Incidental Mutation 'IGL00538:Slc14a1'
| ID |
332561 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc14a1
|
| Ensembl Gene |
ENSMUSG00000059336 |
| Gene Name |
solute carrier family 14 (urea transporter), member 1 |
| Synonyms |
2610507K20Rik, UT-B, 3021401A05Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00538
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
78143306-78185334 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 78147288 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 313
(F313Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125367
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091813]
[ENSMUST00000160292]
[ENSMUST00000160639]
|
| AlphaFold |
Q8VHL0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091813
AA Change: F313Y
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000089421
Gene: ENSMUSG00000059336
AA Change: F313Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UT
|
52 |
356 |
1.6e-120 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160292
AA Change: F369Y
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000125114
Gene: ENSMUSG00000059336
AA Change: F369Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UT
|
110 |
405 |
6.3e-112 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160639
AA Change: F313Y
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125367
Gene: ENSMUSG00000059336
AA Change: F313Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UT
|
52 |
356 |
1.6e-120 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a membrane transporter that mediates urea transport in erythrocytes. This gene forms the basis for the Kidd blood group system. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for disruptions in this gene display a grossly normal phenotype although they have an inability to concentrate urea in urine. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl9 |
T |
A |
5: 77,151,903 (GRCm39) |
M1K |
probably null |
Het |
| Asf1a |
T |
C |
10: 53,482,227 (GRCm39) |
L13P |
probably damaging |
Het |
| Atg2b |
T |
G |
12: 105,611,175 (GRCm39) |
H1252P |
probably benign |
Het |
| Cacna2d1 |
C |
T |
5: 16,451,783 (GRCm39) |
R216* |
probably null |
Het |
| Cdc42ep3 |
G |
A |
17: 79,642,884 (GRCm39) |
A12V |
possibly damaging |
Het |
| Cntn3 |
G |
A |
6: 102,397,223 (GRCm39) |
Q117* |
probably null |
Het |
| Cyp3a41b |
G |
A |
5: 145,515,010 (GRCm39) |
|
probably benign |
Het |
| Dhx36 |
T |
C |
3: 62,408,466 (GRCm39) |
E124G |
probably benign |
Het |
| Galnt7 |
T |
A |
8: 58,005,556 (GRCm39) |
T226S |
possibly damaging |
Het |
| H2al3 |
T |
A |
X: 9,716,244 (GRCm39) |
|
probably benign |
Het |
| Ighv1-7 |
C |
A |
12: 114,502,381 (GRCm39) |
E29* |
probably null |
Het |
| Iqcb1 |
G |
T |
16: 36,678,948 (GRCm39) |
V421F |
probably benign |
Het |
| Lrrc8c |
G |
A |
5: 105,755,076 (GRCm39) |
V284I |
probably damaging |
Het |
| Rpp14 |
G |
A |
14: 8,083,934 (GRCm38) |
G30E |
possibly damaging |
Het |
| Samd9l |
A |
T |
6: 3,376,779 (GRCm39) |
Y161N |
probably damaging |
Het |
| Taco1 |
T |
A |
11: 105,962,805 (GRCm39) |
I164N |
probably damaging |
Het |
| Tenm3 |
G |
T |
8: 48,689,060 (GRCm39) |
H2176N |
probably damaging |
Het |
| Tmem156 |
T |
C |
5: 65,231,183 (GRCm39) |
Y165C |
probably damaging |
Het |
| Trpc7 |
A |
T |
13: 56,921,622 (GRCm39) |
N731K |
possibly damaging |
Het |
| Ubox5 |
T |
C |
2: 130,441,808 (GRCm39) |
N293S |
probably damaging |
Het |
|
| Other mutations in Slc14a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
Glen_eyrie
|
UTSW |
18 |
78,153,273 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1726:Slc14a1
|
UTSW |
18 |
78,159,681 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1889:Slc14a1
|
UTSW |
18 |
78,152,912 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1895:Slc14a1
|
UTSW |
18 |
78,152,912 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3946:Slc14a1
|
UTSW |
18 |
78,154,607 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4066:Slc14a1
|
UTSW |
18 |
78,154,592 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5511:Slc14a1
|
UTSW |
18 |
78,145,686 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5763:Slc14a1
|
UTSW |
18 |
78,159,629 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6228:Slc14a1
|
UTSW |
18 |
78,159,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6294:Slc14a1
|
UTSW |
18 |
78,153,273 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7157:Slc14a1
|
UTSW |
18 |
78,145,626 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7486:Slc14a1
|
UTSW |
18 |
78,154,739 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7657:Slc14a1
|
UTSW |
18 |
78,156,879 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8010:Slc14a1
|
UTSW |
18 |
78,159,704 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8028:Slc14a1
|
UTSW |
18 |
78,159,727 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8322:Slc14a1
|
UTSW |
18 |
78,145,656 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8347:Slc14a1
|
UTSW |
18 |
78,154,646 (GRCm39) |
missense |
probably benign |
|
|
R8996:Slc14a1
|
UTSW |
18 |
78,156,911 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R9058:Slc14a1
|
UTSW |
18 |
78,145,785 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9183:Slc14a1
|
UTSW |
18 |
78,154,598 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9490:Slc14a1
|
UTSW |
18 |
78,152,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9602:Slc14a1
|
UTSW |
18 |
78,152,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9603:Slc14a1
|
UTSW |
18 |
78,152,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9604:Slc14a1
|
UTSW |
18 |
78,152,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9605:Slc14a1
|
UTSW |
18 |
78,152,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9607:Slc14a1
|
UTSW |
18 |
78,152,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9609:Slc14a1
|
UTSW |
18 |
78,152,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9658:Slc14a1
|
UTSW |
18 |
78,152,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9660:Slc14a1
|
UTSW |
18 |
78,152,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9661:Slc14a1
|
UTSW |
18 |
78,152,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9663:Slc14a1
|
UTSW |
18 |
78,152,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9728:Slc14a1
|
UTSW |
18 |
78,152,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9730:Slc14a1
|
UTSW |
18 |
78,152,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9731:Slc14a1
|
UTSW |
18 |
78,152,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9733:Slc14a1
|
UTSW |
18 |
78,152,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9788:Slc14a1
|
UTSW |
18 |
78,152,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Slc14a1
|
UTSW |
18 |
78,147,275 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-08-05 |
Incidental Mutation