Incidental Mutation 'R8674:Slc22a14'
| ID |
661307 |
| 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 |
068529-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R8674 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
118998521-119019496 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 119007467 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Leucine
at position 314
(W314L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091289
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093775]
[ENSMUST00000127794]
[ENSMUST00000170400]
|
| AlphaFold |
Q497L9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000093775
AA Change: W314L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091289
Gene: ENSMUSG00000070280
AA Change: W314L
| 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 |
probably damaging
Transcript: ENSMUST00000170400
AA Change: W314L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131982
Gene: ENSMUSG00000070280
AA Change: W314L
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (38/38) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447C04Rik |
T |
C |
12: 72,956,696 (GRCm39) |
I165V |
probably benign |
Het |
| Adgrg1 |
A |
T |
8: 95,727,526 (GRCm39) |
|
probably benign |
Het |
| Ahnak |
T |
C |
19: 8,983,360 (GRCm39) |
I1548T |
probably damaging |
Het |
| Alox12b |
A |
G |
11: 69,054,801 (GRCm39) |
Y268C |
possibly damaging |
Het |
| Chd8 |
T |
C |
14: 52,450,463 (GRCm39) |
D1465G |
probably damaging |
Het |
| Csgalnact1 |
A |
G |
8: 68,826,268 (GRCm39) |
V350A |
possibly damaging |
Het |
| Cyp4a29 |
A |
T |
4: 115,106,882 (GRCm39) |
I180F |
probably benign |
Het |
| Dcaf1 |
T |
A |
9: 106,740,896 (GRCm39) |
D1294E |
probably damaging |
Het |
| Defb47 |
T |
C |
14: 63,235,579 (GRCm39) |
L10P |
possibly damaging |
Het |
| Gpr179 |
T |
C |
11: 97,225,873 (GRCm39) |
E2094G |
probably benign |
Het |
| Gtse1 |
C |
A |
15: 85,746,376 (GRCm39) |
P64Q |
probably damaging |
Het |
| Gys2 |
A |
G |
6: 142,376,048 (GRCm39) |
V538A |
probably benign |
Het |
| Hmgxb3 |
G |
A |
18: 61,269,303 (GRCm39) |
S993L |
probably benign |
Het |
| Lgals8 |
A |
T |
13: 12,462,117 (GRCm39) |
F238I |
probably damaging |
Het |
| Ltn1 |
A |
C |
16: 87,195,673 (GRCm39) |
D1284E |
probably benign |
Het |
| Myh10 |
A |
G |
11: 68,705,257 (GRCm39) |
E1925G |
probably damaging |
Het |
| Nck1 |
T |
C |
9: 100,390,580 (GRCm39) |
N43S |
probably damaging |
Het |
| Nsun5 |
C |
A |
5: 135,400,394 (GRCm39) |
T145N |
probably damaging |
Het |
| Or10d1 |
T |
C |
9: 39,484,249 (GRCm39) |
Y102C |
probably damaging |
Het |
| Or10d3 |
A |
G |
9: 39,461,675 (GRCm39) |
F164S |
probably damaging |
Het |
| Or10x4 |
A |
G |
1: 174,219,258 (GRCm39) |
T208A |
probably damaging |
Het |
| Or4c103 |
T |
A |
2: 88,513,774 (GRCm39) |
T101S |
probably benign |
Het |
| Pmpca |
G |
C |
2: 26,285,046 (GRCm39) |
E424Q |
possibly damaging |
Het |
| Ppp4r4 |
A |
G |
12: 103,562,720 (GRCm39) |
E563G |
probably damaging |
Het |
| Pramel42 |
T |
C |
5: 94,685,605 (GRCm39) |
C422R |
probably damaging |
Het |
| Rab11fip5 |
T |
A |
6: 85,318,910 (GRCm39) |
M660L |
probably benign |
Het |
| Rbm47 |
T |
A |
5: 66,176,742 (GRCm39) |
N527I |
possibly damaging |
Het |
| Rpl12 |
T |
A |
2: 32,852,122 (GRCm39) |
|
probably benign |
Het |
| Spen |
C |
T |
4: 141,197,681 (GRCm39) |
A3396T |
probably benign |
Het |
| Sphkap |
A |
G |
1: 83,255,565 (GRCm39) |
V728A |
probably benign |
Het |
| Spint4 |
T |
A |
2: 164,542,902 (GRCm39) |
|
probably null |
Het |
| Sptbn1 |
A |
G |
11: 30,089,352 (GRCm39) |
S637P |
possibly damaging |
Het |
| Trpm7 |
T |
C |
2: 126,641,086 (GRCm39) |
|
probably benign |
Het |
| Trrap |
C |
T |
5: 144,727,842 (GRCm39) |
T521I |
probably benign |
Het |
| Vmn2r44 |
T |
C |
7: 8,380,822 (GRCm39) |
Y357C |
probably damaging |
Het |
| Vwa2 |
A |
G |
19: 56,875,427 (GRCm39) |
D82G |
possibly damaging |
Het |
| Zdhhc17 |
A |
G |
10: 110,785,540 (GRCm39) |
I424T |
probably benign |
Het |
| Zmiz1 |
A |
G |
14: 25,647,410 (GRCm39) |
I409M |
probably benign |
Het |
| Zscan18 |
T |
C |
7: 12,504,827 (GRCm39) |
|
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 |
|
|
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 |
|
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'- CAAGGCCATCCTGCAATTTCC -3'
(R):5'- TCATGTTCTCTGCACAGTCATGG -3'
Sequencing Primer
(F):5'- ATCAGCCCTGACCTTTGCTTG -3'
(R):5'- CTCTGCACAGTCATGGAGTGG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation