Incidental Mutation 'R6718:Slc30a9'
ID |
529458 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc30a9
|
Ensembl Gene |
ENSMUSG00000029221 |
Gene Name |
solute carrier family 30 (zinc transporter), member 9 |
Synonyms |
GAC63, 2310024J23Rik |
MMRRC Submission |
044836-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.916)
|
Stock # |
R6718 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
67464298-67513485 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 67490443 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 218
(V218A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109306
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113676]
[ENSMUST00000162372]
[ENSMUST00000202521]
|
AlphaFold |
Q5IRJ6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113676
AA Change: V218A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109306 Gene: ENSMUSG00000029221 AA Change: V218A
Domain | Start | End | E-Value | Type |
low complexity region
|
17 |
32 |
N/A |
INTRINSIC |
PDB:2ENK|A
|
103 |
196 |
2e-54 |
PDB |
SCOP:d1d4ua1
|
106 |
174 |
3e-28 |
SMART |
Pfam:Cation_efflux
|
219 |
547 |
1.6e-41 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161169
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000162372
AA Change: V238A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000124047 Gene: ENSMUSG00000029221 AA Change: V238A
Domain | Start | End | E-Value | Type |
low complexity region
|
17 |
32 |
N/A |
INTRINSIC |
PDB:2ENK|A
|
123 |
216 |
2e-54 |
PDB |
SCOP:d1d4ua1
|
126 |
194 |
5e-28 |
SMART |
Pfam:Cation_efflux
|
239 |
449 |
1e-33 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200734
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202521
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202770
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afg3l2 |
G |
A |
18: 67,554,346 (GRCm39) |
T452I |
probably damaging |
Het |
Asb8 |
A |
G |
15: 98,034,015 (GRCm39) |
I180T |
probably benign |
Het |
Cdh18 |
A |
G |
15: 23,226,835 (GRCm39) |
T45A |
probably benign |
Het |
Col12a1 |
T |
A |
9: 79,606,887 (GRCm39) |
Y512F |
probably damaging |
Het |
Col6a1 |
A |
G |
10: 76,560,884 (GRCm39) |
F38S |
probably damaging |
Het |
Hoxc5 |
A |
G |
15: 102,922,698 (GRCm39) |
|
probably null |
Het |
Kmt2d |
TATGCTGCTG |
TATGCTGCTGATGCTGCTG |
15: 98,747,467 (GRCm39) |
|
probably benign |
Het |
Kmt2d |
C |
T |
15: 98,748,420 (GRCm39) |
|
probably benign |
Het |
Lrp2 |
G |
T |
2: 69,314,124 (GRCm39) |
H2202Q |
probably benign |
Het |
Maf |
C |
A |
8: 116,433,539 (GRCm39) |
V22F |
unknown |
Het |
Mrgpra3 |
C |
T |
7: 47,239,444 (GRCm39) |
V161M |
probably benign |
Het |
Or7g33 |
G |
T |
9: 19,448,495 (GRCm39) |
H244N |
probably damaging |
Het |
Otx1 |
T |
C |
11: 21,946,412 (GRCm39) |
|
probably benign |
Het |
Parvb |
C |
T |
15: 84,182,180 (GRCm39) |
R237W |
probably damaging |
Het |
Pex11a |
A |
G |
7: 79,387,230 (GRCm39) |
F201L |
probably benign |
Het |
Pigu |
A |
G |
2: 155,143,206 (GRCm39) |
Y232H |
possibly damaging |
Het |
Pms2 |
T |
C |
5: 143,860,307 (GRCm39) |
I40T |
probably damaging |
Het |
Pura |
A |
G |
18: 36,420,696 (GRCm39) |
N161S |
probably damaging |
Het |
Ranbp10 |
A |
G |
8: 106,501,260 (GRCm39) |
V330A |
possibly damaging |
Het |
Spindoc |
C |
T |
19: 7,335,781 (GRCm39) |
V336I |
probably damaging |
Het |
Tmprss9 |
A |
G |
10: 80,726,198 (GRCm39) |
T483A |
probably benign |
Het |
|
Other mutations in Slc30a9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00792:Slc30a9
|
APN |
5 |
67,499,452 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00975:Slc30a9
|
APN |
5 |
67,507,169 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01129:Slc30a9
|
APN |
5 |
67,499,486 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01377:Slc30a9
|
APN |
5 |
67,473,173 (GRCm39) |
missense |
probably benign |
|
IGL01785:Slc30a9
|
APN |
5 |
67,503,581 (GRCm39) |
splice site |
probably benign |
|
IGL01786:Slc30a9
|
APN |
5 |
67,503,581 (GRCm39) |
splice site |
probably benign |
|
IGL02407:Slc30a9
|
APN |
5 |
67,510,065 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03185:Slc30a9
|
APN |
5 |
67,490,406 (GRCm39) |
missense |
probably benign |
|
IGL03276:Slc30a9
|
APN |
5 |
67,507,260 (GRCm39) |
splice site |
probably benign |
|
IGL03380:Slc30a9
|
APN |
5 |
67,473,054 (GRCm39) |
missense |
probably benign |
0.04 |
ANU74:Slc30a9
|
UTSW |
5 |
67,507,195 (GRCm39) |
missense |
probably damaging |
1.00 |
R0539:Slc30a9
|
UTSW |
5 |
67,491,953 (GRCm39) |
missense |
probably damaging |
1.00 |
R1401:Slc30a9
|
UTSW |
5 |
67,510,005 (GRCm39) |
missense |
probably benign |
|
R1554:Slc30a9
|
UTSW |
5 |
67,484,264 (GRCm39) |
missense |
probably damaging |
1.00 |
R1824:Slc30a9
|
UTSW |
5 |
67,505,395 (GRCm39) |
missense |
probably damaging |
1.00 |
R2029:Slc30a9
|
UTSW |
5 |
67,497,318 (GRCm39) |
nonsense |
probably null |
|
R4385:Slc30a9
|
UTSW |
5 |
67,473,110 (GRCm39) |
missense |
probably damaging |
1.00 |
R4704:Slc30a9
|
UTSW |
5 |
67,499,616 (GRCm39) |
intron |
probably benign |
|
R4868:Slc30a9
|
UTSW |
5 |
67,482,026 (GRCm39) |
missense |
probably benign |
|
R4907:Slc30a9
|
UTSW |
5 |
67,503,505 (GRCm39) |
missense |
probably damaging |
1.00 |
R5553:Slc30a9
|
UTSW |
5 |
67,502,947 (GRCm39) |
splice site |
probably null |
|
R6002:Slc30a9
|
UTSW |
5 |
67,499,460 (GRCm39) |
missense |
probably damaging |
1.00 |
R6477:Slc30a9
|
UTSW |
5 |
67,485,867 (GRCm39) |
missense |
probably benign |
0.01 |
R7113:Slc30a9
|
UTSW |
5 |
67,484,205 (GRCm39) |
missense |
probably benign |
0.17 |
R7224:Slc30a9
|
UTSW |
5 |
67,473,044 (GRCm39) |
missense |
probably benign |
|
R7327:Slc30a9
|
UTSW |
5 |
67,499,462 (GRCm39) |
missense |
probably damaging |
1.00 |
R7394:Slc30a9
|
UTSW |
5 |
67,510,109 (GRCm39) |
critical splice donor site |
probably null |
|
R7467:Slc30a9
|
UTSW |
5 |
67,502,987 (GRCm39) |
missense |
probably benign |
0.08 |
R7514:Slc30a9
|
UTSW |
5 |
67,505,421 (GRCm39) |
missense |
possibly damaging |
0.68 |
R8020:Slc30a9
|
UTSW |
5 |
67,464,376 (GRCm39) |
start gained |
probably benign |
|
R8299:Slc30a9
|
UTSW |
5 |
67,484,248 (GRCm39) |
missense |
probably damaging |
1.00 |
R8336:Slc30a9
|
UTSW |
5 |
67,473,058 (GRCm39) |
nonsense |
probably null |
|
R8882:Slc30a9
|
UTSW |
5 |
67,473,044 (GRCm39) |
nonsense |
probably null |
|
R9079:Slc30a9
|
UTSW |
5 |
67,484,241 (GRCm39) |
missense |
possibly damaging |
0.60 |
R9365:Slc30a9
|
UTSW |
5 |
67,507,142 (GRCm39) |
missense |
probably damaging |
1.00 |
R9431:Slc30a9
|
UTSW |
5 |
67,505,278 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Slc30a9
|
UTSW |
5 |
67,497,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ACCCCTTTAAAGAGAGATGTTGGATG -3'
(R):5'- CCCAAATCAAATGTCCATAGGG -3'
Sequencing Primer
(F):5'- GAAAAGAATTTGATAGCAAGCCTCC -3'
(R):5'- TATCATTTCACTGGGCCACAAC -3'
|
Posted On |
2018-08-01 |