Incidental Mutation 'R2295:Slc6a21'
| ID |
245139 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc6a21
|
| Ensembl Gene |
ENSMUSG00000070568 |
| Gene Name |
solute carrier family 6 member 21 |
| Synonyms |
1700039E15Rik |
| MMRRC Submission |
040294-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R2295 (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 44929952 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 147
(A147T)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000176276
AA Change: A147T
PolyPhen 2
Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000135707
Gene: ENSMUSG00000070568
AA Change: A147T
| 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 |
possibly damaging
Transcript: ENSMUST00000210861
AA Change: A147T
PolyPhen 2
Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (41/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
C |
11: 110,039,729 (GRCm39) |
Y428C |
probably damaging |
Het |
| Adgrd1 |
G |
A |
5: 129,199,570 (GRCm39) |
V136I |
probably benign |
Het |
| Aldh5a1 |
A |
G |
13: 25,110,082 (GRCm39) |
F151S |
probably damaging |
Het |
| Alox12 |
T |
C |
11: 70,133,291 (GRCm39) |
I638V |
probably benign |
Het |
| Arhgap42 |
A |
T |
9: 9,115,745 (GRCm39) |
D110E |
probably damaging |
Het |
| Capn15 |
G |
A |
17: 26,183,555 (GRCm39) |
R309* |
probably null |
Het |
| Crmp1 |
A |
G |
5: 37,422,606 (GRCm39) |
I138V |
probably benign |
Het |
| Dennd3 |
G |
A |
15: 73,395,404 (GRCm39) |
|
probably null |
Het |
| Dsp |
T |
C |
13: 38,381,022 (GRCm39) |
V1990A |
probably benign |
Het |
| Dtna |
T |
G |
18: 23,764,469 (GRCm39) |
L546R |
probably damaging |
Het |
| Elac1 |
T |
C |
18: 73,872,300 (GRCm39) |
I232V |
probably benign |
Het |
| Hdgfl1 |
C |
T |
13: 26,953,345 (GRCm39) |
E243K |
possibly damaging |
Het |
| Hexb |
A |
G |
13: 97,322,120 (GRCm39) |
S222P |
probably damaging |
Het |
| Hs6st3 |
A |
G |
14: 119,375,857 (GRCm39) |
T11A |
probably benign |
Het |
| Il18 |
A |
G |
9: 50,490,635 (GRCm39) |
E90G |
probably benign |
Het |
| Itga8 |
T |
C |
2: 12,187,520 (GRCm39) |
T720A |
probably benign |
Het |
| Kcnt1 |
G |
T |
2: 25,790,933 (GRCm39) |
A11S |
probably damaging |
Het |
| Luzp2 |
T |
C |
7: 54,821,938 (GRCm39) |
|
probably benign |
Het |
| Mpped2 |
A |
G |
2: 106,529,846 (GRCm39) |
N32D |
possibly damaging |
Het |
| Nfic |
T |
C |
10: 81,256,365 (GRCm39) |
K122E |
probably damaging |
Het |
| Ntm |
A |
G |
9: 29,020,817 (GRCm39) |
V134A |
possibly damaging |
Het |
| Olfml2b |
G |
A |
1: 170,490,107 (GRCm39) |
|
probably benign |
Het |
| Or56a4 |
A |
G |
7: 104,806,532 (GRCm39) |
V119A |
probably benign |
Het |
| Or9q2 |
A |
T |
19: 13,772,108 (GRCm39) |
I289N |
probably damaging |
Het |
| Osbpl9 |
A |
G |
4: 109,059,331 (GRCm39) |
Y28H |
probably damaging |
Het |
| Pikfyve |
T |
A |
1: 65,285,835 (GRCm39) |
Y1025N |
probably damaging |
Het |
| Pip5k1c |
G |
A |
10: 81,141,020 (GRCm39) |
A43T |
probably benign |
Het |
| Polb |
A |
G |
8: 23,143,335 (GRCm39) |
L19P |
probably damaging |
Het |
| Ppp1r14c |
T |
C |
10: 3,316,734 (GRCm39) |
F23S |
possibly damaging |
Het |
| Prkab1 |
A |
T |
5: 116,159,715 (GRCm39) |
|
probably null |
Het |
| Slco6c1 |
A |
G |
1: 97,053,473 (GRCm39) |
S143P |
probably damaging |
Het |
| Spen |
T |
C |
4: 141,204,584 (GRCm39) |
N1348D |
unknown |
Het |
| Srgap1 |
T |
C |
10: 121,630,665 (GRCm39) |
K751R |
probably benign |
Het |
| Sult2a1 |
A |
G |
7: 13,569,884 (GRCm39) |
|
probably null |
Het |
| Svopl |
C |
A |
6: 37,996,668 (GRCm39) |
A270S |
possibly damaging |
Het |
| Tekt2 |
T |
C |
4: 126,217,486 (GRCm39) |
|
probably null |
Het |
| Toporsl |
A |
G |
4: 52,610,176 (GRCm39) |
D23G |
probably damaging |
Het |
| Trim30d |
A |
C |
7: 104,137,149 (GRCm39) |
C18W |
probably damaging |
Het |
| Trmt11 |
G |
C |
10: 30,423,744 (GRCm39) |
P387R |
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 |
|
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 |
|
R3751:Slc6a21
|
UTSW |
7 |
44,929,928 (GRCm39) |
missense |
probably benign |
|
|
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'- GACAGTGGCTACGTATGGAC -3'
(R):5'- TCTGACCAAAGGCAGGTATTG -3'
Sequencing Primer
(F):5'- TGGCTACGTATGGACAACATC -3'
(R):5'- ATTGCCTGCTGAGGAGGGTAG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation