Incidental Mutation 'IGL02717:Slc7a4'
| ID |
304812 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc7a4
|
| Ensembl Gene |
ENSMUSG00000022756 |
| Gene Name |
solute carrier family 7 (cationic amino acid transporter, y+ system), member 4 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.472)
|
| Stock # |
IGL02717
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
17389882-17394619 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 17392439 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 332
(V332I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156166
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023441]
[ENSMUST00000063544]
[ENSMUST00000090165]
[ENSMUST00000168383]
[ENSMUST00000171002]
[ENSMUST00000172164]
[ENSMUST00000232226]
[ENSMUST00000232385]
[ENSMUST00000231615]
[ENSMUST00000231645]
[ENSMUST00000231806]
[ENSMUST00000231283]
[ENSMUST00000231552]
[ENSMUST00000232336]
[ENSMUST00000232186]
|
| AlphaFold |
Q8BLQ7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023441
|
| SMART Domains |
Protein: ENSMUSP00000023441
Gene: ENSMUSG00000022758
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
18 |
N/A |
INTRINSIC |
|
Pfam:P2X_receptor
|
25 |
385 |
7.9e-139 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000063544
AA Change: V332I
PolyPhen 2
Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000067243
Gene: ENSMUSG00000022756
AA Change: V332I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AA_permease_2
|
37 |
436 |
1.4e-49 |
PFAM |
|
Pfam:AA_permease
|
41 |
426 |
9.4e-38 |
PFAM |
|
transmembrane domain
|
476 |
498 |
N/A |
INTRINSIC |
|
transmembrane domain
|
508 |
530 |
N/A |
INTRINSIC |
|
Pfam:AA_permease_C
|
540 |
590 |
1.4e-23 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090165
AA Change: V332I
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000087627
Gene: ENSMUSG00000022756
AA Change: V332I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AA_permease_2
|
37 |
368 |
1.2e-42 |
PFAM |
|
Pfam:AA_permease
|
41 |
370 |
2.7e-34 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000116648
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168383
|
| SMART Domains |
Protein: ENSMUSP00000130079
Gene: ENSMUSG00000022758
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
18 |
N/A |
INTRINSIC |
|
Pfam:P2X_receptor
|
25 |
266 |
4.2e-95 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171002
|
| SMART Domains |
Protein: ENSMUSP00000132727
Gene: ENSMUSG00000022758
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
18 |
N/A |
INTRINSIC |
|
Pfam:P2X_receptor
|
25 |
197 |
1e-65 |
PFAM |
|
Pfam:P2X_receptor
|
185 |
362 |
7e-63 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000172164
AA Change: V332I
PolyPhen 2
Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000127280
Gene: ENSMUSG00000022756
AA Change: V332I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AA_permease_2
|
37 |
498 |
2.6e-46 |
PFAM |
|
Pfam:AA_permease
|
41 |
423 |
4.5e-36 |
PFAM |
|
transmembrane domain
|
508 |
530 |
N/A |
INTRINSIC |
|
Pfam:AA_permease_C
|
540 |
590 |
1.5e-23 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000232226
AA Change: V332I
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000232385
AA Change: V127I
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000231615
AA Change: V127I
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231645
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231806
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231283
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231552
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232429
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232336
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232186
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd4 |
G |
A |
14: 54,499,079 (GRCm39) |
|
probably benign |
Het |
| Adgra1 |
A |
T |
7: 139,456,094 (GRCm39) |
N574I |
probably damaging |
Het |
| Agbl2 |
C |
T |
2: 90,636,212 (GRCm39) |
R583W |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,979,751 (GRCm39) |
D345G |
probably benign |
Het |
| Alpk1 |
T |
A |
3: 127,474,749 (GRCm39) |
H418L |
possibly damaging |
Het |
| B4gat1 |
C |
A |
19: 5,088,997 (GRCm39) |
|
probably benign |
Het |
| Cdh18 |
A |
T |
15: 23,410,801 (GRCm39) |
R429* |
probably null |
Het |
| Chd1l |
T |
C |
3: 97,491,223 (GRCm39) |
N423S |
probably damaging |
Het |
| Eef1a2 |
A |
C |
2: 180,794,694 (GRCm39) |
D168E |
probably benign |
Het |
| Eif4g2 |
A |
G |
7: 110,677,320 (GRCm39) |
I205T |
probably benign |
Het |
| Fam227b |
T |
C |
2: 125,845,763 (GRCm39) |
I409V |
probably null |
Het |
| Fsip2 |
A |
G |
2: 82,781,370 (GRCm39) |
|
probably benign |
Het |
| Hadh |
T |
C |
3: 131,043,559 (GRCm39) |
T52A |
probably benign |
Het |
| Herc1 |
T |
A |
9: 66,279,203 (GRCm39) |
L37* |
probably null |
Het |
| Hoxc4 |
A |
G |
15: 102,943,273 (GRCm39) |
E42G |
possibly damaging |
Het |
| Ifna16 |
T |
C |
4: 88,594,777 (GRCm39) |
D106G |
possibly damaging |
Het |
| Iqgap3 |
C |
A |
3: 88,005,666 (GRCm39) |
T498K |
probably benign |
Het |
| Kmt2b |
G |
A |
7: 30,282,869 (GRCm39) |
T1031M |
probably damaging |
Het |
| Or11j4 |
G |
T |
14: 50,631,104 (GRCm39) |
R297L |
probably damaging |
Het |
| Or5g23 |
A |
T |
2: 85,439,116 (GRCm39) |
I46N |
probably damaging |
Het |
| Pilrb1 |
G |
A |
5: 137,856,213 (GRCm39) |
|
probably benign |
Het |
| Polq |
T |
A |
16: 36,843,102 (GRCm39) |
V212E |
probably damaging |
Het |
| Ppp4r3b |
A |
G |
11: 29,123,315 (GRCm39) |
T4A |
probably benign |
Het |
| Saxo5 |
C |
T |
8: 3,536,970 (GRCm39) |
R439C |
probably damaging |
Het |
| Scn5a |
T |
A |
9: 119,358,076 (GRCm39) |
T722S |
probably benign |
Het |
| Taar7b |
T |
C |
10: 23,876,258 (GRCm39) |
I141T |
probably damaging |
Het |
| Wrn |
T |
C |
8: 33,833,601 (GRCm39) |
Y104C |
probably damaging |
Het |
|
| Other mutations in Slc7a4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0066:Slc7a4
|
UTSW |
16 |
17,391,875 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0066:Slc7a4
|
UTSW |
16 |
17,391,875 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0402:Slc7a4
|
UTSW |
16 |
17,393,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1426:Slc7a4
|
UTSW |
16 |
17,391,808 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1926:Slc7a4
|
UTSW |
16 |
17,393,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2097:Slc7a4
|
UTSW |
16 |
17,391,319 (GRCm39) |
splice site |
probably null |
|
|
R2140:Slc7a4
|
UTSW |
16 |
17,392,408 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4496:Slc7a4
|
UTSW |
16 |
17,393,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4548:Slc7a4
|
UTSW |
16 |
17,393,209 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4570:Slc7a4
|
UTSW |
16 |
17,392,141 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4631:Slc7a4
|
UTSW |
16 |
17,392,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4658:Slc7a4
|
UTSW |
16 |
17,393,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4825:Slc7a4
|
UTSW |
16 |
17,392,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5102:Slc7a4
|
UTSW |
16 |
17,393,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5364:Slc7a4
|
UTSW |
16 |
17,391,227 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5650:Slc7a4
|
UTSW |
16 |
17,393,548 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5666:Slc7a4
|
UTSW |
16 |
17,393,815 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5944:Slc7a4
|
UTSW |
16 |
17,392,220 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6769:Slc7a4
|
UTSW |
16 |
17,393,184 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7381:Slc7a4
|
UTSW |
16 |
17,392,920 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7470:Slc7a4
|
UTSW |
16 |
17,392,977 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7903:Slc7a4
|
UTSW |
16 |
17,393,145 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7922:Slc7a4
|
UTSW |
16 |
17,391,230 (GRCm39) |
missense |
probably benign |
0.36 |
|
R8003:Slc7a4
|
UTSW |
16 |
17,392,315 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9300:Slc7a4
|
UTSW |
16 |
17,392,399 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9452:Slc7a4
|
UTSW |
16 |
17,391,271 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9569:Slc7a4
|
UTSW |
16 |
17,393,262 (GRCm39) |
missense |
|
|
|
R9674:Slc7a4
|
UTSW |
16 |
17,392,208 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation