Incidental Mutation 'R5469:Slc30a3'
ID |
433401 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc30a3
|
Ensembl Gene |
ENSMUSG00000029151 |
Gene Name |
solute carrier family 30 (zinc transporter), member 3 |
Synonyms |
Znt3 |
MMRRC Submission |
043030-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.275)
|
Stock # |
R5469 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
31243450-31265581 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 31246004 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 193
(D193V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144566
(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: D242V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000031037 Gene: ENSMUSG00000029151 AA Change: D242V
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 |
not run
Transcript: ENSMUST00000182444
AA Change: D193V
|
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: D193V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000144566 Gene: ENSMUSG00000029151 AA Change: D193V
Domain | Start | End | E-Value | Type |
Pfam:Cation_efflux
|
27 |
244 |
3e-46 |
PFAM |
|
Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.3%
- 10x: 95.1%
- 20x: 90.4%
|
Validation Efficiency |
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Allc |
A |
T |
12: 28,605,305 (GRCm39) |
N331K |
probably benign |
Het |
Anapc1 |
G |
T |
2: 128,517,621 (GRCm39) |
S341* |
probably null |
Het |
Cacna1e |
T |
C |
1: 154,319,683 (GRCm39) |
E1339G |
probably damaging |
Het |
Cacna2d1 |
T |
A |
5: 16,557,676 (GRCm39) |
I702N |
probably damaging |
Het |
Casp2 |
C |
A |
6: 42,246,268 (GRCm39) |
H209N |
probably benign |
Het |
Casr |
A |
G |
16: 36,330,392 (GRCm39) |
V314A |
probably benign |
Het |
Ccne2 |
A |
T |
4: 11,201,353 (GRCm39) |
R294* |
probably null |
Het |
Cd180 |
T |
A |
13: 102,841,342 (GRCm39) |
H129Q |
probably benign |
Het |
Chst10 |
A |
T |
1: 38,904,608 (GRCm39) |
Y362N |
probably damaging |
Het |
Ctnna1 |
T |
A |
18: 35,372,573 (GRCm39) |
D509E |
probably benign |
Het |
Ctsh |
G |
T |
9: 89,942,564 (GRCm39) |
|
probably null |
Het |
Dhx29 |
C |
T |
13: 113,081,073 (GRCm39) |
A369V |
possibly damaging |
Het |
Enox1 |
A |
G |
14: 77,830,414 (GRCm39) |
T340A |
probably benign |
Het |
Fam135b |
T |
A |
15: 71,317,892 (GRCm39) |
T1357S |
probably benign |
Het |
Flt3 |
A |
T |
5: 147,291,893 (GRCm39) |
S544T |
possibly damaging |
Het |
Gm12689 |
T |
C |
4: 99,184,402 (GRCm39) |
I85T |
unknown |
Het |
Gsap |
A |
T |
5: 21,495,542 (GRCm39) |
Y831F |
possibly damaging |
Het |
Hnrnpr |
C |
T |
4: 136,046,745 (GRCm39) |
T142M |
probably damaging |
Het |
Jak3 |
A |
G |
8: 72,131,417 (GRCm39) |
D94G |
probably benign |
Het |
Ktn1 |
A |
T |
14: 47,928,377 (GRCm39) |
E579D |
probably damaging |
Het |
Lama2 |
G |
A |
10: 26,917,185 (GRCm39) |
P2247S |
possibly damaging |
Het |
Lrba |
C |
T |
3: 86,449,948 (GRCm39) |
S2089F |
probably damaging |
Het |
Map1b |
C |
T |
13: 99,565,846 (GRCm39) |
V2292M |
unknown |
Het |
Mphosph10 |
A |
T |
7: 64,039,193 (GRCm39) |
|
probably null |
Het |
Pappa |
C |
T |
4: 65,123,389 (GRCm39) |
T908M |
probably benign |
Het |
Pdcd10 |
T |
A |
3: 75,428,364 (GRCm39) |
K150* |
probably null |
Het |
Piezo2 |
A |
T |
18: 63,160,935 (GRCm39) |
I2275N |
probably damaging |
Het |
Pmvk |
T |
C |
3: 89,374,989 (GRCm39) |
|
probably null |
Het |
Pold2 |
G |
A |
11: 5,823,048 (GRCm39) |
P376S |
probably damaging |
Het |
Prtg |
A |
T |
9: 72,799,247 (GRCm39) |
Q759L |
probably damaging |
Het |
Rad51ap1 |
C |
T |
6: 126,905,190 (GRCm39) |
S107N |
probably damaging |
Het |
Rfk |
T |
A |
19: 17,372,566 (GRCm39) |
N29K |
probably damaging |
Het |
Ror2 |
T |
C |
13: 53,271,375 (GRCm39) |
M315V |
probably benign |
Het |
Rrn3 |
A |
G |
16: 13,630,964 (GRCm39) |
E600G |
probably benign |
Het |
Ryk |
A |
G |
9: 102,784,153 (GRCm39) |
Y593C |
possibly damaging |
Het |
Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
Srbd1 |
C |
A |
17: 86,427,370 (GRCm39) |
C421F |
possibly damaging |
Het |
Sstr5 |
A |
C |
17: 25,711,043 (GRCm39) |
V62G |
probably damaging |
Het |
Tfip11 |
G |
A |
5: 112,482,191 (GRCm39) |
W483* |
probably null |
Het |
Tlk1 |
T |
C |
2: 70,552,012 (GRCm39) |
H553R |
probably benign |
Het |
Tnc |
T |
C |
4: 63,932,162 (GRCm39) |
|
probably null |
Het |
Trav12-1 |
A |
G |
14: 53,775,930 (GRCm39) |
T27A |
probably damaging |
Het |
Usp9y |
G |
A |
Y: 1,364,714 (GRCm39) |
T1033I |
probably benign |
Het |
V1ra8 |
C |
T |
6: 90,180,186 (GRCm39) |
H130Y |
probably benign |
Het |
Vmn2r77 |
A |
T |
7: 86,451,271 (GRCm39) |
M386L |
probably benign |
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 |
|
R4011:Slc30a3
|
UTSW |
5 |
31,244,203 (GRCm39) |
missense |
probably damaging |
1.00 |
R4731:Slc30a3
|
UTSW |
5 |
31,250,638 (GRCm39) |
missense |
probably benign |
|
R4956:Slc30a3
|
UTSW |
5 |
31,244,247 (GRCm39) |
missense |
possibly damaging |
0.92 |
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'- GGCTCTTCACAACCTGAAAGC -3'
(R):5'- CTTTCTGGGACGGGAAAGAG -3'
Sequencing Primer
(F):5'- TGAAAGCACCCTGGGACTCTTG -3'
(R):5'- GCCAAGAACAGGCCGTCTG -3'
|
Posted On |
2016-10-06 |