Incidental Mutation 'R6669:Slc30a10'
ID |
528045 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc30a10
|
Ensembl Gene |
ENSMUSG00000026614 |
Gene Name |
solute carrier family 30, member 10 |
Synonyms |
E130106K10Rik |
MMRRC Submission |
044789-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.082)
|
Stock # |
R6669 (G1)
|
Quality Score |
207.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
185187045-185200959 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 185196625 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 429
(R429Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000053181
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061093]
|
AlphaFold |
Q3UVU3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000061093
AA Change: R429Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000053181 Gene: ENSMUSG00000026614 AA Change: R429Q
Domain | Start | End | E-Value | Type |
Pfam:Cation_efflux
|
11 |
299 |
2e-44 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.5%
|
Validation Efficiency |
97% (33/34) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is highly expressed in the liver and is inducible by manganese. Its protein product appears to be critical in maintaining manganese levels, and has higher specificity for manganese than zinc. Loss of function mutations appear to result in a pleomorphic phenotype, including dystonia and adult-onset parkinsonism. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Mar 2012] PHENOTYPE: Mice homozygous for a knock-out allele exhibit post-weaning growth defects, increased manganese levels in the brain, blood, liver and thyroid gland, severe hypothyroidism and premature death. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ascc3 |
A |
G |
10: 50,716,469 (GRCm39) |
I1952V |
probably benign |
Het |
Atg2b |
T |
C |
12: 105,637,788 (GRCm39) |
E142G |
possibly damaging |
Het |
Bbc3 |
G |
T |
7: 16,047,641 (GRCm39) |
A122S |
possibly damaging |
Het |
Cenpu |
T |
C |
8: 47,029,319 (GRCm39) |
S191P |
probably damaging |
Het |
Clic3 |
G |
T |
2: 25,347,779 (GRCm39) |
R48L |
possibly damaging |
Het |
Cmya5 |
T |
C |
13: 93,229,767 (GRCm39) |
K1774E |
probably benign |
Het |
Cnst |
T |
A |
1: 179,432,638 (GRCm39) |
|
probably null |
Het |
Cyfip1 |
T |
A |
7: 55,549,809 (GRCm39) |
S657T |
probably damaging |
Het |
Dock10 |
T |
C |
1: 80,570,572 (GRCm39) |
Y322C |
probably damaging |
Het |
Epn2 |
C |
T |
11: 61,410,384 (GRCm39) |
V550I |
probably benign |
Het |
Evc2 |
C |
T |
5: 37,535,722 (GRCm39) |
P466S |
possibly damaging |
Het |
Fancd2 |
C |
T |
6: 113,570,288 (GRCm39) |
T1413I |
probably benign |
Het |
Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
Herc4 |
T |
A |
10: 63,121,847 (GRCm39) |
W400R |
probably benign |
Het |
Kcna7 |
T |
C |
7: 45,058,988 (GRCm39) |
V425A |
probably damaging |
Het |
Klhl3 |
A |
T |
13: 58,158,966 (GRCm39) |
D564E |
probably benign |
Het |
Man2b2 |
T |
C |
5: 36,967,702 (GRCm39) |
I889V |
probably benign |
Het |
Mcm3ap |
A |
G |
10: 76,343,171 (GRCm39) |
I1688V |
probably damaging |
Het |
Mocos |
T |
A |
18: 24,799,467 (GRCm39) |
F234I |
probably damaging |
Het |
Muc20 |
T |
C |
16: 32,614,307 (GRCm39) |
T357A |
possibly damaging |
Het |
Ncoa6 |
T |
G |
2: 155,241,613 (GRCm39) |
|
probably null |
Het |
Nlk |
C |
A |
11: 78,477,892 (GRCm39) |
G284* |
probably null |
Het |
Nrxn1 |
T |
A |
17: 90,366,991 (GRCm39) |
T12S |
probably damaging |
Het |
Nrxn2 |
A |
G |
19: 6,531,221 (GRCm39) |
Y627C |
probably damaging |
Het |
Ntn1 |
T |
C |
11: 68,276,576 (GRCm39) |
N124S |
probably benign |
Het |
Pdzd7 |
T |
A |
19: 45,025,190 (GRCm39) |
Q435L |
possibly damaging |
Het |
Rsf1 |
GCGGCGGCG |
GCGGCGGCGTCGGCGGCG |
7: 97,229,132 (GRCm39) |
|
probably benign |
Het |
Tox4 |
T |
C |
14: 52,524,213 (GRCm39) |
Y116H |
probably damaging |
Het |
Trpv5 |
G |
A |
6: 41,634,976 (GRCm39) |
A451V |
probably damaging |
Het |
Ube3a |
T |
C |
7: 58,926,605 (GRCm39) |
V482A |
probably benign |
Het |
Vcan |
A |
T |
13: 89,852,850 (GRCm39) |
D703E |
probably benign |
Het |
Xirp2 |
C |
A |
2: 67,343,699 (GRCm39) |
A1980E |
possibly damaging |
Het |
Xrcc1 |
T |
C |
7: 24,246,762 (GRCm39) |
V10A |
probably damaging |
Het |
|
Other mutations in Slc30a10 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01485:Slc30a10
|
APN |
1 |
185,187,616 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01779:Slc30a10
|
APN |
1 |
185,196,376 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL01906:Slc30a10
|
APN |
1 |
185,188,593 (GRCm39) |
nonsense |
probably null |
|
IGL02024:Slc30a10
|
APN |
1 |
185,187,438 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0111:Slc30a10
|
UTSW |
1 |
185,187,744 (GRCm39) |
missense |
probably benign |
|
R0133:Slc30a10
|
UTSW |
1 |
185,187,370 (GRCm39) |
missense |
probably damaging |
1.00 |
R1886:Slc30a10
|
UTSW |
1 |
185,195,061 (GRCm39) |
missense |
probably damaging |
1.00 |
R3915:Slc30a10
|
UTSW |
1 |
185,187,333 (GRCm39) |
nonsense |
probably null |
|
R5597:Slc30a10
|
UTSW |
1 |
185,194,897 (GRCm39) |
missense |
probably damaging |
1.00 |
R6175:Slc30a10
|
UTSW |
1 |
185,187,508 (GRCm39) |
missense |
probably damaging |
1.00 |
R8108:Slc30a10
|
UTSW |
1 |
185,196,351 (GRCm39) |
missense |
possibly damaging |
0.90 |
R8345:Slc30a10
|
UTSW |
1 |
185,187,664 (GRCm39) |
missense |
probably benign |
0.19 |
R9193:Slc30a10
|
UTSW |
1 |
185,195,034 (GRCm39) |
missense |
probably damaging |
1.00 |
R9227:Slc30a10
|
UTSW |
1 |
185,187,391 (GRCm39) |
missense |
probably damaging |
0.99 |
R9228:Slc30a10
|
UTSW |
1 |
185,187,391 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- CGAGAGATCTTCCACCATGC -3'
(R):5'- ATAAGCAGAGCTGGTGACACC -3'
Sequencing Primer
(F):5'- TGCTGGAATCCACAACGTG -3'
(R):5'- CACCAAAGTGTCTGTTCAGAC -3'
|
Posted On |
2018-07-24 |