Incidental Mutation 'R4541:Slc36a1'
| ID |
333540 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc36a1
|
| Ensembl Gene |
ENSMUSG00000020261 |
| Gene Name |
solute carrier family 36 (proton/amino acid symporter), member 1 |
| Synonyms |
Pat1, 5830411H19Rik |
| MMRRC Submission |
041777-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.661)
|
| Stock # |
R4541 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
55095176-55127156 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55112849 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 148
(V148A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104500
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020499]
[ENSMUST00000108867]
[ENSMUST00000108872]
[ENSMUST00000147506]
|
| AlphaFold |
Q8K4D3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020499
AA Change: V148A
PolyPhen 2
Score 0.348 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000020499
Gene: ENSMUSG00000020261
AA Change: V148A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
36 |
N/A |
INTRINSIC |
|
Pfam:Aa_trans
|
44 |
456 |
5e-77 |
PFAM |
|
low complexity region
|
462 |
472 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108867
AA Change: V148A
PolyPhen 2
Score 0.348 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000104495
Gene: ENSMUSG00000020261
AA Change: V148A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
36 |
N/A |
INTRINSIC |
|
Pfam:Aa_trans
|
44 |
456 |
5e-77 |
PFAM |
|
low complexity region
|
462 |
472 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108872
AA Change: V148A
PolyPhen 2
Score 0.348 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000104500
Gene: ENSMUSG00000020261
AA Change: V148A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
36 |
N/A |
INTRINSIC |
|
Pfam:Aa_trans
|
44 |
456 |
1.6e-77 |
PFAM |
|
low complexity region
|
462 |
472 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147506
AA Change: V148A
PolyPhen 2
Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000121398
Gene: ENSMUSG00000020261
AA Change: V148A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
36 |
N/A |
INTRINSIC |
|
Pfam:Aa_trans
|
44 |
164 |
1e-23 |
PFAM |
|
| Meta Mutation Damage Score |
0.1139 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
96% (51/53) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the eukaryote-specific amino acid/auxin permease (AAAP) 1 transporter family. The encoded protein functions as a proton-dependent, small amino acid transporter. This gene is clustered with related family members on chromosome 5q33.1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
C |
T |
11: 58,769,676 (GRCm39) |
P73S |
probably benign |
Het |
| 4930533L02Rik |
G |
A |
7: 124,917,750 (GRCm39) |
|
noncoding transcript |
Het |
| Acot4 |
A |
T |
12: 84,090,022 (GRCm39) |
I240F |
probably benign |
Het |
| B4galt6 |
A |
G |
18: 20,878,496 (GRCm39) |
V10A |
probably benign |
Het |
| Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
| Ccnb3 |
T |
C |
X: 6,875,308 (GRCm39) |
T424A |
probably benign |
Het |
| Cd8a |
A |
T |
6: 71,350,856 (GRCm39) |
D107V |
probably benign |
Het |
| Cdca7l |
T |
C |
12: 117,836,098 (GRCm39) |
S190P |
probably damaging |
Het |
| Ceacam12 |
G |
A |
7: 17,805,648 (GRCm39) |
M278I |
probably benign |
Het |
| Cfap43 |
C |
T |
19: 47,736,454 (GRCm39) |
V1346I |
probably benign |
Het |
| Clic5 |
C |
T |
17: 44,552,956 (GRCm39) |
T70M |
probably damaging |
Het |
| Dbpht2 |
A |
T |
12: 74,345,934 (GRCm39) |
|
noncoding transcript |
Het |
| Ddhd1 |
G |
A |
14: 45,860,313 (GRCm39) |
R140* |
probably null |
Het |
| Evpl |
T |
G |
11: 116,123,470 (GRCm39) |
I301L |
probably benign |
Het |
| Glul |
T |
A |
1: 153,778,782 (GRCm39) |
Y30* |
probably null |
Het |
| Itgad |
A |
T |
7: 127,797,287 (GRCm39) |
H878L |
probably benign |
Het |
| Kcnk10 |
A |
G |
12: 98,402,536 (GRCm39) |
I301T |
probably damaging |
Het |
| Klhl14 |
A |
T |
18: 21,687,696 (GRCm39) |
Y575* |
probably null |
Het |
| Mrps2 |
G |
T |
2: 28,358,412 (GRCm39) |
|
probably benign |
Het |
| Mymx |
GCC |
GC |
17: 45,912,519 (GRCm39) |
|
probably null |
Het |
| Napb |
G |
A |
2: 148,551,229 (GRCm39) |
|
probably benign |
Het |
| Nlrp1c-ps |
A |
G |
11: 71,171,706 (GRCm39) |
|
noncoding transcript |
Het |
| Or10g9b |
A |
C |
9: 39,917,589 (GRCm39) |
S219A |
possibly damaging |
Het |
| Or4f15 |
A |
G |
2: 111,813,981 (GRCm39) |
I146T |
probably benign |
Het |
| Piwil4 |
C |
A |
9: 14,629,612 (GRCm39) |
M438I |
probably damaging |
Het |
| Pla2r1 |
C |
T |
2: 60,258,082 (GRCm39) |
D1199N |
probably damaging |
Het |
| Pmpca |
T |
G |
2: 26,280,201 (GRCm39) |
|
probably benign |
Het |
| Prkcq |
G |
T |
2: 11,288,623 (GRCm39) |
M525I |
possibly damaging |
Het |
| Rnf225 |
T |
C |
7: 12,662,520 (GRCm39) |
|
probably null |
Het |
| Sco1 |
G |
T |
11: 66,943,668 (GRCm39) |
A50S |
probably benign |
Het |
| Slc12a2 |
T |
A |
18: 58,046,037 (GRCm39) |
|
probably null |
Het |
| Sost |
G |
A |
11: 101,857,670 (GRCm39) |
P44S |
probably damaging |
Het |
| Tbc1d10c |
G |
T |
19: 4,239,473 (GRCm39) |
R96S |
probably damaging |
Het |
| Tbc1d2b |
A |
T |
9: 90,087,222 (GRCm39) |
I919N |
probably damaging |
Het |
| Tcea1 |
T |
C |
1: 4,963,659 (GRCm39) |
L233P |
probably damaging |
Het |
| Tlcd4 |
A |
G |
3: 121,028,884 (GRCm39) |
M1T |
probably null |
Het |
| Tmem231 |
T |
C |
8: 112,641,224 (GRCm39) |
T223A |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tomm34 |
A |
G |
2: 163,896,719 (GRCm39) |
Y243H |
probably benign |
Het |
| Tubgcp4 |
A |
T |
2: 121,025,907 (GRCm39) |
N584I |
probably benign |
Het |
| Vldlr |
T |
C |
19: 27,216,192 (GRCm39) |
C7R |
probably damaging |
Het |
| Vmn1r42 |
A |
T |
6: 89,822,533 (GRCm39) |
M12K |
probably benign |
Het |
| Vsig10 |
C |
T |
5: 117,490,881 (GRCm39) |
|
probably benign |
Het |
| Zfp974 |
C |
G |
7: 27,625,829 (GRCm39) |
V14L |
probably damaging |
Het |
|
| Other mutations in Slc36a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00950:Slc36a1
|
APN |
11 |
55,116,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01520:Slc36a1
|
APN |
11 |
55,110,482 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL01653:Slc36a1
|
APN |
11 |
55,119,147 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL02801:Slc36a1
|
APN |
11 |
55,116,879 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03093:Slc36a1
|
APN |
11 |
55,110,430 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL03183:Slc36a1
|
APN |
11 |
55,119,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4466001:Slc36a1
|
UTSW |
11 |
55,109,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0058:Slc36a1
|
UTSW |
11 |
55,112,820 (GRCm39) |
splice site |
probably benign |
|
|
R0058:Slc36a1
|
UTSW |
11 |
55,112,820 (GRCm39) |
splice site |
probably benign |
|
|
R0288:Slc36a1
|
UTSW |
11 |
55,109,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0411:Slc36a1
|
UTSW |
11 |
55,123,333 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0964:Slc36a1
|
UTSW |
11 |
55,116,780 (GRCm39) |
unclassified |
probably benign |
|
|
R1730:Slc36a1
|
UTSW |
11 |
55,114,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1748:Slc36a1
|
UTSW |
11 |
55,119,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1783:Slc36a1
|
UTSW |
11 |
55,114,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1826:Slc36a1
|
UTSW |
11 |
55,111,279 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2029:Slc36a1
|
UTSW |
11 |
55,119,164 (GRCm39) |
missense |
probably benign |
0.37 |
|
R2927:Slc36a1
|
UTSW |
11 |
55,123,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7033:Slc36a1
|
UTSW |
11 |
55,114,563 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7059:Slc36a1
|
UTSW |
11 |
55,114,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7583:Slc36a1
|
UTSW |
11 |
55,104,754 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8672:Slc36a1
|
UTSW |
11 |
55,123,334 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Z1176:Slc36a1
|
UTSW |
11 |
55,115,796 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGTGGAGAGCACAGATACTC -3'
(R):5'- TGTCAACACAGGCAAGGCAG -3'
Sequencing Primer
(F):5'- AAAACTCTGCACCGGTGG -3'
(R):5'- GCAAGGCAGGAGCTCTTTACAC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation