Incidental Mutation 'R9604:Slc14a1'
ID |
723850 |
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 # |
R9604 (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: 99.7%
- 20x: 99.0%
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrg7 |
A |
G |
16: 56,597,570 (GRCm39) |
F79S |
probably damaging |
Het |
Ankrd60 |
A |
T |
2: 173,412,987 (GRCm39) |
I167N |
probably benign |
Het |
Atp13a3 |
G |
T |
16: 30,168,506 (GRCm39) |
D494E |
probably damaging |
Het |
Cep83 |
A |
C |
10: 94,554,939 (GRCm39) |
H35P |
possibly damaging |
Het |
Cpne3 |
A |
G |
4: 19,555,477 (GRCm39) |
V6A |
probably benign |
Het |
Dnm3 |
G |
A |
1: 161,838,584 (GRCm39) |
A259V |
possibly damaging |
Het |
Eftud2 |
T |
C |
11: 102,737,056 (GRCm39) |
I575V |
probably benign |
Het |
Eif4g1 |
A |
G |
16: 20,500,255 (GRCm39) |
N676S |
possibly damaging |
Het |
Foxp1 |
TTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG |
6: 99,052,926 (GRCm39) |
|
probably benign |
Het |
Gal3st4 |
T |
A |
5: 138,264,011 (GRCm39) |
K329N |
probably benign |
Het |
Gm15446 |
T |
C |
5: 110,088,314 (GRCm39) |
V9A |
probably damaging |
Het |
Golim4 |
A |
T |
3: 75,815,435 (GRCm39) |
|
probably null |
Het |
Harbi1 |
T |
C |
2: 91,542,689 (GRCm39) |
V50A |
probably damaging |
Het |
Hcn2 |
T |
C |
10: 79,564,787 (GRCm39) |
C400R |
probably damaging |
Het |
Heatr6 |
T |
C |
11: 83,668,188 (GRCm39) |
M894T |
probably damaging |
Het |
Hid1 |
A |
T |
11: 115,243,466 (GRCm39) |
H527Q |
|
Het |
Ifitm1 |
C |
T |
7: 140,548,227 (GRCm39) |
A20V |
probably benign |
Het |
Klk1b11 |
T |
A |
7: 43,427,850 (GRCm39) |
L213Q |
|
Het |
Lepr |
A |
G |
4: 101,590,473 (GRCm39) |
Y17C |
probably benign |
Het |
N4bp3 |
A |
T |
11: 51,536,493 (GRCm39) |
V113E |
probably damaging |
Het |
Neb |
C |
T |
2: 52,182,680 (GRCm39) |
R1062K |
probably benign |
Het |
Nlrp4b |
T |
A |
7: 10,444,295 (GRCm39) |
N81K |
probably benign |
Het |
Nol6 |
A |
G |
4: 41,120,298 (GRCm39) |
I473T |
probably benign |
Het |
Nsd1 |
T |
A |
13: 55,381,807 (GRCm39) |
S344T |
probably benign |
Het |
Pals2 |
C |
A |
6: 50,173,597 (GRCm39) |
A487E |
probably benign |
Het |
Pde12 |
A |
G |
14: 26,390,008 (GRCm39) |
Y234H |
possibly damaging |
Het |
Pla2g4e |
C |
T |
2: 120,015,680 (GRCm39) |
C288Y |
probably benign |
Het |
Plekhd1 |
A |
G |
12: 80,739,731 (GRCm39) |
T27A |
probably damaging |
Het |
Pls1 |
T |
A |
9: 95,644,057 (GRCm39) |
I480F |
probably damaging |
Het |
Prom1 |
A |
G |
5: 44,187,075 (GRCm39) |
I394T |
probably damaging |
Het |
Ros1 |
A |
T |
10: 51,994,249 (GRCm39) |
C1365S |
probably damaging |
Het |
Rpgrip1l |
G |
A |
8: 92,031,433 (GRCm39) |
T148M |
possibly damaging |
Het |
Tap1 |
A |
C |
17: 34,412,172 (GRCm39) |
D459A |
probably damaging |
Het |
Tas2r125 |
T |
C |
6: 132,887,023 (GRCm39) |
I137T |
probably benign |
Het |
Tent5a |
C |
A |
9: 85,206,677 (GRCm39) |
V374L |
probably benign |
Het |
Ubr4 |
T |
C |
4: 139,159,827 (GRCm39) |
|
probably null |
Het |
Vmn1r172 |
T |
C |
7: 23,359,193 (GRCm39) |
I26T |
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 |
R9603: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'- GCTCACACAGTTAGCTAGTGG -3'
(R):5'- AGCAACGGGATGTTTCTCCTG -3'
Sequencing Primer
(F):5'- GCTCACACAGTTAGCTAGTGGTAAAC -3'
(R):5'- AGAACAGCCTGCTCATTGTC -3'
|
Posted On |
2022-09-12 |