Incidental Mutation 'R3791:Slc36a3'
ID |
272548 |
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 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.124)
|
Stock # |
R3791 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
55015641-55042534 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 55015982 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 391
(S391P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020502
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020502]
[ENSMUST00000128244]
|
AlphaFold |
Q811P0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020502
AA Change: S391P
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000020502 Gene: ENSMUSG00000049491 AA Change: S391P
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 |
noncoding transcript
Transcript: ENSMUST00000121611
|
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 |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 93.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A630073D07Rik |
AGGTGGTGGTGGTGGTGGTGGTGG |
AGGTGGTGGTGGTGGTGGTGG |
6: 132,603,479 (GRCm39) |
|
probably benign |
Het |
A930009A15Rik |
A |
T |
10: 115,414,194 (GRCm39) |
|
probably benign |
Het |
Adgrv1 |
T |
C |
13: 81,741,221 (GRCm39) |
Y81C |
probably damaging |
Het |
Alx3 |
A |
T |
3: 107,508,022 (GRCm39) |
Y177F |
probably damaging |
Het |
C6 |
A |
G |
15: 4,764,717 (GRCm39) |
T138A |
probably benign |
Het |
Cacna2d3 |
T |
C |
14: 28,905,538 (GRCm39) |
M410V |
probably benign |
Het |
Ccn4 |
A |
G |
15: 66,791,137 (GRCm39) |
Y313C |
probably damaging |
Het |
Celsr3 |
G |
A |
9: 108,719,751 (GRCm39) |
R2450H |
probably benign |
Het |
Cnrip1 |
C |
T |
11: 17,004,845 (GRCm39) |
|
probably benign |
Het |
Col6a5 |
A |
C |
9: 105,741,868 (GRCm39) |
D2350E |
probably damaging |
Het |
Cyp4a12b |
A |
G |
4: 115,292,167 (GRCm39) |
I407V |
probably benign |
Het |
Gpx4 |
A |
G |
10: 79,892,023 (GRCm39) |
I245V |
probably benign |
Het |
H2-K2 |
A |
G |
17: 34,218,499 (GRCm39) |
I139T |
probably benign |
Het |
Hmgcl |
A |
G |
4: 135,687,298 (GRCm39) |
K191R |
probably benign |
Het |
Hpdl |
A |
G |
4: 116,677,729 (GRCm39) |
V244A |
possibly damaging |
Het |
Hpse |
A |
G |
5: 100,840,104 (GRCm39) |
S338P |
probably damaging |
Het |
Ifi203 |
T |
C |
1: 173,762,646 (GRCm39) |
K162R |
possibly damaging |
Het |
Kit |
A |
G |
5: 75,799,810 (GRCm39) |
N514S |
probably damaging |
Het |
Kmt2d |
G |
A |
15: 98,742,030 (GRCm39) |
|
probably benign |
Het |
Limd1 |
T |
A |
9: 123,309,439 (GRCm39) |
S379R |
possibly damaging |
Het |
Llph |
A |
G |
10: 120,064,060 (GRCm39) |
K59E |
probably benign |
Het |
Lrrc7 |
T |
A |
3: 157,869,593 (GRCm39) |
M709L |
probably benign |
Het |
Muc5ac |
A |
G |
7: 141,352,238 (GRCm39) |
S665G |
probably benign |
Het |
Ncapd3 |
C |
T |
9: 26,963,931 (GRCm39) |
H524Y |
probably benign |
Het |
Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
Or51s1 |
T |
C |
7: 102,558,239 (GRCm39) |
D269G |
probably benign |
Het |
Phtf2 |
T |
C |
5: 20,987,296 (GRCm39) |
E400G |
probably damaging |
Het |
Pkd1l3 |
T |
C |
8: 110,362,949 (GRCm39) |
V1080A |
probably damaging |
Het |
Plch1 |
A |
T |
3: 63,606,944 (GRCm39) |
H1007Q |
probably benign |
Het |
Prr5 |
T |
C |
15: 84,565,417 (GRCm39) |
S3P |
probably damaging |
Het |
Qtrt1 |
G |
A |
9: 21,330,636 (GRCm39) |
D279N |
probably damaging |
Het |
Rundc1 |
G |
A |
11: 101,325,027 (GRCm39) |
A578T |
probably damaging |
Het |
Shc4 |
A |
T |
2: 125,565,251 (GRCm39) |
V16E |
probably damaging |
Het |
Sik3 |
A |
T |
9: 46,106,120 (GRCm39) |
L329F |
possibly damaging |
Het |
Smad1 |
C |
A |
8: 80,066,399 (GRCm39) |
R426L |
probably damaging |
Het |
Tent4b |
G |
A |
8: 88,969,957 (GRCm39) |
E210K |
probably damaging |
Het |
Thrap3 |
A |
T |
4: 126,061,293 (GRCm39) |
N820K |
possibly damaging |
Het |
Tnrc6b |
T |
C |
15: 80,807,841 (GRCm39) |
S1598P |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,545,168 (GRCm39) |
I32645V |
probably damaging |
Het |
Zfp266 |
A |
C |
9: 20,410,777 (GRCm39) |
Y467D |
probably damaging |
Het |
Zfp526 |
T |
A |
7: 24,925,628 (GRCm39) |
M629K |
probably damaging |
Het |
Zfp788 |
A |
T |
7: 41,299,152 (GRCm39) |
H596L |
probably damaging |
Het |
Zhx3 |
A |
G |
2: 160,622,368 (GRCm39) |
W600R |
possibly damaging |
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 |
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 |
R6483:Slc36a3
|
UTSW |
11 |
55,026,089 (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'- TAAGAGGCCCAGGATGCTGATC -3'
(R):5'- TGCCACTTGCCTCTGAGATC -3'
Sequencing Primer
(F):5'- CCAGGATGCTGATCATGATGTCC -3'
(R):5'- TAGATGACAGGACACTTGATTCCCTC -3'
|
Posted On |
2015-03-25 |