Incidental Mutation 'R9633:Slc22a14'
| ID |
725670 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R9633 (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 G
at 119008528 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 247
(S247P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091289
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093775]
[ENSMUST00000127794]
[ENSMUST00000170400]
|
| AlphaFold |
Q497L9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093775
AA Change: S247P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000091289
Gene: ENSMUSG00000070280
AA Change: S247P
| 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: ENSMUST00000170400
AA Change: S247P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000131982
Gene: ENSMUSG00000070280
AA Change: S247P
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot11 |
A |
G |
4: 106,613,178 (GRCm39) |
V319A |
probably damaging |
Het |
| Afap1l1 |
A |
C |
18: 61,890,795 (GRCm39) |
S53A |
possibly damaging |
Het |
| Alms1 |
T |
A |
6: 85,600,125 (GRCm39) |
N1650K |
probably damaging |
Het |
| Atf6b |
T |
A |
17: 34,872,507 (GRCm39) |
V553E |
possibly damaging |
Het |
| Avl9 |
T |
A |
6: 56,707,634 (GRCm39) |
I193N |
probably damaging |
Het |
| Ceacam3 |
A |
G |
7: 16,895,688 (GRCm39) |
N553D |
|
Het |
| Dnah3 |
C |
A |
7: 119,550,216 (GRCm39) |
V389L |
probably benign |
Het |
| Erich6 |
T |
C |
3: 58,537,277 (GRCm39) |
M246V |
probably benign |
Het |
| F830016B08Rik |
A |
T |
18: 60,432,965 (GRCm39) |
D16V |
probably damaging |
Het |
| Fgfr1 |
T |
A |
8: 26,060,776 (GRCm39) |
Y483N |
probably damaging |
Het |
| Fmo4 |
T |
A |
1: 162,631,191 (GRCm39) |
M259L |
probably benign |
Het |
| Gnat2 |
T |
A |
3: 108,002,770 (GRCm39) |
D59E |
probably benign |
Het |
| Izumo3 |
T |
A |
4: 92,034,795 (GRCm39) |
Y94F |
probably damaging |
Het |
| Kcnb2 |
A |
T |
1: 15,781,444 (GRCm39) |
H772L |
probably benign |
Het |
| Kcnrg |
CACAACAA |
CACAA |
14: 61,845,009 (GRCm39) |
|
probably benign |
Het |
| Krt6b |
C |
T |
15: 101,586,996 (GRCm39) |
V259M |
probably benign |
Het |
| Lingo2 |
A |
G |
4: 35,709,885 (GRCm39) |
C32R |
|
Het |
| Lrrtm4 |
C |
T |
6: 80,000,064 (GRCm39) |
T492M |
probably damaging |
Het |
| Maea |
T |
A |
5: 33,526,050 (GRCm39) |
M242K |
possibly damaging |
Het |
| Mdga2 |
T |
C |
12: 66,736,206 (GRCm39) |
T341A |
probably benign |
Het |
| Mfsd14b |
C |
A |
13: 65,221,414 (GRCm39) |
V293L |
probably benign |
Het |
| Mmadhc |
A |
T |
2: 50,178,988 (GRCm39) |
S143R |
probably benign |
Het |
| Ms4a8a |
A |
G |
19: 11,056,956 (GRCm39) |
V42A |
probably benign |
Het |
| N4bp2l2 |
A |
T |
5: 150,585,103 (GRCm39) |
H292Q |
probably benign |
Het |
| Nkx2-2 |
A |
G |
2: 147,027,686 (GRCm39) |
Y85H |
possibly damaging |
Het |
| Pramel14 |
T |
C |
4: 143,720,818 (GRCm39) |
K41R |
possibly damaging |
Het |
| Psmb9 |
T |
A |
17: 34,402,119 (GRCm39) |
D159V |
probably damaging |
Het |
| Rgs4 |
T |
A |
1: 169,572,843 (GRCm39) |
D31V |
possibly damaging |
Het |
| Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
| Slc26a7 |
G |
A |
4: 14,524,540 (GRCm39) |
T448I |
possibly damaging |
Het |
| Slc7a14 |
T |
A |
3: 31,278,166 (GRCm39) |
T480S |
probably benign |
Het |
| Spocd1 |
T |
C |
4: 129,850,463 (GRCm39) |
S830P |
unknown |
Het |
| Sycp2 |
A |
G |
2: 177,998,254 (GRCm39) |
S1089P |
probably damaging |
Het |
| Tcf4 |
A |
T |
18: 69,726,382 (GRCm39) |
|
probably benign |
Het |
| Tktl2 |
T |
C |
8: 66,965,813 (GRCm39) |
V457A |
probably benign |
Het |
| Tmem131 |
A |
T |
1: 36,847,069 (GRCm39) |
I1343N |
probably damaging |
Het |
| Tnrc6c |
G |
A |
11: 117,638,009 (GRCm39) |
A1164T |
probably damaging |
Het |
| Tomm5 |
G |
A |
4: 45,107,982 (GRCm39) |
R18W |
probably damaging |
Het |
| Ubxn7 |
T |
C |
16: 32,200,248 (GRCm39) |
S335P |
probably benign |
Het |
| Unc5c |
A |
C |
3: 141,495,654 (GRCm39) |
T508P |
probably damaging |
Het |
| Upp1 |
G |
A |
11: 9,084,909 (GRCm39) |
M209I |
|
Het |
| Vmn1r213 |
A |
G |
13: 23,195,519 (GRCm39) |
D34G |
unknown |
Het |
| Vmn1r235 |
G |
T |
17: 21,482,330 (GRCm39) |
W218C |
possibly damaging |
Het |
| Vmn1r235 |
G |
T |
17: 21,482,329 (GRCm39) |
W218L |
probably benign |
Het |
| Vmn2r57 |
T |
C |
7: 41,076,006 (GRCm39) |
E502G |
probably benign |
Het |
| Wwc2 |
GCC |
GCCC |
8: 48,304,959 (GRCm39) |
|
probably null |
Het |
| Zfc3h1 |
T |
A |
10: 115,247,852 (GRCm39) |
H1018Q |
probably damaging |
Het |
| Zfp318 |
T |
A |
17: 46,710,421 (GRCm39) |
S715T |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACTAGGAGTGGTGTCGGTTAC -3'
(R):5'- TCCAAAGCCCTGTGGTAAC -3'
Sequencing Primer
(F):5'- AGTGGTGTCGGTTACTCCCTC -3'
(R):5'- TGTGTAGCCACGTAGCCACTG -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation