Incidental Mutation 'IGL00948:Slc41a3'
ID |
27658 |
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 # |
IGL00948
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
90581707-90623394 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 90622696 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 441
(D441V)
|
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: D441V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000032177 Gene: ENSMUSG00000030089 AA Change: D441V
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: D467V
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000037473 Gene: ENSMUSG00000030089 AA Change: D467V
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: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ccl2 |
A |
T |
11: 81,926,558 (GRCm39) |
Q24L |
possibly damaging |
Het |
Cd33 |
G |
A |
7: 43,178,982 (GRCm39) |
|
probably benign |
Het |
Cmya5 |
T |
C |
13: 93,227,544 (GRCm39) |
I2515V |
probably benign |
Het |
Cntnap5b |
A |
G |
1: 100,069,082 (GRCm39) |
T101A |
probably benign |
Het |
Cyp4a12a |
T |
A |
4: 115,159,159 (GRCm39) |
M143K |
probably damaging |
Het |
Ephb4 |
C |
A |
5: 137,364,921 (GRCm39) |
S663R |
probably damaging |
Het |
Gm4847 |
T |
C |
1: 166,457,907 (GRCm39) |
D482G |
probably benign |
Het |
Gskip |
C |
A |
12: 105,665,103 (GRCm39) |
N47K |
probably damaging |
Het |
Kmt2c |
T |
C |
5: 25,582,159 (GRCm39) |
Y473C |
probably benign |
Het |
Lrrc7 |
T |
A |
3: 157,867,194 (GRCm39) |
N849I |
probably damaging |
Het |
Magel2 |
T |
A |
7: 62,029,070 (GRCm39) |
V658E |
unknown |
Het |
Nmral1 |
C |
T |
16: 4,534,270 (GRCm39) |
G57E |
probably damaging |
Het |
Or6c211 |
A |
T |
10: 129,505,756 (GRCm39) |
L211I |
probably damaging |
Het |
Or8b54 |
C |
T |
9: 38,687,108 (GRCm39) |
Q186* |
probably null |
Het |
Padi3 |
C |
A |
4: 140,516,254 (GRCm39) |
R542L |
possibly damaging |
Het |
Plrg1 |
T |
C |
3: 82,975,426 (GRCm39) |
V260A |
probably damaging |
Het |
Prex2 |
A |
G |
1: 11,240,838 (GRCm39) |
H982R |
probably damaging |
Het |
Rbm26 |
T |
A |
14: 105,387,779 (GRCm39) |
T448S |
probably damaging |
Het |
Ryr1 |
C |
T |
7: 28,719,620 (GRCm39) |
M4262I |
possibly damaging |
Het |
Slc7a2 |
A |
G |
8: 41,365,561 (GRCm39) |
E448G |
probably benign |
Het |
Smtnl2 |
C |
A |
11: 72,302,067 (GRCm39) |
|
probably null |
Het |
Tox3 |
G |
A |
8: 90,997,062 (GRCm39) |
P66L |
probably damaging |
Het |
Vmn1r19 |
T |
C |
6: 57,382,247 (GRCm39) |
F267L |
probably benign |
Het |
Vmn2r12 |
A |
G |
5: 109,245,541 (GRCm39) |
S64P |
possibly damaging |
Het |
Zfp764 |
T |
C |
7: 127,004,376 (GRCm39) |
S252G |
possibly damaging |
Het |
|
Other mutations in Slc41a3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02583:Slc41a3
|
APN |
6 |
90,621,153 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
2013-04-17 |