Incidental Mutation 'R0402:Slc7a4'
| ID |
35644 |
| 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 |
038607-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.472)
|
| Stock # |
R0402 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
17389882-17394619 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 17393497 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 101
(S101P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156166
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023441]
[ENSMUST00000063544]
[ENSMUST00000090165]
[ENSMUST00000164545]
[ENSMUST00000164623]
[ENSMUST00000168383]
[ENSMUST00000172164]
[ENSMUST00000231615]
[ENSMUST00000231645]
[ENSMUST00000232385]
[ENSMUST00000231283]
[ENSMUST00000232226]
[ENSMUST00000231552]
[ENSMUST00000231806]
[ENSMUST00000232336]
[ENSMUST00000232186]
[ENSMUST00000171002]
|
| 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 damaging
Transcript: ENSMUST00000063544
AA Change: S101P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000067243
Gene: ENSMUSG00000022756
AA Change: S101P
| 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 damaging
Transcript: ENSMUST00000090165
AA Change: S101P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000087627
Gene: ENSMUSG00000022756
AA Change: S101P
| 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 damaging
Transcript: ENSMUST00000164545
AA Change: S166P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130375
Gene: ENSMUSG00000022756
AA Change: S166P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AA_permease_2
|
102 |
231 |
9.8e-15 |
PFAM |
|
Pfam:AA_permease
|
106 |
230 |
2.7e-11 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164623
AA Change: S101P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133167
Gene: ENSMUSG00000022756
AA Change: S101P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AA_permease_2
|
37 |
140 |
1.5e-14 |
PFAM |
|
Pfam:AA_permease
|
41 |
140 |
6.4e-11 |
PFAM |
|
| 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 damaging
Transcript: ENSMUST00000172164
AA Change: S101P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127280
Gene: ENSMUSG00000022756
AA Change: S101P
| 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 damaging
Transcript: ENSMUST00000231615
AA Change: S101P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231645
AA Change: S166P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232385
AA Change: S101P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231283
AA Change: S101P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232226
AA Change: S101P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231552
AA Change: S101P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231806
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232336
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232429
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232186
|
| 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 |
|
| Meta Mutation Damage Score |
0.9642 |
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.0%
- 10x: 94.5%
- 20x: 88.7%
|
| Validation Efficiency |
100% (74/74) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
A |
T |
10: 100,445,115 (GRCm39) |
K165N |
probably damaging |
Het |
| Adam6b |
T |
A |
12: 113,453,615 (GRCm39) |
M144K |
probably damaging |
Het |
| Arhgap44 |
T |
C |
11: 64,922,903 (GRCm39) |
|
probably benign |
Het |
| Arl5c |
T |
A |
11: 97,885,939 (GRCm39) |
I21F |
probably damaging |
Het |
| Bglap2 |
C |
T |
3: 88,285,552 (GRCm39) |
G40D |
probably damaging |
Het |
| Bptf |
T |
C |
11: 106,964,940 (GRCm39) |
E1303G |
probably damaging |
Het |
| Calhm1 |
T |
C |
19: 47,129,896 (GRCm39) |
T209A |
probably damaging |
Het |
| Ccr8 |
A |
G |
9: 119,923,976 (GRCm39) |
|
probably null |
Het |
| Chkb |
C |
T |
15: 89,313,610 (GRCm39) |
R65Q |
probably benign |
Het |
| Col4a1 |
T |
C |
8: 11,249,838 (GRCm39) |
|
probably benign |
Het |
| Cryzl2 |
A |
G |
1: 157,292,014 (GRCm39) |
T98A |
probably benign |
Het |
| D430041D05Rik |
T |
C |
2: 103,998,509 (GRCm39) |
T1080A |
probably damaging |
Het |
| Dhx8 |
C |
A |
11: 101,643,223 (GRCm39) |
T765N |
probably damaging |
Het |
| Dicer1 |
T |
C |
12: 104,697,323 (GRCm39) |
D78G |
probably benign |
Het |
| Drd2 |
A |
G |
9: 49,316,271 (GRCm39) |
I344V |
probably benign |
Het |
| Edil3 |
A |
T |
13: 89,347,570 (GRCm39) |
|
probably benign |
Het |
| Fbxw19 |
C |
T |
9: 109,313,493 (GRCm39) |
G235D |
probably benign |
Het |
| Fzd1 |
T |
C |
5: 4,805,702 (GRCm39) |
K627E |
possibly damaging |
Het |
| Garin1b |
A |
G |
6: 29,323,901 (GRCm39) |
T209A |
probably benign |
Het |
| Garin4 |
T |
C |
1: 190,896,637 (GRCm39) |
D2G |
probably benign |
Het |
| Gm10638 |
A |
G |
8: 87,472,828 (GRCm39) |
|
probably benign |
Het |
| H6pd |
G |
T |
4: 150,080,773 (GRCm39) |
A24E |
probably damaging |
Het |
| Hectd2 |
G |
T |
19: 36,578,929 (GRCm39) |
|
probably null |
Het |
| Hps5 |
A |
G |
7: 46,440,333 (GRCm39) |
|
probably benign |
Het |
| Irx3 |
T |
C |
8: 92,527,296 (GRCm39) |
N136S |
possibly damaging |
Het |
| Kcmf1 |
T |
C |
6: 72,826,568 (GRCm39) |
M1V |
probably null |
Het |
| Klrb1 |
A |
T |
6: 128,687,583 (GRCm39) |
F104I |
probably benign |
Het |
| Lrfn5 |
T |
C |
12: 61,886,803 (GRCm39) |
M197T |
probably benign |
Het |
| Mpdz |
A |
C |
4: 81,279,677 (GRCm39) |
M51R |
possibly damaging |
Het |
| Mtbp |
G |
T |
15: 55,432,466 (GRCm39) |
E258* |
probably null |
Het |
| Mylk3 |
T |
A |
8: 86,079,539 (GRCm39) |
H373L |
probably damaging |
Het |
| Myrfl |
A |
G |
10: 116,664,882 (GRCm39) |
S383P |
probably damaging |
Het |
| Nt5c |
T |
C |
11: 115,381,468 (GRCm39) |
*195W |
probably null |
Het |
| Ocstamp |
A |
G |
2: 165,238,184 (GRCm39) |
V360A |
possibly damaging |
Het |
| Or10ak16 |
A |
T |
4: 118,750,426 (GRCm39) |
I49F |
possibly damaging |
Het |
| Or10al6 |
T |
A |
17: 38,083,284 (GRCm39) |
C247S |
probably damaging |
Het |
| Or4k35 |
A |
G |
2: 111,100,208 (GRCm39) |
F168S |
probably damaging |
Het |
| Or4p19 |
A |
T |
2: 88,242,378 (GRCm39) |
V208D |
probably damaging |
Het |
| Or5an9 |
A |
G |
19: 12,186,953 (GRCm39) |
T8A |
probably damaging |
Het |
| Otop2 |
T |
C |
11: 115,217,234 (GRCm39) |
|
probably benign |
Het |
| Pom121l2 |
A |
T |
13: 22,172,649 (GRCm39) |
|
probably benign |
Het |
| Pon2 |
T |
A |
6: 5,272,410 (GRCm39) |
K137* |
probably null |
Het |
| Ppip5k2 |
T |
A |
1: 97,647,579 (GRCm39) |
Q1049L |
probably benign |
Het |
| Ralgapa2 |
C |
T |
2: 146,276,729 (GRCm39) |
V504M |
probably damaging |
Het |
| Rph3a |
G |
A |
5: 121,080,317 (GRCm39) |
H654Y |
probably damaging |
Het |
| Sh2d1b1 |
T |
C |
1: 170,107,342 (GRCm39) |
|
probably benign |
Het |
| Slc15a2 |
G |
A |
16: 36,595,960 (GRCm39) |
T154I |
probably benign |
Het |
| Slc45a3 |
T |
C |
1: 131,905,265 (GRCm39) |
V96A |
possibly damaging |
Het |
| Smco2 |
T |
C |
6: 146,772,633 (GRCm39) |
|
probably benign |
Het |
| Spata2 |
A |
T |
2: 167,325,580 (GRCm39) |
V413E |
probably benign |
Het |
| Specc1l |
A |
G |
10: 75,082,260 (GRCm39) |
E552G |
probably damaging |
Het |
| Sstr5 |
C |
T |
17: 25,711,008 (GRCm39) |
V74M |
probably benign |
Het |
| Timm50 |
G |
A |
7: 28,006,280 (GRCm39) |
R274W |
probably damaging |
Het |
| Tll2 |
A |
G |
19: 41,087,132 (GRCm39) |
V573A |
possibly damaging |
Het |
| Tm7sf3 |
C |
A |
6: 146,507,685 (GRCm39) |
R459M |
possibly damaging |
Het |
| Txk |
A |
G |
5: 72,889,105 (GRCm39) |
|
probably null |
Het |
| Uroc1 |
A |
G |
6: 90,324,284 (GRCm39) |
D436G |
probably damaging |
Het |
| Vmn1r13 |
T |
A |
6: 57,187,083 (GRCm39) |
Y81N |
possibly damaging |
Het |
| Vmn2r19 |
A |
G |
6: 123,313,141 (GRCm39) |
E737G |
probably damaging |
Het |
| Wfs1 |
A |
G |
5: 37,134,324 (GRCm39) |
|
probably benign |
Het |
| Zfp1 |
G |
A |
8: 112,396,875 (GRCm39) |
E285K |
probably damaging |
Het |
| Zfp1005 |
T |
A |
2: 150,111,136 (GRCm39) |
C609S |
possibly damaging |
Het |
| Zfp661 |
G |
A |
2: 127,419,640 (GRCm39) |
Q167* |
probably null |
Het |
| Zswim8 |
T |
C |
14: 20,760,834 (GRCm39) |
F36S |
probably damaging |
Het |
| Zw10 |
A |
G |
9: 48,980,023 (GRCm39) |
T385A |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCCGTGAAGTTGCGAATGCTG -3'
(R):5'- TGAACCGTCTGAAGCCACTGGAAG -3'
Sequencing Primer
(F):5'- CTGTGGTTAAAGATGGCATCC -3'
(R):5'- TCTAGCATGGAGACATCACTG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation