Incidental Mutation 'R2286:Slc39a5'
| ID |
243306 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc39a5
|
| Ensembl Gene |
ENSMUSG00000039878 |
| Gene Name |
solute carrier family 39 (metal ion transporter), member 5 |
| Synonyms |
1810013D05Rik, 2010205A06Rik, Zip5 |
| MMRRC Submission |
040285-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2286 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
128231800-128237098 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 128231929 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 532
(V532A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131736
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014642]
[ENSMUST00000042666]
[ENSMUST00000167859]
[ENSMUST00000218858]
[ENSMUST00000219131]
|
| AlphaFold |
Q9D856 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000014642
|
| SMART Domains |
Protein: ENSMUSP00000014642
Gene: ENSMUSG00000014498
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
7 |
36 |
4.44e2 |
SMART |
|
ANK
|
40 |
69 |
6.55e-5 |
SMART |
|
ANK
|
73 |
102 |
1.03e-2 |
SMART |
|
ANK
|
106 |
135 |
1.5e1 |
SMART |
|
ANK
|
139 |
168 |
5.49e-7 |
SMART |
|
ANK
|
172 |
201 |
3.01e-4 |
SMART |
|
ANK
|
205 |
234 |
1.2e-3 |
SMART |
|
ANK
|
238 |
267 |
2.62e-4 |
SMART |
|
ANK
|
271 |
301 |
9.78e-4 |
SMART |
|
ANK
|
305 |
334 |
3.85e-2 |
SMART |
|
ANK
|
338 |
367 |
5.62e-4 |
SMART |
|
ANK
|
371 |
402 |
1.55e2 |
SMART |
|
ANK
|
422 |
451 |
2.16e-5 |
SMART |
|
ANK
|
455 |
484 |
3.28e-5 |
SMART |
|
ANK
|
488 |
545 |
2.79e1 |
SMART |
|
ANK
|
549 |
578 |
5.45e-2 |
SMART |
|
ANK
|
584 |
613 |
1.84e1 |
SMART |
|
ANK
|
617 |
646 |
3.85e-2 |
SMART |
|
ANK
|
651 |
682 |
2.1e-3 |
SMART |
|
ANK
|
687 |
716 |
6.76e-7 |
SMART |
|
ANK
|
720 |
749 |
1.07e0 |
SMART |
|
ANK
|
753 |
784 |
2.92e-2 |
SMART |
|
ANK
|
790 |
819 |
1.12e-3 |
SMART |
|
ANK
|
822 |
853 |
9.75e1 |
SMART |
|
ANK
|
857 |
886 |
1.99e-4 |
SMART |
|
ANK
|
890 |
920 |
5.09e-2 |
SMART |
|
ANK
|
924 |
953 |
2.54e-2 |
SMART |
|
ANK
|
960 |
989 |
1.34e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042666
AA Change: V532A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000037753
Gene: ENSMUSG00000039878
AA Change: V532A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
50 |
61 |
N/A |
INTRINSIC |
|
low complexity region
|
64 |
75 |
N/A |
INTRINSIC |
|
low complexity region
|
133 |
152 |
N/A |
INTRINSIC |
|
Pfam:Zip
|
208 |
522 |
2.3e-72 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166577
|
| SMART Domains |
Protein: ENSMUSP00000128794
Gene: ENSMUSG00000014498
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
18 |
48 |
5.09e-2 |
SMART |
|
ANK
|
52 |
81 |
2.54e-2 |
SMART |
|
ANK
|
88 |
117 |
1.34e-1 |
SMART |
|
Blast:ANK
|
121 |
148 |
3e-9 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167226
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167859
AA Change: V532A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000131736
Gene: ENSMUSG00000039878
AA Change: V532A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
50 |
61 |
N/A |
INTRINSIC |
|
low complexity region
|
64 |
75 |
N/A |
INTRINSIC |
|
low complexity region
|
133 |
152 |
N/A |
INTRINSIC |
|
Pfam:Zip
|
208 |
522 |
3.2e-73 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218858
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219131
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219222
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the ZIP family of zinc transporters that transport zinc into cells from outside, and play a crucial role in controlling intracellular zinc levels. Zinc is an essential cofactor for many enzymes and proteins involved in gene transcription, growth, development and differentiation. Mutations in this gene have been associated with autosomal dominant high myopia (MYP24). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit altered zinc homeostasis and increased susceptibility to zinc-induced pancretitis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
C |
T |
5: 8,195,616 (GRCm39) |
R308H |
probably damaging |
Het |
| Alox5ap |
G |
A |
5: 149,222,240 (GRCm39) |
|
probably null |
Het |
| Ap2s1 |
T |
C |
7: 16,482,901 (GRCm39) |
V131A |
possibly damaging |
Het |
| Cdr2l |
GAA |
GA |
11: 115,283,626 (GRCm39) |
|
probably null |
Het |
| Cpsf7 |
T |
C |
19: 10,512,660 (GRCm39) |
L248P |
probably damaging |
Het |
| Dtd1 |
T |
C |
2: 144,477,786 (GRCm39) |
|
probably null |
Het |
| Eci1 |
A |
G |
17: 24,652,203 (GRCm39) |
D75G |
probably damaging |
Het |
| Kremen1 |
CGGG |
CGGGGGG |
11: 5,151,791 (GRCm39) |
|
probably benign |
Het |
| Luc7l |
A |
G |
17: 26,499,020 (GRCm39) |
|
probably benign |
Het |
| Med13 |
A |
C |
11: 86,210,515 (GRCm39) |
D542E |
probably benign |
Het |
| Myo6 |
T |
C |
9: 80,173,494 (GRCm39) |
S545P |
possibly damaging |
Het |
| Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
| Or4k37 |
A |
G |
2: 111,159,252 (GRCm39) |
I163V |
probably benign |
Het |
| Rsad2 |
T |
A |
12: 26,500,675 (GRCm39) |
N204I |
probably benign |
Het |
| Setd5 |
T |
G |
6: 113,096,571 (GRCm39) |
N592K |
possibly damaging |
Het |
| Sgip1 |
G |
T |
4: 102,724,844 (GRCm39) |
S59I |
possibly damaging |
Het |
| Smarcc2 |
G |
A |
10: 128,299,612 (GRCm39) |
M123I |
possibly damaging |
Het |
| Tdrd1 |
A |
G |
19: 56,827,551 (GRCm39) |
T185A |
probably benign |
Het |
| Tnn |
T |
C |
1: 159,938,079 (GRCm39) |
E1146G |
possibly damaging |
Het |
| Unc13a |
T |
C |
8: 72,083,203 (GRCm39) |
K1618E |
probably damaging |
Het |
| Vmn2r120 |
A |
G |
17: 57,815,958 (GRCm39) |
L799P |
probably damaging |
Het |
| Vps26c |
C |
T |
16: 94,313,112 (GRCm39) |
E60K |
possibly damaging |
Het |
|
| Other mutations in Slc39a5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02535:Slc39a5
|
APN |
10 |
128,235,199 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02666:Slc39a5
|
APN |
10 |
128,234,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0305:Slc39a5
|
UTSW |
10 |
128,234,265 (GRCm39) |
unclassified |
probably benign |
|
|
R0350:Slc39a5
|
UTSW |
10 |
128,232,619 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0437:Slc39a5
|
UTSW |
10 |
128,235,716 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1401:Slc39a5
|
UTSW |
10 |
128,233,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2025:Slc39a5
|
UTSW |
10 |
128,234,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2025:Slc39a5
|
UTSW |
10 |
128,234,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4041:Slc39a5
|
UTSW |
10 |
128,232,337 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4649:Slc39a5
|
UTSW |
10 |
128,233,136 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4776:Slc39a5
|
UTSW |
10 |
128,232,918 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4890:Slc39a5
|
UTSW |
10 |
128,234,316 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5911:Slc39a5
|
UTSW |
10 |
128,235,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6703:Slc39a5
|
UTSW |
10 |
128,233,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8428:Slc39a5
|
UTSW |
10 |
128,232,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8997:Slc39a5
|
UTSW |
10 |
128,232,348 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9487:Slc39a5
|
UTSW |
10 |
128,233,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9488:Slc39a5
|
UTSW |
10 |
128,233,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAACCTGCTTTGAGCCCTC -3'
(R):5'- AGGTCTTGCCTCAAACGTAG -3'
Sequencing Primer
(F):5'- ACCACACCCCGGTTTTCTATG -3'
(R):5'- GTCTTGCCTCAAACGTAGGTAAATAG -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation