Incidental Mutation 'R4011:Slc30a3'
| ID |
311684 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc30a3
|
| Ensembl Gene |
ENSMUSG00000029151 |
| Gene Name |
solute carrier family 30 (zinc transporter), member 3 |
| Synonyms |
Znt3 |
| MMRRC Submission |
040948-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.275)
|
| Stock # |
R4011 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
31243450-31265581 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 31244203 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 360
(F360L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031037
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031037]
[ENSMUST00000200906]
[ENSMUST00000201396]
[ENSMUST00000201783]
[ENSMUST00000202731]
[ENSMUST00000202740]
|
| AlphaFold |
P97441 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031037
AA Change: F360L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031037
Gene: ENSMUSG00000029151
AA Change: F360L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
48 |
N/A |
INTRINSIC |
|
Pfam:Cation_efflux
|
76 |
293 |
7.6e-46 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200906
|
| SMART Domains |
Protein: ENSMUSP00000144098
Gene: ENSMUSG00000029151
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
36 |
N/A |
INTRINSIC |
|
Pfam:Cation_efflux
|
64 |
173 |
2e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201396
|
| SMART Domains |
Protein: ENSMUSP00000144295
Gene: ENSMUSG00000029151
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cation_efflux
|
27 |
124 |
1.1e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201783
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202731
|
| SMART Domains |
Protein: ENSMUSP00000144574
Gene: ENSMUSG00000029151
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
58 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202740
AA Change: F311L
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000144566
Gene: ENSMUSG00000029151
AA Change: F311L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cation_efflux
|
27 |
244 |
3e-46 |
PFAM |
|
| Meta Mutation Damage Score |
0.6602 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.7%
|
| Validation Efficiency |
100% (43/43) |
| MGI Phenotype |
PHENOTYPE: While zinc is absent from synaptic vesicles in homozygous null mice, inactivation of this locus does not affect brain morphology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
G |
A |
11: 9,572,013 (GRCm39) |
|
probably benign |
Het |
| Acss2 |
T |
A |
2: 155,399,548 (GRCm39) |
L529Q |
probably damaging |
Het |
| Adsl |
T |
C |
15: 80,850,357 (GRCm39) |
S359P |
probably benign |
Het |
| C1qtnf1 |
G |
A |
11: 118,337,365 (GRCm39) |
G65D |
probably benign |
Het |
| Chd1l |
A |
T |
3: 97,477,718 (GRCm39) |
M679K |
probably benign |
Het |
| Cspg4 |
A |
G |
9: 56,794,601 (GRCm39) |
T779A |
probably benign |
Het |
| Ddx18 |
T |
C |
1: 121,489,810 (GRCm39) |
I200V |
probably benign |
Het |
| Dnah9 |
T |
A |
11: 65,725,290 (GRCm39) |
M4288L |
probably damaging |
Het |
| F830045P16Rik |
A |
T |
2: 129,305,467 (GRCm39) |
N302K |
probably damaging |
Het |
| Gas1 |
T |
G |
13: 60,323,791 (GRCm39) |
D322A |
unknown |
Het |
| Gfm2 |
T |
A |
13: 97,279,608 (GRCm39) |
|
probably benign |
Het |
| Gm5592 |
G |
T |
7: 40,938,934 (GRCm39) |
V739L |
probably benign |
Het |
| Hbb-bh2 |
T |
A |
7: 103,489,416 (GRCm39) |
H45L |
probably benign |
Het |
| Ifit2 |
G |
T |
19: 34,551,445 (GRCm39) |
M328I |
probably benign |
Het |
| Igdcc4 |
T |
C |
9: 65,042,761 (GRCm39) |
V1237A |
probably benign |
Het |
| Kat2b |
G |
A |
17: 53,951,769 (GRCm39) |
|
probably null |
Het |
| Lmtk2 |
A |
G |
5: 144,112,697 (GRCm39) |
N1139S |
probably benign |
Het |
| Map1a |
G |
A |
2: 121,130,608 (GRCm39) |
A475T |
probably damaging |
Het |
| Map3k20 |
G |
A |
2: 72,214,468 (GRCm39) |
|
probably benign |
Het |
| Mga |
T |
C |
2: 119,762,261 (GRCm39) |
V1084A |
probably damaging |
Het |
| Msantd5f6 |
T |
C |
4: 73,320,047 (GRCm39) |
Y244C |
probably damaging |
Het |
| Myo3b |
A |
G |
2: 69,926,720 (GRCm39) |
I5V |
probably benign |
Het |
| Or10a3m |
A |
T |
7: 108,313,366 (GRCm39) |
I269L |
probably benign |
Het |
| Or10ag56 |
A |
G |
2: 87,139,555 (GRCm39) |
I141V |
probably benign |
Het |
| Or10ag57 |
A |
T |
2: 87,218,924 (GRCm39) |
I292F |
possibly damaging |
Het |
| Or56b1 |
A |
G |
7: 104,285,555 (GRCm39) |
T225A |
probably benign |
Het |
| Or5h24 |
G |
A |
16: 58,919,124 (GRCm39) |
T77I |
unknown |
Het |
| Or5v1 |
T |
C |
17: 37,810,382 (GRCm39) |
V280A |
possibly damaging |
Het |
| Osmr |
G |
T |
15: 6,854,014 (GRCm39) |
R565S |
probably benign |
Het |
| Pcolce |
G |
T |
5: 137,604,036 (GRCm39) |
Q344K |
probably benign |
Het |
| Prdm11 |
A |
G |
2: 92,843,175 (GRCm39) |
F95L |
probably damaging |
Het |
| Psd2 |
C |
T |
18: 36,120,300 (GRCm39) |
T383I |
probably benign |
Het |
| Reg3a |
G |
A |
6: 78,360,553 (GRCm39) |
D164N |
probably damaging |
Het |
| Serpina3a |
A |
T |
12: 104,084,902 (GRCm39) |
D99V |
probably benign |
Het |
| Sgce |
G |
T |
6: 4,691,563 (GRCm39) |
Y301* |
probably null |
Het |
| Slc28a3 |
T |
C |
13: 58,714,064 (GRCm39) |
K434E |
probably benign |
Het |
| Tdpoz3 |
A |
T |
3: 93,733,550 (GRCm39) |
Y75F |
possibly damaging |
Het |
| Trim65 |
A |
G |
11: 116,018,529 (GRCm39) |
F249L |
probably benign |
Het |
| Tubgcp3 |
A |
T |
8: 12,689,634 (GRCm39) |
L544* |
probably null |
Het |
| Vit |
C |
T |
17: 78,842,121 (GRCm39) |
|
probably benign |
Het |
| Wdfy4 |
C |
A |
14: 32,824,637 (GRCm39) |
|
probably benign |
Het |
| Xpo6 |
T |
C |
7: 125,739,780 (GRCm39) |
K431E |
probably benign |
Het |
| Xrn1 |
T |
A |
9: 95,867,278 (GRCm39) |
Y545* |
probably null |
Het |
|
| Other mutations in Slc30a3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00803:Slc30a3
|
APN |
5 |
31,245,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01411:Slc30a3
|
APN |
5 |
31,247,424 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02678:Slc30a3
|
APN |
5 |
31,245,676 (GRCm39) |
nonsense |
probably null |
|
|
R0606:Slc30a3
|
UTSW |
5 |
31,246,067 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1173:Slc30a3
|
UTSW |
5 |
31,244,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1184:Slc30a3
|
UTSW |
5 |
31,247,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1924:Slc30a3
|
UTSW |
5 |
31,245,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2076:Slc30a3
|
UTSW |
5 |
31,244,165 (GRCm39) |
nonsense |
probably null |
|
|
R2432:Slc30a3
|
UTSW |
5 |
31,246,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3552:Slc30a3
|
UTSW |
5 |
31,252,422 (GRCm39) |
intron |
probably benign |
|
|
R4731:Slc30a3
|
UTSW |
5 |
31,250,638 (GRCm39) |
missense |
probably benign |
|
|
R4956:Slc30a3
|
UTSW |
5 |
31,244,247 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5469:Slc30a3
|
UTSW |
5 |
31,246,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6364:Slc30a3
|
UTSW |
5 |
31,246,083 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6799:Slc30a3
|
UTSW |
5 |
31,246,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7182:Slc30a3
|
UTSW |
5 |
31,247,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7182:Slc30a3
|
UTSW |
5 |
31,244,169 (GRCm39) |
missense |
probably benign |
|
|
R7195:Slc30a3
|
UTSW |
5 |
31,246,139 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7260:Slc30a3
|
UTSW |
5 |
31,245,690 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8057:Slc30a3
|
UTSW |
5 |
31,247,395 (GRCm39) |
splice site |
probably benign |
|
|
R8836:Slc30a3
|
UTSW |
5 |
31,250,668 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8855:Slc30a3
|
UTSW |
5 |
31,245,325 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R8866:Slc30a3
|
UTSW |
5 |
31,245,325 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9193:Slc30a3
|
UTSW |
5 |
31,246,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9456:Slc30a3
|
UTSW |
5 |
31,246,889 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACACTTTGGTCTTGGCCACC -3'
(R):5'- GGAAAATCAGGAGCCCTATTTG -3'
Sequencing Primer
(F):5'- AGAGAGAGAGGTCCCTTCTGATCTG -3'
(R):5'- CCTATTTGGGCCTTTGGGG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation