Incidental Mutation 'R6651:Slc36a4'
| ID |
527793 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc36a4
|
| Ensembl Gene |
ENSMUSG00000043885 |
| Gene Name |
solute carrier family 36 (proton/amino acid symporter), member 4 |
| Synonyms |
6330573I15Rik, PAT4 |
| MMRRC Submission |
044772-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R6651 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
15621034-15653684 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 15634874 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 139
(S139G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057355
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061568]
[ENSMUST00000115588]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061568
AA Change: S139G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000057355
Gene: ENSMUSG00000043885
AA Change: S139G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
54 |
470 |
4.5e-82 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115588
AA Change: S139G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000111251
Gene: ENSMUSG00000043885
AA Change: S139G
| 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 |
probably benign
Transcript: ENSMUST00000214954
|
| Meta Mutation Damage Score |
0.0623 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.7%
|
| Validation Efficiency |
98% (50/51) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406B18Rik |
A |
C |
7: 43,147,496 (GRCm39) |
S198A |
possibly damaging |
Het |
| Adamts15 |
A |
T |
9: 30,833,448 (GRCm39) |
I29N |
probably damaging |
Het |
| Ankrd61 |
A |
T |
5: 143,830,438 (GRCm39) |
I33N |
probably damaging |
Het |
| Arl6ip1 |
C |
T |
7: 117,728,708 (GRCm39) |
R7H |
probably benign |
Het |
| Atp8a2 |
A |
T |
14: 60,011,470 (GRCm39) |
D946E |
probably benign |
Het |
| Cc2d2b |
A |
T |
19: 40,766,573 (GRCm39) |
Q114L |
probably damaging |
Het |
| Ccdc163 |
T |
A |
4: 116,566,261 (GRCm39) |
S16R |
possibly damaging |
Het |
| Chil6 |
C |
T |
3: 106,311,576 (GRCm39) |
C68Y |
probably damaging |
Het |
| Cngb3 |
G |
T |
4: 19,375,231 (GRCm39) |
R287L |
probably benign |
Het |
| Crem |
C |
T |
18: 3,325,428 (GRCm39) |
R16H |
probably benign |
Het |
| Cyp4f16 |
C |
T |
17: 32,763,118 (GRCm39) |
R188C |
probably benign |
Het |
| Dap |
A |
G |
15: 31,273,353 (GRCm39) |
D46G |
probably damaging |
Het |
| Dnah7c |
C |
A |
1: 46,688,500 (GRCm39) |
T1890K |
probably benign |
Het |
| Dnah7c |
A |
G |
1: 46,688,511 (GRCm39) |
S1894G |
probably benign |
Het |
| Enam |
T |
C |
5: 88,650,776 (GRCm39) |
Y687H |
probably damaging |
Het |
| Fzd4 |
A |
T |
7: 89,054,010 (GRCm39) |
D39V |
possibly damaging |
Het |
| Ggta1 |
G |
T |
2: 35,292,306 (GRCm39) |
H334N |
probably benign |
Het |
| Golga3 |
C |
T |
5: 110,365,996 (GRCm39) |
R1254* |
probably null |
Het |
| Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
| Helz2 |
C |
T |
2: 180,881,350 (GRCm39) |
W377* |
probably null |
Het |
| Hfm1 |
T |
C |
5: 106,995,553 (GRCm39) |
D1286G |
probably benign |
Het |
| Hhatl |
T |
C |
9: 121,613,768 (GRCm39) |
R425G |
probably damaging |
Het |
| Hivep3 |
G |
A |
4: 119,980,146 (GRCm39) |
R1728H |
probably damaging |
Het |
| Hyal1 |
A |
G |
9: 107,456,570 (GRCm39) |
Y419C |
probably damaging |
Het |
| Ighv8-12 |
A |
T |
12: 115,611,644 (GRCm39) |
D84E |
possibly damaging |
Het |
| Itln1 |
A |
G |
1: 171,345,940 (GRCm39) |
F271L |
possibly damaging |
Het |
| Klra7 |
C |
A |
6: 130,206,908 (GRCm39) |
L64F |
probably benign |
Het |
| Kmt2a |
A |
T |
9: 44,740,108 (GRCm39) |
C1878* |
probably null |
Het |
| Mia2 |
C |
A |
12: 59,201,148 (GRCm39) |
Q825K |
possibly damaging |
Het |
| Mmp12 |
C |
A |
9: 7,355,345 (GRCm39) |
P294Q |
possibly damaging |
Het |
| Nedd4 |
A |
G |
9: 72,638,553 (GRCm39) |
N480S |
possibly damaging |
Het |
| Or4c12b |
A |
T |
2: 89,647,240 (GRCm39) |
E190V |
probably benign |
Het |
| Or4e5 |
C |
T |
14: 52,728,250 (GRCm39) |
R57Q |
probably benign |
Het |
| Pax6 |
T |
A |
2: 105,516,175 (GRCm39) |
M151K |
probably benign |
Het |
| Pgm2 |
A |
G |
5: 64,269,437 (GRCm39) |
Y508C |
probably benign |
Het |
| Ptpn20 |
T |
C |
14: 33,354,897 (GRCm39) |
F324S |
probably damaging |
Het |
| Recql |
A |
G |
6: 142,310,160 (GRCm39) |
|
probably null |
Het |
| Rerg |
A |
G |
6: 137,033,384 (GRCm39) |
V97A |
probably damaging |
Het |
| Rffl |
C |
A |
11: 82,703,605 (GRCm39) |
C106F |
probably damaging |
Het |
| Scaper |
T |
G |
9: 55,765,788 (GRCm39) |
N499T |
probably benign |
Het |
| Sfxn3 |
G |
A |
19: 45,038,354 (GRCm39) |
|
probably null |
Het |
| Slco2b1 |
T |
A |
7: 99,316,376 (GRCm39) |
M385L |
probably benign |
Het |
| Smg8 |
T |
C |
11: 86,977,372 (GRCm39) |
T70A |
probably benign |
Het |
| Spats2l |
A |
T |
1: 57,985,336 (GRCm39) |
K463M |
probably damaging |
Het |
| Thbs4 |
T |
C |
13: 92,893,044 (GRCm39) |
I715V |
probably benign |
Het |
| Tmem234 |
T |
A |
4: 129,501,264 (GRCm39) |
M113K |
possibly damaging |
Het |
| Vmn2r10 |
T |
C |
5: 109,143,488 (GRCm39) |
I821V |
probably null |
Het |
| Vmn2r116 |
A |
T |
17: 23,607,805 (GRCm39) |
K458* |
probably null |
Het |
| Vmn2r76 |
T |
A |
7: 85,878,059 (GRCm39) |
N446I |
possibly damaging |
Het |
| Vmn2r95 |
T |
A |
17: 18,660,622 (GRCm39) |
Y345N |
probably damaging |
Het |
|
| Other mutations in Slc36a4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02631:Slc36a4
|
APN |
9 |
15,638,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCACCTTGATAACAGATCTGC -3'
(R):5'- TCAGACTGCCTGACTGACTTATG -3'
Sequencing Primer
(F):5'- CACCTTGATAACAGATCTGCTGGTG -3'
(R):5'- AGACTGCCTGACTGACTTATGAATCC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation