Incidental Mutation 'R9431:Slc39a8'
ID |
712944 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc39a8
|
Ensembl Gene |
ENSMUSG00000053897 |
Gene Name |
solute carrier family 39 (metal ion transporter), member 8 |
Synonyms |
ZIP8, BIGM103, 4933419D20Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9431 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
135531040-135594333 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 135563923 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 256
(V256A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029810
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029810]
[ENSMUST00000081978]
[ENSMUST00000167390]
[ENSMUST00000180196]
|
AlphaFold |
Q91W10 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029810
AA Change: V256A
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000029810 Gene: ENSMUSG00000053897 AA Change: V256A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
Pfam:Zip
|
126 |
453 |
6.2e-76 |
PFAM |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000080640 Gene: ENSMUSG00000053897 AA Change: V256A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
Pfam:Zip
|
126 |
453 |
4.7e-72 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167390
AA Change: V256A
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000128245 Gene: ENSMUSG00000053897 AA Change: V256A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
Pfam:Zip
|
126 |
453 |
4.7e-72 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000180196
AA Change: V256A
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000136634 Gene: ENSMUSG00000053897 AA Change: V256A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
Pfam:Zip
|
126 |
453 |
4.7e-72 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SLC39 family of solute-carrier genes, which show structural characteristics of zinc transporters. The encoded protein is glycosylated and found in the plasma membrane and mitochondria, and functions in the cellular import of zinc at the onset of inflammation. It is also thought to be the primary transporter of the toxic cation cadmium, which is found in cigarette smoke. Multiple transcript variants encoding different isoforms have been found for this gene. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Oct 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310003L06Rik |
A |
C |
5: 88,120,325 (GRCm39) |
I361L |
possibly damaging |
Het |
Aebp2 |
C |
T |
6: 140,592,594 (GRCm39) |
P446L |
probably damaging |
Het |
Arhgap32 |
C |
A |
9: 32,170,463 (GRCm39) |
A1081D |
probably damaging |
Het |
Btbd16 |
C |
T |
7: 130,417,516 (GRCm39) |
R344C |
probably damaging |
Het |
Cdc73 |
T |
A |
1: 143,545,740 (GRCm39) |
K299* |
probably null |
Het |
Cpq |
C |
T |
15: 33,250,078 (GRCm39) |
T145I |
probably benign |
Het |
Creb1 |
C |
A |
1: 64,615,413 (GRCm39) |
A215E |
probably damaging |
Het |
D630045J12Rik |
G |
T |
6: 38,173,814 (GRCm39) |
A118E |
probably benign |
Het |
Dnah7a |
A |
T |
1: 53,450,812 (GRCm39) |
F3873I |
possibly damaging |
Het |
Dock10 |
T |
C |
1: 80,583,593 (GRCm39) |
Y203C |
probably damaging |
Het |
Evi5 |
A |
G |
5: 107,990,150 (GRCm39) |
V23A |
probably damaging |
Het |
Fat2 |
T |
C |
11: 55,142,838 (GRCm39) |
D4337G |
probably damaging |
Het |
Fbxl17 |
G |
A |
17: 63,387,489 (GRCm39) |
T631I |
probably damaging |
Het |
Fktn |
G |
A |
4: 53,734,854 (GRCm39) |
G125D |
probably benign |
Het |
Focad |
A |
G |
4: 88,321,583 (GRCm39) |
M1559V |
unknown |
Het |
Fras1 |
A |
T |
5: 96,900,873 (GRCm39) |
I3031L |
possibly damaging |
Het |
Gnas |
T |
C |
2: 174,139,826 (GRCm39) |
S58P |
unknown |
Het |
Hdac9 |
G |
A |
12: 34,440,327 (GRCm39) |
Q351* |
probably null |
Het |
Ibsp |
A |
T |
5: 104,457,167 (GRCm39) |
N92I |
probably damaging |
Het |
Kank1 |
C |
A |
19: 25,387,866 (GRCm39) |
T513N |
probably damaging |
Het |
Kcnh1 |
A |
G |
1: 192,101,123 (GRCm39) |
T599A |
probably benign |
Het |
Kdm5a |
T |
A |
6: 120,392,253 (GRCm39) |
L992M |
probably damaging |
Het |
Lipc |
T |
C |
9: 70,723,889 (GRCm39) |
Y245C |
probably damaging |
Het |
Mdfic2 |
T |
C |
6: 98,215,164 (GRCm39) |
H153R |
probably benign |
Het |
Morc3 |
C |
A |
16: 93,667,771 (GRCm39) |
Y716* |
probably null |
Het |
Mroh2b |
A |
T |
15: 4,963,952 (GRCm39) |
D848V |
probably damaging |
Het |
Or13c7e-ps1 |
A |
C |
4: 43,781,682 (GRCm39) |
I216S |
possibly damaging |
Het |
Or2d2b |
T |
A |
7: 106,705,336 (GRCm39) |
H244L |
probably damaging |
Het |
Or2y1b |
A |
G |
11: 49,208,459 (GRCm39) |
I29V |
probably benign |
Het |
Or5h27 |
A |
G |
16: 59,006,090 (GRCm39) |
V252A |
unknown |
Het |
Or6ae1 |
T |
A |
7: 139,741,942 (GRCm39) |
Q307L |
probably benign |
Het |
Patl1 |
A |
G |
19: 11,898,815 (GRCm39) |
E170G |
probably damaging |
Het |
Rad17 |
A |
G |
13: 100,780,074 (GRCm39) |
V112A |
probably damaging |
Het |
Rigi |
A |
G |
4: 40,229,545 (GRCm39) |
S125P |
probably benign |
Het |
Sertad2 |
A |
T |
11: 20,598,425 (GRCm39) |
E207V |
probably benign |
Het |
Slc12a5 |
T |
C |
2: 164,832,178 (GRCm39) |
V699A |
possibly damaging |
Het |
Slc13a4 |
A |
G |
6: 35,278,742 (GRCm39) |
V49A |
probably damaging |
Het |
Slc22a6 |
A |
G |
19: 8,598,596 (GRCm39) |
T218A |
probably benign |
Het |
Slc30a9 |
A |
G |
5: 67,505,278 (GRCm39) |
D422G |
probably damaging |
Het |
Slc37a3 |
T |
C |
6: 39,324,363 (GRCm39) |
Y295C |
possibly damaging |
Het |
Slc45a2 |
G |
A |
15: 11,026,005 (GRCm39) |
E452K |
possibly damaging |
Het |
Slc4a11 |
C |
T |
2: 130,533,664 (GRCm39) |
A100T |
probably damaging |
Het |
Slc7a12 |
G |
A |
3: 14,546,035 (GRCm39) |
C60Y |
probably damaging |
Het |
St8sia3 |
T |
A |
18: 64,398,640 (GRCm39) |
L33Q |
probably damaging |
Het |
Tiam1 |
A |
G |
16: 89,594,918 (GRCm39) |
|
probably null |
Het |
Trim37 |
T |
A |
11: 87,077,257 (GRCm39) |
V529E |
probably benign |
Het |
Trpv3 |
A |
T |
11: 73,178,225 (GRCm39) |
T431S |
probably benign |
Het |
Tsc22d1 |
TCAGCAGCAGCAGCAGCAGCAGCAGCA |
TCAGCAGCAGCAGCAGCAGCAGCA |
14: 76,654,707 (GRCm39) |
|
probably benign |
Het |
Ttn |
C |
T |
2: 76,544,679 (GRCm39) |
V32808M |
probably damaging |
Het |
Vmn2r27 |
T |
C |
6: 124,168,856 (GRCm39) |
Y758C |
probably damaging |
Het |
Vwa5b2 |
C |
T |
16: 20,423,046 (GRCm39) |
P1015S |
probably benign |
Het |
Whamm |
A |
G |
7: 81,236,035 (GRCm39) |
R413G |
probably damaging |
Het |
Zbtb41 |
C |
T |
1: 139,350,781 (GRCm39) |
|
probably benign |
Het |
Zfp119b |
A |
G |
17: 56,246,536 (GRCm39) |
S217P |
possibly damaging |
Het |
|
Other mutations in Slc39a8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00661:Slc39a8
|
APN |
3 |
135,563,873 (GRCm39) |
missense |
probably benign |
|
IGL00793:Slc39a8
|
APN |
3 |
135,590,494 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02591:Slc39a8
|
APN |
3 |
135,590,381 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02868:Slc39a8
|
APN |
3 |
135,561,787 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03062:Slc39a8
|
APN |
3 |
135,592,558 (GRCm39) |
splice site |
probably benign |
|
IGL03144:Slc39a8
|
APN |
3 |
135,589,971 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03329:Slc39a8
|
APN |
3 |
135,590,474 (GRCm39) |
missense |
probably damaging |
0.98 |
R1449:Slc39a8
|
UTSW |
3 |
135,532,446 (GRCm39) |
missense |
probably benign |
0.41 |
R2869:Slc39a8
|
UTSW |
3 |
135,592,554 (GRCm39) |
splice site |
probably null |
|
R2869:Slc39a8
|
UTSW |
3 |
135,592,554 (GRCm39) |
splice site |
probably null |
|
R2870:Slc39a8
|
UTSW |
3 |
135,592,554 (GRCm39) |
splice site |
probably null |
|
R2870:Slc39a8
|
UTSW |
3 |
135,592,554 (GRCm39) |
splice site |
probably null |
|
R2871:Slc39a8
|
UTSW |
3 |
135,592,554 (GRCm39) |
splice site |
probably null |
|
R2871:Slc39a8
|
UTSW |
3 |
135,592,554 (GRCm39) |
splice site |
probably null |
|
R2872:Slc39a8
|
UTSW |
3 |
135,592,554 (GRCm39) |
splice site |
probably null |
|
R2872:Slc39a8
|
UTSW |
3 |
135,592,554 (GRCm39) |
splice site |
probably null |
|
R2873:Slc39a8
|
UTSW |
3 |
135,592,554 (GRCm39) |
splice site |
probably null |
|
R2937:Slc39a8
|
UTSW |
3 |
135,592,584 (GRCm39) |
missense |
probably benign |
0.00 |
R3832:Slc39a8
|
UTSW |
3 |
135,554,894 (GRCm39) |
missense |
probably damaging |
0.96 |
R4669:Slc39a8
|
UTSW |
3 |
135,561,772 (GRCm39) |
missense |
probably benign |
0.35 |
R5057:Slc39a8
|
UTSW |
3 |
135,554,790 (GRCm39) |
missense |
probably benign |
0.00 |
R5098:Slc39a8
|
UTSW |
3 |
135,563,918 (GRCm39) |
missense |
probably benign |
0.01 |
R5677:Slc39a8
|
UTSW |
3 |
135,590,449 (GRCm39) |
missense |
probably damaging |
1.00 |
R6747:Slc39a8
|
UTSW |
3 |
135,554,941 (GRCm39) |
critical splice donor site |
probably null |
|
R7181:Slc39a8
|
UTSW |
3 |
135,563,299 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7459:Slc39a8
|
UTSW |
3 |
135,592,672 (GRCm39) |
missense |
probably damaging |
1.00 |
R7506:Slc39a8
|
UTSW |
3 |
135,590,067 (GRCm39) |
missense |
probably benign |
0.03 |
R7589:Slc39a8
|
UTSW |
3 |
135,590,123 (GRCm39) |
missense |
probably damaging |
0.96 |
R7860:Slc39a8
|
UTSW |
3 |
135,590,157 (GRCm39) |
missense |
probably damaging |
1.00 |
R8059:Slc39a8
|
UTSW |
3 |
135,532,347 (GRCm39) |
missense |
probably benign |
0.00 |
R8096:Slc39a8
|
UTSW |
3 |
135,590,417 (GRCm39) |
missense |
probably damaging |
1.00 |
R8144:Slc39a8
|
UTSW |
3 |
135,590,404 (GRCm39) |
nonsense |
probably null |
|
R8218:Slc39a8
|
UTSW |
3 |
135,563,325 (GRCm39) |
missense |
probably benign |
0.03 |
R9595:Slc39a8
|
UTSW |
3 |
135,592,688 (GRCm39) |
missense |
possibly damaging |
0.81 |
X0023:Slc39a8
|
UTSW |
3 |
135,532,305 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GCAGAAACCATGGAATCTTGTAC -3'
(R):5'- TTGAAATACTGACTCCCTGCG -3'
Sequencing Primer
(F):5'- AGTACTTTAAAGAGATTACACGCAG -3'
(R):5'- AAATACTGACTCCCTGCGTTCCC -3'
|
Posted On |
2022-05-16 |