Incidental Mutation 'IGL02631:Slc36a4'
| ID |
301299 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc36a4
|
| Ensembl Gene |
ENSMUSG00000043885 |
| Gene Name |
solute carrier family 36 (proton/amino acid symporter), member 4 |
| Synonyms |
6330573I15Rik, PAT4 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
IGL02631
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
15621034-15653684 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 15638237 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 221
(V221A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057355
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061568]
[ENSMUST00000115588]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061568
AA Change: V221A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000057355
Gene: ENSMUSG00000043885
AA Change: V221A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
54 |
470 |
4.5e-82 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115588
AA Change: V221A
PolyPhen 2
Score 0.393 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000111251
Gene: ENSMUSG00000043885
AA Change: V221A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
54 |
401 |
2e-66 |
PFAM |
|
Pfam:AA_permease_2
|
56 |
371 |
3.7e-9 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000214954
AA Change: V18A
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC36A4 belongs to the SLC36 family of amino acid transporters based on sequence similarity with other family members (e.g., SLC36A1; MIM 606561). SLC36 proteins contain about 500 amino acids and have 9 to 11 transmembrane domains. Unlike other SLC36 family members, which are proton-coupled amino acid transporters, SLC36A4 is a high-affinity/low-capacity non-proton-coupled amino acid transporter (Pillai and Meredith, 2011 [PubMed 21097500]).[supplied by OMIM, Feb 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp2b2 |
A |
G |
6: 113,725,506 (GRCm39) |
S1242P |
probably damaging |
Het |
| Bglap |
A |
T |
3: 88,290,987 (GRCm39) |
Y81* |
probably null |
Het |
| Ccdc83 |
T |
C |
7: 89,893,277 (GRCm39) |
D160G |
possibly damaging |
Het |
| Cep97 |
A |
T |
16: 55,742,541 (GRCm39) |
C135* |
probably null |
Het |
| Cog1 |
C |
T |
11: 113,547,304 (GRCm39) |
Q633* |
probably null |
Het |
| Cyp4f40 |
A |
T |
17: 32,894,609 (GRCm39) |
|
probably benign |
Het |
| Dennd2c |
T |
A |
3: 103,063,387 (GRCm39) |
M608K |
possibly damaging |
Het |
| Enpp1 |
A |
G |
10: 24,517,859 (GRCm39) |
S855P |
probably damaging |
Het |
| Eprs1 |
T |
C |
1: 185,160,095 (GRCm39) |
I1457T |
probably damaging |
Het |
| Fam149b |
G |
A |
14: 20,425,614 (GRCm39) |
V300M |
probably damaging |
Het |
| Fcgbp |
T |
A |
7: 27,784,723 (GRCm39) |
L261Q |
probably damaging |
Het |
| Flt1 |
G |
T |
5: 147,610,384 (GRCm39) |
S413* |
probably null |
Het |
| Flt3 |
T |
G |
5: 147,281,362 (GRCm39) |
D790A |
probably damaging |
Het |
| Gpat2 |
A |
G |
2: 127,276,152 (GRCm39) |
|
probably benign |
Het |
| Gpr151 |
T |
C |
18: 42,711,835 (GRCm39) |
K281R |
probably benign |
Het |
| Hoxa5 |
G |
A |
6: 52,180,790 (GRCm39) |
R181C |
probably damaging |
Het |
| Irx4 |
C |
T |
13: 73,416,596 (GRCm39) |
R331W |
probably damaging |
Het |
| Lmo2 |
T |
C |
2: 103,811,432 (GRCm39) |
I155T |
probably benign |
Het |
| Nbeal2 |
G |
A |
9: 110,459,276 (GRCm39) |
R1944C |
probably damaging |
Het |
| Obp2b |
A |
G |
2: 25,629,255 (GRCm39) |
N141S |
probably damaging |
Het |
| Or4c10b |
T |
A |
2: 89,711,599 (GRCm39) |
V143E |
possibly damaging |
Het |
| Or4c3d |
T |
A |
2: 89,881,786 (GRCm39) |
N294I |
probably damaging |
Het |
| Papss2 |
T |
A |
19: 32,611,404 (GRCm39) |
|
probably benign |
Het |
| Rapgef2 |
A |
T |
3: 78,990,533 (GRCm39) |
M915K |
possibly damaging |
Het |
| Raver2 |
A |
C |
4: 100,953,499 (GRCm39) |
D89A |
probably damaging |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Setd2 |
A |
G |
9: 110,379,644 (GRCm39) |
D1153G |
possibly damaging |
Het |
| Slc25a12 |
C |
T |
2: 71,127,086 (GRCm39) |
G365E |
possibly damaging |
Het |
| Slc35e4 |
A |
C |
11: 3,857,729 (GRCm39) |
V292G |
probably damaging |
Het |
| Slc7a14 |
C |
A |
3: 31,292,827 (GRCm39) |
A153S |
probably damaging |
Het |
| Smc1b |
T |
C |
15: 84,991,204 (GRCm39) |
D658G |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Tab3 |
A |
G |
X: 84,658,139 (GRCm39) |
N222S |
probably benign |
Het |
| Tdrd6 |
T |
A |
17: 43,937,110 (GRCm39) |
T1313S |
probably damaging |
Het |
| Tnfrsf1b |
A |
T |
4: 144,951,398 (GRCm39) |
C181S |
probably damaging |
Het |
| Trdn |
A |
T |
10: 33,239,972 (GRCm39) |
|
probably null |
Het |
| Trip12 |
A |
T |
1: 84,743,729 (GRCm39) |
V526E |
possibly damaging |
Het |
| Trps1 |
T |
C |
15: 50,709,417 (GRCm39) |
D311G |
probably damaging |
Het |
| Ttf1 |
A |
G |
2: 28,959,912 (GRCm39) |
I507V |
probably damaging |
Het |
| Unc80 |
A |
C |
1: 66,569,222 (GRCm39) |
D959A |
probably damaging |
Het |
| Unc93b1 |
T |
C |
19: 3,992,026 (GRCm39) |
|
probably benign |
Het |
| Utrn |
A |
G |
10: 12,585,807 (GRCm39) |
F990S |
probably benign |
Het |
| V1rd19 |
T |
C |
7: 23,702,825 (GRCm39) |
L97P |
probably damaging |
Het |
|
| Other mutations in Slc36a4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03235:Slc36a4
|
APN |
9 |
15,634,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0418:Slc36a4
|
UTSW |
9 |
15,645,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1112:Slc36a4
|
UTSW |
9 |
15,634,811 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R1219:Slc36a4
|
UTSW |
9 |
15,634,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1858:Slc36a4
|
UTSW |
9 |
15,632,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1934:Slc36a4
|
UTSW |
9 |
15,632,085 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1975:Slc36a4
|
UTSW |
9 |
15,645,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1976:Slc36a4
|
UTSW |
9 |
15,645,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1977:Slc36a4
|
UTSW |
9 |
15,645,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2069:Slc36a4
|
UTSW |
9 |
15,638,276 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3735:Slc36a4
|
UTSW |
9 |
15,649,569 (GRCm39) |
nonsense |
probably null |
|
|
R4682:Slc36a4
|
UTSW |
9 |
15,638,144 (GRCm39) |
nonsense |
probably null |
|
|
R5244:Slc36a4
|
UTSW |
9 |
15,645,574 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5268:Slc36a4
|
UTSW |
9 |
15,638,212 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R5641:Slc36a4
|
UTSW |
9 |
15,640,098 (GRCm39) |
splice site |
probably null |
|
|
R5888:Slc36a4
|
UTSW |
9 |
15,638,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6194:Slc36a4
|
UTSW |
9 |
15,638,172 (GRCm39) |
nonsense |
probably null |
|
|
R6651:Slc36a4
|
UTSW |
9 |
15,634,874 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7023:Slc36a4
|
UTSW |
9 |
15,630,929 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7114:Slc36a4
|
UTSW |
9 |
15,633,250 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7263:Slc36a4
|
UTSW |
9 |
15,633,452 (GRCm39) |
splice site |
probably null |
|
|
R7538:Slc36a4
|
UTSW |
9 |
15,645,511 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7564:Slc36a4
|
UTSW |
9 |
15,638,108 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7757:Slc36a4
|
UTSW |
9 |
15,630,956 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R8731:Slc36a4
|
UTSW |
9 |
15,631,048 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8742:Slc36a4
|
UTSW |
9 |
15,632,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9352:Slc36a4
|
UTSW |
9 |
15,633,319 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9385:Slc36a4
|
UTSW |
9 |
15,645,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0018:Slc36a4
|
UTSW |
9 |
15,645,508 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
Z1177:Slc36a4
|
UTSW |
9 |
15,632,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Slc36a4
|
UTSW |
9 |
15,630,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation