Incidental Mutation 'R3934:Slc39a12'
| ID |
306924 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc39a12
|
| Ensembl Gene |
ENSMUSG00000036949 |
| Gene Name |
solute carrier family 39 (zinc transporter), member 12 |
| Synonyms |
LOC277468 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R3934 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
14393127-14499788 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 14439174 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110379
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082290]
[ENSMUST00000114731]
|
| AlphaFold |
Q5FWH7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000082290
|
| SMART Domains |
Protein: ENSMUSP00000080911
Gene: ENSMUSG00000036949
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:Zip
|
364 |
681 |
1.8e-65 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114731
|
| SMART Domains |
Protein: ENSMUSP00000110379
Gene: ENSMUSG00000036949
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
|
Pfam:Zip
|
382 |
511 |
2.5e-17 |
PFAM |
|
Pfam:Zip
|
492 |
661 |
1.5e-41 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.5%
|
| Validation Efficiency |
100% (40/40) |
| 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. SLC39A12 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM, Aug 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730507C01Rik |
T |
A |
12: 18,584,082 (GRCm39) |
Y381N |
possibly damaging |
Het |
| Adgrf3 |
T |
C |
5: 30,405,432 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
A |
G |
13: 81,623,166 (GRCm39) |
F3819S |
probably benign |
Het |
| Aig1 |
T |
C |
10: 13,677,656 (GRCm39) |
D112G |
probably damaging |
Het |
| Akap6 |
C |
T |
12: 53,187,227 (GRCm39) |
T1547M |
possibly damaging |
Het |
| Alk |
T |
A |
17: 72,512,949 (GRCm39) |
I337F |
probably damaging |
Het |
| C2cd5 |
C |
T |
6: 142,987,106 (GRCm39) |
V499I |
possibly damaging |
Het |
| Capn11 |
A |
T |
17: 45,945,213 (GRCm39) |
|
probably benign |
Het |
| Clstn3 |
G |
A |
6: 124,434,901 (GRCm39) |
T338I |
probably damaging |
Het |
| Cmbl |
A |
G |
15: 31,589,933 (GRCm39) |
D221G |
possibly damaging |
Het |
| Enpp2 |
A |
G |
15: 54,709,317 (GRCm39) |
V766A |
probably benign |
Het |
| Fastk |
G |
T |
5: 24,647,257 (GRCm39) |
S317* |
probably null |
Het |
| Fgfr1op2 |
T |
A |
6: 146,496,669 (GRCm39) |
|
probably benign |
Het |
| Gpr85 |
A |
G |
6: 13,836,044 (GRCm39) |
F287L |
probably benign |
Het |
| Hectd4 |
G |
A |
5: 121,458,164 (GRCm39) |
|
probably null |
Het |
| Hmcn2 |
T |
A |
2: 31,270,496 (GRCm39) |
|
probably null |
Het |
| Hspbp1 |
A |
T |
7: 4,667,594 (GRCm39) |
M271K |
probably benign |
Het |
| Itgb6 |
G |
A |
2: 60,441,755 (GRCm39) |
T685M |
possibly damaging |
Het |
| Itih5 |
G |
A |
2: 10,250,355 (GRCm39) |
V685I |
probably damaging |
Het |
| Kalrn |
T |
C |
16: 34,130,901 (GRCm39) |
S421G |
probably benign |
Het |
| Mcm2 |
G |
A |
6: 88,869,990 (GRCm39) |
R60C |
probably damaging |
Het |
| Mitf |
C |
T |
6: 97,970,214 (GRCm39) |
P54S |
probably damaging |
Het |
| Perm1 |
A |
G |
4: 156,303,627 (GRCm39) |
T724A |
probably benign |
Het |
| Pex5l |
T |
C |
3: 33,061,321 (GRCm39) |
E176G |
probably damaging |
Het |
| Polk |
A |
T |
13: 96,638,143 (GRCm39) |
M192K |
possibly damaging |
Het |
| Polr3a |
T |
C |
14: 24,526,169 (GRCm39) |
I401V |
probably benign |
Het |
| Prpf38b |
T |
C |
3: 108,811,741 (GRCm39) |
|
probably benign |
Het |
| Sema3c |
T |
C |
5: 17,886,938 (GRCm39) |
S330P |
probably damaging |
Het |
| Slc16a7 |
C |
A |
10: 125,066,712 (GRCm39) |
R309L |
probably damaging |
Het |
| Slc35f1 |
C |
T |
10: 52,984,314 (GRCm39) |
T358I |
probably damaging |
Het |
| Sod3 |
T |
C |
5: 52,525,987 (GRCm39) |
S229P |
probably benign |
Het |
| Sorcs3 |
T |
A |
19: 48,701,943 (GRCm39) |
V608D |
probably damaging |
Het |
| Spink5 |
G |
T |
18: 44,149,494 (GRCm39) |
K958N |
probably damaging |
Het |
| Ttc7 |
A |
C |
17: 87,678,166 (GRCm39) |
|
probably benign |
Het |
| Ush2a |
T |
A |
1: 187,995,708 (GRCm39) |
|
probably null |
Het |
| Vmn2r19 |
T |
A |
6: 123,292,628 (GRCm39) |
D223E |
probably damaging |
Het |
| Vwf |
T |
A |
6: 125,532,462 (GRCm39) |
S87T |
probably damaging |
Het |
| Wdr35 |
G |
T |
12: 9,058,014 (GRCm39) |
G513C |
probably damaging |
Het |
|
| Other mutations in Slc39a12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00536:Slc39a12
|
APN |
2 |
14,400,879 (GRCm39) |
splice site |
probably benign |
|
|
IGL01597:Slc39a12
|
APN |
2 |
14,439,120 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02516:Slc39a12
|
APN |
2 |
14,405,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
greenshoot
|
UTSW |
2 |
14,425,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
sapling
|
UTSW |
2 |
14,440,489 (GRCm39) |
missense |
probably benign |
|
|
Seedling
|
UTSW |
2 |
14,439,174 (GRCm39) |
splice site |
probably benign |
|
|
stripling
|
UTSW |
2 |
14,405,142 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0068:Slc39a12
|
UTSW |
2 |
14,440,489 (GRCm39) |
missense |
probably benign |
|
|
R0068:Slc39a12
|
UTSW |
2 |
14,440,489 (GRCm39) |
missense |
probably benign |
|
|
R0453:Slc39a12
|
UTSW |
2 |
14,440,492 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0533:Slc39a12
|
UTSW |
2 |
14,405,142 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0718:Slc39a12
|
UTSW |
2 |
14,412,237 (GRCm39) |
splice site |
probably benign |
|
|
R1647:Slc39a12
|
UTSW |
2 |
14,456,803 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1648:Slc39a12
|
UTSW |
2 |
14,456,803 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1879:Slc39a12
|
UTSW |
2 |
14,448,868 (GRCm39) |
missense |
probably benign |
|
|
R1993:Slc39a12
|
UTSW |
2 |
14,439,030 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2429:Slc39a12
|
UTSW |
2 |
14,409,897 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3746:Slc39a12
|
UTSW |
2 |
14,400,878 (GRCm39) |
splice site |
probably benign |
|
|
R3941:Slc39a12
|
UTSW |
2 |
14,400,992 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4008:Slc39a12
|
UTSW |
2 |
14,456,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4478:Slc39a12
|
UTSW |
2 |
14,424,990 (GRCm39) |
nonsense |
probably null |
|
|
R4622:Slc39a12
|
UTSW |
2 |
14,405,136 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4760:Slc39a12
|
UTSW |
2 |
14,405,134 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5477:Slc39a12
|
UTSW |
2 |
14,394,193 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5566:Slc39a12
|
UTSW |
2 |
14,412,414 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5725:Slc39a12
|
UTSW |
2 |
14,394,075 (GRCm39) |
start gained |
probably benign |
|
|
R5798:Slc39a12
|
UTSW |
2 |
14,454,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6074:Slc39a12
|
UTSW |
2 |
14,412,290 (GRCm39) |
nonsense |
probably null |
|
|
R6169:Slc39a12
|
UTSW |
2 |
14,405,044 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6180:Slc39a12
|
UTSW |
2 |
14,400,938 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6802:Slc39a12
|
UTSW |
2 |
14,424,896 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6847:Slc39a12
|
UTSW |
2 |
14,454,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6899:Slc39a12
|
UTSW |
2 |
14,394,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6931:Slc39a12
|
UTSW |
2 |
14,394,186 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7131:Slc39a12
|
UTSW |
2 |
14,454,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7343:Slc39a12
|
UTSW |
2 |
14,456,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7525:Slc39a12
|
UTSW |
2 |
14,499,272 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7568:Slc39a12
|
UTSW |
2 |
14,404,939 (GRCm39) |
splice site |
probably null |
|
|
R7684:Slc39a12
|
UTSW |
2 |
14,454,670 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7761:Slc39a12
|
UTSW |
2 |
14,439,141 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7785:Slc39a12
|
UTSW |
2 |
14,425,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8725:Slc39a12
|
UTSW |
2 |
14,454,670 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9199:Slc39a12
|
UTSW |
2 |
14,394,321 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9280:Slc39a12
|
UTSW |
2 |
14,401,003 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9571:Slc39a12
|
UTSW |
2 |
14,412,380 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTTCCTGGCCTGAGTCTT -3'
(R):5'- TCAAAATAATCGCCGGTCCTT -3'
Sequencing Primer
(F):5'- CCTGGCCTGAGTCTTTTTGTTTG -3'
(R):5'- GGATGACCTTGAACTGATCCC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation