Incidental Mutation 'R1117:Slc36a3'
| ID |
97436 |
| 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 |
039190-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R1117 (G1)
|
| Quality Score |
221 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
55015641-55042534 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55037006 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 100
(I100V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020502
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020502]
[ENSMUST00000069816]
[ENSMUST00000128244]
|
| AlphaFold |
Q811P0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020502
AA Change: I100V
PolyPhen 2
Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000020502
Gene: ENSMUSG00000049491
AA Change: I100V
| 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: ENSMUST00000069816
|
| SMART Domains |
Protein: ENSMUSP00000064960
Gene: ENSMUSG00000049491
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
44 |
N/A |
INTRINSIC |
|
| 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: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1l2 |
G |
A |
10: 83,344,487 (GRCm39) |
T353I |
probably benign |
Het |
| Arpc1b |
T |
C |
5: 145,062,564 (GRCm39) |
V226A |
possibly damaging |
Het |
| Casz1 |
C |
A |
4: 149,019,052 (GRCm39) |
T451K |
probably damaging |
Het |
| Ccr4 |
C |
T |
9: 114,321,085 (GRCm39) |
V327M |
probably benign |
Het |
| Cntrl |
A |
G |
2: 35,017,985 (GRCm39) |
E465G |
probably damaging |
Het |
| Cpa1 |
A |
G |
6: 30,645,260 (GRCm39) |
D412G |
probably benign |
Het |
| Crispld1 |
T |
A |
1: 17,819,846 (GRCm39) |
N281K |
probably benign |
Het |
| Cul3 |
T |
C |
1: 80,258,641 (GRCm39) |
Q465R |
probably damaging |
Het |
| Cyp2c68 |
G |
A |
19: 39,700,903 (GRCm39) |
T305M |
probably damaging |
Het |
| Elp4 |
T |
C |
2: 105,672,656 (GRCm39) |
D143G |
probably benign |
Het |
| Etnppl |
A |
G |
3: 130,428,212 (GRCm39) |
I462M |
probably benign |
Het |
| Fmo4 |
A |
G |
1: 162,631,232 (GRCm39) |
V245A |
probably benign |
Het |
| Gm4076 |
A |
G |
13: 85,275,437 (GRCm39) |
|
noncoding transcript |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Kcnj15 |
G |
A |
16: 95,096,484 (GRCm39) |
M8I |
probably benign |
Het |
| Klk1b22 |
A |
T |
7: 43,766,283 (GRCm39) |
M255L |
probably benign |
Het |
| Mmrn1 |
T |
A |
6: 60,953,309 (GRCm39) |
I530K |
possibly damaging |
Het |
| Muc21 |
T |
C |
17: 35,930,920 (GRCm39) |
|
probably benign |
Het |
| Nid2 |
A |
C |
14: 19,813,732 (GRCm39) |
|
probably null |
Het |
| Or10g6 |
T |
C |
9: 39,934,058 (GRCm39) |
F123S |
probably damaging |
Het |
| Or10h28 |
C |
T |
17: 33,487,940 (GRCm39) |
R81* |
probably null |
Het |
| Or9e1 |
A |
G |
11: 58,732,641 (GRCm39) |
K234E |
possibly damaging |
Het |
| Peak1 |
G |
A |
9: 56,165,702 (GRCm39) |
T742M |
probably benign |
Het |
| Sel1l3 |
T |
A |
5: 53,329,949 (GRCm39) |
T469S |
probably benign |
Het |
| Sez6 |
A |
G |
11: 77,865,340 (GRCm39) |
Y659C |
probably damaging |
Het |
| Slc19a2 |
A |
T |
1: 164,091,025 (GRCm39) |
I278F |
possibly damaging |
Het |
| Tcerg1 |
A |
G |
18: 42,707,717 (GRCm39) |
D1079G |
probably damaging |
Het |
| Trim43c |
T |
C |
9: 88,727,030 (GRCm39) |
S286P |
probably benign |
Het |
| Umod |
T |
C |
7: 119,076,529 (GRCm39) |
N79S |
possibly damaging |
Het |
| Wdr43 |
A |
G |
17: 71,923,382 (GRCm39) |
T43A |
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 |
|
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 |
|
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'- AGACAGTTTCTGTCCAAGACTCCTCC -3'
(R):5'- GCCCCTCAGCAGTGACACTAAATAG -3'
Sequencing Primer
(F):5'- TTCTGTCCAAGACTCCTCCAAAATC -3'
(R):5'- tgcttgcttgcttgcttg -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation