Incidental Mutation 'R4066:Slc14a1'
ID |
316135 |
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 |
040973-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4066 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
78143306-78185334 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 78154592 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 209
(W209R)
|
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: W209R
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000089421 Gene: ENSMUSG00000059336 AA Change: W209R
Domain | Start | End | E-Value | Type |
Pfam:UT
|
52 |
356 |
1.6e-120 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000160292
AA Change: W265R
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000125114 Gene: ENSMUSG00000059336 AA Change: W265R
Domain | Start | End | E-Value | Type |
Pfam:UT
|
110 |
405 |
6.3e-112 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000160639
AA Change: W209R
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000125367 Gene: ENSMUSG00000059336 AA Change: W209R
Domain | Start | End | E-Value | Type |
Pfam:UT
|
52 |
356 |
1.6e-120 |
PFAM |
|
Meta Mutation Damage Score |
0.9176 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
96% (50/52) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam23 |
A |
T |
1: 63,602,584 (GRCm39) |
H582L |
probably damaging |
Het |
Ankrd13d |
C |
T |
19: 4,320,388 (GRCm39) |
A118T |
probably benign |
Het |
Arhgap30 |
C |
T |
1: 171,235,891 (GRCm39) |
T755I |
probably benign |
Het |
Cab39l |
A |
G |
14: 59,784,454 (GRCm39) |
H285R |
probably benign |
Het |
Dpyd |
AAT |
AATGTATATATAT |
3: 118,690,738 (GRCm39) |
|
probably benign |
Het |
Dspp |
T |
A |
5: 104,325,060 (GRCm39) |
N474K |
unknown |
Het |
Fanci |
T |
C |
7: 79,062,505 (GRCm39) |
|
probably null |
Het |
Fras1 |
T |
A |
5: 96,918,542 (GRCm39) |
I3526K |
possibly damaging |
Het |
Fut8 |
T |
A |
12: 77,510,835 (GRCm39) |
Y421N |
probably damaging |
Het |
Gm12258 |
C |
T |
11: 58,749,352 (GRCm39) |
L176F |
probably benign |
Het |
Gm8220 |
A |
T |
14: 44,523,095 (GRCm39) |
R12* |
probably null |
Het |
Hecw1 |
T |
C |
13: 14,491,016 (GRCm39) |
S659G |
probably damaging |
Het |
Hnrnpr |
C |
A |
4: 136,066,657 (GRCm39) |
|
probably benign |
Het |
Htt |
C |
T |
5: 35,036,191 (GRCm39) |
T2046I |
probably benign |
Het |
Kat7 |
T |
C |
11: 95,174,967 (GRCm39) |
D259G |
possibly damaging |
Het |
Klra9 |
T |
C |
6: 130,165,707 (GRCm39) |
T103A |
probably benign |
Het |
Lad1 |
A |
G |
1: 135,755,165 (GRCm39) |
E147G |
probably damaging |
Het |
Lipo2 |
T |
C |
19: 33,698,259 (GRCm39) |
I373V |
probably benign |
Het |
Ltb4r1 |
G |
T |
14: 56,004,952 (GRCm39) |
W85L |
probably damaging |
Het |
Ltn1 |
T |
C |
16: 87,213,118 (GRCm39) |
Y481C |
possibly damaging |
Het |
Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
Muc4 |
A |
T |
16: 32,569,869 (GRCm39) |
I310F |
possibly damaging |
Het |
Myl10 |
A |
G |
5: 136,724,304 (GRCm39) |
K70E |
probably damaging |
Het |
Nptx2 |
G |
T |
5: 144,493,122 (GRCm39) |
W403L |
probably damaging |
Het |
Nyap2 |
A |
G |
1: 81,219,550 (GRCm39) |
Y524C |
probably damaging |
Het |
Or4a72 |
T |
A |
2: 89,405,523 (GRCm39) |
L182F |
probably damaging |
Het |
Or6b2b |
A |
G |
1: 92,418,911 (GRCm39) |
C189R |
probably damaging |
Het |
Or8b1 |
T |
A |
9: 38,399,778 (GRCm39) |
M151K |
probably benign |
Het |
Pde9a |
A |
G |
17: 31,662,812 (GRCm39) |
*64W |
probably null |
Het |
Ppp2r5b |
T |
C |
19: 6,279,360 (GRCm39) |
Y379C |
probably damaging |
Het |
Rd3l |
T |
G |
12: 111,945,945 (GRCm39) |
N178T |
probably benign |
Het |
Recql4 |
A |
G |
15: 76,590,027 (GRCm39) |
Y673H |
probably damaging |
Het |
Rnps1-ps |
T |
A |
6: 7,983,009 (GRCm39) |
|
noncoding transcript |
Het |
Shcbp1 |
A |
G |
8: 4,798,716 (GRCm39) |
I401T |
probably damaging |
Het |
Shd |
A |
T |
17: 56,278,581 (GRCm39) |
D48V |
probably damaging |
Het |
Slc2a9 |
T |
C |
5: 38,640,692 (GRCm39) |
K6E |
probably benign |
Het |
Slco6d1 |
A |
G |
1: 98,391,571 (GRCm39) |
|
probably benign |
Het |
Spic |
T |
C |
10: 88,511,545 (GRCm39) |
H237R |
possibly damaging |
Het |
Stau2 |
A |
G |
1: 16,464,283 (GRCm39) |
S156P |
possibly damaging |
Het |
Stmn2 |
T |
C |
3: 8,574,668 (GRCm39) |
|
probably benign |
Het |
Togaram2 |
C |
A |
17: 72,023,233 (GRCm39) |
|
probably benign |
Het |
Trpc5 |
T |
A |
X: 143,202,594 (GRCm39) |
R545* |
probably null |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Wdfy3 |
C |
T |
5: 102,070,313 (GRCm39) |
V1152I |
probably benign |
Het |
Xpo4 |
G |
T |
14: 57,825,511 (GRCm39) |
H939N |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACCTTGAGAACTCTGAGTTACTG -3'
(R):5'- TTAGCCCGGTTTTCTCGAGC -3'
Sequencing Primer
(F):5'- TGTATTCTGGACTGAGCCAGAAC -3'
(R):5'- TTCTCGAGCGCGTTGAGC -3'
|
Posted On |
2015-05-15 |