Incidental Mutation 'R5559:Slc6a21'
ID |
436457 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc6a21
|
Ensembl Gene |
ENSMUSG00000070568 |
Gene Name |
solute carrier family 6 member 21 |
Synonyms |
1700039E15Rik |
MMRRC Submission |
043116-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
R5559 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
44926937-44938422 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 44937853 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Isoleucine
at position 390
(L390I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000082476
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085364]
[ENSMUST00000210861]
|
AlphaFold |
A0A1B0GSD2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000085364
AA Change: L390I
PolyPhen 2
Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000082476 Gene: ENSMUSG00000070568 AA Change: L390I
Domain | Start | End | E-Value | Type |
Pfam:SNF
|
1 |
306 |
8.3e-37 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176276
AA Change: L715I
PolyPhen 2
Score 0.438 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000135707 Gene: ENSMUSG00000070568 AA Change: L715I
Domain | Start | End | E-Value | Type |
Pfam:SNF
|
48 |
631 |
2e-103 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176985
AA Change: L324I
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209477
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209886
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210207
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210733
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210861
AA Change: L715I
PolyPhen 2
Score 0.438 (Sensitivity: 0.89; Specificity: 0.90)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 94.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310034C09Rik |
G |
T |
16: 88,555,981 (GRCm39) |
R65L |
unknown |
Het |
Abcc5 |
A |
T |
16: 20,157,636 (GRCm39) |
M1307K |
probably damaging |
Het |
Anapc1 |
A |
T |
2: 128,522,354 (GRCm39) |
C129* |
probably null |
Het |
Brd10 |
A |
C |
19: 29,694,363 (GRCm39) |
F1710C |
possibly damaging |
Het |
Brox |
A |
T |
1: 183,073,552 (GRCm39) |
S39R |
possibly damaging |
Het |
Ccdc168 |
C |
G |
1: 44,097,675 (GRCm39) |
R1141T |
possibly damaging |
Het |
Cd109 |
T |
C |
9: 78,568,250 (GRCm39) |
V310A |
probably benign |
Het |
Chd9 |
G |
A |
8: 91,742,553 (GRCm39) |
|
probably null |
Het |
Chmp2b |
A |
T |
16: 65,337,316 (GRCm39) |
I170N |
probably damaging |
Het |
Cnp |
G |
T |
11: 100,467,243 (GRCm39) |
G62V |
probably damaging |
Het |
Dcp2 |
C |
A |
18: 44,538,554 (GRCm39) |
P206T |
probably damaging |
Het |
Dhx57 |
A |
T |
17: 80,561,808 (GRCm39) |
V902E |
possibly damaging |
Het |
Dmwd |
G |
A |
7: 18,814,363 (GRCm39) |
V338M |
probably damaging |
Het |
Eva1c |
A |
G |
16: 90,701,139 (GRCm39) |
D258G |
probably benign |
Het |
Flvcr2 |
T |
A |
12: 85,851,181 (GRCm39) |
F448L |
probably benign |
Het |
Garin5b |
A |
G |
7: 4,761,449 (GRCm39) |
V421A |
probably damaging |
Het |
Gchfr |
C |
T |
2: 119,000,187 (GRCm39) |
H23Y |
probably benign |
Het |
Helz2 |
T |
A |
2: 180,871,919 (GRCm39) |
M2617L |
probably damaging |
Het |
Ighv5-9-1 |
A |
T |
12: 113,699,745 (GRCm39) |
Y122* |
probably null |
Het |
Lrrtm3 |
A |
G |
10: 63,766,045 (GRCm39) |
I514T |
probably benign |
Het |
Nolc1 |
GAGCAGCAGCAGCAGCAGCAGCAGCAGC |
GAGCAGCAGCAGCAGCAGCAGCAGC |
19: 46,071,594 (GRCm39) |
|
probably benign |
Het |
Obox5 |
A |
T |
7: 15,491,522 (GRCm39) |
I21F |
probably benign |
Het |
Or51f1 |
C |
T |
7: 102,506,414 (GRCm39) |
G25D |
possibly damaging |
Het |
P2rx2 |
T |
C |
5: 110,488,427 (GRCm39) |
I376V |
possibly damaging |
Het |
Poli |
A |
G |
18: 70,642,356 (GRCm39) |
S529P |
probably benign |
Het |
Ruvbl1 |
T |
C |
6: 88,450,078 (GRCm39) |
I83T |
possibly damaging |
Het |
Rwdd2a |
T |
C |
9: 86,456,483 (GRCm39) |
S220P |
probably damaging |
Het |
Serpinb9h |
T |
A |
13: 33,588,301 (GRCm39) |
D295E |
probably benign |
Het |
Sf3b3 |
A |
T |
8: 111,564,847 (GRCm39) |
D320E |
probably benign |
Het |
Smarcd1 |
T |
G |
15: 99,601,176 (GRCm39) |
|
probably null |
Het |
Sp1 |
T |
A |
15: 102,317,365 (GRCm39) |
S295T |
probably benign |
Het |
Tas2r104 |
T |
A |
6: 131,662,094 (GRCm39) |
H205L |
probably damaging |
Het |
Tmem69 |
C |
G |
4: 116,410,388 (GRCm39) |
G194A |
probably damaging |
Het |
Unc5c |
G |
T |
3: 141,509,548 (GRCm39) |
C676F |
probably damaging |
Het |
Unkl |
A |
G |
17: 25,424,687 (GRCm39) |
N52S |
probably benign |
Het |
Vmn1r233 |
T |
C |
17: 21,214,839 (GRCm39) |
Y37C |
possibly damaging |
Het |
Vmn1r57 |
A |
G |
7: 5,223,898 (GRCm39) |
N141S |
probably damaging |
Het |
Vmn2r50 |
T |
C |
7: 9,771,253 (GRCm39) |
Y816C |
probably damaging |
Het |
Vmn2r51 |
T |
A |
7: 9,826,128 (GRCm39) |
S540C |
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 |
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 |
|
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'- CTTAGAAAAGCCTCTGTCCTCC -3'
(R):5'- CCATCACTGGTTACCGAGAC -3'
Sequencing Primer
(F):5'- TCACGGTGCCCAACAGAGTC -3'
(R):5'- TTACCGAGACCCGACGATGTG -3'
|
Posted On |
2016-10-24 |