Incidental Mutation 'R2167:Slc12a1'
| ID |
235524 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc12a1
|
| Ensembl Gene |
ENSMUSG00000027202 |
| Gene Name |
solute carrier family 12, member 1 |
| Synonyms |
D630042G03Rik, mBSC1, Nkcc2, urehr3 |
| MMRRC Submission |
040170-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.249)
|
| Stock # |
R2167 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
124994430-125071922 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 125015601 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 385
(I385V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106120
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028630]
[ENSMUST00000110494]
[ENSMUST00000110495]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028630
AA Change: I385V
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000028630
Gene: ENSMUSG00000027202
AA Change: I385V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
Pfam:AA_permease_N
|
82 |
152 |
5.3e-22 |
PFAM |
|
Pfam:AA_permease
|
173 |
677 |
2.3e-152 |
PFAM |
|
Pfam:AA_permease_2
|
177 |
636 |
2.6e-24 |
PFAM |
|
coiled coil region
|
815 |
843 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110494
AA Change: I385V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106120
Gene: ENSMUSG00000027202
AA Change: I385V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
Pfam:AA_permease_N
|
83 |
148 |
3.3e-26 |
PFAM |
|
Pfam:AA_permease
|
173 |
677 |
2.2e-151 |
PFAM |
|
Pfam:SLC12
|
685 |
1090 |
1.5e-153 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110495
AA Change: I385V
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000106121
Gene: ENSMUSG00000027202
AA Change: I385V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
Pfam:AA_permease_N
|
83 |
148 |
3.3e-26 |
PFAM |
|
Pfam:AA_permease
|
173 |
677 |
1.6e-151 |
PFAM |
|
Pfam:SLC12
|
685 |
1090 |
1.5e-153 |
PFAM |
|
| Meta Mutation Damage Score |
0.3884 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
98% (57/58) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a kidney-specific sodium-potassium-chloride cotransporter that is expressed on the luminal membrane of renal epithelial cells of the thick ascending limb of Henle's loop and the macula densa. It plays a key role in concentrating urine and accounts for most of the NaCl resorption. It is sensitive to such diuretics as furosemide and bumetanide. Some Bartter-like syndromes result from defects in this gene. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their biological validity in humans has not been experimentally proven.[provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene do not survive to weaning and suffer from various metabolic abnormalities related to kidney function. Mice homozygous for an ENU-induced allele exhibit kidney disease, impaired urinary excretion of metabolism products, polyuria, and kidney alterations. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
C |
T |
11: 9,238,532 (GRCm39) |
T710M |
probably benign |
Het |
| Acan |
A |
G |
7: 78,749,705 (GRCm39) |
E1492G |
probably benign |
Het |
| Acsl1 |
A |
G |
8: 46,986,627 (GRCm39) |
D638G |
possibly damaging |
Het |
| Acsl6 |
C |
A |
11: 54,217,983 (GRCm39) |
T207K |
probably benign |
Het |
| Ahnak |
A |
T |
19: 8,988,858 (GRCm39) |
K3381* |
probably null |
Het |
| Art1 |
T |
C |
7: 101,756,031 (GRCm39) |
V74A |
probably damaging |
Het |
| Bhmt2 |
A |
T |
13: 93,799,012 (GRCm39) |
W270R |
probably benign |
Het |
| Calm2 |
T |
C |
17: 87,742,573 (GRCm39) |
T118A |
probably benign |
Het |
| Ccdc88b |
G |
T |
19: 6,831,452 (GRCm39) |
Q497K |
possibly damaging |
Het |
| Ccne2 |
A |
T |
4: 11,197,249 (GRCm39) |
M183L |
probably benign |
Het |
| Cdc42bpg |
A |
G |
19: 6,367,707 (GRCm39) |
I1026V |
probably damaging |
Het |
| Celsr2 |
T |
C |
3: 108,320,509 (GRCm39) |
T768A |
probably damaging |
Het |
| Cog5 |
T |
C |
12: 31,887,288 (GRCm39) |
F470L |
probably damaging |
Het |
| Cpne5 |
T |
C |
17: 29,381,306 (GRCm39) |
D374G |
probably damaging |
Het |
| Disp2 |
A |
C |
2: 118,622,166 (GRCm39) |
E966A |
probably damaging |
Het |
| Dmrtc2 |
C |
T |
7: 24,573,344 (GRCm39) |
|
probably benign |
Het |
| Eif2b3 |
T |
A |
4: 116,885,737 (GRCm39) |
I93N |
probably damaging |
Het |
| Elfn2 |
C |
A |
15: 78,556,646 (GRCm39) |
V634L |
probably benign |
Het |
| Fasl |
T |
G |
1: 161,614,707 (GRCm39) |
S119R |
probably benign |
Het |
| Foxp2 |
C |
G |
6: 15,437,901 (GRCm39) |
P701A |
probably damaging |
Het |
| Helz |
T |
A |
11: 107,563,790 (GRCm39) |
|
probably benign |
Het |
| Kctd6 |
T |
C |
14: 8,222,683 (GRCm38) |
V175A |
probably benign |
Het |
| Leo1 |
A |
G |
9: 75,352,991 (GRCm39) |
N178S |
probably benign |
Het |
| Lhx6 |
C |
A |
2: 35,993,371 (GRCm39) |
R80L |
probably damaging |
Het |
| Man1a2 |
A |
G |
3: 100,499,216 (GRCm39) |
L406P |
probably damaging |
Het |
| Mapkap1 |
T |
C |
2: 34,487,494 (GRCm39) |
F231L |
probably damaging |
Het |
| Mknk2 |
A |
G |
10: 80,504,535 (GRCm39) |
Y256H |
probably damaging |
Het |
| Msh6 |
A |
G |
17: 88,296,911 (GRCm39) |
T1203A |
probably damaging |
Het |
| Nbeal2 |
T |
C |
9: 110,467,376 (GRCm39) |
Y604C |
probably damaging |
Het |
| Ncam1 |
G |
T |
9: 49,479,781 (GRCm39) |
Q66K |
probably benign |
Het |
| Nsd2 |
T |
A |
5: 34,040,263 (GRCm39) |
H933Q |
probably damaging |
Het |
| Or10h5 |
T |
A |
17: 33,434,542 (GRCm39) |
I262F |
probably damaging |
Het |
| Or13p3 |
T |
C |
4: 118,567,252 (GRCm39) |
V216A |
probably benign |
Het |
| Or2d3c |
A |
G |
7: 106,525,797 (GRCm39) |
Y290H |
probably damaging |
Het |
| Or5h23 |
T |
A |
16: 58,905,949 (GRCm39) |
K299I |
probably benign |
Het |
| Pappa |
A |
C |
4: 65,074,682 (GRCm39) |
D412A |
probably damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Rassf6 |
C |
T |
5: 90,751,797 (GRCm39) |
E308K |
probably damaging |
Het |
| Rb1 |
T |
C |
14: 73,449,091 (GRCm39) |
T680A |
probably damaging |
Het |
| Rfpl4 |
T |
A |
7: 5,113,852 (GRCm39) |
I104F |
probably damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Rnase6 |
A |
C |
14: 51,367,974 (GRCm39) |
D122A |
probably benign |
Het |
| Rsf1 |
GGCG |
GGCGACGGCAGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Sec31b |
G |
A |
19: 44,531,792 (GRCm39) |
T39I |
possibly damaging |
Het |
| Slc6a17 |
A |
T |
3: 107,398,817 (GRCm39) |
Y261* |
probably null |
Het |
| Supt6 |
G |
A |
11: 78,098,993 (GRCm39) |
P1626L |
possibly damaging |
Het |
| Tbx15 |
A |
G |
3: 99,233,771 (GRCm39) |
|
probably benign |
Het |
| Telo2 |
A |
G |
17: 25,329,792 (GRCm39) |
V240A |
probably benign |
Het |
| Trhr |
C |
T |
15: 44,092,638 (GRCm39) |
L292F |
probably damaging |
Het |
| Trps1 |
G |
A |
15: 50,695,126 (GRCm39) |
L340F |
possibly damaging |
Het |
| Ube2e1 |
T |
C |
14: 18,284,429 (GRCm38) |
|
probably benign |
Het |
| Yeats2 |
T |
C |
16: 20,032,151 (GRCm39) |
|
probably benign |
Het |
| Zbtb39 |
G |
A |
10: 127,578,844 (GRCm39) |
E473K |
probably benign |
Het |
| Zfp235 |
T |
A |
7: 23,840,387 (GRCm39) |
S269T |
possibly damaging |
Het |
| Zfp580 |
C |
A |
7: 5,056,063 (GRCm39) |
P141Q |
possibly damaging |
Het |
|
| Other mutations in Slc12a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00798:Slc12a1
|
APN |
2 |
125,030,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00845:Slc12a1
|
APN |
2 |
125,030,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01348:Slc12a1
|
APN |
2 |
125,036,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01534:Slc12a1
|
APN |
2 |
125,059,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01677:Slc12a1
|
APN |
2 |
125,020,069 (GRCm39) |
splice site |
probably benign |
|
|
IGL02150:Slc12a1
|
APN |
2 |
125,026,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02220:Slc12a1
|
APN |
2 |
125,030,190 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02568:Slc12a1
|
APN |
2 |
125,026,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02602:Slc12a1
|
APN |
2 |
124,996,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02625:Slc12a1
|
APN |
2 |
125,012,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02635:Slc12a1
|
APN |
2 |
125,067,898 (GRCm39) |
missense |
probably benign |
|
|
IGL02672:Slc12a1
|
APN |
2 |
125,012,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02718:Slc12a1
|
APN |
2 |
125,002,999 (GRCm39) |
nonsense |
probably null |
|
|
IGL03191:Slc12a1
|
APN |
2 |
125,048,009 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
FR4449:Slc12a1
|
UTSW |
2 |
124,996,136 (GRCm39) |
small insertion |
probably benign |
|
|
FR4548:Slc12a1
|
UTSW |
2 |
124,996,134 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Slc12a1
|
UTSW |
2 |
124,996,134 (GRCm39) |
small insertion |
probably benign |
|
|
PIT4431001:Slc12a1
|
UTSW |
2 |
125,032,124 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0033:Slc12a1
|
UTSW |
2 |
125,055,929 (GRCm39) |
missense |
probably benign |
|
|
R0127:Slc12a1
|
UTSW |
2 |
125,061,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0312:Slc12a1
|
UTSW |
2 |
125,067,948 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0373:Slc12a1
|
UTSW |
2 |
125,067,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0692:Slc12a1
|
UTSW |
2 |
125,036,082 (GRCm39) |
nonsense |
probably null |
|
|
R1194:Slc12a1
|
UTSW |
2 |
125,026,687 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1264:Slc12a1
|
UTSW |
2 |
125,060,158 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1529:Slc12a1
|
UTSW |
2 |
125,032,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1543:Slc12a1
|
UTSW |
2 |
125,026,777 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1940:Slc12a1
|
UTSW |
2 |
125,036,113 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2109:Slc12a1
|
UTSW |
2 |
125,015,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3409:Slc12a1
|
UTSW |
2 |
124,996,071 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3902:Slc12a1
|
UTSW |
2 |
125,030,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4079:Slc12a1
|
UTSW |
2 |
125,042,543 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4502:Slc12a1
|
UTSW |
2 |
125,067,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4557:Slc12a1
|
UTSW |
2 |
125,028,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4719:Slc12a1
|
UTSW |
2 |
124,995,913 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4782:Slc12a1
|
UTSW |
2 |
125,002,999 (GRCm39) |
nonsense |
probably null |
|
|
R4845:Slc12a1
|
UTSW |
2 |
125,030,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4913:Slc12a1
|
UTSW |
2 |
125,070,670 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5024:Slc12a1
|
UTSW |
2 |
125,008,057 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5112:Slc12a1
|
UTSW |
2 |
125,060,144 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5334:Slc12a1
|
UTSW |
2 |
125,059,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5470:Slc12a1
|
UTSW |
2 |
125,012,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6057:Slc12a1
|
UTSW |
2 |
125,032,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6604:Slc12a1
|
UTSW |
2 |
125,026,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6941:Slc12a1
|
UTSW |
2 |
125,055,999 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6944:Slc12a1
|
UTSW |
2 |
125,002,454 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7049:Slc12a1
|
UTSW |
2 |
125,013,177 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7204:Slc12a1
|
UTSW |
2 |
125,042,542 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7427:Slc12a1
|
UTSW |
2 |
125,056,052 (GRCm39) |
missense |
probably benign |
|
|
R7428:Slc12a1
|
UTSW |
2 |
125,056,052 (GRCm39) |
missense |
probably benign |
|
|
R7432:Slc12a1
|
UTSW |
2 |
125,047,960 (GRCm39) |
missense |
probably benign |
0.36 |
|
R7470:Slc12a1
|
UTSW |
2 |
125,059,815 (GRCm39) |
nonsense |
probably null |
|
|
R7828:Slc12a1
|
UTSW |
2 |
125,008,602 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7862:Slc12a1
|
UTSW |
2 |
125,003,014 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7923:Slc12a1
|
UTSW |
2 |
125,056,012 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8020:Slc12a1
|
UTSW |
2 |
125,020,022 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8071:Slc12a1
|
UTSW |
2 |
125,028,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8272:Slc12a1
|
UTSW |
2 |
125,070,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8302:Slc12a1
|
UTSW |
2 |
125,032,209 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8722:Slc12a1
|
UTSW |
2 |
125,002,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9029:Slc12a1
|
UTSW |
2 |
124,996,004 (GRCm39) |
missense |
probably benign |
|
|
R9153:Slc12a1
|
UTSW |
2 |
125,002,989 (GRCm39) |
splice site |
probably benign |
|
|
R9449:Slc12a1
|
UTSW |
2 |
125,028,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9568:Slc12a1
|
UTSW |
2 |
125,032,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9614:Slc12a1
|
UTSW |
2 |
125,002,445 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9723:Slc12a1
|
UTSW |
2 |
125,059,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF032:Slc12a1
|
UTSW |
2 |
124,996,130 (GRCm39) |
small insertion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTGACTCTGCTGCAATTCTAAGG -3'
(R):5'- GCACTATATTGTTGGGAGGCC -3'
Sequencing Primer
(F):5'- GACTCTGCTGCAATTCTAAGGATCTG -3'
(R):5'- AGAGCTTGTAAGTAACTAGGACATC -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation