Incidental Mutation 'R9730:Slc14a1'
ID |
736032 |
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 # |
R9730 (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: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.6%
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars2 |
G |
A |
17: 45,829,534 (GRCm39) |
R807Q |
probably benign |
Het |
Alms1 |
G |
A |
6: 85,606,420 (GRCm39) |
R2221Q |
probably benign |
Het |
Alox12 |
C |
T |
11: 70,140,920 (GRCm39) |
A372T |
probably benign |
Het |
Ank2 |
T |
C |
3: 127,019,493 (GRCm39) |
M2V |
|
Het |
Cdon |
A |
G |
9: 35,398,263 (GRCm39) |
I993M |
probably benign |
Het |
Chil5 |
T |
C |
3: 105,926,470 (GRCm39) |
T120A |
possibly damaging |
Het |
Clca4b |
T |
C |
3: 144,632,979 (GRCm39) |
H157R |
probably damaging |
Het |
Clip2 |
C |
T |
5: 134,533,616 (GRCm39) |
R487Q |
probably benign |
Het |
Cyp39a1 |
A |
G |
17: 43,991,029 (GRCm39) |
N113D |
probably benign |
Het |
Dact3 |
A |
G |
7: 16,609,540 (GRCm39) |
E64G |
possibly damaging |
Het |
Dennd3 |
A |
G |
15: 73,426,959 (GRCm39) |
K779E |
probably damaging |
Het |
Etnppl |
C |
T |
3: 130,415,958 (GRCm39) |
A115V |
probably damaging |
Het |
Exoc6 |
C |
T |
19: 37,588,032 (GRCm39) |
T555I |
probably benign |
Het |
Fbxw11 |
A |
G |
11: 32,688,395 (GRCm39) |
T419A |
probably damaging |
Het |
Hcn4 |
G |
T |
9: 58,731,493 (GRCm39) |
M233I |
unknown |
Het |
Hgfac |
T |
C |
5: 35,204,282 (GRCm39) |
V515A |
probably damaging |
Het |
Hikeshi |
T |
C |
7: 89,569,371 (GRCm39) |
Y150C |
probably benign |
Het |
Igf1r |
A |
G |
7: 67,839,423 (GRCm39) |
Y645C |
probably damaging |
Het |
Iqgap1 |
A |
G |
7: 80,401,124 (GRCm39) |
I521T |
possibly damaging |
Het |
Ldhal6b |
A |
G |
17: 5,468,094 (GRCm39) |
V280A |
possibly damaging |
Het |
Map1s |
C |
T |
8: 71,369,178 (GRCm39) |
A909V |
possibly damaging |
Het |
Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
Or5b106 |
T |
A |
19: 13,123,747 (GRCm39) |
Y92F |
possibly damaging |
Het |
Plaa |
G |
A |
4: 94,466,660 (GRCm39) |
P484S |
probably benign |
Het |
Ppp1r3a |
G |
T |
6: 14,721,923 (GRCm39) |
A301D |
probably benign |
Het |
Prdm2 |
A |
G |
4: 142,858,659 (GRCm39) |
S1544P |
possibly damaging |
Het |
Scara3 |
A |
G |
14: 66,168,261 (GRCm39) |
V452A |
probably damaging |
Het |
Slc12a9 |
T |
A |
5: 137,325,732 (GRCm39) |
D293V |
probably benign |
Het |
Smg1 |
T |
C |
7: 117,783,004 (GRCm39) |
N1101S |
unknown |
Het |
Spocd1 |
A |
G |
4: 129,850,305 (GRCm39) |
|
probably benign |
Het |
Synj1 |
A |
T |
16: 90,757,552 (GRCm39) |
D865E |
probably damaging |
Het |
Trim21 |
T |
C |
7: 102,213,247 (GRCm39) |
D17G |
probably benign |
Het |
Try4 |
A |
T |
6: 41,281,996 (GRCm39) |
D194V |
probably damaging |
Het |
Zfp30 |
A |
G |
7: 29,492,139 (GRCm39) |
E212G |
probably damaging |
Het |
Zfp445 |
A |
C |
9: 122,681,490 (GRCm39) |
I817R |
probably damaging |
Het |
Zfp534 |
A |
T |
4: 147,759,378 (GRCm39) |
H430Q |
probably 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 |
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 |
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'- GGAACATCACTTGCTCTGCTC -3'
(R):5'- CTGATCCCACAACTCATGGC -3'
Sequencing Primer
(F):5'- CTGCTCACACAGTTAGCTAGTGG -3'
(R):5'- AGAACAGCCTGCTCATTGTC -3'
|
Posted On |
2022-11-14 |