Incidental Mutation 'R8776:Slc41a3'
ID |
664696 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc41a3
|
Ensembl Gene |
ENSMUSG00000030089 |
Gene Name |
solute carrier family 41, member 3 |
Synonyms |
1010001P06Rik, SLC41A1-L2 |
MMRRC Submission |
068629-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8776 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
90581707-90623394 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 90621165 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 402
(T402S)
|
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: T376S
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000032177 Gene: ENSMUSG00000030089 AA Change: T376S
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: T402S
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000037473 Gene: ENSMUSG00000030089 AA Change: T402S
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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
Validation Efficiency |
100% (42/42) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930568D16Rik |
A |
G |
2: 35,245,002 (GRCm39) |
Y117H |
probably benign |
Het |
a |
A |
G |
2: 154,892,612 (GRCm39) |
D97G |
probably damaging |
Het |
Cdca7l |
T |
C |
12: 117,836,098 (GRCm39) |
S190P |
probably damaging |
Het |
Chst9 |
T |
A |
18: 15,586,086 (GRCm39) |
Y159F |
possibly damaging |
Het |
Col26a1 |
G |
A |
5: 136,911,708 (GRCm39) |
R52C |
probably damaging |
Het |
Dchs2 |
A |
T |
3: 83,263,701 (GRCm39) |
D3323V |
possibly damaging |
Het |
Dennd11 |
T |
C |
6: 40,395,775 (GRCm39) |
|
probably benign |
Het |
Dqx1 |
T |
A |
6: 83,035,619 (GRCm39) |
I44N |
probably damaging |
Het |
Edc4 |
A |
G |
8: 106,613,992 (GRCm39) |
D415G |
probably damaging |
Het |
Enpp3 |
T |
A |
10: 24,650,733 (GRCm39) |
D801V |
probably damaging |
Het |
Fam13b |
G |
A |
18: 34,584,446 (GRCm39) |
R573C |
probably damaging |
Het |
Fgfr2 |
A |
T |
7: 129,798,002 (GRCm39) |
I415N |
possibly damaging |
Het |
Gm32742 |
T |
A |
9: 51,067,230 (GRCm39) |
M366L |
probably benign |
Het |
Gm49336 |
A |
T |
14: 60,457,515 (GRCm39) |
S563T |
possibly damaging |
Het |
Gm5475 |
T |
C |
15: 100,324,892 (GRCm39) |
F107L |
unknown |
Het |
Lamp3 |
T |
C |
16: 19,474,252 (GRCm39) |
D374G |
probably damaging |
Het |
Lin9 |
T |
C |
1: 180,496,450 (GRCm39) |
|
probably null |
Het |
Mef2d |
T |
C |
3: 88,074,956 (GRCm39) |
S381P |
probably benign |
Het |
Mfsd9 |
A |
G |
1: 40,812,915 (GRCm39) |
*467Q |
probably null |
Het |
Mpo |
A |
G |
11: 87,693,538 (GRCm39) |
I639V |
possibly damaging |
Het |
Mrgprh |
T |
C |
17: 13,096,375 (GRCm39) |
I205T |
probably benign |
Het |
Ncapd2 |
T |
C |
6: 125,154,476 (GRCm39) |
D580G |
probably benign |
Het |
Nkain4 |
T |
A |
2: 180,585,920 (GRCm39) |
I48F |
probably damaging |
Het |
Notch4 |
C |
A |
17: 34,806,579 (GRCm39) |
R1839S |
probably damaging |
Het |
Nr6a1 |
A |
G |
2: 38,650,244 (GRCm39) |
Y129H |
probably damaging |
Het |
Nras |
T |
C |
3: 102,966,176 (GRCm39) |
|
probably benign |
Het |
Or7g19 |
T |
A |
9: 18,856,286 (GRCm39) |
I114N |
possibly damaging |
Het |
Robo1 |
G |
T |
16: 72,821,141 (GRCm39) |
E1294* |
probably null |
Het |
Septin8 |
A |
G |
11: 53,428,343 (GRCm39) |
K331R |
probably benign |
Het |
Shmt2 |
A |
G |
10: 127,356,785 (GRCm39) |
|
probably null |
Het |
Skint6 |
A |
C |
4: 112,661,885 (GRCm39) |
L1233R |
possibly damaging |
Het |
Slc9a2 |
A |
G |
1: 40,781,889 (GRCm39) |
T373A |
probably damaging |
Het |
Spata31d1b |
T |
C |
13: 59,863,283 (GRCm39) |
C144R |
probably benign |
Het |
Syne1 |
A |
G |
10: 5,181,783 (GRCm39) |
V4184A |
possibly damaging |
Het |
Tenm4 |
G |
A |
7: 96,544,239 (GRCm39) |
R2122H |
probably damaging |
Het |
Tlnrd1 |
A |
T |
7: 83,532,316 (GRCm39) |
D38E |
probably benign |
Het |
Tnnc2 |
C |
T |
2: 164,620,135 (GRCm39) |
A6T |
probably benign |
Het |
Usp9y |
A |
G |
Y: 1,356,320 (GRCm39) |
V1127A |
probably benign |
Het |
Ylpm1 |
T |
C |
12: 85,077,195 (GRCm39) |
Y1307H |
probably damaging |
Het |
Zfp266 |
T |
C |
9: 20,411,509 (GRCm39) |
S223G |
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 |
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-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'- ATAGAGTGTGCCGCATCATAG -3'
(R):5'- ACTGGCCTTGAGCATGTTGG -3'
Sequencing Primer
(F):5'- GCCGCATCATAGGTGTTAGTAG -3'
(R):5'- GCTGAATCTTCGTATGATGGGACC -3'
|
Posted On |
2021-03-08 |