Incidental Mutation 'R1112:Slc36a4'
ID |
96841 |
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 |
039185-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.056)
|
Stock # |
R1112 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
15621034-15653684 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 15634811 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 118
(F118I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000057355
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061568]
[ENSMUST00000115588]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061568
AA Change: F118I
PolyPhen 2
Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000057355 Gene: ENSMUSG00000043885 AA Change: F118I
Domain | Start | End | E-Value | Type |
Pfam:Aa_trans
|
54 |
470 |
4.5e-82 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115588
AA Change: F118I
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000111251 Gene: ENSMUSG00000043885 AA Change: F118I
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
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ak7 |
A |
G |
12: 105,679,831 (GRCm39) |
N122D |
probably benign |
Het |
Arb2a |
A |
G |
13: 77,910,005 (GRCm39) |
Y40C |
probably damaging |
Het |
Atrn |
A |
G |
2: 130,841,081 (GRCm39) |
D1161G |
probably benign |
Het |
Bscl2 |
G |
C |
19: 8,817,098 (GRCm39) |
G9R |
possibly damaging |
Het |
Clstn2 |
T |
C |
9: 97,340,281 (GRCm39) |
N697S |
possibly damaging |
Het |
Ctnnd2 |
T |
C |
15: 30,922,026 (GRCm39) |
V884A |
probably damaging |
Het |
Dusp10 |
A |
T |
1: 183,769,097 (GRCm39) |
Q21L |
probably damaging |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Foxn1 |
A |
G |
11: 78,261,856 (GRCm39) |
F171S |
probably benign |
Het |
Fxr2 |
A |
G |
11: 69,543,074 (GRCm39) |
S624G |
probably damaging |
Het |
Gorasp2 |
C |
A |
2: 70,521,158 (GRCm39) |
P376Q |
probably benign |
Het |
Gpr33 |
A |
G |
12: 52,070,155 (GRCm39) |
S295P |
probably damaging |
Het |
Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
Hap1 |
C |
T |
11: 100,245,143 (GRCm39) |
V23M |
probably damaging |
Het |
Hsd3b5 |
C |
T |
3: 98,537,393 (GRCm39) |
R41Q |
probably benign |
Het |
Kif1c |
T |
G |
11: 70,615,641 (GRCm39) |
|
probably null |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Madd |
A |
G |
2: 90,973,944 (GRCm39) |
C1447R |
probably damaging |
Het |
Myef2 |
A |
C |
2: 124,939,506 (GRCm39) |
M426R |
probably damaging |
Het |
Myh13 |
A |
T |
11: 67,245,576 (GRCm39) |
D1072V |
probably damaging |
Het |
Or1e34 |
A |
C |
11: 73,779,060 (GRCm39) |
L46R |
probably damaging |
Het |
Or51a5 |
C |
T |
7: 102,771,611 (GRCm39) |
D123N |
probably damaging |
Het |
Orc4 |
A |
T |
2: 48,823,584 (GRCm39) |
N90K |
probably damaging |
Het |
Padi4 |
C |
T |
4: 140,485,427 (GRCm39) |
S246N |
probably benign |
Het |
Pcdhb22 |
A |
T |
18: 37,652,821 (GRCm39) |
T430S |
possibly damaging |
Het |
Prkd3 |
T |
C |
17: 79,273,837 (GRCm39) |
D473G |
probably damaging |
Het |
Scn4a |
T |
C |
11: 106,211,292 (GRCm39) |
Y1575C |
probably damaging |
Het |
Serpinb6d |
A |
G |
13: 33,853,118 (GRCm39) |
Y170C |
probably damaging |
Het |
Slc12a2 |
A |
T |
18: 58,070,824 (GRCm39) |
I1059L |
probably benign |
Het |
Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
Srpra |
A |
G |
9: 35,126,255 (GRCm39) |
T483A |
probably benign |
Het |
Sycp2 |
A |
T |
2: 177,994,329 (GRCm39) |
D1198E |
probably benign |
Het |
Ubash3b |
T |
C |
9: 40,939,412 (GRCm39) |
N287D |
probably damaging |
Het |
Uggt1 |
T |
C |
1: 36,212,627 (GRCm39) |
D905G |
possibly damaging |
Het |
Zfp692 |
T |
C |
11: 58,202,388 (GRCm39) |
L381P |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTTGCACGCCTATGACAGGCAC -3'
(R):5'- TTGCAGCAAGGACAGAGCACAC -3'
Sequencing Primer
(F):5'- GCCTATGACAGGCACTGATAATTTG -3'
(R):5'- AGACTGCCTGACTGACTTATG -3'
|
Posted On |
2014-01-05 |