Incidental Mutation 'R4287:Slc41a3'
| ID |
322061 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc41a3
|
| Ensembl Gene |
ENSMUSG00000030089 |
| Gene Name |
solute carrier family 41, member 3 |
| Synonyms |
1010001P06Rik, SLC41A1-L2 |
| MMRRC Submission |
041652-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4287 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
90581707-90623394 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 90617904 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 310
(H310L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037473
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032177]
[ENSMUST00000044019]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032177
AA Change: H284L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000032177
Gene: ENSMUSG00000030089
AA Change: H284L
| 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
AA Change: H310L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000037473
Gene: ENSMUSG00000030089
AA Change: H310L
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
98% (40/41) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc5 |
A |
G |
5: 122,938,664 (GRCm39) |
V362A |
probably benign |
Het |
| Ash1l |
T |
A |
3: 88,973,722 (GRCm39) |
C2594S |
probably damaging |
Het |
| Ccdc82 |
C |
A |
9: 13,253,043 (GRCm39) |
Q303K |
probably benign |
Het |
| Cog1 |
A |
G |
11: 113,544,853 (GRCm39) |
Y345C |
probably damaging |
Het |
| Fpgt |
T |
C |
3: 154,796,997 (GRCm39) |
|
probably benign |
Het |
| Glrb |
A |
T |
3: 80,752,539 (GRCm39) |
V408D |
possibly damaging |
Het |
| Gm7135 |
A |
G |
1: 97,328,123 (GRCm39) |
|
noncoding transcript |
Het |
| Il1rn |
T |
C |
2: 24,239,557 (GRCm39) |
L151P |
probably damaging |
Het |
| Itgav |
G |
T |
2: 83,555,184 (GRCm39) |
E36* |
probably null |
Het |
| Kidins220 |
G |
A |
12: 25,106,845 (GRCm39) |
E1433K |
possibly damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Klra3 |
A |
G |
6: 130,311,265 (GRCm39) |
C39R |
probably benign |
Het |
| Lce1i |
A |
G |
3: 92,684,742 (GRCm39) |
S145P |
unknown |
Het |
| Memo1 |
T |
C |
17: 74,562,293 (GRCm39) |
|
probably null |
Het |
| Mpp3 |
G |
A |
11: 101,914,289 (GRCm39) |
A102V |
probably damaging |
Het |
| Mug2 |
T |
A |
6: 122,040,632 (GRCm39) |
D727E |
probably benign |
Het |
| Ndufb8 |
T |
C |
19: 44,541,130 (GRCm39) |
I107V |
probably benign |
Het |
| Or5h18 |
A |
T |
16: 58,847,976 (GRCm39) |
M98K |
probably benign |
Het |
| Pnn |
C |
T |
12: 59,118,956 (GRCm39) |
T513I |
possibly damaging |
Het |
| Ric8a |
A |
G |
7: 140,441,335 (GRCm39) |
Y210C |
probably damaging |
Het |
| Ripor2 |
G |
A |
13: 24,908,992 (GRCm39) |
V1037M |
probably damaging |
Het |
| Rreb1 |
A |
T |
13: 38,115,907 (GRCm39) |
T1089S |
probably benign |
Het |
| Rrs1 |
C |
T |
1: 9,616,440 (GRCm39) |
S231L |
probably damaging |
Het |
| Rrs1 |
C |
T |
1: 9,616,448 (GRCm39) |
R234C |
possibly damaging |
Het |
| Sec23ip |
A |
G |
7: 128,379,057 (GRCm39) |
D838G |
probably benign |
Het |
| Setbp1 |
T |
C |
18: 78,902,276 (GRCm39) |
I464V |
probably benign |
Het |
| Slc25a51 |
C |
T |
4: 45,399,768 (GRCm39) |
V141M |
probably benign |
Het |
| Smurf1 |
A |
G |
5: 144,828,268 (GRCm39) |
S363P |
probably benign |
Het |
| Tln1 |
C |
T |
4: 43,543,509 (GRCm39) |
R1269Q |
probably benign |
Het |
| Tmed3 |
A |
G |
9: 89,586,951 (GRCm39) |
S10P |
probably benign |
Het |
| Tomm70a |
T |
G |
16: 56,960,985 (GRCm39) |
Y313D |
probably damaging |
Het |
| Umodl1 |
A |
G |
17: 31,207,039 (GRCm39) |
E810G |
probably benign |
Het |
| Unc5c |
T |
C |
3: 141,420,435 (GRCm39) |
I52T |
probably damaging |
Het |
| Unc5d |
T |
A |
8: 29,209,824 (GRCm39) |
Y432F |
probably benign |
Het |
| Vmn2r97 |
A |
T |
17: 19,168,337 (GRCm39) |
|
probably benign |
Het |
| Zfp629 |
T |
C |
7: 127,211,110 (GRCm39) |
Y233C |
probably damaging |
Het |
| Zfp986 |
T |
C |
4: 145,619,088 (GRCm39) |
|
probably null |
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 |
|
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'- AGCATAGCTACTGGTGGGAC -3'
(R):5'- TCAAGCCTAACAGAACCTGTAG -3'
Sequencing Primer
(F):5'- CACCATGTTCTCTGGTAGGAAACTG -3'
(R):5'- CCTAACAGAACCTGTAGGCTGTG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation