Incidental Mutation 'IGL02226:Slc39a9'
ID |
285346 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slc39a9
|
Ensembl Gene |
ENSMUSG00000048833 |
Gene Name |
solute carrier family 39 (zinc transporter), member 9 |
Synonyms |
2010002A02Rik, 2610511I23Rik, 4833420E20Rik |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.659)
|
Stock # |
IGL02226
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
80690657-80730116 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 80691695 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 14
(M14K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151396
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021559]
[ENSMUST00000085245]
[ENSMUST00000166931]
[ENSMUST00000217889]
[ENSMUST00000219706]
[ENSMUST00000219405]
[ENSMUST00000218740]
[ENSMUST00000218364]
|
AlphaFold |
Q8BFU1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021559
|
SMART Domains |
Protein: ENSMUSP00000021559 Gene: ENSMUSG00000021131
Domain | Start | End | E-Value | Type |
Pfam:ER
|
1 |
103 |
9.9e-56 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000085245
AA Change: M14K
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000082343 Gene: ENSMUSG00000048833 AA Change: M14K
Domain | Start | End | E-Value | Type |
Pfam:Zip
|
4 |
146 |
2.6e-13 |
PFAM |
Pfam:Zip
|
132 |
303 |
2e-30 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166931
|
SMART Domains |
Protein: ENSMUSP00000129620 Gene: ENSMUSG00000021131
Domain | Start | End | E-Value | Type |
Pfam:ER
|
21 |
118 |
4.6e-49 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217770
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000217889
AA Change: M14K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218336
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219706
AA Change: M14K
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218440
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219405
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218740
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218364
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap6 |
T |
C |
12: 53,057,250 (GRCm39) |
|
probably benign |
Het |
Ankrd11 |
G |
A |
8: 123,618,984 (GRCm39) |
R1602W |
probably damaging |
Het |
Arhgap23 |
G |
T |
11: 97,342,426 (GRCm39) |
R236L |
probably benign |
Het |
Aurkaip1 |
T |
C |
4: 155,917,028 (GRCm39) |
V92A |
probably benign |
Het |
Cdh20 |
A |
T |
1: 104,881,816 (GRCm39) |
|
probably benign |
Het |
Ctnnd2 |
A |
G |
15: 30,847,482 (GRCm39) |
N691S |
probably benign |
Het |
Ddx24 |
A |
C |
12: 103,390,717 (GRCm39) |
D2E |
possibly damaging |
Het |
Dennd5b |
A |
G |
6: 148,934,799 (GRCm39) |
S691P |
probably benign |
Het |
Dhrs3 |
C |
T |
4: 144,650,519 (GRCm39) |
R248W |
possibly damaging |
Het |
Dlgap1 |
T |
C |
17: 70,823,029 (GRCm39) |
S5P |
probably damaging |
Het |
Dnai4 |
A |
T |
4: 102,947,595 (GRCm39) |
I227K |
probably benign |
Het |
Ep300 |
A |
T |
15: 81,497,613 (GRCm39) |
M510L |
unknown |
Het |
Fbxo25 |
T |
C |
8: 13,973,922 (GRCm39) |
|
probably benign |
Het |
Gm3252 |
A |
T |
14: 4,743,741 (GRCm38) |
K193M |
possibly damaging |
Het |
Gtf3c1 |
T |
C |
7: 125,267,162 (GRCm39) |
|
probably null |
Het |
Helz2 |
T |
C |
2: 180,873,483 (GRCm39) |
D2337G |
probably damaging |
Het |
Idh1 |
A |
T |
1: 65,201,081 (GRCm39) |
M290K |
probably damaging |
Het |
Layn |
T |
C |
9: 50,985,317 (GRCm39) |
S80G |
probably damaging |
Het |
Ltbp4 |
C |
T |
7: 27,006,359 (GRCm39) |
E1440K |
probably damaging |
Het |
Mri1 |
T |
C |
8: 84,982,924 (GRCm39) |
T166A |
probably damaging |
Het |
Myod1 |
C |
T |
7: 46,027,730 (GRCm39) |
T290I |
probably benign |
Het |
Nfat5 |
T |
A |
8: 108,078,154 (GRCm39) |
L431* |
probably null |
Het |
Nle1 |
A |
T |
11: 82,795,133 (GRCm39) |
Y299* |
probably null |
Het |
Nlrp4c |
T |
A |
7: 6,069,828 (GRCm39) |
F576L |
possibly damaging |
Het |
Nudt21 |
G |
T |
8: 94,746,329 (GRCm39) |
S123* |
probably null |
Het |
Plekhg1 |
A |
C |
10: 3,895,916 (GRCm39) |
D436A |
probably damaging |
Het |
Plxna2 |
T |
C |
1: 194,326,732 (GRCm39) |
V222A |
probably damaging |
Het |
Ppp4r3c1 |
A |
C |
X: 88,975,518 (GRCm39) |
D226E |
probably damaging |
Het |
Rbm14 |
A |
G |
19: 4,851,745 (GRCm39) |
|
probably benign |
Het |
Scfd1 |
T |
A |
12: 51,436,164 (GRCm39) |
|
probably benign |
Het |
Slc34a2 |
A |
G |
5: 53,225,073 (GRCm39) |
T405A |
probably benign |
Het |
Spast |
G |
A |
17: 74,679,334 (GRCm39) |
|
probably benign |
Het |
Spen |
T |
C |
4: 141,205,457 (GRCm39) |
R1057G |
unknown |
Het |
Sptbn4 |
T |
G |
7: 27,065,132 (GRCm39) |
T2056P |
probably damaging |
Het |
Ssrp1 |
T |
C |
2: 84,870,705 (GRCm39) |
L148P |
probably damaging |
Het |
Tdrd6 |
T |
A |
17: 43,938,093 (GRCm39) |
H985L |
probably damaging |
Het |
Tmem44 |
A |
G |
16: 30,358,199 (GRCm39) |
|
probably benign |
Het |
Vmn2r116 |
T |
A |
17: 23,603,808 (GRCm39) |
L11Q |
probably null |
Het |
|
Other mutations in Slc39a9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01834:Slc39a9
|
APN |
12 |
80,720,073 (GRCm39) |
splice site |
probably benign |
|
IGL02226:Slc39a9
|
APN |
12 |
80,691,696 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02439:Slc39a9
|
APN |
12 |
80,713,350 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02709:Slc39a9
|
APN |
12 |
80,713,421 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03410:Slc39a9
|
APN |
12 |
80,691,662 (GRCm39) |
missense |
probably damaging |
1.00 |
R1753:Slc39a9
|
UTSW |
12 |
80,723,976 (GRCm39) |
missense |
probably damaging |
1.00 |
R1868:Slc39a9
|
UTSW |
12 |
80,726,297 (GRCm39) |
missense |
probably damaging |
1.00 |
R2191:Slc39a9
|
UTSW |
12 |
80,709,301 (GRCm39) |
missense |
probably damaging |
1.00 |
R2351:Slc39a9
|
UTSW |
12 |
80,691,660 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7336:Slc39a9
|
UTSW |
12 |
80,726,316 (GRCm39) |
missense |
probably damaging |
1.00 |
R7965:Slc39a9
|
UTSW |
12 |
80,713,450 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Slc39a9
|
UTSW |
12 |
80,724,074 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1191:Slc39a9
|
UTSW |
12 |
80,691,502 (GRCm39) |
start gained |
probably benign |
|
|
Posted On |
2015-04-16 |