Incidental Mutation 'R4166:Slc22a14'
| ID |
320591 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc22a14
|
| Ensembl Gene |
ENSMUSG00000070280 |
| Gene Name |
solute carrier family 22 (organic cation transporter), member 14 |
| Synonyms |
LOC382113 |
| MMRRC Submission |
041639-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R4166 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
118998521-119019496 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 119008934 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 178
(N178S)
|
| 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: N178S
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000091289
Gene: ENSMUSG00000070280
AA Change: N178S
| 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 |
possibly damaging
Transcript: ENSMUST00000170400
AA Change: N178S
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000131982
Gene: ENSMUSG00000070280
AA Change: N178S
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.8%
|
| Validation Efficiency |
100% (56/56) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
C |
14: 32,382,912 (GRCm39) |
T1018A |
possibly damaging |
Het |
| Aak1 |
T |
A |
6: 86,827,044 (GRCm39) |
F4I |
probably damaging |
Het |
| Adamts8 |
G |
T |
9: 30,862,684 (GRCm39) |
E296D |
probably benign |
Het |
| Ankrd35 |
T |
A |
3: 96,586,471 (GRCm39) |
|
probably null |
Het |
| Arhgap20 |
G |
A |
9: 51,738,135 (GRCm39) |
|
probably null |
Het |
| Bhmt |
T |
A |
13: 93,762,007 (GRCm39) |
|
probably benign |
Het |
| Cacna1b |
C |
A |
2: 24,567,923 (GRCm39) |
R1055L |
probably benign |
Het |
| Cdk5r1 |
A |
G |
11: 80,369,035 (GRCm39) |
Y234C |
probably damaging |
Het |
| Cdx2 |
G |
T |
5: 147,243,539 (GRCm39) |
A85D |
possibly damaging |
Het |
| Cenpe |
G |
A |
3: 134,949,479 (GRCm39) |
G88D |
probably damaging |
Het |
| Cfap300 |
A |
T |
9: 8,026,071 (GRCm39) |
L167Q |
probably damaging |
Het |
| Dennd5a |
A |
C |
7: 109,526,032 (GRCm39) |
|
probably null |
Het |
| Erich6 |
G |
A |
3: 58,526,229 (GRCm39) |
A591V |
probably damaging |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Fbln5 |
A |
G |
12: 101,723,618 (GRCm39) |
V374A |
probably damaging |
Het |
| Fmn1 |
G |
A |
2: 113,467,080 (GRCm39) |
S1327N |
probably benign |
Het |
| Fnip2 |
A |
T |
3: 79,369,442 (GRCm39) |
V1081E |
probably damaging |
Het |
| Gm5174 |
A |
G |
10: 86,492,797 (GRCm39) |
|
noncoding transcript |
Het |
| Gpaa1 |
A |
C |
15: 76,216,667 (GRCm39) |
|
probably benign |
Het |
| Grina |
T |
A |
15: 76,133,529 (GRCm39) |
L334Q |
probably damaging |
Het |
| Gulp1 |
T |
A |
1: 44,747,829 (GRCm39) |
Y27* |
probably null |
Het |
| Kdm3b |
A |
T |
18: 34,928,797 (GRCm39) |
I183F |
probably benign |
Het |
| Loxhd1 |
A |
T |
18: 77,460,025 (GRCm39) |
I758F |
probably damaging |
Het |
| Msi2 |
T |
C |
11: 88,237,914 (GRCm39) |
H346R |
probably benign |
Het |
| Naip6 |
T |
A |
13: 100,452,657 (GRCm39) |
I135F |
probably benign |
Het |
| Npr3 |
T |
G |
15: 11,848,599 (GRCm39) |
E202A |
probably benign |
Het |
| Nsun4 |
A |
T |
4: 115,891,248 (GRCm39) |
L377Q |
probably damaging |
Het |
| Oog2 |
A |
C |
4: 143,921,411 (GRCm39) |
H107P |
probably damaging |
Het |
| Or14c40 |
C |
A |
7: 86,313,602 (GRCm39) |
T244N |
probably damaging |
Het |
| Otof |
A |
G |
5: 30,539,762 (GRCm39) |
L1032P |
probably damaging |
Het |
| Pcdh9 |
T |
A |
14: 94,124,956 (GRCm39) |
R405* |
probably null |
Het |
| Pcdhb19 |
T |
A |
18: 37,632,243 (GRCm39) |
N679K |
probably benign |
Het |
| Pigr |
G |
A |
1: 130,769,554 (GRCm39) |
D122N |
probably benign |
Het |
| Prol1 |
A |
T |
5: 88,476,530 (GRCm39) |
I307F |
unknown |
Het |
| Pycr1 |
T |
C |
11: 120,532,949 (GRCm39) |
I104V |
probably benign |
Het |
| Ralgapa1 |
C |
T |
12: 55,687,429 (GRCm39) |
R2019Q |
probably damaging |
Het |
| Rb1cc1 |
T |
C |
1: 6,335,887 (GRCm39) |
|
probably benign |
Het |
| Skint11 |
C |
A |
4: 114,101,856 (GRCm39) |
Q99K |
probably benign |
Het |
| Skint3 |
A |
G |
4: 112,112,832 (GRCm39) |
I147M |
possibly damaging |
Het |
| Slc2a1 |
T |
G |
4: 118,990,313 (GRCm39) |
I179S |
probably damaging |
Het |
| Slco2b1 |
G |
T |
7: 99,309,333 (GRCm39) |
T666N |
probably benign |
Het |
| Smap1 |
T |
C |
1: 23,887,506 (GRCm39) |
M258V |
probably benign |
Het |
| Smr3a |
A |
T |
5: 88,156,013 (GRCm39) |
|
probably benign |
Het |
| Stt3b |
T |
A |
9: 115,083,969 (GRCm39) |
E402D |
probably damaging |
Het |
| Sync |
T |
C |
4: 129,200,535 (GRCm39) |
|
probably benign |
Het |
| Tbx20 |
T |
A |
9: 24,681,040 (GRCm39) |
I151F |
probably damaging |
Het |
| Tomm22 |
C |
A |
15: 79,555,206 (GRCm39) |
|
probably benign |
Het |
| Trank1 |
C |
A |
9: 111,202,592 (GRCm39) |
Y1652* |
probably null |
Het |
| Trim34a |
T |
A |
7: 103,910,223 (GRCm39) |
C342S |
probably benign |
Het |
| Txnl4a |
T |
A |
18: 80,265,471 (GRCm39) |
M112K |
probably benign |
Het |
| Zfp146 |
A |
G |
7: 29,861,865 (GRCm39) |
V59A |
possibly damaging |
Het |
|
| Other mutations in Slc22a14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00338:Slc22a14
|
APN |
9 |
119,007,579 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
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 |
119,007,498 (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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGTTACCACAGGGCTTTGGAG -3'
(R):5'- TTAAGTTGAGGGCCCTAGGG -3'
Sequencing Primer
(F):5'- ACAGGGCTTTGGAGAGTCC -3'
(R):5'- GTTCTCAACCTGTGGGCCATG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation