Incidental Mutation 'R8003:Slc7a4'
| ID |
616478 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc7a4
|
| Ensembl Gene |
ENSMUSG00000022756 |
| Gene Name |
solute carrier family 7 (cationic amino acid transporter, y+ system), member 4 |
| Synonyms |
|
| MMRRC Submission |
046043-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.472)
|
| Stock # |
R8003 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
17389882-17394619 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 17392315 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 373
(V373G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067243
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023441]
[ENSMUST00000063544]
[ENSMUST00000171002]
[ENSMUST00000172164]
[ENSMUST00000231283]
[ENSMUST00000231552]
[ENSMUST00000231615]
[ENSMUST00000231645]
[ENSMUST00000231806]
[ENSMUST00000232186]
[ENSMUST00000232226]
[ENSMUST00000232336]
[ENSMUST00000232385]
|
| 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: V373G
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000067243
Gene: ENSMUSG00000022756
AA Change: V373G
| 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 |
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: V373G
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000127280
Gene: ENSMUSG00000022756
AA Change: V373G
| 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 |
probably benign
Transcript: ENSMUST00000231283
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231552
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000231615
AA Change: V168G
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231645
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231806
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232186
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232226
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232336
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000232385
AA Change: V168G
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (51/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy4 |
A |
G |
14: 56,019,092 (GRCm39) |
V155A |
probably benign |
Het |
| Arfgef2 |
A |
G |
2: 166,695,208 (GRCm39) |
Y527C |
probably damaging |
Het |
| Brca1 |
C |
T |
11: 101,415,303 (GRCm39) |
G944R |
probably benign |
Het |
| C2cd2 |
A |
G |
16: 97,687,286 (GRCm39) |
|
probably null |
Het |
| Cass4 |
T |
C |
2: 172,269,879 (GRCm39) |
F654L |
unknown |
Het |
| Ccdc178 |
A |
T |
18: 21,977,944 (GRCm39) |
|
probably null |
Het |
| Cct4 |
T |
C |
11: 22,946,040 (GRCm39) |
|
probably null |
Het |
| Cish |
T |
C |
9: 107,174,227 (GRCm39) |
V5A |
possibly damaging |
Het |
| Col5a1 |
G |
A |
2: 27,848,340 (GRCm39) |
|
probably benign |
Het |
| Col6a3 |
G |
T |
1: 90,703,455 (GRCm39) |
N3037K |
unknown |
Het |
| Csmd2 |
T |
A |
4: 128,432,980 (GRCm39) |
C3012* |
probably null |
Het |
| Dclk2 |
T |
C |
3: 86,700,608 (GRCm39) |
|
probably null |
Het |
| Dhx38 |
A |
T |
8: 110,282,772 (GRCm39) |
D631E |
probably damaging |
Het |
| Eif2ak2 |
C |
A |
17: 79,183,652 (GRCm39) |
A66S |
probably damaging |
Het |
| Ephx2 |
A |
G |
14: 66,361,782 (GRCm39) |
|
probably null |
Het |
| Fbxw10 |
T |
G |
11: 62,748,587 (GRCm39) |
C405G |
possibly damaging |
Het |
| Galnt13 |
G |
T |
2: 54,950,497 (GRCm39) |
G393* |
probably null |
Het |
| Gm5591 |
G |
T |
7: 38,219,183 (GRCm39) |
H563Q |
probably damaging |
Het |
| Gtf3c5 |
A |
G |
2: 28,459,373 (GRCm39) |
I394T |
probably benign |
Het |
| Hectd4 |
G |
A |
5: 121,477,581 (GRCm39) |
A2835T |
possibly damaging |
Het |
| Herc2 |
A |
G |
7: 55,818,652 (GRCm39) |
D2781G |
possibly damaging |
Het |
| Kmt2b |
G |
T |
7: 30,268,802 (GRCm39) |
H2642Q |
probably damaging |
Het |
| Lars1 |
A |
T |
18: 42,354,684 (GRCm39) |
D754E |
probably damaging |
Het |
| Lrpprc |
A |
C |
17: 85,059,745 (GRCm39) |
S690A |
probably benign |
Het |
| Map3k6 |
A |
G |
4: 132,976,193 (GRCm39) |
T805A |
probably benign |
Het |
| Mthfd1l |
T |
G |
10: 3,934,147 (GRCm39) |
S160A |
probably benign |
Het |
| Mtmr6 |
G |
A |
14: 60,519,544 (GRCm39) |
|
probably null |
Het |
| Mybpc2 |
A |
T |
7: 44,158,488 (GRCm39) |
M698K |
probably damaging |
Het |
| Myh8 |
T |
A |
11: 67,190,586 (GRCm39) |
L1304M |
probably damaging |
Het |
| Mylip |
T |
A |
13: 45,557,947 (GRCm39) |
V117E |
probably benign |
Het |
| Npc1l1 |
T |
C |
11: 6,165,129 (GRCm39) |
Q1061R |
probably benign |
Het |
| Or12e13 |
A |
G |
2: 87,664,081 (GRCm39) |
R233G |
probably benign |
Het |
| Or5d37 |
A |
T |
2: 87,923,589 (GRCm39) |
Y230* |
probably null |
Het |
| Pkd2l2 |
G |
A |
18: 34,561,232 (GRCm39) |
M413I |
probably damaging |
Het |
| Plch2 |
C |
T |
4: 155,138,980 (GRCm39) |
G19D |
unknown |
Het |
| Pramel17 |
T |
C |
4: 101,693,130 (GRCm39) |
K290R |
probably benign |
Het |
| Psg22 |
A |
C |
7: 18,458,350 (GRCm39) |
Y347S |
probably damaging |
Het |
| Ptpre |
C |
A |
7: 135,270,765 (GRCm39) |
Q314K |
probably damaging |
Het |
| Rgs6 |
T |
C |
12: 83,032,144 (GRCm39) |
S54P |
probably damaging |
Het |
| Sbds |
C |
A |
5: 130,279,726 (GRCm39) |
V130F |
possibly damaging |
Het |
| Slc1a7 |
G |
A |
4: 107,869,473 (GRCm39) |
V513M |
probably benign |
Het |
| Slc24a2 |
A |
T |
4: 87,094,552 (GRCm39) |
D322E |
probably benign |
Het |
| Slc45a4 |
G |
T |
15: 73,457,162 (GRCm39) |
Y585* |
probably null |
Het |
| Sulf1 |
G |
A |
1: 12,908,825 (GRCm39) |
V613M |
probably damaging |
Het |
| Syt1 |
T |
C |
10: 108,472,434 (GRCm39) |
D150G |
probably damaging |
Het |
| Tnpo3 |
C |
A |
6: 29,551,900 (GRCm39) |
V888F |
probably benign |
Het |
| Trim9 |
T |
C |
12: 70,393,608 (GRCm39) |
H112R |
probably benign |
Het |
| Vmn2r80 |
T |
C |
10: 78,984,711 (GRCm39) |
I21T |
probably benign |
Het |
| Wdr41 |
C |
A |
13: 95,149,654 (GRCm39) |
A286E |
possibly damaging |
Het |
| Wnt8b |
T |
A |
19: 44,500,396 (GRCm39) |
C328S |
probably damaging |
Het |
| Ybx3 |
A |
T |
6: 131,345,400 (GRCm39) |
Y324* |
probably null |
Het |
| Zmynd15 |
T |
A |
11: 70,351,767 (GRCm39) |
H124Q |
probably benign |
Het |
|
| Other mutations in Slc7a4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02717:Slc7a4
|
APN |
16 |
17,392,439 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCACTAGCTGTATATGGTCCG -3'
(R):5'- TCTGAGCTTATCTGCTGTGC -3'
Sequencing Primer
(F):5'- CCACTAGCTGTATATGGTCCGAAAAG -3'
(R):5'- ATCTGCTGTGCTGACTGC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation