Incidental Mutation 'R5562:Slc30a6'
| ID |
436683 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc30a6
|
| Ensembl Gene |
ENSMUSG00000024069 |
| Gene Name |
solute carrier family 30 (zinc transporter), member 6 |
| Synonyms |
ZnT-6, ZnT6 |
| MMRRC Submission |
043119-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.355)
|
| Stock # |
R5562 (G1)
|
| Quality Score |
176 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
74702603-74731216 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 74719700 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 220
(T220I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136503
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024870]
[ENSMUST00000179074]
|
| AlphaFold |
Q8BJM5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000024870
AA Change: T215I
PolyPhen 2
Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000024870
Gene: ENSMUSG00000024069
AA Change: T215I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cation_efflux
|
34 |
336 |
6.9e-45 |
PFAM |
|
low complexity region
|
371 |
392 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000179074
AA Change: T220I
PolyPhen 2
Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000136503
Gene: ENSMUSG00000024069
AA Change: T220I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cation_efflux
|
34 |
260 |
5.7e-30 |
PFAM |
|
low complexity region
|
376 |
397 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.3%
|
| 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 a family of proteins that function as zinc transporters. This protein can regulate subcellular levels of zinc in the Golgi and vesicles. Expression of this gene is altered in the Alzheimer's disease brain plaques. [provided by RefSeq, Aug 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1a7 |
G |
A |
19: 20,679,628 (GRCm39) |
Q383* |
probably null |
Het |
| Alkbh3 |
A |
T |
2: 93,826,724 (GRCm39) |
|
probably null |
Het |
| Amotl1 |
G |
A |
9: 14,486,593 (GRCm39) |
P434S |
possibly damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,214,971 (GRCm39) |
E1641G |
probably damaging |
Het |
| Arih2 |
T |
C |
9: 108,484,546 (GRCm39) |
T422A |
probably damaging |
Het |
| C7 |
A |
T |
15: 5,061,397 (GRCm39) |
Y317* |
probably null |
Het |
| Car4 |
A |
T |
11: 84,854,924 (GRCm39) |
M91L |
probably benign |
Het |
| Ccdc7a |
T |
C |
8: 129,785,266 (GRCm39) |
D98G |
possibly damaging |
Het |
| Cdc25b |
A |
G |
2: 131,036,678 (GRCm39) |
M493V |
probably damaging |
Het |
| Cdhr3 |
C |
G |
12: 33,101,054 (GRCm39) |
R452T |
probably benign |
Het |
| Col6a2 |
G |
A |
10: 76,435,509 (GRCm39) |
Q909* |
probably null |
Het |
| Cyp2j8 |
A |
G |
4: 96,358,890 (GRCm39) |
I343T |
probably damaging |
Het |
| Dcstamp |
G |
A |
15: 39,617,798 (GRCm39) |
C69Y |
possibly damaging |
Het |
| Dnaaf8 |
C |
A |
16: 4,791,940 (GRCm39) |
|
noncoding transcript |
Het |
| Efhc1 |
C |
T |
1: 21,043,104 (GRCm39) |
T341I |
probably damaging |
Het |
| Elovl2 |
A |
G |
13: 41,338,772 (GRCm39) |
*276Q |
probably null |
Het |
| Fnip1 |
T |
A |
11: 54,380,168 (GRCm39) |
|
probably null |
Het |
| Foxc1 |
A |
G |
13: 31,991,573 (GRCm39) |
H128R |
probably damaging |
Het |
| Gpr107 |
C |
T |
2: 31,042,375 (GRCm39) |
A2V |
probably damaging |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Kif15 |
A |
T |
9: 122,807,081 (GRCm39) |
Q44H |
probably damaging |
Het |
| Masp1 |
T |
C |
16: 23,283,917 (GRCm39) |
|
probably null |
Het |
| Muc5b |
T |
C |
7: 141,400,975 (GRCm39) |
I530T |
unknown |
Het |
| Ncoa4-ps |
T |
A |
12: 119,225,957 (GRCm39) |
|
noncoding transcript |
Het |
| Nherf2 |
A |
G |
17: 24,860,798 (GRCm39) |
V137A |
probably benign |
Het |
| Nudt7 |
C |
A |
8: 114,874,723 (GRCm39) |
A93D |
probably damaging |
Het |
| Or5w1b |
T |
C |
2: 87,476,063 (GRCm39) |
I135V |
probably benign |
Het |
| Pcdha8 |
A |
G |
18: 37,126,024 (GRCm39) |
T169A |
possibly damaging |
Het |
| Prnp |
A |
G |
2: 131,778,951 (GRCm39) |
D201G |
probably damaging |
Het |
| Serinc1 |
G |
A |
10: 57,400,147 (GRCm39) |
Q167* |
probably null |
Het |
| Slc13a5 |
A |
G |
11: 72,152,865 (GRCm39) |
V35A |
probably damaging |
Het |
| Slc7a7 |
T |
A |
14: 54,646,269 (GRCm39) |
M65L |
probably benign |
Het |
| Speg |
T |
A |
1: 75,403,700 (GRCm39) |
L2627Q |
probably damaging |
Het |
| Tank |
A |
G |
2: 61,480,552 (GRCm39) |
T363A |
possibly damaging |
Het |
| Taok3 |
T |
A |
5: 117,389,029 (GRCm39) |
L478Q |
probably damaging |
Het |
| Trim55 |
A |
T |
3: 19,713,317 (GRCm39) |
M123L |
probably benign |
Het |
| Trpm2 |
A |
G |
10: 77,795,773 (GRCm39) |
V118A |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,600,803 (GRCm39) |
Y17114N |
probably damaging |
Het |
| Unc5c |
A |
G |
3: 141,474,291 (GRCm39) |
T214A |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,308,414 (GRCm39) |
V2021E |
probably damaging |
Het |
| Utp4 |
G |
A |
8: 107,649,557 (GRCm39) |
D669N |
probably benign |
Het |
| Zfp560 |
G |
T |
9: 20,261,883 (GRCm39) |
Y89* |
probably null |
Het |
| Zfp64 |
A |
G |
2: 168,767,642 (GRCm39) |
S657P |
probably benign |
Het |
|
| Other mutations in Slc30a6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01336:Slc30a6
|
APN |
17 |
74,715,834 (GRCm39) |
splice site |
probably benign |
|
|
IGL01592:Slc30a6
|
APN |
17 |
74,726,523 (GRCm39) |
splice site |
probably benign |
|
|
IGL02556:Slc30a6
|
APN |
17 |
74,711,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03033:Slc30a6
|
APN |
17 |
74,716,373 (GRCm39) |
nonsense |
probably null |
|
|
IGL03149:Slc30a6
|
APN |
17 |
74,730,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0355:Slc30a6
|
UTSW |
17 |
74,730,198 (GRCm39) |
missense |
probably benign |
|
|
R0791:Slc30a6
|
UTSW |
17 |
74,722,640 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0792:Slc30a6
|
UTSW |
17 |
74,722,640 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1507:Slc30a6
|
UTSW |
17 |
74,715,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1517:Slc30a6
|
UTSW |
17 |
74,715,842 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1585:Slc30a6
|
UTSW |
17 |
74,725,610 (GRCm39) |
splice site |
probably benign |
|
|
R1944:Slc30a6
|
UTSW |
17 |
74,715,858 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2925:Slc30a6
|
UTSW |
17 |
74,708,999 (GRCm39) |
splice site |
probably benign |
|
|
R3891:Slc30a6
|
UTSW |
17 |
74,726,541 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4840:Slc30a6
|
UTSW |
17 |
74,712,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4863:Slc30a6
|
UTSW |
17 |
74,719,649 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5330:Slc30a6
|
UTSW |
17 |
74,730,190 (GRCm39) |
missense |
probably benign |
0.24 |
|
R5331:Slc30a6
|
UTSW |
17 |
74,730,190 (GRCm39) |
missense |
probably benign |
0.24 |
|
R6458:Slc30a6
|
UTSW |
17 |
74,730,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6681:Slc30a6
|
UTSW |
17 |
74,711,027 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7419:Slc30a6
|
UTSW |
17 |
74,730,424 (GRCm39) |
missense |
probably benign |
|
|
R7457:Slc30a6
|
UTSW |
17 |
74,714,233 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7596:Slc30a6
|
UTSW |
17 |
74,722,664 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7844:Slc30a6
|
UTSW |
17 |
74,711,088 (GRCm39) |
splice site |
probably null |
|
|
R8043:Slc30a6
|
UTSW |
17 |
74,730,018 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8097:Slc30a6
|
UTSW |
17 |
74,719,693 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8465:Slc30a6
|
UTSW |
17 |
74,722,661 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8557:Slc30a6
|
UTSW |
17 |
74,712,685 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8878:Slc30a6
|
UTSW |
17 |
74,730,112 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9035:Slc30a6
|
UTSW |
17 |
74,726,586 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9432:Slc30a6
|
UTSW |
17 |
74,719,699 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9632:Slc30a6
|
UTSW |
17 |
74,730,059 (GRCm39) |
missense |
probably benign |
0.01 |
|
T0722:Slc30a6
|
UTSW |
17 |
74,719,319 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0003:Slc30a6
|
UTSW |
17 |
74,719,319 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATTCTGCACAGTGGCCAAGC -3'
(R):5'- GTTGAGGCTAAGACCTGACCTG -3'
Sequencing Primer
(F):5'- ACAGTGGCCAAGCTTTGTC -3'
(R):5'- GCTAAGACCTGACCTGGTTATATGAG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation