Incidental Mutation 'R8010:Slc14a1'
ID |
616884 |
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 |
046050-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8010 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
78143306-78185334 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 78159704 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 63
(M63K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125114
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091813]
[ENSMUST00000160292]
[ENSMUST00000160639]
|
AlphaFold |
Q8VHL0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000091813
AA Change: M7K
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000089421 Gene: ENSMUSG00000059336 AA Change: M7K
Domain | Start | End | E-Value | Type |
Pfam:UT
|
52 |
356 |
1.6e-120 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160292
AA Change: M63K
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000125114 Gene: ENSMUSG00000059336 AA Change: M63K
Domain | Start | End | E-Value | Type |
Pfam:UT
|
110 |
405 |
6.3e-112 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160639
AA Change: M7K
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000125367 Gene: ENSMUSG00000059336 AA Change: M7K
Domain | Start | End | E-Value | Type |
Pfam:UT
|
52 |
356 |
1.6e-120 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
T |
A |
6: 128,557,303 (GRCm39) |
H130L |
probably benign |
Het |
Abca1 |
A |
G |
4: 53,127,600 (GRCm39) |
S140P |
probably benign |
Het |
Aoc1 |
T |
C |
6: 48,882,582 (GRCm39) |
Y153H |
probably benign |
Het |
Arhgdib |
A |
G |
6: 136,903,720 (GRCm39) |
I118T |
probably damaging |
Het |
Atp1a3 |
T |
A |
7: 24,680,070 (GRCm39) |
E865V |
possibly damaging |
Het |
Atrnl1 |
T |
C |
19: 57,670,878 (GRCm39) |
V587A |
probably benign |
Het |
Ccdc107 |
G |
T |
4: 43,495,768 (GRCm39) |
E199* |
probably null |
Het |
Cd55 |
A |
T |
1: 130,387,353 (GRCm39) |
D148E |
probably benign |
Het |
Cdc42ep1 |
C |
T |
15: 78,731,999 (GRCm39) |
T148I |
possibly damaging |
Het |
Cep164 |
A |
T |
9: 45,734,969 (GRCm39) |
D19E |
unknown |
Het |
Chsy3 |
A |
G |
18: 59,543,226 (GRCm39) |
Y788C |
probably damaging |
Het |
Cttnbp2 |
G |
C |
6: 18,426,092 (GRCm39) |
A762G |
possibly damaging |
Het |
Cubn |
A |
G |
2: 13,340,897 (GRCm39) |
|
probably null |
Het |
Ddr1 |
T |
A |
17: 36,002,384 (GRCm39) |
M175L |
possibly damaging |
Het |
Dicer1 |
C |
A |
12: 104,658,391 (GRCm39) |
K1850N |
probably damaging |
Het |
Dnajc6 |
C |
T |
4: 101,475,611 (GRCm39) |
R495C |
probably benign |
Het |
Ecpas |
T |
A |
4: 58,832,681 (GRCm39) |
Q893L |
unknown |
Het |
Fbh1 |
A |
T |
2: 11,772,443 (GRCm39) |
N79K |
probably benign |
Het |
Frmpd1 |
T |
A |
4: 45,284,272 (GRCm39) |
V1031D |
possibly damaging |
Het |
Gm7298 |
A |
G |
6: 121,712,542 (GRCm39) |
E118G |
probably benign |
Het |
Hnrnpll |
T |
C |
17: 80,369,385 (GRCm39) |
T13A |
unknown |
Het |
Jcad |
A |
G |
18: 4,674,581 (GRCm39) |
D781G |
probably benign |
Het |
Kitl |
A |
T |
10: 99,887,765 (GRCm39) |
T25S |
probably benign |
Het |
Krt5 |
T |
C |
15: 101,620,791 (GRCm39) |
D152G |
probably damaging |
Het |
Krtap5-5 |
T |
C |
7: 141,783,648 (GRCm39) |
M1V |
probably null |
Het |
Ktn1 |
C |
T |
14: 47,943,230 (GRCm39) |
T862I |
possibly damaging |
Het |
Mapk4 |
A |
T |
18: 74,063,647 (GRCm39) |
I525N |
probably benign |
Het |
Megf6 |
T |
C |
4: 154,354,964 (GRCm39) |
F1457S |
probably benign |
Het |
Mrm3 |
A |
T |
11: 76,141,173 (GRCm39) |
S394C |
probably damaging |
Het |
Mtmr4 |
T |
G |
11: 87,489,690 (GRCm39) |
V71G |
probably damaging |
Het |
Nek8 |
T |
C |
11: 78,067,422 (GRCm39) |
Y4C |
probably damaging |
Het |
Or13g1 |
T |
A |
7: 85,956,260 (GRCm39) |
E20D |
probably benign |
Het |
Or5ac21 |
T |
C |
16: 59,123,867 (GRCm39) |
M117T |
probably damaging |
Het |
Or7g30 |
A |
T |
9: 19,352,988 (GRCm39) |
I260L |
probably benign |
Het |
Pla2r1 |
T |
C |
2: 60,345,304 (GRCm39) |
T351A |
probably benign |
Het |
Plcb4 |
C |
T |
2: 135,749,480 (GRCm39) |
T49M |
probably benign |
Het |
Psg20 |
T |
C |
7: 18,414,992 (GRCm39) |
D301G |
probably benign |
Het |
Ptpn13 |
C |
T |
5: 103,707,803 (GRCm39) |
Q1455* |
probably null |
Het |
Rbbp8 |
A |
T |
18: 11,855,290 (GRCm39) |
N505I |
possibly damaging |
Het |
Rgs18 |
A |
G |
1: 144,631,738 (GRCm39) |
C125R |
probably benign |
Het |
Rpap2 |
G |
A |
5: 107,751,471 (GRCm39) |
C105Y |
probably damaging |
Het |
Scn10a |
C |
T |
9: 119,490,233 (GRCm39) |
G570R |
possibly damaging |
Het |
Sell |
C |
T |
1: 163,893,081 (GRCm39) |
T99I |
possibly damaging |
Het |
Sp140l2 |
G |
A |
1: 85,224,671 (GRCm39) |
S288L |
possibly damaging |
Het |
Syne2 |
A |
T |
12: 75,977,512 (GRCm39) |
D1319V |
probably benign |
Het |
Tdp2 |
C |
T |
13: 25,020,010 (GRCm39) |
T99I |
probably damaging |
Het |
Tet3 |
A |
T |
6: 83,380,228 (GRCm39) |
S647T |
unknown |
Het |
Tpd52l1 |
T |
G |
10: 31,234,009 (GRCm39) |
D48A |
possibly damaging |
Het |
Ttll10 |
T |
C |
4: 156,131,618 (GRCm39) |
D169G |
probably damaging |
Het |
Wars2 |
C |
A |
3: 99,124,146 (GRCm39) |
L336I |
probably benign |
Het |
Wdfy4 |
C |
A |
14: 32,693,584 (GRCm39) |
W2906L |
|
Het |
Xdh |
A |
T |
17: 74,216,312 (GRCm39) |
Y711* |
probably null |
Het |
Xirp1 |
T |
A |
9: 119,846,890 (GRCm39) |
R664S |
probably benign |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGCACAGGCAAAGGATGTCC -3'
(R):5'- TTCTCAGAGCCATGACACTG -3'
Sequencing Primer
(F):5'- AGGATGTCCTCGGCTGCTTC -3'
(R):5'- GGGCATCTGGGTTACAACTCATAAC -3'
|
Posted On |
2020-01-23 |