Incidental Mutation 'R1426:Slc7a4'
| ID |
162263 |
| 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 |
039482-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.491)
|
| Stock # |
R1426 (G1)
|
| Quality Score |
192 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
17389882-17394619 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 17391808 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]
[ENSMUST00000231806]
[ENSMUST00000231645]
[ENSMUST00000232336]
[ENSMUST00000231615]
[ENSMUST00000232226]
[ENSMUST00000232385]
[ENSMUST00000232186]
[ENSMUST00000231552]
|
| AlphaFold |
Q8BLQ7 |
| Predicted Effect |
probably null
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 null
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: ENSMUST00000231806
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231645
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232336
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232429
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000231615
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000232226
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000232385
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232186
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231552
|
| Meta Mutation Damage Score |
0.9493 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.3%
- 20x: 86.1%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
A |
T |
17: 46,635,361 (GRCm39) |
V214E |
probably damaging |
Het |
| Adh1 |
A |
G |
3: 137,992,556 (GRCm39) |
D224G |
probably damaging |
Het |
| Arhgap28 |
C |
A |
17: 68,164,459 (GRCm39) |
Q554H |
probably damaging |
Het |
| Atp8a2 |
T |
C |
14: 60,097,719 (GRCm39) |
K770E |
probably benign |
Het |
| Brat1 |
G |
A |
5: 140,703,768 (GRCm39) |
V674I |
probably benign |
Het |
| Brd2 |
ATCTTCTTC |
ATCTTC |
17: 34,332,981 (GRCm39) |
|
probably benign |
Het |
| Ccdc162 |
T |
C |
10: 41,429,178 (GRCm39) |
D438G |
possibly damaging |
Het |
| Cyp4x1 |
T |
A |
4: 114,969,988 (GRCm39) |
|
probably benign |
Het |
| Dip2a |
T |
C |
10: 76,115,654 (GRCm39) |
|
probably benign |
Het |
| Eif2s1 |
A |
G |
12: 78,927,942 (GRCm39) |
D206G |
probably benign |
Het |
| Elovl7 |
T |
A |
13: 108,419,028 (GRCm39) |
I220N |
possibly damaging |
Het |
| Gsto1 |
A |
G |
19: 47,846,381 (GRCm39) |
E76G |
probably damaging |
Het |
| Hspa14 |
A |
T |
2: 3,509,858 (GRCm39) |
W12R |
probably damaging |
Het |
| L3mbtl2 |
T |
A |
15: 81,560,518 (GRCm39) |
C260S |
possibly damaging |
Het |
| Lama3 |
G |
T |
18: 12,614,155 (GRCm39) |
|
probably null |
Het |
| Lrrc34 |
T |
A |
3: 30,697,728 (GRCm39) |
|
probably benign |
Het |
| Lrrc45 |
A |
T |
11: 120,610,839 (GRCm39) |
Q525L |
probably benign |
Het |
| Lss |
T |
C |
10: 76,372,137 (GRCm39) |
I164T |
probably damaging |
Het |
| Myh11 |
T |
A |
16: 14,023,795 (GRCm39) |
K1527* |
probably null |
Het |
| Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
| Ncoa1 |
T |
A |
12: 4,320,737 (GRCm39) |
|
probably benign |
Het |
| Or5an1c |
G |
T |
19: 12,218,546 (GRCm39) |
Q160K |
possibly damaging |
Het |
| Or6c38 |
A |
T |
10: 128,929,559 (GRCm39) |
C95S |
probably damaging |
Het |
| Pafah1b3 |
T |
C |
7: 24,996,560 (GRCm39) |
E41G |
possibly damaging |
Het |
| Pnma8a |
C |
T |
7: 16,694,909 (GRCm39) |
P255S |
possibly damaging |
Het |
| Prkar2b |
A |
T |
12: 32,012,987 (GRCm39) |
|
probably benign |
Het |
| Rbck1 |
A |
T |
2: 152,169,161 (GRCm39) |
|
probably benign |
Het |
| Rcor2 |
A |
G |
19: 7,248,395 (GRCm39) |
S137G |
possibly damaging |
Het |
| Slc25a48 |
T |
A |
13: 56,596,804 (GRCm39) |
|
probably benign |
Het |
| Tert |
T |
C |
13: 73,790,472 (GRCm39) |
|
probably benign |
Het |
| Traf7 |
A |
T |
17: 24,730,655 (GRCm39) |
I344N |
probably damaging |
Het |
| Vmn1r194 |
T |
A |
13: 22,429,236 (GRCm39) |
F284L |
probably damaging |
Het |
| Xpc |
A |
G |
6: 91,470,220 (GRCm39) |
M699T |
probably damaging |
Het |
| Zbtb5 |
T |
C |
4: 44,993,968 (GRCm39) |
H472R |
possibly damaging |
Het |
| Zfp786 |
A |
G |
6: 47,802,013 (GRCm39) |
V88A |
probably benign |
Het |
| Zkscan7 |
T |
C |
9: 122,724,228 (GRCm39) |
I399T |
probably benign |
Het |
| Zyg11b |
G |
A |
4: 108,108,009 (GRCm39) |
R466C |
probably 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAGAGTTGGAGCCATGTGTACC -3'
(R):5'- TGAGCAGACCTCAATGTCTGAGCC -3'
Sequencing Primer
(F):5'- GAGCCATGTGTACCCACACC -3'
(R):5'- ATGGATGCAGCCCTGGAAC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation