Incidental Mutation 'R4496:Slc7a4'
ID |
330995 |
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 |
041749-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.472)
|
Stock # |
R4496 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
17389882-17394619 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 17393676 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 41
(D41G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000156098
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023441]
[ENSMUST00000063544]
[ENSMUST00000090165]
[ENSMUST00000164490]
[ENSMUST00000164545]
[ENSMUST00000164623]
[ENSMUST00000172164]
[ENSMUST00000168383]
[ENSMUST00000231283]
[ENSMUST00000232186]
[ENSMUST00000231552]
[ENSMUST00000231615]
[ENSMUST00000231645]
[ENSMUST00000232385]
[ENSMUST00000232226]
[ENSMUST00000232336]
[ENSMUST00000171002]
[ENSMUST00000231806]
|
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: D41G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000067243 Gene: ENSMUSG00000022756 AA Change: D41G
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: D41G
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000087627 Gene: ENSMUSG00000022756 AA Change: D41G
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: ENSMUST00000164490
AA Change: D41G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000129223 Gene: ENSMUSG00000022756 AA Change: D41G
Domain | Start | End | E-Value | Type |
transmembrane domain
|
44 |
63 |
N/A |
INTRINSIC |
low complexity region
|
70 |
82 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000164545
AA Change: D106G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000130375 Gene: ENSMUSG00000022756 AA Change: D106G
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: D41G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000133167 Gene: ENSMUSG00000022756 AA Change: D41G
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 damaging
Transcript: ENSMUST00000172164
AA Change: D41G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000127280 Gene: ENSMUSG00000022756 AA Change: D41G
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: 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: ENSMUST00000231283
AA Change: D41G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000232186
AA Change: D41G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000231552
AA Change: D41G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000231615
AA Change: D41G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000231645
AA Change: D106G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000232385
AA Change: D41G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000232226
AA Change: D41G
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000232336
AA Change: D41G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232429
|
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 benign
Transcript: ENSMUST00000231806
|
Meta Mutation Damage Score |
0.9380 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
100% (50/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
T |
A |
17: 24,602,947 (GRCm39) |
L514H |
possibly damaging |
Het |
Abca7 |
T |
C |
10: 79,838,768 (GRCm39) |
F647S |
probably damaging |
Het |
Ahi1 |
A |
G |
10: 20,841,444 (GRCm39) |
K244E |
probably benign |
Het |
Ankhd1 |
G |
A |
18: 36,693,839 (GRCm39) |
D17N |
probably damaging |
Het |
Arvcf |
G |
T |
16: 18,223,932 (GRCm39) |
K890N |
probably damaging |
Het |
Atosa |
T |
A |
9: 74,938,813 (GRCm39) |
S1038T |
probably damaging |
Het |
Atp11c |
T |
C |
X: 59,326,104 (GRCm39) |
D478G |
probably damaging |
Het |
Clasrp |
C |
A |
7: 19,319,165 (GRCm39) |
|
probably benign |
Het |
Clca3a2 |
C |
T |
3: 144,797,926 (GRCm39) |
D180N |
possibly damaging |
Het |
Comt |
T |
C |
16: 18,230,437 (GRCm39) |
|
probably null |
Het |
Cylc2 |
C |
G |
4: 51,229,651 (GRCm39) |
T331R |
unknown |
Het |
Cyp2d11 |
C |
T |
15: 82,276,149 (GRCm39) |
|
probably benign |
Het |
Fam169b |
G |
T |
7: 68,007,954 (GRCm39) |
C289F |
possibly damaging |
Het |
Fastkd5 |
T |
C |
2: 130,458,501 (GRCm39) |
T30A |
probably benign |
Het |
Fchsd2 |
A |
C |
7: 100,931,702 (GRCm39) |
T753P |
probably benign |
Het |
Gatd3a |
T |
C |
10: 77,999,377 (GRCm39) |
I145V |
probably damaging |
Het |
Glis3 |
G |
A |
19: 28,643,527 (GRCm39) |
S5L |
possibly damaging |
Het |
Gpr158 |
T |
A |
2: 21,831,810 (GRCm39) |
M970K |
probably damaging |
Het |
Gpt |
A |
T |
15: 76,582,663 (GRCm39) |
Q276L |
probably damaging |
Het |
Gtf3c3 |
G |
T |
1: 54,463,291 (GRCm39) |
S302R |
probably benign |
Het |
Hnrnpc |
A |
G |
14: 52,312,888 (GRCm39) |
S229P |
probably benign |
Het |
Ikzf5 |
T |
C |
7: 130,998,393 (GRCm39) |
|
probably null |
Het |
Mal2 |
T |
C |
15: 54,461,835 (GRCm39) |
V110A |
probably damaging |
Het |
Mideas |
C |
T |
12: 84,203,245 (GRCm39) |
G886S |
probably benign |
Het |
Myo3b |
A |
G |
2: 70,084,748 (GRCm39) |
D702G |
probably benign |
Het |
Myo9b |
G |
A |
8: 71,786,981 (GRCm39) |
R721Q |
probably benign |
Het |
Nat10 |
T |
A |
2: 103,588,084 (GRCm39) |
I14F |
probably damaging |
Het |
Nat14 |
C |
T |
7: 4,926,918 (GRCm39) |
T30M |
probably damaging |
Het |
Ndst4 |
C |
A |
3: 125,476,922 (GRCm39) |
A49D |
probably damaging |
Het |
Nnt |
A |
T |
13: 119,518,301 (GRCm39) |
M292K |
probably damaging |
Het |
Obox7 |
C |
T |
7: 14,399,299 (GRCm39) |
T175I |
probably benign |
Het |
Or2t26 |
T |
A |
11: 49,039,214 (GRCm39) |
N43K |
possibly damaging |
Het |
Or6c5c |
T |
G |
10: 129,299,430 (GRCm39) |
V295G |
possibly damaging |
Het |
Plekhm3 |
T |
C |
1: 64,900,395 (GRCm39) |
E634G |
probably damaging |
Het |
Plxdc2 |
T |
A |
2: 16,517,040 (GRCm39) |
I107K |
probably damaging |
Het |
Psmb10 |
T |
A |
8: 106,662,660 (GRCm39) |
R226S |
probably damaging |
Het |
Ptprr |
T |
A |
10: 116,065,407 (GRCm39) |
V160E |
possibly damaging |
Het |
Sema5a |
T |
A |
15: 32,641,133 (GRCm39) |
L649H |
probably damaging |
Het |
Sephs1 |
T |
A |
2: 4,911,494 (GRCm39) |
I356K |
probably benign |
Het |
Serpinb3d |
C |
T |
1: 107,007,022 (GRCm39) |
V229M |
probably damaging |
Het |
Sort1 |
T |
C |
3: 108,217,461 (GRCm39) |
V121A |
probably benign |
Het |
Tcf20 |
C |
A |
15: 82,739,185 (GRCm39) |
Q755H |
probably damaging |
Het |
Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
Ttll13 |
A |
T |
7: 79,906,667 (GRCm39) |
Y445F |
probably benign |
Het |
Usp40 |
T |
C |
1: 87,923,459 (GRCm39) |
I271V |
possibly damaging |
Het |
Vmn1r72 |
A |
G |
7: 11,403,791 (GRCm39) |
I219T |
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 |
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 |
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'- AGGTATGCTGAGCCAGTACG -3'
(R):5'- TGGGCTGTCTATGAAAGAATGG -3'
Sequencing Primer
(F):5'- CAGTACGGGGCACACGG -3'
(R):5'- AAAGAATGGAGGATGGTTGGTTATTC -3'
|
Posted On |
2015-07-21 |