Incidental Mutation 'R3425:Slc36a3'
| ID |
271729 |
| 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 |
040643-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.124)
|
| Stock # |
R3425 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
55015641-55042534 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 55033607 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 137
(T137K)
|
| 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: T137K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000020502
Gene: ENSMUSG00000049491
AA Change: T137K
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
97% (30/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap5m1 |
A |
G |
14: 49,311,140 (GRCm39) |
E70G |
probably damaging |
Het |
| Atp8b3 |
T |
C |
10: 80,372,181 (GRCm39) |
E16G |
probably benign |
Het |
| Csmd3 |
A |
T |
15: 47,710,648 (GRCm39) |
D1646E |
probably damaging |
Het |
| Cyp2c70 |
G |
T |
19: 40,172,468 (GRCm39) |
A58E |
probably damaging |
Het |
| Ddx11 |
T |
C |
17: 66,446,434 (GRCm39) |
I415T |
possibly damaging |
Het |
| Gm8674 |
T |
A |
13: 50,055,792 (GRCm39) |
|
noncoding transcript |
Het |
| H2-T22 |
A |
C |
17: 36,352,472 (GRCm39) |
L151R |
probably damaging |
Het |
| Hmgcs1 |
C |
A |
13: 120,166,668 (GRCm39) |
P420Q |
probably damaging |
Het |
| Il16 |
T |
C |
7: 83,293,248 (GRCm39) |
E575G |
probably damaging |
Het |
| Ism2 |
T |
C |
12: 87,333,871 (GRCm39) |
N58S |
probably benign |
Het |
| Kat7 |
T |
C |
11: 95,193,991 (GRCm39) |
E103G |
probably damaging |
Het |
| Klf15 |
T |
C |
6: 90,443,802 (GRCm39) |
S126P |
probably benign |
Het |
| Mapt |
C |
T |
11: 104,189,548 (GRCm39) |
R189* |
probably null |
Het |
| Meltf |
C |
T |
16: 31,715,343 (GRCm39) |
R679* |
probably null |
Het |
| Myo1d |
T |
C |
11: 80,492,464 (GRCm39) |
T764A |
probably benign |
Het |
| Mypn |
T |
C |
10: 62,954,196 (GRCm39) |
|
probably benign |
Het |
| Or5b101 |
G |
C |
19: 13,005,411 (GRCm39) |
A94G |
probably benign |
Het |
| Or8h8 |
C |
T |
2: 86,752,950 (GRCm39) |
E309K |
probably benign |
Het |
| Ptpn4 |
T |
C |
1: 119,635,560 (GRCm39) |
D381G |
probably benign |
Het |
| Ros1 |
C |
A |
10: 52,004,512 (GRCm39) |
|
probably null |
Het |
| Scel |
T |
G |
14: 103,845,542 (GRCm39) |
V559G |
possibly damaging |
Het |
| Sez6l |
T |
C |
5: 112,574,615 (GRCm39) |
D875G |
probably damaging |
Het |
| Slc18b1 |
T |
G |
10: 23,698,874 (GRCm39) |
M348R |
probably damaging |
Het |
| Slco4c1 |
A |
T |
1: 96,768,976 (GRCm39) |
S295R |
probably benign |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Tmprss15 |
A |
T |
16: 78,800,321 (GRCm39) |
N587K |
possibly damaging |
Het |
| Upp1 |
T |
C |
11: 9,075,700 (GRCm39) |
|
probably null |
Het |
| Zp1 |
G |
A |
19: 10,895,956 (GRCm39) |
R227W |
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 |
|
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 |
|
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'- GTGGGGAGATACTCTATCTTGC -3'
(R):5'- GGTGTCCTTATTAGAGAGTGCAC -3'
Sequencing Primer
(F):5'- CCTAGCGGAACTTGCAGTCATATG -3'
(R):5'- GTCCTTATTAGAGAGTGCACAGAAC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation