Incidental Mutation 'R0269:Slc6a21'
ID |
35142 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc6a21
|
Ensembl Gene |
ENSMUSG00000070568 |
Gene Name |
solute carrier family 6 member 21 |
Synonyms |
1700039E15Rik |
MMRRC Submission |
038495-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
R0269 (G1)
|
Quality Score |
90 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
44926937-44938422 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 44936332 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 428
(Y428*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147890
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085364]
[ENSMUST00000210861]
|
AlphaFold |
A0A1B0GSD2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000085364
AA Change: Y103*
|
SMART Domains |
Protein: ENSMUSP00000082476 Gene: ENSMUSG00000070568 AA Change: Y103*
Domain | Start | End | E-Value | Type |
Pfam:SNF
|
1 |
306 |
8.3e-37 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000176276
AA Change: Y428*
|
SMART Domains |
Protein: ENSMUSP00000135707 Gene: ENSMUSG00000070568 AA Change: Y428*
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 null
Transcript: ENSMUST00000210207
AA Change: Y135*
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210733
|
Predicted Effect |
probably null
Transcript: ENSMUST00000210861
AA Change: Y428*
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.8%
- 10x: 96.1%
- 20x: 93.6%
|
Validation Efficiency |
100% (59/59) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5031439G07Rik |
C |
T |
15: 84,838,201 (GRCm39) |
V231I |
possibly damaging |
Het |
Abca1 |
T |
C |
4: 53,044,228 (GRCm39) |
D1798G |
probably benign |
Het |
Adcy2 |
T |
A |
13: 68,826,725 (GRCm39) |
K660* |
probably null |
Het |
Alk |
G |
T |
17: 72,910,578 (GRCm39) |
P43T |
probably damaging |
Het |
Amhr2 |
T |
C |
15: 102,355,503 (GRCm39) |
C189R |
probably benign |
Het |
Arrb1 |
T |
C |
7: 99,243,884 (GRCm39) |
L278P |
probably damaging |
Het |
AW551984 |
T |
C |
9: 39,511,246 (GRCm39) |
Y153C |
probably damaging |
Het |
Bpifb1 |
A |
G |
2: 154,054,867 (GRCm39) |
D253G |
possibly damaging |
Het |
Bpifb9b |
C |
T |
2: 154,161,545 (GRCm39) |
T559M |
probably benign |
Het |
Cd46 |
T |
G |
1: 194,746,996 (GRCm39) |
I339L |
probably benign |
Het |
Cdkn2aip |
A |
G |
8: 48,165,012 (GRCm39) |
S234P |
probably damaging |
Het |
Chil3 |
T |
C |
3: 106,063,072 (GRCm39) |
K173E |
probably benign |
Het |
Csf2rb2 |
G |
T |
15: 78,173,065 (GRCm39) |
T265N |
probably benign |
Het |
Cyp2c40 |
A |
G |
19: 39,762,340 (GRCm39) |
F436L |
probably damaging |
Het |
D130040H23Rik |
T |
C |
8: 69,753,446 (GRCm39) |
F24S |
probably benign |
Het |
Defb12 |
G |
T |
8: 19,164,375 (GRCm39) |
A34E |
probably damaging |
Het |
Fam234a |
A |
T |
17: 26,435,591 (GRCm39) |
D264E |
probably benign |
Het |
Fbxl17 |
A |
C |
17: 63,691,987 (GRCm39) |
F42V |
probably damaging |
Het |
Gldc |
T |
A |
19: 30,096,002 (GRCm39) |
I670F |
probably damaging |
Het |
Guf1 |
A |
C |
5: 69,716,942 (GRCm39) |
Q168P |
probably damaging |
Het |
Hcn2 |
A |
G |
10: 79,570,075 (GRCm39) |
|
probably benign |
Het |
Hddc2 |
A |
G |
10: 31,203,942 (GRCm39) |
M190V |
probably benign |
Het |
Kcnq2 |
T |
C |
2: 180,738,767 (GRCm39) |
E294G |
probably benign |
Het |
Kdelr1 |
T |
A |
7: 45,523,463 (GRCm39) |
|
probably benign |
Het |
Kidins220 |
T |
A |
12: 25,090,511 (GRCm39) |
H1158Q |
probably damaging |
Het |
Laptm5 |
A |
T |
4: 130,658,127 (GRCm39) |
N185Y |
probably benign |
Het |
Mgat4a |
A |
G |
1: 37,529,388 (GRCm39) |
Y164H |
possibly damaging |
Het |
Mlh3 |
C |
A |
12: 85,315,179 (GRCm39) |
V336L |
probably benign |
Het |
Myadm |
A |
G |
7: 3,345,273 (GRCm39) |
T12A |
unknown |
Het |
Nol8 |
T |
C |
13: 49,807,921 (GRCm39) |
F46L |
possibly damaging |
Het |
Ntrk1 |
T |
C |
3: 87,691,240 (GRCm39) |
D308G |
possibly damaging |
Het |
Oog3 |
A |
T |
4: 143,886,784 (GRCm39) |
V112D |
probably benign |
Het |
Or4a66 |
A |
G |
2: 88,531,040 (GRCm39) |
V211A |
probably damaging |
Het |
Or5af2 |
T |
C |
11: 58,707,975 (GRCm39) |
V47A |
probably damaging |
Het |
Or5m9b |
A |
G |
2: 85,905,485 (GRCm39) |
M134V |
probably benign |
Het |
Or8g34 |
T |
C |
9: 39,373,090 (GRCm39) |
M118T |
probably damaging |
Het |
Or9s18 |
A |
T |
13: 65,300,692 (GRCm39) |
Y218F |
possibly damaging |
Het |
Pramel14 |
A |
G |
4: 143,720,088 (GRCm39) |
|
probably benign |
Het |
Prss39 |
A |
T |
1: 34,539,279 (GRCm39) |
H173L |
probably damaging |
Het |
Rabl6 |
A |
G |
2: 25,476,878 (GRCm39) |
|
probably null |
Het |
Recql5 |
T |
C |
11: 115,819,050 (GRCm39) |
D172G |
possibly damaging |
Het |
Reln |
T |
C |
5: 22,125,535 (GRCm39) |
D2716G |
probably damaging |
Het |
Rgs7 |
A |
G |
1: 175,098,386 (GRCm39) |
S58P |
possibly damaging |
Het |
Sema6d |
T |
A |
2: 124,502,665 (GRCm39) |
F583L |
possibly damaging |
Het |
Sgsm1 |
T |
C |
5: 113,434,795 (GRCm39) |
|
probably null |
Het |
Slc22a19 |
A |
T |
19: 7,686,986 (GRCm39) |
|
probably benign |
Het |
Smarca4 |
T |
G |
9: 21,547,497 (GRCm39) |
M260R |
probably benign |
Het |
Smg6 |
C |
A |
11: 75,053,757 (GRCm39) |
T1413K |
probably benign |
Het |
Spata17 |
T |
C |
1: 186,830,069 (GRCm39) |
I322V |
probably benign |
Het |
Stxbp1 |
A |
C |
2: 32,692,795 (GRCm39) |
I407S |
probably damaging |
Het |
Sult1d1 |
A |
T |
5: 87,712,661 (GRCm39) |
I61N |
probably damaging |
Het |
Sytl2 |
T |
C |
7: 90,052,228 (GRCm39) |
|
probably benign |
Het |
Tm4sf5 |
T |
A |
11: 70,401,495 (GRCm39) |
S165T |
probably damaging |
Het |
Tmx2 |
T |
C |
2: 84,502,740 (GRCm39) |
D256G |
probably benign |
Het |
Trmt11 |
T |
A |
10: 30,463,485 (GRCm39) |
H210L |
probably benign |
Het |
Tut7 |
A |
T |
13: 59,964,669 (GRCm39) |
|
probably null |
Het |
Ush2a |
T |
A |
1: 188,542,373 (GRCm39) |
M3313K |
probably benign |
Het |
Zfp955b |
A |
T |
17: 33,524,437 (GRCm39) |
S43R |
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 |
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 |
|
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'- ACACTGTGGCTCATATCCGACAAC -3'
(R):5'- TCAAAGTGGATTGGGGCACACTG -3'
Sequencing Primer
(F):5'- CCCAGAAAACGCTGGGTG -3'
(R):5'- GACATGAAGAAGATGATGGCCC -3'
|
Posted On |
2013-05-09 |