 (GRCm39) |
|
probably benign |
Het |
Tlr2 |
A |
G |
3: 83,743,981 (GRCm39) |
F701L |
probably damaging |
Het |
Trim46 |
T |
C |
3: 89,149,792 (GRCm39) |
T222A |
probably benign |
Het |
Tshz3 |
A |
T |
7: 36,469,075 (GRCm39) |
N355Y |
possibly damaging |
Het |
Vmn2r3 |
A |
G |
3: 64,178,620 (GRCm39) |
|
probably benign |
Het |
Xkr9 |
A |
T |
1: 13,742,997 (GRCm39) |
|
probably benign |
Het |
Zfhx3 |
C |
T |
8: 109,682,374 (GRCm39) |
A3271V |
unknown |
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 |
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 |
2015-04-16 |