Incidental Mutation 'R0593:Slc22a14'
| ID |
56064 |
| 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 |
038783-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R0593 (G1)
|
| Quality Score |
191 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
118998521-119019496 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 118998919 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 561
(D561V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131982
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093775]
[ENSMUST00000170400]
|
| AlphaFold |
Q497L9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093775
AA Change: D561V
PolyPhen 2
Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000091289
Gene: ENSMUSG00000070280
AA Change: D561V
| 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: D135V
|
| SMART Domains |
Protein: ENSMUSP00000117967
Gene: ENSMUSG00000070280
AA Change: D135V
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
73 |
92 |
N/A |
INTRINSIC |
|
transmembrane domain
|
99 |
118 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170400
AA Change: D561V
PolyPhen 2
Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000131982
Gene: ENSMUSG00000070280
AA Change: D561V
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 96.9%
- 20x: 93.4%
|
| Validation Efficiency |
100% (39/39) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
T |
C |
11: 109,958,925 (GRCm39) |
D733G |
probably damaging |
Het |
| Acmsd |
T |
C |
1: 127,666,340 (GRCm39) |
|
probably benign |
Het |
| Adam34 |
T |
C |
8: 44,104,724 (GRCm39) |
Y307C |
possibly damaging |
Het |
| Alox12e |
A |
G |
11: 70,211,723 (GRCm39) |
|
probably benign |
Het |
| Ankrd50 |
C |
A |
3: 38,537,156 (GRCm39) |
G29* |
probably null |
Het |
| Arhgap17 |
T |
C |
7: 122,885,966 (GRCm39) |
|
probably benign |
Het |
| Asah1 |
A |
G |
8: 41,802,619 (GRCm39) |
M141T |
probably benign |
Het |
| Atg2a |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
19: 6,295,037 (GRCm39) |
|
probably benign |
Het |
| Bsn |
A |
T |
9: 107,987,505 (GRCm39) |
I2749N |
unknown |
Het |
| Cds2 |
G |
A |
2: 132,139,296 (GRCm39) |
|
probably benign |
Het |
| Ckmt2 |
A |
G |
13: 92,001,757 (GRCm39) |
V384A |
probably damaging |
Het |
| Clock |
A |
G |
5: 76,413,683 (GRCm39) |
S71P |
probably benign |
Het |
| Cops6 |
A |
G |
5: 138,161,842 (GRCm39) |
T96A |
probably benign |
Het |
| Csnka2ip |
A |
T |
16: 64,298,975 (GRCm39) |
V19D |
probably damaging |
Het |
| Dcaf17 |
T |
A |
2: 70,917,744 (GRCm39) |
|
probably null |
Het |
| Dscam |
T |
C |
16: 96,573,608 (GRCm39) |
K785E |
probably benign |
Het |
| Eif2d |
T |
A |
1: 131,083,465 (GRCm39) |
|
probably benign |
Het |
| Gal3st2b |
T |
C |
1: 93,868,549 (GRCm39) |
V258A |
probably benign |
Het |
| Gucy2c |
T |
C |
6: 136,705,333 (GRCm39) |
N534S |
probably damaging |
Het |
| Hook1 |
C |
T |
4: 95,887,023 (GRCm39) |
T210I |
possibly damaging |
Het |
| Ifi203 |
T |
C |
1: 173,756,215 (GRCm39) |
|
probably benign |
Het |
| Irf7 |
T |
C |
7: 140,844,975 (GRCm39) |
|
probably benign |
Het |
| Lrp2 |
C |
T |
2: 69,297,350 (GRCm39) |
V3204I |
probably benign |
Het |
| Mtx2 |
A |
G |
2: 74,699,780 (GRCm39) |
|
probably benign |
Het |
| Nelfcd |
G |
T |
2: 174,265,223 (GRCm39) |
V248L |
probably benign |
Het |
| Oosp1 |
T |
C |
19: 11,645,776 (GRCm39) |
S121G |
probably benign |
Het |
| Or10am5 |
T |
A |
7: 6,517,808 (GRCm39) |
N207Y |
probably benign |
Het |
| Sec16b |
G |
C |
1: 157,359,718 (GRCm39) |
G164R |
probably benign |
Het |
| Tet2 |
G |
A |
3: 133,193,870 (GRCm39) |
T188I |
probably benign |
Het |
| Tex10 |
C |
T |
4: 48,456,800 (GRCm39) |
R637Q |
probably benign |
Het |
| Trp53bp1 |
A |
G |
2: 121,101,009 (GRCm39) |
V63A |
possibly damaging |
Het |
| Ube2d2a |
T |
G |
18: 35,903,438 (GRCm39) |
|
probably benign |
Het |
| Vmn1r113 |
T |
A |
7: 20,521,388 (GRCm39) |
V60E |
probably 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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAGTGAATCACAAGTCAGCACCC -3'
(R):5'- AATGTAGCAAGCCTGAGCCTGAAG -3'
Sequencing Primer
(F):5'- GTCTAGAACTTGAGGCCATGAATC -3'
(R):5'- AGATAACTCTCCTCATGGACTATGC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation