Incidental Mutation 'R5553:Slc30a9'
| ID |
435218 |
| 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 |
043110-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.924)
|
| Stock # |
R5553 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
67464298-67513485 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 67502947 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124047
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113676]
[ENSMUST00000162372]
[ENSMUST00000202521]
|
| AlphaFold |
Q5IRJ6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000113676
|
| SMART Domains |
Protein: ENSMUSP00000109306
Gene: ENSMUSG00000029221
| 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 null
Transcript: ENSMUST00000162372
|
| SMART Domains |
Protein: ENSMUSP00000124047
Gene: ENSMUSG00000029221
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
T |
A |
15: 60,792,690 (GRCm39) |
I86F |
probably damaging |
Het |
| Abca13 |
C |
T |
11: 9,278,158 (GRCm39) |
L3113F |
probably damaging |
Het |
| Ankrd39 |
C |
T |
1: 36,581,062 (GRCm39) |
G96R |
probably damaging |
Het |
| Ano8 |
T |
A |
8: 71,937,641 (GRCm39) |
|
probably null |
Het |
| Arid1b |
A |
T |
17: 5,364,152 (GRCm39) |
S1041C |
probably damaging |
Het |
| Bsn |
T |
A |
9: 107,987,620 (GRCm39) |
|
probably benign |
Het |
| Cbr3 |
A |
G |
16: 93,480,451 (GRCm39) |
E80G |
possibly damaging |
Het |
| Chd1 |
A |
G |
17: 17,605,875 (GRCm39) |
E271G |
probably benign |
Het |
| Dock3 |
T |
A |
9: 106,868,309 (GRCm39) |
K658N |
possibly damaging |
Het |
| Dot1l |
CCAGCCCCACCCTCAGCC |
CCAGCC |
10: 80,619,462 (GRCm39) |
|
probably benign |
Het |
| Dppa1 |
T |
A |
11: 46,503,861 (GRCm39) |
|
probably null |
Het |
| Fen1 |
T |
C |
19: 10,177,787 (GRCm39) |
N219S |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,793,090 (GRCm39) |
T416A |
probably benign |
Het |
| Gm14393 |
A |
T |
2: 174,903,639 (GRCm39) |
C89* |
probably null |
Het |
| Grin2c |
C |
T |
11: 115,143,551 (GRCm39) |
M736I |
probably null |
Het |
| Heatr5b |
A |
T |
17: 79,060,780 (GRCm39) |
|
probably null |
Het |
| Hspbap1 |
G |
T |
16: 35,621,967 (GRCm39) |
W104L |
probably damaging |
Het |
| Igfn1 |
C |
T |
1: 135,895,622 (GRCm39) |
G1648E |
probably damaging |
Het |
| Irf4 |
A |
G |
13: 30,935,811 (GRCm39) |
Y122C |
probably damaging |
Het |
| Kremen2 |
A |
G |
17: 23,960,776 (GRCm39) |
|
probably benign |
Het |
| Niban1 |
C |
T |
1: 151,592,986 (GRCm39) |
T557M |
probably damaging |
Het |
| Nubpl |
T |
A |
12: 52,228,082 (GRCm39) |
L169M |
possibly damaging |
Het |
| Nwd1 |
T |
C |
8: 73,431,604 (GRCm39) |
S1200P |
possibly damaging |
Het |
| Or1j20 |
A |
G |
2: 36,760,477 (GRCm39) |
I300V |
probably benign |
Het |
| Or5p61 |
A |
T |
7: 107,758,478 (GRCm39) |
S201T |
probably benign |
Het |
| Parp14 |
G |
T |
16: 35,677,306 (GRCm39) |
H887Q |
probably benign |
Het |
| Paxip1 |
G |
A |
5: 27,980,637 (GRCm39) |
|
probably benign |
Het |
| Piwil1 |
T |
C |
5: 128,822,565 (GRCm39) |
M392T |
probably benign |
Het |
| Plekhm3 |
T |
C |
1: 64,961,045 (GRCm39) |
S404G |
possibly damaging |
Het |
| Prelid3a |
T |
C |
18: 67,610,093 (GRCm39) |
L141P |
probably damaging |
Het |
| Ptprb |
T |
A |
10: 116,186,090 (GRCm39) |
V1715E |
probably damaging |
Het |
| Rc3h2 |
G |
A |
2: 37,288,323 (GRCm39) |
R420* |
probably null |
Het |
| Selenon |
C |
A |
4: 134,268,228 (GRCm39) |
R435L |
probably damaging |
Het |
| Slc29a4 |
T |
C |
5: 142,705,791 (GRCm39) |
L425P |
probably damaging |
Het |
| Slc9a5 |
T |
C |
8: 106,083,672 (GRCm39) |
V404A |
probably damaging |
Het |
| Ssc5d |
A |
T |
7: 4,939,289 (GRCm39) |
D575V |
probably damaging |
Het |
| Ttn |
A |
C |
2: 76,721,940 (GRCm39) |
|
probably null |
Het |
| Vmn2r100 |
A |
G |
17: 19,725,110 (GRCm39) |
Q13R |
possibly damaging |
Het |
| Wfikkn1 |
T |
A |
17: 26,097,468 (GRCm39) |
L285F |
possibly damaging |
Het |
| Zcchc17 |
A |
G |
4: 130,247,927 (GRCm39) |
|
probably null |
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 |
|
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 |
|
R6718:Slc30a9
|
UTSW |
5 |
67,490,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GTTGACGAAGGCTACTGCTG -3'
(R):5'- CTCTTAGTAACAAAGCAGCAGC -3'
Sequencing Primer
(F):5'- GGCTACTGCTGTAATTATGGCTAACC -3'
(R):5'- GCAGCAGCAGGAAATATTTTAAAC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation