Incidental Mutation 'R6648:Slc41a3'
| ID |
524352 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc41a3
|
| Ensembl Gene |
ENSMUSG00000030089 |
| Gene Name |
solute carrier family 41, member 3 |
| Synonyms |
1010001P06Rik, SLC41A1-L2 |
| MMRRC Submission |
044769-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6648 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
90581707-90623394 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 90596490 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 20
(F20L)
|
| 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: F20L
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000032177
Gene: ENSMUSG00000030089
AA Change: F20L
| 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 |
probably benign
Transcript: ENSMUST00000044019
|
| SMART Domains |
Protein: ENSMUSP00000037473
Gene: ENSMUSG00000030089
| 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 |
|
| Meta Mutation Damage Score |
0.0830 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.4%
|
| Validation Efficiency |
98% (42/43) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars2 |
T |
C |
17: 45,827,490 (GRCm39) |
Y511H |
probably damaging |
Het |
| Arhgef38 |
A |
T |
3: 132,838,236 (GRCm39) |
I600N |
probably damaging |
Het |
| Cacna1g |
A |
T |
11: 94,323,395 (GRCm39) |
C1270S |
probably damaging |
Het |
| Ccar2 |
T |
G |
14: 70,376,674 (GRCm39) |
D890A |
probably benign |
Het |
| Cep76 |
A |
T |
18: 67,752,804 (GRCm39) |
V548D |
probably benign |
Het |
| Chat |
T |
G |
14: 32,176,651 (GRCm39) |
Q41P |
probably benign |
Het |
| Ddx24 |
T |
A |
12: 103,374,634 (GRCm39) |
N850I |
probably benign |
Het |
| Dst |
A |
G |
1: 34,301,122 (GRCm39) |
I5879V |
possibly damaging |
Het |
| Ece1 |
A |
G |
4: 137,648,470 (GRCm39) |
T92A |
probably benign |
Het |
| Ecrg4 |
T |
A |
1: 43,777,851 (GRCm39) |
F87I |
probably damaging |
Het |
| Fpgs |
G |
T |
2: 32,574,799 (GRCm39) |
C439* |
probably null |
Het |
| H2-Q4 |
A |
T |
17: 35,601,981 (GRCm39) |
E281V |
probably damaging |
Het |
| Hydin |
A |
G |
8: 111,252,299 (GRCm39) |
|
probably null |
Het |
| Iqgap2 |
T |
C |
13: 95,818,719 (GRCm39) |
E679G |
probably benign |
Het |
| Kif12 |
A |
T |
4: 63,089,554 (GRCm39) |
|
probably null |
Het |
| Kif21b |
T |
C |
1: 136,080,135 (GRCm39) |
V557A |
probably benign |
Het |
| Mki67 |
C |
G |
7: 135,299,169 (GRCm39) |
S1955T |
probably damaging |
Het |
| Mybpc1 |
G |
A |
10: 88,358,861 (GRCm39) |
T1110M |
probably damaging |
Het |
| Myh9 |
T |
C |
15: 77,650,972 (GRCm39) |
H1625R |
probably benign |
Het |
| Nbeal2 |
G |
A |
9: 110,466,710 (GRCm39) |
T704M |
probably damaging |
Het |
| Or1ad6 |
G |
A |
11: 50,860,000 (GRCm39) |
D52N |
probably damaging |
Het |
| Or5a21 |
A |
T |
19: 12,311,130 (GRCm39) |
M30K |
probably benign |
Het |
| Osbpl9 |
C |
A |
4: 108,948,876 (GRCm39) |
Q91H |
possibly damaging |
Het |
| Pcsk5 |
A |
T |
19: 17,553,185 (GRCm39) |
L665Q |
probably damaging |
Het |
| Pgm5 |
T |
C |
19: 24,838,996 (GRCm39) |
D53G |
probably benign |
Het |
| Plcd4 |
A |
G |
1: 74,591,172 (GRCm39) |
D189G |
probably benign |
Het |
| Plxnb1 |
A |
T |
9: 108,933,398 (GRCm39) |
Q676L |
probably benign |
Het |
| Prss33 |
A |
G |
17: 24,053,676 (GRCm39) |
S134P |
probably benign |
Het |
| Rln1 |
G |
T |
19: 29,309,521 (GRCm39) |
T86K |
probably benign |
Het |
| Rnf213 |
G |
A |
11: 119,370,746 (GRCm39) |
A4785T |
possibly damaging |
Het |
| Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Sh3tc2 |
T |
C |
18: 62,148,111 (GRCm39) |
C1274R |
probably benign |
Het |
| Slc35a5 |
A |
T |
16: 44,964,280 (GRCm39) |
F318I |
probably damaging |
Het |
| Socs4 |
T |
A |
14: 47,527,633 (GRCm39) |
N189K |
probably benign |
Het |
| Tiam2 |
A |
T |
17: 3,557,148 (GRCm39) |
E1196V |
probably damaging |
Het |
| Tmc3 |
T |
A |
7: 83,246,751 (GRCm39) |
V164D |
probably damaging |
Het |
| Trim46 |
T |
C |
3: 89,142,549 (GRCm39) |
E623G |
possibly damaging |
Het |
| Ubr4 |
C |
A |
4: 139,180,030 (GRCm39) |
C3403* |
probably null |
Het |
| Vmn1r194 |
A |
T |
13: 22,428,694 (GRCm39) |
T104S |
probably benign |
Het |
| Vmn2r112 |
A |
T |
17: 22,837,467 (GRCm39) |
I643F |
probably damaging |
Het |
| Zfp1002 |
T |
C |
2: 150,097,097 (GRCm39) |
I111V |
probably benign |
Het |
| Zmynd11 |
T |
G |
13: 9,763,057 (GRCm39) |
S95R |
probably benign |
Het |
| Zswim4 |
C |
A |
8: 84,957,543 (GRCm39) |
R175L |
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 |
|
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 |
|
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'- ACTCTCAGAGACCCACTGTG -3'
(R):5'- TATCTTCTCACCAGCACGAC -3'
Sequencing Primer
(F):5'- ACTGTGGCACTTCCTGGAAAG -3'
(R):5'- ACGACTGGTGCTGGATCC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation