Incidental Mutation 'IGL02583:Slc41a3'
ID |
299442 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slc41a3
|
Ensembl Gene |
ENSMUSG00000030089 |
Gene Name |
solute carrier family 41, member 3 |
Synonyms |
1010001P06Rik, SLC41A1-L2 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02583
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
90581707-90623394 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 90621153 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Serine
at position 372
(G372S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032177
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032177]
[ENSMUST00000044019]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000032177
AA Change: G372S
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000032177 Gene: ENSMUSG00000030089 AA Change: G372S
Domain | Start | End | E-Value | Type |
transmembrane domain
|
42 |
64 |
N/A |
INTRINSIC |
Pfam:MgtE
|
80 |
214 |
3.4e-27 |
PFAM |
transmembrane domain
|
224 |
246 |
N/A |
INTRINSIC |
transmembrane domain
|
258 |
277 |
N/A |
INTRINSIC |
Pfam:MgtE
|
293 |
437 |
9.8e-27 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044019
AA Change: G398S
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000037473 Gene: ENSMUSG00000030089 AA Change: G398S
Domain | Start | End | E-Value | Type |
transmembrane domain
|
68 |
90 |
N/A |
INTRINSIC |
Pfam:MgtE
|
106 |
240 |
2.5e-27 |
PFAM |
transmembrane domain
|
250 |
272 |
N/A |
INTRINSIC |
transmembrane domain
|
284 |
303 |
N/A |
INTRINSIC |
Pfam:MgtE
|
319 |
463 |
7.2e-27 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit altered magnesium ion homeostasis including hypomagnesemia. A subset of homozygotes develop severe unilateral hydronephrosis when fed a low magnesium diet. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930584F24Rik |
C |
T |
5: 26,684,717 (GRCm39) |
|
noncoding transcript |
Het |
A430005L14Rik |
T |
A |
4: 154,045,392 (GRCm39) |
D140E |
possibly damaging |
Het |
Bod1l |
C |
T |
5: 41,973,550 (GRCm39) |
|
probably null |
Het |
Brms1 |
T |
A |
19: 5,096,206 (GRCm39) |
V61D |
probably damaging |
Het |
Card11 |
A |
T |
5: 140,863,881 (GRCm39) |
N952K |
probably benign |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Cimap2 |
A |
T |
4: 106,468,602 (GRCm39) |
|
probably benign |
Het |
Col15a1 |
T |
C |
4: 47,279,866 (GRCm39) |
V697A |
probably benign |
Het |
Col7a1 |
A |
T |
9: 108,791,297 (GRCm39) |
I1118F |
unknown |
Het |
Cyfip2 |
T |
C |
11: 46,140,585 (GRCm39) |
E746G |
possibly damaging |
Het |
Dach1 |
A |
G |
14: 98,065,830 (GRCm39) |
|
probably benign |
Het |
Dock11 |
G |
T |
X: 35,270,370 (GRCm39) |
G1023W |
possibly damaging |
Het |
Fbxo10 |
T |
C |
4: 45,044,754 (GRCm39) |
D453G |
probably damaging |
Het |
Fhad1 |
T |
C |
4: 141,738,955 (GRCm39) |
|
probably benign |
Het |
Gm17415 |
A |
G |
1: 93,349,801 (GRCm39) |
|
probably benign |
Het |
Gm4781 |
A |
T |
10: 100,232,507 (GRCm39) |
|
noncoding transcript |
Het |
Gpatch2 |
A |
C |
1: 186,965,514 (GRCm39) |
|
probably null |
Het |
Gpatch2 |
G |
T |
1: 186,965,515 (GRCm39) |
|
probably null |
Het |
Greb1 |
A |
G |
12: 16,756,296 (GRCm39) |
|
probably benign |
Het |
Greb1l |
A |
G |
18: 10,542,362 (GRCm39) |
Y1319C |
probably damaging |
Het |
Ice1 |
C |
T |
13: 70,753,854 (GRCm39) |
R744H |
possibly damaging |
Het |
Kcnq2 |
T |
A |
2: 180,723,295 (GRCm39) |
S694C |
probably benign |
Het |
Krt35 |
C |
A |
11: 99,983,360 (GRCm39) |
V448L |
possibly damaging |
Het |
Lmo7 |
A |
G |
14: 102,171,360 (GRCm39) |
|
probably benign |
Het |
Megf8 |
T |
C |
7: 25,055,218 (GRCm39) |
S1984P |
probably benign |
Het |
Nlrp1a |
T |
C |
11: 71,014,227 (GRCm39) |
Q341R |
probably benign |
Het |
Or1p1 |
T |
A |
11: 74,180,330 (GRCm39) |
L286Q |
probably damaging |
Het |
Or51a6 |
T |
C |
7: 102,603,918 (GRCm39) |
T297A |
possibly damaging |
Het |
Osr1 |
C |
T |
12: 9,629,675 (GRCm39) |
H183Y |
probably damaging |
Het |
Paf1 |
T |
C |
7: 28,095,596 (GRCm39) |
V202A |
probably damaging |
Het |
Pde10a |
A |
G |
17: 9,200,462 (GRCm39) |
K1071E |
probably benign |
Het |
Pwp2 |
T |
C |
10: 78,016,917 (GRCm39) |
R268G |
probably benign |
Het |
Rwdd1 |
T |
A |
10: 33,877,669 (GRCm39) |
K178* |
probably null |
Het |
Scn10a |
A |
T |
9: 119,520,506 (GRCm39) |
|
probably benign |
Het |
Sema3g |
A |
G |
14: 30,943,476 (GRCm39) |
|
probably null |
Het |
Slc22a6 |
C |
A |
19: 8,600,980 (GRCm39) |
A391E |
possibly damaging |
Het |
Sqor |
G |
T |
2: 122,641,690 (GRCm39) |
K3N |
probably damaging |
Het |
Srl |
T |
C |
16: 4,310,244 (GRCm39) |
Q495R |
possibly damaging |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Stxbp3 |
G |
T |
3: 108,708,187 (GRCm39) |
D371E |
probably damaging |
Het |
Tnfrsf19 |
C |
A |
14: 61,261,659 (GRCm39) |
V47F |
probably damaging |
Het |
Usp11 |
A |
T |
X: 20,584,284 (GRCm39) |
E622V |
probably benign |
Het |
Vmn1r52 |
T |
A |
6: 90,156,126 (GRCm39) |
Y143* |
probably null |
Het |
Zfp280d |
A |
G |
9: 72,229,727 (GRCm39) |
|
probably benign |
Het |
Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
Zmat1 |
T |
C |
X: 133,874,021 (GRCm39) |
T457A |
probably damaging |
Het |
|
Other mutations in Slc41a3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00948:Slc41a3
|
APN |
6 |
90,622,696 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4378001:Slc41a3
|
UTSW |
6 |
90,617,891 (GRCm39) |
missense |
probably benign |
0.36 |
R1076:Slc41a3
|
UTSW |
6 |
90,621,142 (GRCm39) |
missense |
probably benign |
|
R1529:Slc41a3
|
UTSW |
6 |
90,621,198 (GRCm39) |
missense |
probably damaging |
0.99 |
R1591:Slc41a3
|
UTSW |
6 |
90,610,677 (GRCm39) |
missense |
probably benign |
0.02 |
R1985:Slc41a3
|
UTSW |
6 |
90,619,210 (GRCm39) |
missense |
probably damaging |
1.00 |
R2133:Slc41a3
|
UTSW |
6 |
90,603,363 (GRCm39) |
missense |
probably damaging |
0.99 |
R2308:Slc41a3
|
UTSW |
6 |
90,589,102 (GRCm39) |
missense |
possibly damaging |
0.51 |
R2384:Slc41a3
|
UTSW |
6 |
90,603,393 (GRCm39) |
missense |
probably damaging |
0.98 |
R2697:Slc41a3
|
UTSW |
6 |
90,619,302 (GRCm39) |
missense |
possibly damaging |
0.81 |
R3237:Slc41a3
|
UTSW |
6 |
90,613,847 (GRCm39) |
missense |
probably benign |
0.10 |
R4287:Slc41a3
|
UTSW |
6 |
90,617,904 (GRCm39) |
missense |
probably benign |
0.00 |
R4394:Slc41a3
|
UTSW |
6 |
90,612,312 (GRCm39) |
missense |
probably damaging |
1.00 |
R5039:Slc41a3
|
UTSW |
6 |
90,603,399 (GRCm39) |
missense |
probably damaging |
1.00 |
R5195:Slc41a3
|
UTSW |
6 |
90,610,653 (GRCm39) |
missense |
probably damaging |
1.00 |
R5293:Slc41a3
|
UTSW |
6 |
90,603,426 (GRCm39) |
missense |
probably damaging |
0.99 |
R5338:Slc41a3
|
UTSW |
6 |
90,589,153 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5608:Slc41a3
|
UTSW |
6 |
90,617,889 (GRCm39) |
missense |
probably benign |
0.06 |
R5681:Slc41a3
|
UTSW |
6 |
90,617,928 (GRCm39) |
missense |
probably damaging |
0.99 |
R5783:Slc41a3
|
UTSW |
6 |
90,596,524 (GRCm39) |
missense |
probably benign |
0.06 |
R6648:Slc41a3
|
UTSW |
6 |
90,596,490 (GRCm39) |
missense |
probably damaging |
0.99 |
R7867:Slc41a3
|
UTSW |
6 |
90,617,909 (GRCm39) |
missense |
probably damaging |
0.96 |
R8733:Slc41a3
|
UTSW |
6 |
90,610,710 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8776:Slc41a3
|
UTSW |
6 |
90,621,165 (GRCm39) |
missense |
probably benign |
0.06 |
R8776-TAIL:Slc41a3
|
UTSW |
6 |
90,621,165 (GRCm39) |
missense |
probably benign |
0.06 |
R8905:Slc41a3
|
UTSW |
6 |
90,589,123 (GRCm39) |
missense |
probably benign |
0.11 |
R9365:Slc41a3
|
UTSW |
6 |
90,612,327 (GRCm39) |
missense |
probably benign |
0.05 |
R9747:Slc41a3
|
UTSW |
6 |
90,621,138 (GRCm39) |
missense |
probably benign |
0.37 |
X0025:Slc41a3
|
UTSW |
6 |
90,612,304 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Slc41a3
|
UTSW |
6 |
90,596,555 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2015-04-16 |