Incidental Mutation 'R4682:Slc36a4'
| ID |
350083 |
| 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 |
041934-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R4682 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
15621034-15653684 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 15638144 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Stop codon
at position 190
(S190*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111251
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061568]
[ENSMUST00000115588]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000061568
AA Change: S190*
|
| SMART Domains |
Protein: ENSMUSP00000057355
Gene: ENSMUSG00000043885
AA Change: S190*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
54 |
470 |
4.5e-82 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000115588
AA Change: S190*
|
| SMART Domains |
Protein: ENSMUSP00000111251
Gene: ENSMUSG00000043885
AA Change: S190*
| 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 |
0.9645 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
94% (45/48) |
| 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 |
|---|
| Anapc1 |
A |
G |
2: 128,505,925 (GRCm39) |
V637A |
probably benign |
Het |
| Aurkc |
G |
A |
7: 6,998,538 (GRCm39) |
V33M |
probably null |
Het |
| Crybg2 |
CTTCCAGAGCCATGGACCCATCTTTTCCA |
CTTCCA |
4: 133,800,029 (GRCm39) |
|
probably null |
Het |
| Dapk1 |
T |
A |
13: 60,898,961 (GRCm39) |
S810R |
probably benign |
Het |
| Dpm2 |
C |
T |
2: 32,462,290 (GRCm39) |
|
probably benign |
Het |
| Fgb |
A |
T |
3: 82,950,572 (GRCm39) |
F394Y |
probably benign |
Het |
| Fry |
A |
G |
5: 150,346,219 (GRCm39) |
Y1576C |
probably damaging |
Het |
| Gabra4 |
T |
C |
5: 71,815,152 (GRCm39) |
M1V |
probably null |
Het |
| Grhl1 |
T |
G |
12: 24,658,432 (GRCm39) |
V359G |
probably benign |
Het |
| Hdac5 |
T |
C |
11: 102,097,456 (GRCm39) |
S158G |
probably null |
Het |
| Hdgfl1 |
T |
C |
13: 26,953,230 (GRCm39) |
E281G |
possibly damaging |
Het |
| Igfn1 |
T |
C |
1: 135,926,363 (GRCm39) |
E29G |
probably benign |
Het |
| Inpp1 |
T |
C |
1: 52,833,760 (GRCm39) |
N112S |
probably benign |
Het |
| Itih1 |
C |
A |
14: 30,659,800 (GRCm39) |
A279S |
probably damaging |
Het |
| Mad1l1 |
A |
T |
5: 140,286,007 (GRCm39) |
M296K |
possibly damaging |
Het |
| Mark4 |
T |
C |
7: 19,179,097 (GRCm39) |
|
probably null |
Het |
| Mrpl48 |
T |
A |
7: 100,198,576 (GRCm39) |
D192V |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,560,856 (GRCm39) |
R770* |
probably null |
Het |
| Nckap5 |
A |
T |
1: 126,030,279 (GRCm39) |
|
probably null |
Het |
| Nlrp4d |
T |
C |
7: 10,108,879 (GRCm39) |
T731A |
noncoding transcript |
Het |
| Or4d6 |
T |
C |
19: 12,086,049 (GRCm39) |
Y287C |
probably damaging |
Het |
| Pcyt1b |
C |
A |
X: 92,789,970 (GRCm39) |
P318H |
probably damaging |
Het |
| Plekhm3 |
T |
C |
1: 64,977,086 (GRCm39) |
D128G |
possibly damaging |
Het |
| Ppp1r9a |
A |
G |
6: 4,905,477 (GRCm39) |
T11A |
possibly damaging |
Het |
| Rlig1 |
T |
C |
10: 100,414,243 (GRCm39) |
I139V |
probably benign |
Het |
| Rnf138 |
T |
A |
18: 21,143,791 (GRCm39) |
Y112N |
probably damaging |
Het |
| Scn9a |
A |
T |
2: 66,377,362 (GRCm39) |
V442E |
probably benign |
Het |
| Slc46a1 |
A |
G |
11: 78,359,502 (GRCm39) |
K378R |
possibly damaging |
Het |
| Snai2 |
T |
C |
16: 14,526,150 (GRCm39) |
V267A |
probably benign |
Het |
| Srrm2 |
T |
A |
17: 24,034,666 (GRCm39) |
S533T |
probably benign |
Het |
| St6galnac4 |
T |
A |
2: 32,484,111 (GRCm39) |
M103K |
probably damaging |
Het |
| Tap2 |
C |
A |
17: 34,433,006 (GRCm39) |
Y429* |
probably null |
Het |
| Traf7 |
T |
C |
17: 24,732,348 (GRCm39) |
K159E |
probably damaging |
Het |
| Zfp111 |
T |
G |
7: 23,898,563 (GRCm39) |
K349N |
probably damaging |
Het |
| Zfp462 |
A |
G |
4: 55,011,376 (GRCm39) |
Y1114C |
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 |
|
|
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'- TGAGACACTGAGAGATGCCCTC -3'
(R):5'- AATTATCACAAGACTGGCAGCC -3'
Sequencing Primer
(F):5'- CTGTCACAGTGAGACATTGAGTG -3'
(R):5'- CTGGCAGCCATGGAAATGTTG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation