Incidental Mutation 'IGL00338:Slc22a14'
| ID |
4793 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc22a14
|
| Ensembl Gene |
ENSMUSG00000070280 |
| Gene Name |
solute carrier family 22 (organic cation transporter), member 14 |
| Synonyms |
LOC382113 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
IGL00338
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
118998521-119019496 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 119007579 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 277
(F277L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131982
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093775]
[ENSMUST00000127794]
[ENSMUST00000170400]
|
| AlphaFold |
Q497L9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093775
AA Change: F277L
PolyPhen 2
Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000091289
Gene: ENSMUSG00000070280
AA Change: F277L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
68 |
90 |
N/A |
INTRINSIC |
|
Pfam:Sugar_tr
|
156 |
556 |
1.3e-28 |
PFAM |
|
Pfam:MFS_1
|
178 |
514 |
7.8e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127794
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152061
|
| SMART Domains |
Protein: ENSMUSP00000117967
Gene: ENSMUSG00000070280
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
73 |
92 |
N/A |
INTRINSIC |
|
transmembrane domain
|
99 |
118 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170400
AA Change: F277L
PolyPhen 2
Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000131982
Gene: ENSMUSG00000070280
AA Change: F277L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
68 |
90 |
N/A |
INTRINSIC |
|
Pfam:Sugar_tr
|
150 |
555 |
1.2e-28 |
PFAM |
|
Pfam:MFS_1
|
178 |
514 |
7.6e-28 |
PFAM |
|
| Coding Region Coverage |
|
| 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 the organic-cation transporter family. It is located in a gene cluster with another member of the family, organic cation transporter like 3. The encoded protein is a transmembrane protein which is thought to transport small molecules and since this protein is conserved among several species, it is suggested to have a fundamental role in mammalian systems. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd11 |
A |
G |
5: 135,040,839 (GRCm39) |
D217G |
probably benign |
Het |
| Ankar |
T |
A |
1: 72,729,290 (GRCm39) |
Y285F |
probably damaging |
Het |
| Ano8 |
C |
A |
8: 71,936,902 (GRCm39) |
|
probably benign |
Het |
| Bche |
A |
G |
3: 73,608,640 (GRCm39) |
V262A |
probably benign |
Het |
| Car13 |
T |
C |
3: 14,721,964 (GRCm39) |
|
probably benign |
Het |
| Cd244a |
T |
A |
1: 171,401,938 (GRCm39) |
|
probably null |
Het |
| Cfap157 |
T |
C |
2: 32,671,395 (GRCm39) |
D137G |
probably damaging |
Het |
| Cobl |
T |
C |
11: 12,325,813 (GRCm39) |
R119G |
possibly damaging |
Het |
| Gm4553 |
T |
C |
7: 141,718,964 (GRCm39) |
S155G |
unknown |
Het |
| Gp2 |
A |
G |
7: 119,053,613 (GRCm39) |
M116T |
probably damaging |
Het |
| Gp5 |
C |
A |
16: 30,127,640 (GRCm39) |
A345S |
probably benign |
Het |
| Gphn |
A |
T |
12: 78,551,406 (GRCm39) |
I285F |
probably damaging |
Het |
| Heatr5b |
A |
G |
17: 79,110,863 (GRCm39) |
V995A |
probably damaging |
Het |
| Hecw2 |
T |
C |
1: 53,867,040 (GRCm39) |
|
probably benign |
Het |
| Hydin |
C |
A |
8: 111,296,434 (GRCm39) |
N3654K |
possibly damaging |
Het |
| Inpp5b |
A |
G |
4: 124,678,168 (GRCm39) |
Y440C |
possibly damaging |
Het |
| Or4a47 |
A |
T |
2: 89,665,802 (GRCm39) |
Y162* |
probably null |
Het |
| Pphln1 |
A |
G |
15: 93,363,091 (GRCm39) |
K306E |
probably damaging |
Het |
| Rnf26 |
A |
C |
9: 44,024,156 (GRCm39) |
S31A |
probably benign |
Het |
| Ros1 |
A |
T |
10: 52,001,907 (GRCm39) |
S1072T |
probably benign |
Het |
| Skic2 |
A |
G |
17: 35,065,643 (GRCm39) |
W304R |
probably damaging |
Het |
| Slc22a26 |
A |
T |
19: 7,760,340 (GRCm39) |
L468I |
probably benign |
Het |
| Tchh |
C |
T |
3: 93,354,951 (GRCm39) |
L1464F |
unknown |
Het |
| Tmem260 |
C |
T |
14: 48,715,093 (GRCm39) |
T249M |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,804,409 (GRCm39) |
S288P |
probably damaging |
Het |
| Usp17lc |
A |
G |
7: 103,068,148 (GRCm39) |
H481R |
possibly damaging |
Het |
| Vps50 |
C |
T |
6: 3,602,670 (GRCm39) |
T929M |
probably benign |
Het |
| Zdhhc8 |
A |
G |
16: 18,043,060 (GRCm39) |
L380P |
possibly damaging |
Het |
|
| Other mutations in Slc22a14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0086:Slc22a14
|
UTSW |
9 |
119,051,804 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R0505:Slc22a14
|
UTSW |
9 |
119,001,100 (GRCm39) |
splice site |
probably benign |
|
|
R0593:Slc22a14
|
UTSW |
9 |
118,998,919 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0597:Slc22a14
|
UTSW |
9 |
119,001,190 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0674:Slc22a14
|
UTSW |
9 |
119,007,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1290:Slc22a14
|
UTSW |
9 |
119,007,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1459:Slc22a14
|
UTSW |
9 |
119,052,827 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1706:Slc22a14
|
UTSW |
9 |
119,010,050 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3980:Slc22a14
|
UTSW |
9 |
119,007,552 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4166:Slc22a14
|
UTSW |
9 |
119,008,934 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4166:Slc22a14
|
UTSW |
9 |
119,007,498 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4574:Slc22a14
|
UTSW |
9 |
119,008,561 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4959:Slc22a14
|
UTSW |
9 |
119,003,101 (GRCm39) |
small deletion |
probably benign |
|
|
R4973:Slc22a14
|
UTSW |
9 |
119,003,101 (GRCm39) |
small deletion |
probably benign |
|
|
R5273:Slc22a14
|
UTSW |
9 |
118,999,704 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5330:Slc22a14
|
UTSW |
9 |
119,059,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5331:Slc22a14
|
UTSW |
9 |
119,059,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5543:Slc22a14
|
UTSW |
9 |
119,002,674 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5801:Slc22a14
|
UTSW |
9 |
119,001,149 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6521:Slc22a14
|
UTSW |
9 |
119,049,835 (GRCm39) |
splice site |
probably null |
|
|
R6622:Slc22a14
|
UTSW |
9 |
118,999,643 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6948:Slc22a14
|
UTSW |
9 |
119,060,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7027:Slc22a14
|
UTSW |
9 |
119,060,281 (GRCm39) |
splice site |
probably null |
|
|
R7731:Slc22a14
|
UTSW |
9 |
118,999,677 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7985:Slc22a14
|
UTSW |
9 |
118,999,704 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8412:Slc22a14
|
UTSW |
9 |
119,009,922 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8508:Slc22a14
|
UTSW |
9 |
119,009,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8674:Slc22a14
|
UTSW |
9 |
119,007,467 (GRCm39) |
missense |
probably null |
1.00 |
|
R8773:Slc22a14
|
UTSW |
9 |
119,059,290 (GRCm39) |
intron |
probably benign |
|
|
R8950:Slc22a14
|
UTSW |
9 |
118,998,778 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9484:Slc22a14
|
UTSW |
9 |
119,009,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9633:Slc22a14
|
UTSW |
9 |
119,008,528 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation