Incidental Mutation 'R2308:Slc41a3'
ID |
244677 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc41a3
|
Ensembl Gene |
ENSMUSG00000030089 |
Gene Name |
solute carrier family 41, member 3 |
Synonyms |
1010001P06Rik, SLC41A1-L2 |
MMRRC Submission |
040307-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2308 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
90581707-90623394 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 90589102 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Lysine
at position 71
(I71K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037473
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044019]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044019
AA Change: I71K
PolyPhen 2
Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000037473 Gene: ENSMUSG00000030089 AA Change: I71K
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 |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 93.3%
|
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 |
Depdc1b |
G |
A |
13: 108,510,375 (GRCm39) |
V296I |
possibly damaging |
Het |
Dot1l |
T |
C |
10: 80,624,903 (GRCm39) |
S907P |
probably damaging |
Het |
Epha7 |
G |
A |
4: 28,821,503 (GRCm39) |
E223K |
possibly damaging |
Het |
Ercc6 |
T |
C |
14: 32,288,366 (GRCm39) |
I846T |
possibly damaging |
Het |
Exoc4 |
A |
G |
6: 33,895,503 (GRCm39) |
Y840C |
probably damaging |
Het |
Gramd1a |
T |
C |
7: 30,839,215 (GRCm39) |
D231G |
probably damaging |
Het |
Mark2 |
A |
C |
19: 7,259,299 (GRCm39) |
S90A |
probably damaging |
Het |
Mbd1 |
A |
G |
18: 74,409,548 (GRCm39) |
Q432R |
probably benign |
Het |
Mcm2 |
G |
A |
6: 88,869,990 (GRCm39) |
R60C |
probably damaging |
Het |
Met |
T |
C |
6: 17,491,741 (GRCm39) |
S168P |
probably benign |
Het |
Nup210 |
T |
C |
6: 91,017,850 (GRCm39) |
I304V |
probably benign |
Het |
Or1ak2 |
T |
A |
2: 36,827,312 (GRCm39) |
Y60* |
probably null |
Het |
Or4a27 |
T |
A |
2: 88,559,428 (GRCm39) |
I172F |
probably damaging |
Het |
Ppfia4 |
A |
G |
1: 134,260,135 (GRCm39) |
S43P |
possibly damaging |
Het |
Rbbp8 |
A |
T |
18: 11,829,833 (GRCm39) |
K132I |
possibly damaging |
Het |
Rpap1 |
G |
A |
2: 119,614,247 (GRCm39) |
P50L |
probably benign |
Het |
Spaca7 |
A |
T |
8: 12,648,959 (GRCm39) |
N127I |
probably benign |
Het |
Stkld1 |
A |
T |
2: 26,842,726 (GRCm39) |
D566V |
probably damaging |
Het |
Tbxas1 |
A |
G |
6: 39,004,595 (GRCm39) |
M281V |
probably benign |
Het |
Txnl1 |
T |
C |
18: 63,804,691 (GRCm39) |
T268A |
probably benign |
Het |
Unc80 |
A |
T |
1: 66,688,156 (GRCm39) |
I2385F |
possibly damaging |
Het |
Vmn2r118 |
A |
G |
17: 55,931,650 (GRCm39) |
I8T |
probably benign |
Het |
Vmn2r80 |
T |
C |
10: 79,007,455 (GRCm39) |
F477S |
probably damaging |
Het |
Ythdc2 |
A |
G |
18: 44,980,815 (GRCm39) |
E470G |
possibly damaging |
Het |
Zfp352 |
A |
G |
4: 90,113,480 (GRCm39) |
K540R |
probably benign |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTTGTGTCTCCCAGGTCAGG -3'
(R):5'- AGCCCAGCCACTATCTTACTG -3'
Sequencing Primer
(F):5'- CGTGTGCTGATGGAAGGGAC -3'
(R):5'- ACTATCTTACTGTGCTTAACTTGGG -3'
|
Posted On |
2014-10-30 |