Incidental Mutation 'R2097:Slc7a4'
| ID |
230336 |
| 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 |
040101-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.491)
|
| Stock # |
R2097 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
17389882-17394619 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to T
at 17391319 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156098
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023441]
[ENSMUST00000063544]
[ENSMUST00000090165]
[ENSMUST00000171002]
[ENSMUST00000172164]
[ENSMUST00000231283]
[ENSMUST00000231645]
[ENSMUST00000232186]
[ENSMUST00000232385]
[ENSMUST00000232226]
[ENSMUST00000232336]
[ENSMUST00000231806]
[ENSMUST00000231552]
[ENSMUST00000231615]
|
| 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 |
probably null
Transcript: ENSMUST00000063544
|
| SMART Domains |
Protein: ENSMUSP00000067243
Gene: ENSMUSG00000022756
| 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 null
Transcript: ENSMUST00000090165
|
| SMART Domains |
Protein: ENSMUSP00000087627
Gene: ENSMUSG00000022756
| 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: 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 |
probably null
Transcript: ENSMUST00000172164
|
| SMART Domains |
Protein: ENSMUSP00000127280
Gene: ENSMUSG00000022756
| 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: ENSMUST00000231645
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232186
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000232385
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232429
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000232226
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232336
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231806
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231552
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000231615
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (43/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr8 |
T |
C |
14: 29,709,185 (GRCm39) |
V263A |
probably damaging |
Het |
| Apol6 |
T |
A |
15: 76,931,333 (GRCm39) |
|
probably null |
Het |
| Aqp3 |
C |
T |
4: 41,098,004 (GRCm39) |
V36M |
possibly damaging |
Het |
| Bace1 |
G |
T |
9: 45,771,520 (GRCm39) |
C478F |
probably benign |
Het |
| Bbof1 |
C |
A |
12: 84,460,081 (GRCm39) |
A116D |
probably damaging |
Het |
| Casq1 |
A |
T |
1: 172,037,988 (GRCm39) |
L381Q |
probably damaging |
Het |
| Ccdc138 |
T |
A |
10: 58,397,759 (GRCm39) |
L533* |
probably null |
Het |
| Cdcp3 |
A |
T |
7: 130,783,693 (GRCm39) |
R29* |
probably null |
Het |
| Cnga1 |
C |
T |
5: 72,776,404 (GRCm39) |
V20I |
possibly damaging |
Het |
| Cntn6 |
A |
G |
6: 104,838,910 (GRCm39) |
E988G |
probably damaging |
Het |
| Cts6 |
T |
A |
13: 61,343,259 (GRCm39) |
N321Y |
probably damaging |
Het |
| Dnmt1 |
A |
G |
9: 20,821,084 (GRCm39) |
S1269P |
probably benign |
Het |
| Dsg4 |
C |
A |
18: 20,604,101 (GRCm39) |
P856H |
probably damaging |
Het |
| Fndc3a |
C |
A |
14: 72,811,791 (GRCm39) |
|
probably null |
Het |
| Galc |
T |
C |
12: 98,218,291 (GRCm39) |
D187G |
probably benign |
Het |
| Gfm1 |
T |
C |
3: 67,357,079 (GRCm39) |
I384T |
probably damaging |
Het |
| Hacd2 |
A |
G |
16: 34,869,090 (GRCm39) |
I92V |
probably benign |
Het |
| Hmcn2 |
T |
A |
2: 31,270,431 (GRCm39) |
Y1223N |
probably damaging |
Het |
| Il20ra |
T |
C |
10: 19,635,211 (GRCm39) |
I484T |
probably damaging |
Het |
| Map7 |
G |
T |
10: 20,122,362 (GRCm39) |
V143F |
probably damaging |
Het |
| Mcm3ap |
T |
C |
10: 76,348,323 (GRCm39) |
L1893P |
probably damaging |
Het |
| Msh6 |
A |
G |
17: 88,292,844 (GRCm39) |
N533S |
probably benign |
Het |
| Nbea |
T |
C |
3: 55,630,638 (GRCm39) |
D2233G |
probably damaging |
Het |
| Nlrp6 |
A |
T |
7: 140,503,117 (GRCm39) |
T408S |
probably damaging |
Het |
| Notch3 |
A |
T |
17: 32,341,728 (GRCm39) |
L2008Q |
probably damaging |
Het |
| Odad4 |
T |
A |
11: 100,454,408 (GRCm39) |
F398I |
possibly damaging |
Het |
| Or52e19b |
T |
A |
7: 103,032,840 (GRCm39) |
D123V |
probably damaging |
Het |
| Or8k20 |
A |
T |
2: 86,106,383 (GRCm39) |
Y149* |
probably null |
Het |
| Pggt1b |
T |
C |
18: 46,379,695 (GRCm39) |
N296D |
probably benign |
Het |
| Pglyrp3 |
T |
A |
3: 91,935,478 (GRCm39) |
F243I |
possibly damaging |
Het |
| Phip |
T |
C |
9: 82,797,392 (GRCm39) |
H537R |
possibly damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Ptpdc1 |
T |
A |
13: 48,746,135 (GRCm39) |
|
probably null |
Het |
| Ptprq |
T |
C |
10: 107,489,354 (GRCm39) |
T924A |
probably benign |
Het |
| Pwp2 |
C |
A |
10: 78,013,576 (GRCm39) |
|
probably benign |
Het |
| Tmem132b |
T |
A |
5: 125,715,272 (GRCm39) |
I327K |
probably damaging |
Het |
| Trim9 |
T |
C |
12: 70,393,933 (GRCm39) |
M4V |
probably damaging |
Het |
| Tspan13 |
T |
C |
12: 36,071,829 (GRCm39) |
S128G |
probably benign |
Het |
| Zbtb20 |
A |
G |
16: 43,429,882 (GRCm39) |
D131G |
probably null |
Het |
| Zeb2 |
A |
T |
2: 44,887,168 (GRCm39) |
C615S |
probably damaging |
Het |
| Zfp777 |
C |
T |
6: 48,021,176 (GRCm39) |
D149N |
probably benign |
Het |
| Zfp990 |
A |
G |
4: 145,263,892 (GRCm39) |
K297E |
possibly damaging |
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 |
|
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 |
|
| Predicted Primers |
|
| Posted On |
2014-09-18 |
Incidental Mutation