Incidental Mutation 'R9603:Slc14a1'
ID |
723810 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc14a1
|
Ensembl Gene |
ENSMUSG00000059336 |
Gene Name |
solute carrier family 14 (urea transporter), member 1 |
Synonyms |
2610507K20Rik, UT-B, 3021401A05Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9603 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
78143306-78185334 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 78152807 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 367
(A367S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125114
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091813]
[ENSMUST00000160292]
[ENSMUST00000160639]
|
AlphaFold |
Q8VHL0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000091813
AA Change: A311S
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000089421 Gene: ENSMUSG00000059336 AA Change: A311S
Domain | Start | End | E-Value | Type |
Pfam:UT
|
52 |
356 |
1.6e-120 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000160292
AA Change: A367S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000125114 Gene: ENSMUSG00000059336 AA Change: A367S
Domain | Start | End | E-Value | Type |
Pfam:UT
|
110 |
405 |
6.3e-112 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000160639
AA Change: A311S
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000125367 Gene: ENSMUSG00000059336 AA Change: A311S
Domain | Start | End | E-Value | Type |
Pfam:UT
|
52 |
356 |
1.6e-120 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl6 |
A |
T |
11: 54,225,911 (GRCm39) |
N317I |
probably damaging |
Het |
Adam18 |
T |
A |
8: 25,118,147 (GRCm39) |
S590C |
possibly damaging |
Het |
Btrc |
G |
A |
19: 45,459,526 (GRCm39) |
E103K |
probably benign |
Het |
Cars1 |
A |
G |
7: 143,112,929 (GRCm39) |
M766T |
possibly damaging |
Het |
Cavin4 |
T |
C |
4: 48,671,999 (GRCm39) |
V148A |
probably benign |
Het |
Cdcp3 |
T |
C |
7: 130,830,643 (GRCm39) |
V359A |
probably damaging |
Het |
Cdkn2d |
T |
C |
9: 21,202,139 (GRCm39) |
D36G |
possibly damaging |
Het |
Cubn |
A |
T |
2: 13,292,510 (GRCm39) |
D3224E |
probably damaging |
Het |
Ebf1 |
A |
G |
11: 44,509,006 (GRCm39) |
M1V |
probably null |
Het |
Eif1ad7 |
T |
G |
12: 88,238,727 (GRCm39) |
N11T |
unknown |
Het |
Fcgbp |
A |
G |
7: 27,802,563 (GRCm39) |
D1497G |
probably damaging |
Het |
Foxs1 |
A |
C |
2: 152,774,281 (GRCm39) |
C257W |
probably damaging |
Het |
Fstl5 |
C |
T |
3: 76,496,260 (GRCm39) |
P341L |
probably damaging |
Het |
Fzd10 |
G |
A |
5: 128,678,771 (GRCm39) |
G164S |
probably benign |
Het |
Hrh3 |
C |
A |
2: 179,742,444 (GRCm39) |
E395* |
probably null |
Het |
Hsf4 |
G |
A |
8: 105,999,435 (GRCm39) |
V318M |
probably damaging |
Het |
Il21 |
T |
C |
3: 37,281,949 (GRCm39) |
E65G |
possibly damaging |
Het |
Kank1 |
A |
G |
19: 25,408,289 (GRCm39) |
D1256G |
possibly damaging |
Het |
Klhl22 |
A |
G |
16: 17,594,915 (GRCm39) |
N348S |
possibly damaging |
Het |
Krr1 |
T |
C |
10: 111,812,672 (GRCm39) |
I94T |
probably damaging |
Het |
Lpin2 |
A |
G |
17: 71,550,410 (GRCm39) |
D724G |
probably damaging |
Het |
Mn1 |
C |
A |
5: 111,566,393 (GRCm39) |
P121Q |
probably damaging |
Het |
Mphosph9 |
A |
T |
5: 124,463,015 (GRCm39) |
L10* |
probably null |
Het |
Mtus1 |
A |
T |
8: 41,536,795 (GRCm39) |
V307E |
probably benign |
Het |
Muc20 |
A |
G |
16: 32,615,155 (GRCm39) |
L74P |
probably damaging |
Het |
Nnat |
A |
G |
2: 157,403,701 (GRCm39) |
*113W |
probably null |
Het |
Or13a25 |
G |
T |
7: 140,247,794 (GRCm39) |
C191F |
probably damaging |
Het |
Or2f1b |
C |
T |
6: 42,739,672 (GRCm39) |
Q229* |
probably null |
Het |
Or4f14 |
A |
G |
2: 111,743,128 (GRCm39) |
V49A |
possibly damaging |
Het |
Or6b6 |
A |
T |
7: 106,571,103 (GRCm39) |
Y149* |
probably null |
Het |
Pkm |
T |
A |
9: 59,577,831 (GRCm39) |
V216E |
probably damaging |
Het |
Pla2g12a |
G |
A |
3: 129,674,900 (GRCm39) |
V19I |
unknown |
Het |
Pramel27 |
T |
C |
4: 143,578,267 (GRCm39) |
S176P |
|
Het |
Rai14 |
G |
A |
15: 10,595,116 (GRCm39) |
Q136* |
probably null |
Het |
Rnf150 |
T |
A |
8: 83,717,208 (GRCm39) |
N238K |
possibly damaging |
Het |
Rrp1 |
A |
G |
10: 78,240,757 (GRCm39) |
|
probably null |
Het |
Scaf8 |
T |
A |
17: 3,246,070 (GRCm39) |
L720M |
possibly damaging |
Het |
Slamf1 |
G |
T |
1: 171,625,771 (GRCm39) |
V316L |
probably damaging |
Het |
Slc25a20 |
T |
C |
9: 108,549,675 (GRCm39) |
F86L |
probably benign |
Het |
Slc4a5 |
T |
G |
6: 83,217,714 (GRCm39) |
S131A |
probably benign |
Het |
Slitrk3 |
A |
G |
3: 72,958,649 (GRCm39) |
I41T |
probably benign |
Het |
Sntg1 |
A |
T |
1: 8,748,198 (GRCm39) |
L94Q |
probably damaging |
Het |
St18 |
T |
C |
1: 6,915,811 (GRCm39) |
C819R |
probably damaging |
Het |
St6galnac3 |
T |
A |
3: 153,117,177 (GRCm39) |
D182V |
probably benign |
Het |
Tubgcp2 |
T |
A |
7: 139,584,789 (GRCm39) |
T549S |
probably benign |
Het |
Vim |
A |
T |
2: 13,579,148 (GRCm39) |
|
probably benign |
Het |
Vmn2r118 |
C |
A |
17: 55,899,837 (GRCm39) |
R689I |
probably damaging |
Het |
Zbtb41 |
A |
T |
1: 139,375,255 (GRCm39) |
E905V |
probably damaging |
Het |
Zfyve9 |
A |
T |
4: 108,499,288 (GRCm39) |
D1284E |
possibly damaging |
Het |
|
Other mutations in Slc14a1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00538:Slc14a1
|
APN |
18 |
78,147,288 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCTCTGCTCACACAGTTAGC -3'
(R):5'- GGGATGTTTCTCCTGATCCCAC -3'
Sequencing Primer
(F):5'- CTGCTCACACAGTTAGCTAGTGG -3'
(R):5'- AGAACAGCCTGCTCATTGTC -3'
|
Posted On |
2022-09-12 |