Incidental Mutation 'R6483:Slc36a3'
ID |
517219 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc36a3
|
Ensembl Gene |
ENSMUSG00000049491 |
Gene Name |
solute carrier family 36 (proton/amino acid symporter), member 3 |
Synonyms |
TRAMD2, PAT3, tramdorin2 |
MMRRC Submission |
044615-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.106)
|
Stock # |
R6483 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
55015641-55042534 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 55026089 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 243
(I243T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020502
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020502]
[ENSMUST00000128244]
|
AlphaFold |
Q811P0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020502
AA Change: I243T
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000020502 Gene: ENSMUSG00000049491 AA Change: I243T
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
44 |
N/A |
INTRINSIC |
Pfam:Aa_trans
|
50 |
459 |
7.2e-66 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128244
|
SMART Domains |
Protein: ENSMUSP00000116073 Gene: ENSMUSG00000049491
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
44 |
N/A |
INTRINSIC |
Pfam:Aa_trans
|
50 |
87 |
2.7e-7 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155883
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.0%
|
Validation Efficiency |
100% (46/46) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr8 |
T |
G |
14: 29,700,538 (GRCm39) |
L39R |
possibly damaging |
Het |
Amer3 |
T |
C |
1: 34,626,771 (GRCm39) |
S337P |
probably damaging |
Het |
Arhgef10l |
A |
T |
4: 140,344,226 (GRCm39) |
I12K |
probably damaging |
Het |
Atp2b4 |
A |
G |
1: 133,657,618 (GRCm39) |
V624A |
possibly damaging |
Het |
BB014433 |
A |
T |
8: 15,092,208 (GRCm39) |
L215Q |
probably benign |
Het |
Bod1l |
A |
G |
5: 41,978,425 (GRCm39) |
V963A |
probably benign |
Het |
Bpifa6 |
T |
C |
2: 153,832,354 (GRCm39) |
L287S |
probably benign |
Het |
Bsnd |
A |
T |
4: 106,345,212 (GRCm39) |
L78Q |
probably damaging |
Het |
C1qtnf3 |
T |
C |
15: 10,958,156 (GRCm39) |
|
probably null |
Het |
Ccdc180 |
T |
G |
4: 45,921,950 (GRCm39) |
V1008G |
probably benign |
Het |
Ccl1 |
T |
G |
11: 82,068,860 (GRCm39) |
D59A |
possibly damaging |
Het |
Cfap58 |
T |
C |
19: 47,971,891 (GRCm39) |
I607T |
probably benign |
Het |
Chd1l |
G |
A |
3: 97,494,483 (GRCm39) |
A399V |
probably damaging |
Het |
Cntnap4 |
C |
T |
8: 113,484,105 (GRCm39) |
P386L |
possibly damaging |
Het |
Col1a1 |
G |
A |
11: 94,833,444 (GRCm39) |
|
probably null |
Het |
Dnajc13 |
A |
T |
9: 104,085,003 (GRCm39) |
D798E |
probably damaging |
Het |
Eml6 |
T |
G |
11: 29,699,875 (GRCm39) |
I1754L |
probably benign |
Het |
Ercc8 |
T |
A |
13: 108,320,344 (GRCm39) |
V310D |
probably damaging |
Het |
Fat2 |
G |
A |
11: 55,187,171 (GRCm39) |
T1225I |
probably damaging |
Het |
Gba1 |
A |
G |
3: 89,115,910 (GRCm39) |
Y510C |
probably damaging |
Het |
Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
Gm43302 |
T |
A |
5: 105,423,726 (GRCm39) |
M416L |
probably benign |
Het |
Grxcr2 |
A |
T |
18: 42,124,955 (GRCm39) |
V151E |
probably benign |
Het |
Gtf2ird2 |
A |
G |
5: 134,240,066 (GRCm39) |
N296S |
probably benign |
Het |
Herc1 |
T |
A |
9: 66,355,811 (GRCm39) |
I2354N |
possibly damaging |
Het |
Inhbc |
G |
A |
10: 127,193,309 (GRCm39) |
R236* |
probably null |
Het |
Itpr2 |
T |
C |
6: 146,013,975 (GRCm39) |
D2607G |
possibly damaging |
Het |
Kcnh7 |
T |
A |
2: 62,676,118 (GRCm39) |
D298V |
probably benign |
Het |
Klrb1c |
A |
G |
6: 128,761,148 (GRCm39) |
S160P |
probably benign |
Het |
Mrgpra2a |
C |
G |
7: 47,076,437 (GRCm39) |
E274Q |
probably benign |
Het |
Muc5ac |
T |
A |
7: 141,356,591 (GRCm39) |
F1059L |
probably benign |
Het |
Naglu |
T |
C |
11: 100,962,007 (GRCm39) |
I160T |
probably damaging |
Het |
Nasp |
A |
T |
4: 116,476,145 (GRCm39) |
L47Q |
probably damaging |
Het |
Opa1 |
C |
T |
16: 29,447,525 (GRCm39) |
T873I |
possibly damaging |
Het |
Or10a3n |
C |
T |
7: 108,493,318 (GRCm39) |
V99M |
possibly damaging |
Het |
Or52x1 |
T |
C |
7: 104,853,500 (GRCm39) |
T17A |
probably benign |
Het |
Or8u10 |
C |
A |
2: 85,915,784 (GRCm39) |
M112I |
probably benign |
Het |
Pttg1 |
A |
G |
11: 43,315,671 (GRCm39) |
F48L |
probably damaging |
Het |
Rho |
T |
C |
6: 115,909,218 (GRCm39) |
F85L |
possibly damaging |
Het |
Rnasel |
T |
C |
1: 153,630,432 (GRCm39) |
V316A |
probably benign |
Het |
Tada2b |
G |
A |
5: 36,634,029 (GRCm39) |
T183M |
possibly damaging |
Het |
Tbc1d22a |
A |
G |
15: 86,185,768 (GRCm39) |
M286V |
possibly damaging |
Het |
Trim69 |
G |
T |
2: 121,998,081 (GRCm39) |
E18* |
probably null |
Het |
Ttn |
T |
C |
2: 76,772,394 (GRCm39) |
T2503A |
possibly damaging |
Het |
Uox |
C |
T |
3: 146,330,332 (GRCm39) |
R163* |
probably null |
Het |
Zfp654 |
T |
A |
16: 64,612,310 (GRCm39) |
N192I |
possibly damaging |
Het |
Zfp809 |
G |
A |
9: 22,147,540 (GRCm39) |
R58H |
probably benign |
Het |
|
Other mutations in Slc36a3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03104:Slc36a3
|
APN |
11 |
55,015,946 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03241:Slc36a3
|
APN |
11 |
55,015,934 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0632:Slc36a3
|
UTSW |
11 |
55,015,906 (GRCm39) |
missense |
probably damaging |
1.00 |
R1117:Slc36a3
|
UTSW |
11 |
55,037,006 (GRCm39) |
missense |
possibly damaging |
0.78 |
R1549:Slc36a3
|
UTSW |
11 |
55,033,596 (GRCm39) |
missense |
probably damaging |
1.00 |
R3423:Slc36a3
|
UTSW |
11 |
55,033,607 (GRCm39) |
missense |
probably benign |
0.00 |
R3425:Slc36a3
|
UTSW |
11 |
55,033,607 (GRCm39) |
missense |
probably benign |
0.00 |
R3791:Slc36a3
|
UTSW |
11 |
55,015,982 (GRCm39) |
missense |
possibly damaging |
0.95 |
R3980:Slc36a3
|
UTSW |
11 |
55,026,209 (GRCm39) |
missense |
probably benign |
|
R4970:Slc36a3
|
UTSW |
11 |
55,039,399 (GRCm39) |
missense |
probably damaging |
1.00 |
R4973:Slc36a3
|
UTSW |
11 |
55,037,630 (GRCm39) |
splice site |
probably benign |
|
R4986:Slc36a3
|
UTSW |
11 |
55,037,592 (GRCm39) |
makesense |
probably null |
|
R5112:Slc36a3
|
UTSW |
11 |
55,039,399 (GRCm39) |
missense |
probably damaging |
1.00 |
R5399:Slc36a3
|
UTSW |
11 |
55,037,006 (GRCm39) |
missense |
possibly damaging |
0.78 |
R5534:Slc36a3
|
UTSW |
11 |
55,033,595 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5580:Slc36a3
|
UTSW |
11 |
55,026,279 (GRCm39) |
missense |
probably benign |
0.14 |
R5682:Slc36a3
|
UTSW |
11 |
55,016,489 (GRCm39) |
missense |
probably benign |
0.00 |
R5779:Slc36a3
|
UTSW |
11 |
55,026,094 (GRCm39) |
nonsense |
probably null |
|
R5841:Slc36a3
|
UTSW |
11 |
55,016,547 (GRCm39) |
nonsense |
probably null |
|
R6228:Slc36a3
|
UTSW |
11 |
55,015,777 (GRCm39) |
missense |
probably benign |
0.01 |
R6908:Slc36a3
|
UTSW |
11 |
55,040,712 (GRCm39) |
intron |
probably benign |
|
R6927:Slc36a3
|
UTSW |
11 |
55,020,519 (GRCm39) |
missense |
probably damaging |
0.98 |
R7828:Slc36a3
|
UTSW |
11 |
55,042,024 (GRCm39) |
missense |
probably benign |
0.00 |
R7995:Slc36a3
|
UTSW |
11 |
55,020,495 (GRCm39) |
missense |
probably benign |
0.04 |
R8212:Slc36a3
|
UTSW |
11 |
55,015,907 (GRCm39) |
missense |
probably damaging |
1.00 |
R8238:Slc36a3
|
UTSW |
11 |
55,022,433 (GRCm39) |
missense |
probably benign |
0.05 |
R8239:Slc36a3
|
UTSW |
11 |
55,022,433 (GRCm39) |
missense |
probably benign |
0.05 |
R8329:Slc36a3
|
UTSW |
11 |
55,039,409 (GRCm39) |
missense |
probably damaging |
1.00 |
R8929:Slc36a3
|
UTSW |
11 |
55,028,137 (GRCm39) |
missense |
probably damaging |
1.00 |
R9034:Slc36a3
|
UTSW |
11 |
55,016,515 (GRCm39) |
missense |
probably damaging |
0.99 |
R9489:Slc36a3
|
UTSW |
11 |
55,040,726 (GRCm39) |
missense |
unknown |
|
R9506:Slc36a3
|
UTSW |
11 |
55,039,457 (GRCm39) |
missense |
probably benign |
0.14 |
R9661:Slc36a3
|
UTSW |
11 |
55,015,984 (GRCm39) |
missense |
probably benign |
0.00 |
R9696:Slc36a3
|
UTSW |
11 |
55,026,161 (GRCm39) |
missense |
possibly damaging |
0.52 |
R9735:Slc36a3
|
UTSW |
11 |
55,026,104 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Slc36a3
|
UTSW |
11 |
55,026,278 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Predicted Primers |
PCR Primer
(F):5'- CCATGATGCCGAAGATGAGG -3'
(R):5'- TGTCGTTCTGGCAGATCATG -3'
Sequencing Primer
(F):5'- GGTGTAGATGATAGTGATGCCTAGC -3'
(R):5'- TTCTGGCAGATCATGGAAGAAGCC -3'
|
Posted On |
2018-05-21 |