Incidental Mutation 'R3751:Slc6a21'
ID |
271210 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc6a21
|
Ensembl Gene |
ENSMUSG00000070568 |
Gene Name |
solute carrier family 6 member 21 |
Synonyms |
1700039E15Rik |
MMRRC Submission |
040736-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
R3751 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
44926937-44938422 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 44929928 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 139
(V139I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147890
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085364]
[ENSMUST00000210861]
|
AlphaFold |
A0A1B0GSD2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000085364
|
SMART Domains |
Protein: ENSMUSP00000082476 Gene: ENSMUSG00000070568
Domain | Start | End | E-Value | Type |
Pfam:SNF
|
1 |
306 |
8.3e-37 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176276
AA Change: V139I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000135707 Gene: ENSMUSG00000070568 AA Change: V139I
Domain | Start | End | E-Value | Type |
Pfam:SNF
|
48 |
631 |
2e-103 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209477
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209886
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210207
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210861
AA Change: V139I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
Validation Efficiency |
93% (43/46) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2900092C05Rik |
G |
T |
7: 12,289,973 (GRCm39) |
R183I |
probably benign |
Het |
BC016579 |
A |
T |
16: 45,453,361 (GRCm39) |
|
probably null |
Het |
BC051665 |
A |
T |
13: 60,931,145 (GRCm39) |
F258I |
probably damaging |
Het |
Brd1 |
C |
T |
15: 88,573,821 (GRCm39) |
V1093I |
possibly damaging |
Het |
Ccdc125 |
A |
G |
13: 100,814,459 (GRCm39) |
D13G |
possibly damaging |
Het |
Ceacam18 |
T |
A |
7: 43,291,372 (GRCm39) |
H271Q |
probably damaging |
Het |
Cep104 |
A |
G |
4: 154,066,213 (GRCm39) |
Y137C |
probably damaging |
Het |
Clca3a1 |
A |
G |
3: 144,724,424 (GRCm39) |
V212A |
probably benign |
Het |
Clca3a2 |
A |
T |
3: 144,777,216 (GRCm39) |
M885K |
probably benign |
Het |
Col6a4 |
G |
T |
9: 105,949,313 (GRCm39) |
T774N |
probably damaging |
Het |
D430041D05Rik |
T |
C |
2: 104,085,403 (GRCm39) |
T1049A |
possibly damaging |
Het |
Dlk1 |
A |
G |
12: 109,426,239 (GRCm39) |
I276V |
probably benign |
Het |
E2f1 |
C |
G |
2: 154,405,942 (GRCm39) |
G144R |
probably damaging |
Het |
Efcab9 |
T |
C |
11: 32,477,420 (GRCm39) |
H34R |
probably benign |
Het |
Erc1 |
T |
A |
6: 119,801,921 (GRCm39) |
H32L |
probably damaging |
Het |
Ezh2 |
T |
C |
6: 47,532,998 (GRCm39) |
I141M |
possibly damaging |
Het |
Fbln1 |
T |
A |
15: 85,111,279 (GRCm39) |
C144* |
probably null |
Het |
Iqsec3 |
C |
T |
6: 121,353,214 (GRCm39) |
A1135T |
probably benign |
Het |
Irak4 |
T |
C |
15: 94,459,476 (GRCm39) |
I364T |
probably damaging |
Het |
Itpr1 |
T |
A |
6: 108,326,641 (GRCm39) |
I121N |
probably damaging |
Het |
Krtap17-1 |
A |
T |
11: 99,884,481 (GRCm39) |
C95* |
probably null |
Het |
Lrrd1 |
T |
A |
5: 3,900,282 (GRCm39) |
S196T |
probably benign |
Het |
Man2c1 |
A |
G |
9: 57,048,058 (GRCm39) |
Y748C |
probably damaging |
Het |
Map4 |
A |
G |
9: 109,867,742 (GRCm39) |
|
probably benign |
Het |
Mib2 |
A |
G |
4: 155,739,741 (GRCm39) |
F810S |
probably damaging |
Het |
Mtmr9 |
A |
G |
14: 63,780,997 (GRCm39) |
L31P |
probably damaging |
Het |
Myo5c |
A |
G |
9: 75,183,284 (GRCm39) |
Q886R |
probably damaging |
Het |
Nhsl3 |
A |
G |
4: 129,118,115 (GRCm39) |
|
probably benign |
Het |
Or2g1 |
T |
C |
17: 38,107,123 (GRCm39) |
S263P |
possibly damaging |
Het |
Or6c38 |
T |
A |
10: 128,929,175 (GRCm39) |
I223F |
probably damaging |
Het |
Or7h8 |
C |
T |
9: 20,124,556 (GRCm39) |
L304F |
probably damaging |
Het |
Paqr8 |
A |
G |
1: 21,005,856 (GRCm39) |
T337A |
probably benign |
Het |
Pdgfd |
A |
T |
9: 6,337,447 (GRCm39) |
|
probably benign |
Het |
Ppm1k |
T |
G |
6: 57,501,845 (GRCm39) |
E106A |
probably benign |
Het |
Rbp3 |
A |
T |
14: 33,677,969 (GRCm39) |
E639V |
probably damaging |
Het |
Rnf214 |
A |
C |
9: 45,778,901 (GRCm39) |
I581S |
probably damaging |
Het |
Scaf11 |
A |
G |
15: 96,316,417 (GRCm39) |
V1049A |
probably damaging |
Het |
Slc51a |
A |
G |
16: 32,295,292 (GRCm39) |
L262P |
probably benign |
Het |
Slc8a3 |
G |
T |
12: 81,250,912 (GRCm39) |
L684M |
probably damaging |
Het |
Spg7 |
G |
C |
8: 123,814,112 (GRCm39) |
R457P |
probably damaging |
Het |
Tnks1bp1 |
C |
T |
2: 84,889,066 (GRCm39) |
|
probably benign |
Het |
Vmn1r189 |
T |
C |
13: 22,286,382 (GRCm39) |
T152A |
probably benign |
Het |
Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
Zfp366 |
A |
G |
13: 99,365,352 (GRCm39) |
Y171C |
probably damaging |
Het |
|
Other mutations in Slc6a21 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00966:Slc6a21
|
APN |
7 |
44,937,668 (GRCm39) |
missense |
probably benign |
0.31 |
IGL01526:Slc6a21
|
APN |
7 |
44,937,220 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01670:Slc6a21
|
APN |
7 |
44,937,557 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL01975:Slc6a21
|
APN |
7 |
44,937,275 (GRCm39) |
missense |
probably benign |
0.28 |
IGL02064:Slc6a21
|
APN |
7 |
44,935,883 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL02441:Slc6a21
|
APN |
7 |
44,937,505 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02735:Slc6a21
|
APN |
7 |
44,936,061 (GRCm39) |
splice site |
probably benign |
|
IGL03097:Slc6a21
|
UTSW |
7 |
44,937,592 (GRCm39) |
nonsense |
probably null |
|
R0211:Slc6a21
|
UTSW |
7 |
44,937,667 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0211:Slc6a21
|
UTSW |
7 |
44,937,667 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0269:Slc6a21
|
UTSW |
7 |
44,936,332 (GRCm39) |
nonsense |
probably null |
|
R0336:Slc6a21
|
UTSW |
7 |
44,935,892 (GRCm39) |
missense |
probably damaging |
1.00 |
R1077:Slc6a21
|
UTSW |
7 |
44,937,626 (GRCm39) |
missense |
probably benign |
0.42 |
R1476:Slc6a21
|
UTSW |
7 |
44,922,052 (GRCm39) |
missense |
probably benign |
0.09 |
R1763:Slc6a21
|
UTSW |
7 |
44,937,158 (GRCm39) |
nonsense |
probably null |
|
R1792:Slc6a21
|
UTSW |
7 |
44,930,155 (GRCm39) |
missense |
probably benign |
0.04 |
R1796:Slc6a21
|
UTSW |
7 |
44,930,179 (GRCm39) |
missense |
probably damaging |
1.00 |
R1812:Slc6a21
|
UTSW |
7 |
44,932,371 (GRCm39) |
missense |
probably damaging |
1.00 |
R1868:Slc6a21
|
UTSW |
7 |
44,937,252 (GRCm39) |
missense |
probably benign |
0.13 |
R2121:Slc6a21
|
UTSW |
7 |
44,937,886 (GRCm39) |
missense |
probably benign |
0.04 |
R2129:Slc6a21
|
UTSW |
7 |
44,932,197 (GRCm39) |
splice site |
probably null |
|
R2294:Slc6a21
|
UTSW |
7 |
44,929,952 (GRCm39) |
missense |
possibly damaging |
0.83 |
R2295:Slc6a21
|
UTSW |
7 |
44,929,952 (GRCm39) |
missense |
possibly damaging |
0.83 |
R2409:Slc6a21
|
UTSW |
7 |
44,929,750 (GRCm39) |
missense |
probably benign |
0.15 |
R2858:Slc6a21
|
UTSW |
7 |
44,929,952 (GRCm39) |
missense |
possibly damaging |
0.83 |
R3498:Slc6a21
|
UTSW |
7 |
44,930,266 (GRCm39) |
missense |
probably damaging |
1.00 |
R4297:Slc6a21
|
UTSW |
7 |
44,937,186 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4510:Slc6a21
|
UTSW |
7 |
44,936,713 (GRCm39) |
missense |
probably damaging |
1.00 |
R4511:Slc6a21
|
UTSW |
7 |
44,936,713 (GRCm39) |
missense |
probably damaging |
1.00 |
R4876:Slc6a21
|
UTSW |
7 |
44,929,535 (GRCm39) |
nonsense |
probably null |
|
R4921:Slc6a21
|
UTSW |
7 |
44,937,734 (GRCm39) |
missense |
possibly damaging |
0.53 |
R5485:Slc6a21
|
UTSW |
7 |
44,931,966 (GRCm39) |
critical splice donor site |
probably null |
|
R5559:Slc6a21
|
UTSW |
7 |
44,937,853 (GRCm39) |
missense |
possibly damaging |
0.61 |
R6305:Slc6a21
|
UTSW |
7 |
44,930,028 (GRCm39) |
missense |
possibly damaging |
0.88 |
R6390:Slc6a21
|
UTSW |
7 |
44,936,426 (GRCm39) |
missense |
probably benign |
0.02 |
R6571:Slc6a21
|
UTSW |
7 |
44,930,303 (GRCm39) |
missense |
probably damaging |
0.99 |
R6792:Slc6a21
|
UTSW |
7 |
44,929,309 (GRCm39) |
start codon destroyed |
probably null |
0.02 |
R7235:Slc6a21
|
UTSW |
7 |
44,930,182 (GRCm39) |
missense |
probably damaging |
0.99 |
R7278:Slc6a21
|
UTSW |
7 |
44,931,904 (GRCm39) |
missense |
possibly damaging |
0.84 |
R7808:Slc6a21
|
UTSW |
7 |
44,932,360 (GRCm39) |
missense |
|
|
R9047:Slc6a21
|
UTSW |
7 |
44,936,398 (GRCm39) |
missense |
|
|
R9127:Slc6a21
|
UTSW |
7 |
44,929,674 (GRCm39) |
splice site |
probably benign |
|
R9299:Slc6a21
|
UTSW |
7 |
44,937,130 (GRCm39) |
missense |
|
|
R9524:Slc6a21
|
UTSW |
7 |
44,937,785 (GRCm39) |
missense |
probably benign |
|
R9640:Slc6a21
|
UTSW |
7 |
44,937,189 (GRCm39) |
missense |
|
|
R9748:Slc6a21
|
UTSW |
7 |
44,929,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGTGGCTACGTATGGACAAC -3'
(R):5'- TCTGACCAAAGGCAGGTATTG -3'
Sequencing Primer
(F):5'- GGGCTACTCCAACATACT -3'
(R):5'- GAGGTCCAGACACTTACAGGC -3'
|
Posted On |
2015-03-18 |