Incidental Mutation 'R4159:Slc39a6'
ID |
315680 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc39a6
|
Ensembl Gene |
ENSMUSG00000024270 |
Gene Name |
solute carrier family 39 (metal ion transporter), member 6 |
Synonyms |
Ermelin, Zip6 |
MMRRC Submission |
041002-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.641)
|
Stock # |
R4159 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
24712938-24736874 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 24730885 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 362
(V362A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000064667
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070726]
[ENSMUST00000152504]
[ENSMUST00000154205]
|
AlphaFold |
Q8C145 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000070726
AA Change: V362A
PolyPhen 2
Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000064667 Gene: ENSMUSG00000024270 AA Change: V362A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
low complexity region
|
94 |
141 |
N/A |
INTRINSIC |
low complexity region
|
187 |
198 |
N/A |
INTRINSIC |
Pfam:Zip
|
332 |
753 |
3e-104 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128106
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152504
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154205
AA Change: V78A
PolyPhen 2
Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000122151 Gene: ENSMUSG00000024270 AA Change: V78A
Domain | Start | End | E-Value | Type |
Pfam:Zip
|
48 |
433 |
2e-94 |
PFAM |
|
Meta Mutation Damage Score |
0.1951 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
96% (45/47) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A6 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM, Mar 2008] PHENOTYPE: Mice homozygous for a null allele do not display any gross skin abnormalities. [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 |
Adam4 |
T |
G |
12: 81,466,806 (GRCm39) |
D605A |
probably damaging |
Het |
Adcy1 |
A |
G |
11: 7,013,889 (GRCm39) |
H97R |
probably damaging |
Het |
Amdhd1 |
A |
G |
10: 93,370,512 (GRCm39) |
Y109H |
probably damaging |
Het |
Ankhd1 |
A |
G |
18: 36,722,593 (GRCm39) |
N372S |
possibly damaging |
Het |
Aoc2 |
G |
A |
11: 101,216,122 (GRCm39) |
M68I |
probably damaging |
Het |
Aspscr1 |
G |
A |
11: 120,599,502 (GRCm39) |
A377T |
probably damaging |
Het |
Bltp1 |
T |
A |
3: 36,985,232 (GRCm39) |
M854K |
probably benign |
Het |
Bltp3a |
A |
G |
17: 28,103,061 (GRCm39) |
Y365C |
probably damaging |
Het |
Cacnb1 |
G |
C |
11: 97,903,100 (GRCm39) |
C154W |
probably damaging |
Het |
Ccdc186 |
G |
A |
19: 56,781,924 (GRCm39) |
R27* |
probably null |
Het |
Clnk |
C |
A |
5: 38,899,138 (GRCm39) |
|
probably benign |
Het |
Dse |
A |
G |
10: 34,029,330 (GRCm39) |
F587L |
probably damaging |
Het |
Fut8 |
T |
C |
12: 77,440,523 (GRCm39) |
L170P |
probably damaging |
Het |
G3bp2 |
T |
C |
5: 92,212,260 (GRCm39) |
H217R |
probably benign |
Het |
Gm19345 |
G |
A |
7: 19,588,886 (GRCm39) |
|
probably benign |
Het |
Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
Kcne4 |
A |
G |
1: 78,795,819 (GRCm39) |
N156D |
probably benign |
Het |
Met |
G |
T |
6: 17,562,271 (GRCm39) |
|
probably null |
Het |
Mfsd3 |
T |
C |
15: 76,585,945 (GRCm39) |
L26P |
probably damaging |
Het |
Oasl1 |
A |
G |
5: 115,075,073 (GRCm39) |
K378E |
possibly damaging |
Het |
Pde8a |
A |
G |
7: 80,970,407 (GRCm39) |
I510V |
probably benign |
Het |
Pds5a |
T |
C |
5: 65,821,839 (GRCm39) |
T120A |
possibly damaging |
Het |
Phf8-ps |
G |
A |
17: 33,285,023 (GRCm39) |
T593I |
probably benign |
Het |
Phkb |
T |
A |
8: 86,748,162 (GRCm39) |
|
probably null |
Het |
Ptprz1 |
A |
T |
6: 23,001,683 (GRCm39) |
K1258* |
probably null |
Het |
Senp7 |
C |
A |
16: 55,973,832 (GRCm39) |
P351Q |
possibly damaging |
Het |
Slc15a5 |
G |
T |
6: 138,049,938 (GRCm39) |
T159K |
possibly damaging |
Het |
Spef2 |
A |
T |
15: 9,676,407 (GRCm39) |
D721E |
probably damaging |
Het |
Sting1 |
A |
T |
18: 35,872,272 (GRCm39) |
Y77N |
probably damaging |
Het |
Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
Tnxb |
A |
G |
17: 34,930,491 (GRCm39) |
T2059A |
probably damaging |
Het |
Ttll8 |
T |
C |
15: 88,801,444 (GRCm39) |
N415D |
probably benign |
Het |
Ube2d2a |
A |
T |
18: 35,903,577 (GRCm39) |
|
probably benign |
Het |
Unc79 |
A |
G |
12: 103,036,512 (GRCm39) |
|
probably benign |
Het |
Ush2a |
G |
A |
1: 188,460,907 (GRCm39) |
V2723M |
probably damaging |
Het |
Vmn2r102 |
T |
A |
17: 19,898,088 (GRCm39) |
C368S |
probably damaging |
Het |
Vmn2r3 |
G |
A |
3: 64,194,850 (GRCm39) |
Q23* |
probably null |
Het |
|
Other mutations in Slc39a6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00943:Slc39a6
|
APN |
18 |
24,722,802 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01412:Slc39a6
|
APN |
18 |
24,718,413 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02182:Slc39a6
|
APN |
18 |
24,734,347 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02332:Slc39a6
|
APN |
18 |
24,722,880 (GRCm39) |
missense |
probably benign |
0.22 |
IGL02648:Slc39a6
|
APN |
18 |
24,715,424 (GRCm39) |
missense |
probably damaging |
1.00 |
Lobar
|
UTSW |
18 |
24,729,386 (GRCm39) |
nonsense |
probably null |
|
R0066:Slc39a6
|
UTSW |
18 |
24,732,326 (GRCm39) |
missense |
probably damaging |
1.00 |
R0066:Slc39a6
|
UTSW |
18 |
24,732,326 (GRCm39) |
missense |
probably damaging |
1.00 |
R0729:Slc39a6
|
UTSW |
18 |
24,734,527 (GRCm39) |
missense |
probably benign |
0.00 |
R1128:Slc39a6
|
UTSW |
18 |
24,718,349 (GRCm39) |
missense |
probably damaging |
1.00 |
R1621:Slc39a6
|
UTSW |
18 |
24,733,946 (GRCm39) |
missense |
probably benign |
0.08 |
R1799:Slc39a6
|
UTSW |
18 |
24,718,524 (GRCm39) |
missense |
probably benign |
0.00 |
R1800:Slc39a6
|
UTSW |
18 |
24,718,259 (GRCm39) |
missense |
probably damaging |
1.00 |
R1885:Slc39a6
|
UTSW |
18 |
24,734,539 (GRCm39) |
splice site |
probably null |
|
R4809:Slc39a6
|
UTSW |
18 |
24,718,531 (GRCm39) |
nonsense |
probably null |
|
R4903:Slc39a6
|
UTSW |
18 |
24,730,925 (GRCm39) |
missense |
probably damaging |
1.00 |
R4994:Slc39a6
|
UTSW |
18 |
24,729,351 (GRCm39) |
missense |
probably damaging |
1.00 |
R5352:Slc39a6
|
UTSW |
18 |
24,734,093 (GRCm39) |
missense |
probably benign |
0.00 |
R5398:Slc39a6
|
UTSW |
18 |
24,730,936 (GRCm39) |
missense |
probably damaging |
1.00 |
R5832:Slc39a6
|
UTSW |
18 |
24,734,669 (GRCm39) |
missense |
possibly damaging |
0.81 |
R6182:Slc39a6
|
UTSW |
18 |
24,734,013 (GRCm39) |
missense |
probably benign |
0.16 |
R6853:Slc39a6
|
UTSW |
18 |
24,732,376 (GRCm39) |
missense |
possibly damaging |
0.71 |
R7226:Slc39a6
|
UTSW |
18 |
24,717,084 (GRCm39) |
missense |
probably damaging |
1.00 |
R7252:Slc39a6
|
UTSW |
18 |
24,734,442 (GRCm39) |
missense |
possibly damaging |
0.64 |
R7263:Slc39a6
|
UTSW |
18 |
24,734,260 (GRCm39) |
missense |
probably benign |
|
R7328:Slc39a6
|
UTSW |
18 |
24,733,987 (GRCm39) |
missense |
probably benign |
0.00 |
R7388:Slc39a6
|
UTSW |
18 |
24,717,106 (GRCm39) |
missense |
probably damaging |
1.00 |
R7395:Slc39a6
|
UTSW |
18 |
24,718,332 (GRCm39) |
missense |
probably damaging |
1.00 |
R8393:Slc39a6
|
UTSW |
18 |
24,732,331 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8695:Slc39a6
|
UTSW |
18 |
24,736,811 (GRCm39) |
unclassified |
probably benign |
|
R8889:Slc39a6
|
UTSW |
18 |
24,729,386 (GRCm39) |
nonsense |
probably null |
|
R8892:Slc39a6
|
UTSW |
18 |
24,729,386 (GRCm39) |
nonsense |
probably null |
|
R9172:Slc39a6
|
UTSW |
18 |
24,715,399 (GRCm39) |
missense |
probably damaging |
0.99 |
R9178:Slc39a6
|
UTSW |
18 |
24,733,970 (GRCm39) |
missense |
probably damaging |
0.99 |
R9215:Slc39a6
|
UTSW |
18 |
24,732,323 (GRCm39) |
missense |
probably benign |
0.04 |
R9349:Slc39a6
|
UTSW |
18 |
24,718,493 (GRCm39) |
missense |
probably benign |
|
X0065:Slc39a6
|
UTSW |
18 |
24,718,432 (GRCm39) |
missense |
possibly damaging |
0.95 |
Z1176:Slc39a6
|
UTSW |
18 |
24,718,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TAAATACCAACAGCAGGAGTCTGAG -3'
(R):5'- ATTACATGAGGGTGCCGTGG -3'
Sequencing Primer
(F):5'- GCGCAATGCCAATGCTC -3'
(R):5'- AAATTCAGCTGCTCTGCTTTACATG -3'
|
Posted On |
2015-05-14 |