Incidental Mutation 'R6622:Slc22a14'
| ID |
524542 |
| Institutional Source |
Beutler Lab
|
| 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: 0.050)
|
| Stock # |
R6622 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
118998521-119019496 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 118999643 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 516
(I516S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131982
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093775]
[ENSMUST00000170400]
|
| AlphaFold |
Q497L9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093775
AA Change: I516S
PolyPhen 2
Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000091289
Gene: ENSMUSG00000070280
AA Change: I516S
| 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 |
unknown
Transcript: ENSMUST00000152061
AA Change: I90S
|
| SMART Domains |
Protein: ENSMUSP00000117967
Gene: ENSMUSG00000070280
AA Change: I90S
| 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: I516S
PolyPhen 2
Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000131982
Gene: ENSMUSG00000070280
AA Change: I516S
| 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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.4%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl3 |
A |
C |
5: 81,942,606 (GRCm39) |
D1412A |
probably benign |
Het |
| Arhgap26 |
A |
G |
18: 39,032,916 (GRCm39) |
|
probably benign |
Het |
| Card14 |
A |
G |
11: 119,224,814 (GRCm39) |
M614V |
probably benign |
Het |
| Cbx2 |
A |
G |
11: 118,919,961 (GRCm39) |
T509A |
probably damaging |
Het |
| Cep135 |
A |
G |
5: 76,788,815 (GRCm39) |
D1136G |
probably benign |
Het |
| Cep170 |
T |
A |
1: 176,583,898 (GRCm39) |
Q827L |
probably damaging |
Het |
| Clock |
A |
T |
5: 76,389,801 (GRCm39) |
I349K |
probably damaging |
Het |
| Cnppd1 |
A |
T |
1: 75,113,539 (GRCm39) |
V243E |
probably damaging |
Het |
| Cops3 |
A |
G |
11: 59,723,960 (GRCm39) |
F93L |
probably damaging |
Het |
| Cplane1 |
C |
A |
15: 8,273,706 (GRCm39) |
A2563D |
probably damaging |
Het |
| Cxxc5 |
T |
G |
18: 35,992,372 (GRCm39) |
C258G |
possibly damaging |
Het |
| Cycs |
G |
A |
6: 50,543,443 (GRCm39) |
|
probably benign |
Het |
| Cyp2c40 |
A |
T |
19: 39,790,990 (GRCm39) |
H280Q |
probably damaging |
Het |
| Cyp4f14 |
C |
T |
17: 33,133,619 (GRCm39) |
R79H |
probably benign |
Het |
| Dnajc27 |
A |
G |
12: 4,153,114 (GRCm39) |
S197G |
probably benign |
Het |
| Dscam |
C |
T |
16: 96,446,273 (GRCm39) |
G1456E |
probably benign |
Het |
| Dst |
G |
A |
1: 34,218,332 (GRCm39) |
V1591I |
probably benign |
Het |
| Epha5 |
A |
G |
5: 84,385,387 (GRCm39) |
S315P |
possibly damaging |
Het |
| Frmd4a |
A |
G |
2: 4,610,873 (GRCm39) |
T1012A |
probably benign |
Het |
| Fxr2 |
G |
A |
11: 69,532,416 (GRCm39) |
|
probably null |
Het |
| Hcn4 |
T |
A |
9: 58,765,010 (GRCm39) |
V534E |
unknown |
Het |
| Hrh4 |
A |
G |
18: 13,155,454 (GRCm39) |
Y331C |
probably damaging |
Het |
| Insyn1 |
A |
G |
9: 58,406,533 (GRCm39) |
I148V |
probably benign |
Het |
| Kif16b |
T |
A |
2: 142,554,362 (GRCm39) |
H812L |
probably benign |
Het |
| Krt14 |
T |
A |
11: 100,094,786 (GRCm39) |
R451S |
probably benign |
Het |
| Man2b1 |
A |
G |
8: 85,811,108 (GRCm39) |
T80A |
probably damaging |
Het |
| Nedd4l |
A |
G |
18: 65,307,305 (GRCm39) |
T383A |
probably damaging |
Het |
| Pcdha9 |
T |
A |
18: 37,131,707 (GRCm39) |
L259M |
possibly damaging |
Het |
| Pdgfd |
T |
C |
9: 6,293,818 (GRCm39) |
C131R |
probably damaging |
Het |
| Prrc2a |
C |
G |
17: 35,374,396 (GRCm39) |
R1418P |
probably damaging |
Het |
| Ptpra |
G |
T |
2: 30,327,589 (GRCm39) |
E114D |
probably damaging |
Het |
| Ptprt |
A |
T |
2: 161,395,760 (GRCm39) |
C1157S |
probably damaging |
Het |
| Rnf126 |
A |
T |
10: 79,597,397 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
G |
A |
7: 97,229,117 (GRCm39) |
|
probably benign |
Het |
| Sel1l3 |
A |
G |
5: 53,297,202 (GRCm39) |
V748A |
probably damaging |
Het |
| Serinc5 |
T |
A |
13: 92,825,194 (GRCm39) |
S208T |
probably benign |
Het |
| Sftpb |
A |
G |
6: 72,282,639 (GRCm39) |
I74V |
possibly damaging |
Het |
| Slco2a1 |
G |
A |
9: 102,951,704 (GRCm39) |
C411Y |
possibly damaging |
Het |
| Spata31f1e |
T |
A |
4: 42,793,111 (GRCm39) |
L340F |
probably damaging |
Het |
| Tent5a |
G |
T |
9: 85,208,509 (GRCm39) |
R105S |
probably damaging |
Het |
| Tet3 |
G |
A |
6: 83,380,426 (GRCm39) |
P581S |
probably benign |
Het |
| Tmem231 |
T |
C |
8: 112,645,563 (GRCm39) |
D112G |
probably damaging |
Het |
| Tnrc6b |
T |
A |
15: 80,763,385 (GRCm39) |
W296R |
probably damaging |
Het |
| Trpm1 |
T |
A |
7: 63,890,343 (GRCm39) |
L982H |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,550,862 (GRCm39) |
R23183I |
possibly damaging |
Het |
| Tuft1 |
T |
A |
3: 94,542,726 (GRCm39) |
Y46F |
probably damaging |
Het |
| Vmn1r167 |
T |
A |
7: 23,205,014 (GRCm39) |
M1L |
probably null |
Het |
| Zfp808 |
A |
G |
13: 62,319,646 (GRCm39) |
R292G |
possibly damaging |
Het |
| Zp2 |
T |
C |
7: 119,731,748 (GRCm39) |
E669G |
probably benign |
Het |
| Zp2 |
C |
T |
7: 119,741,136 (GRCm39) |
M129I |
probably benign |
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 |
119,008,934 (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 |
|
|
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'- TGATGGACAGTATCTGACACAC -3'
(R):5'- ACTAGGTTGGAGAACTGGGTTC -3'
Sequencing Primer
(F):5'- CTCTATTCCCAGAGCTTGAGACAAGG -3'
(R):5'- CTGGGTTCTCTAAGGTCAAACACTG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation