Incidental Mutation 'R6140:Slc7a7'
| ID |
488549 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc7a7
|
| Ensembl Gene |
ENSMUSG00000000958 |
| Gene Name |
solute carrier family 7 (cationic amino acid transporter, y+ system), member 7 |
| Synonyms |
my+lat1 |
| MMRRC Submission |
044287-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6140 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
54606899-54655237 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 54616515 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 189
(T189I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154352
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000984]
[ENSMUST00000195970]
[ENSMUST00000197440]
[ENSMUST00000200545]
[ENSMUST00000226753]
[ENSMUST00000228488]
|
| AlphaFold |
Q9Z1K8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000000984
AA Change: T189I
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000000984
Gene: ENSMUSG00000000958
AA Change: T189I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AA_permease_2
|
38 |
463 |
2e-64 |
PFAM |
|
Pfam:AA_permease
|
43 |
463 |
6.3e-28 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000195970
AA Change: T189I
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000143091
Gene: ENSMUSG00000000958
AA Change: T189I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AA_permease_2
|
38 |
462 |
6.4e-66 |
PFAM |
|
Pfam:AA_permease
|
43 |
467 |
5.3e-31 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196966
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000197440
AA Change: T189I
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000143743
Gene: ENSMUSG00000000958
AA Change: T189I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AA_permease_2
|
38 |
463 |
2e-64 |
PFAM |
|
Pfam:AA_permease
|
43 |
463 |
6.3e-28 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197667
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200545
|
| SMART Domains |
Protein: ENSMUSP00000142587
Gene: ENSMUSG00000000958
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Trp_Tyr_perm
|
36 |
183 |
7.5e-5 |
PFAM |
|
Pfam:AA_permease_2
|
38 |
186 |
4.3e-19 |
PFAM |
|
Pfam:AA_permease
|
43 |
185 |
2.4e-6 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226753
AA Change: T189I
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228488
AA Change: T189I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.2%
- 10x: 96.9%
- 20x: 91.8%
|
| Validation Efficiency |
100% (46/46) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is the light subunit of a cationic amino acid transporter. This sodium-independent transporter is formed when the light subunit encoded by this gene dimerizes with the heavy subunit transporter protein SLC3A2. This transporter is found in epithelial cell membranes where it transfers cationic and large neutral amino acids from the cell to the extracellular space. Defects in this gene are a cause of lysinuric protein intolerance (LPI). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2011]
PHENOTYPE: Homozygous null mice exhibit fetal growth retardation and often die neonatally. After heavy protein ingestion, surviving adults show a metabolic derangement akin to lysinuric protein intolerance and including a lasting postnatal growth retardation, splenomegaly, hyperammonemia, and aminoaciduria. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410004P03Rik |
T |
C |
12: 17,055,923 (GRCm39) |
|
probably benign |
Het |
| Adgra2 |
A |
T |
8: 27,605,433 (GRCm39) |
R593W |
probably damaging |
Het |
| Agfg2 |
T |
C |
5: 137,665,347 (GRCm39) |
Q136R |
probably damaging |
Het |
| Ankrd42 |
T |
C |
7: 92,241,036 (GRCm39) |
|
probably null |
Het |
| Baz2b |
T |
C |
2: 59,742,871 (GRCm39) |
D1643G |
probably damaging |
Het |
| Ccdc171 |
C |
T |
4: 83,614,554 (GRCm39) |
Q1060* |
probably null |
Het |
| Cela1 |
C |
T |
15: 100,579,037 (GRCm39) |
R207H |
probably benign |
Het |
| Cfhr4 |
A |
G |
1: 139,660,133 (GRCm39) |
V664A |
probably damaging |
Het |
| Clic6 |
A |
G |
16: 92,336,380 (GRCm39) |
R563G |
probably damaging |
Het |
| Cspg4 |
A |
T |
9: 56,804,508 (GRCm39) |
H1773L |
probably benign |
Het |
| Ddrgk1 |
A |
G |
2: 130,500,534 (GRCm39) |
V204A |
probably benign |
Het |
| Dhrs7c |
A |
T |
11: 67,705,900 (GRCm39) |
T218S |
probably damaging |
Het |
| Dlgap4 |
A |
T |
2: 156,604,649 (GRCm39) |
|
probably null |
Het |
| Hgd |
A |
T |
16: 37,410,075 (GRCm39) |
Y37F |
probably benign |
Het |
| Hmcn1 |
A |
C |
1: 150,608,597 (GRCm39) |
N1528K |
probably damaging |
Het |
| Hps3 |
A |
G |
3: 20,051,151 (GRCm39) |
F843S |
probably damaging |
Het |
| Ifih1 |
A |
G |
2: 62,431,804 (GRCm39) |
F800S |
possibly damaging |
Het |
| Igsf21 |
T |
A |
4: 139,834,684 (GRCm39) |
T63S |
probably benign |
Het |
| Il18rap |
T |
G |
1: 40,564,212 (GRCm39) |
M110R |
probably benign |
Het |
| Kcnk2 |
G |
T |
1: 188,942,104 (GRCm39) |
H384Q |
probably damaging |
Het |
| Lima1 |
C |
T |
15: 99,678,939 (GRCm39) |
V341M |
probably damaging |
Het |
| Lins1 |
T |
C |
7: 66,361,672 (GRCm39) |
L441P |
probably damaging |
Het |
| Lss |
T |
C |
10: 76,386,522 (GRCm39) |
Y642H |
probably damaging |
Het |
| Mrc2 |
A |
G |
11: 105,237,615 (GRCm39) |
T1098A |
probably benign |
Het |
| Nf1 |
T |
A |
11: 79,364,146 (GRCm39) |
|
probably null |
Het |
| Nrdc |
G |
T |
4: 108,906,308 (GRCm39) |
A730S |
probably damaging |
Het |
| Nup214 |
C |
T |
2: 31,941,808 (GRCm39) |
T72I |
possibly damaging |
Het |
| Or6c213 |
T |
G |
10: 129,574,523 (GRCm39) |
K88Q |
possibly damaging |
Het |
| Or8g33 |
A |
G |
9: 39,337,543 (GRCm39) |
S275P |
possibly damaging |
Het |
| Or8k35 |
A |
T |
2: 86,424,448 (GRCm39) |
C241* |
probably null |
Het |
| Oxt |
A |
G |
2: 130,418,191 (GRCm39) |
Y21C |
probably damaging |
Het |
| Pla2g12b |
G |
A |
10: 59,257,263 (GRCm39) |
|
probably benign |
Het |
| Ralgapb |
T |
C |
2: 158,298,492 (GRCm39) |
V907A |
probably damaging |
Het |
| Rnls |
A |
T |
19: 33,115,600 (GRCm39) |
D157E |
probably damaging |
Het |
| Slc7a14 |
C |
A |
3: 31,291,697 (GRCm39) |
V194L |
probably benign |
Het |
| Snupn |
C |
A |
9: 56,890,108 (GRCm39) |
Q310K |
possibly damaging |
Het |
| Ssh1 |
A |
G |
5: 114,080,692 (GRCm39) |
Y891H |
probably benign |
Het |
| Suclg2 |
T |
C |
6: 95,546,702 (GRCm39) |
D258G |
probably damaging |
Het |
| Tpk1 |
A |
T |
6: 43,400,635 (GRCm39) |
M129K |
probably benign |
Het |
| Ubr3 |
A |
G |
2: 69,803,673 (GRCm39) |
I1088V |
probably benign |
Het |
| Vmn1r3 |
A |
G |
4: 3,185,031 (GRCm39) |
I92T |
probably damaging |
Het |
| Vmn2r69 |
G |
A |
7: 85,060,657 (GRCm39) |
S309F |
probably damaging |
Het |
| Wsb1 |
A |
T |
11: 79,132,444 (GRCm39) |
H325Q |
probably damaging |
Het |
| Zfp263 |
A |
G |
16: 3,566,081 (GRCm39) |
S281G |
probably benign |
Het |
| Zfp507 |
A |
G |
7: 35,493,613 (GRCm39) |
S477P |
probably damaging |
Het |
|
| Other mutations in Slc7a7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0200:Slc7a7
|
UTSW |
14 |
54,615,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0331:Slc7a7
|
UTSW |
14 |
54,615,381 (GRCm39) |
unclassified |
probably benign |
|
|
R0608:Slc7a7
|
UTSW |
14 |
54,615,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1311:Slc7a7
|
UTSW |
14 |
54,610,487 (GRCm39) |
nonsense |
probably null |
|
|
R1489:Slc7a7
|
UTSW |
14 |
54,646,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1490:Slc7a7
|
UTSW |
14 |
54,646,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4049:Slc7a7
|
UTSW |
14 |
54,610,548 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4731:Slc7a7
|
UTSW |
14 |
54,646,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4732:Slc7a7
|
UTSW |
14 |
54,646,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4733:Slc7a7
|
UTSW |
14 |
54,646,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5562:Slc7a7
|
UTSW |
14 |
54,646,269 (GRCm39) |
missense |
probably benign |
|
|
R5745:Slc7a7
|
UTSW |
14 |
54,615,292 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5907:Slc7a7
|
UTSW |
14 |
54,616,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6366:Slc7a7
|
UTSW |
14 |
54,612,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6696:Slc7a7
|
UTSW |
14 |
54,615,218 (GRCm39) |
splice site |
probably null |
|
|
R6776:Slc7a7
|
UTSW |
14 |
54,612,108 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7310:Slc7a7
|
UTSW |
14 |
54,616,482 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7399:Slc7a7
|
UTSW |
14 |
54,611,725 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7903:Slc7a7
|
UTSW |
14 |
54,611,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8679:Slc7a7
|
UTSW |
14 |
54,610,449 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8888:Slc7a7
|
UTSW |
14 |
54,607,293 (GRCm39) |
missense |
probably benign |
|
|
R8895:Slc7a7
|
UTSW |
14 |
54,607,293 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTATACCCGGTGAAGGTGTAGATC -3'
(R):5'- TCGGGGTCCAAACACATAGC -3'
Sequencing Primer
(F):5'- TGTAGATCTGAGACACACCGCTTG -3'
(R):5'- ATAGCTGACTCCCCATGATGG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation