Incidental Mutation 'R5102:Slc7a4'
| ID |
392445 |
| 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 |
042690-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.472)
|
| Stock # |
R5102 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
17389882-17394619 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 17393482 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 106
(T106A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156166
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023441]
[ENSMUST00000063544]
[ENSMUST00000090165]
[ENSMUST00000164545]
[ENSMUST00000164623]
[ENSMUST00000171002]
[ENSMUST00000172164]
[ENSMUST00000231552]
[ENSMUST00000231645]
[ENSMUST00000231283]
[ENSMUST00000232226]
[ENSMUST00000232385]
[ENSMUST00000231615]
[ENSMUST00000231806]
[ENSMUST00000232336]
[ENSMUST00000232186]
|
| 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: T106A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000067243
Gene: ENSMUSG00000022756
AA Change: T106A
| 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: T106A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000087627
Gene: ENSMUSG00000022756
AA Change: T106A
| 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: T171A
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000130375
Gene: ENSMUSG00000022756
AA Change: T171A
| 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: T106A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133167
Gene: ENSMUSG00000022756
AA Change: T106A
| 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: 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 damaging
Transcript: ENSMUST00000172164
AA Change: T106A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127280
Gene: ENSMUSG00000022756
AA Change: T106A
| 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: ENSMUST00000231552
AA Change: T106A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000231645
AA Change: T171A
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231283
AA Change: T106A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232226
AA Change: T106A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232385
AA Change: T106A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231615
AA Change: T106A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231806
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232336
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232429
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232186
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox4 |
C |
T |
1: 58,279,937 (GRCm39) |
R518C |
probably damaging |
Het |
| Apbb2 |
A |
T |
5: 66,469,592 (GRCm39) |
|
probably null |
Het |
| Arhgap45 |
C |
T |
10: 79,857,262 (GRCm39) |
P254S |
probably benign |
Het |
| Arl4c |
T |
C |
1: 88,629,322 (GRCm39) |
D22G |
probably damaging |
Het |
| Asxl1 |
A |
G |
2: 153,242,875 (GRCm39) |
T1142A |
probably benign |
Het |
| BC035044 |
T |
C |
6: 128,861,949 (GRCm39) |
|
probably benign |
Het |
| Bmp4 |
T |
C |
14: 46,621,458 (GRCm39) |
N362S |
probably damaging |
Het |
| Cbll1 |
G |
T |
12: 31,537,912 (GRCm39) |
T280N |
probably damaging |
Het |
| Cdh10 |
A |
T |
15: 18,986,971 (GRCm39) |
T401S |
probably benign |
Het |
| Cmklr2 |
A |
G |
1: 63,222,326 (GRCm39) |
V303A |
probably damaging |
Het |
| Cps1 |
A |
T |
1: 67,245,952 (GRCm39) |
M1148L |
probably benign |
Het |
| Crybg1 |
T |
C |
10: 43,873,832 (GRCm39) |
D1092G |
probably damaging |
Het |
| Cyth2 |
A |
G |
7: 45,460,126 (GRCm39) |
S173P |
probably damaging |
Het |
| D6Ertd527e |
A |
T |
6: 87,088,793 (GRCm39) |
I319F |
unknown |
Het |
| Dchs1 |
A |
T |
7: 105,421,384 (GRCm39) |
H345Q |
probably benign |
Het |
| Ddx50 |
A |
T |
10: 62,476,640 (GRCm39) |
V211E |
probably damaging |
Het |
| Dlx6 |
AGG |
AG |
6: 6,865,180 (GRCm39) |
|
probably null |
Het |
| Dnajb5 |
G |
A |
4: 42,956,639 (GRCm39) |
D109N |
possibly damaging |
Het |
| Dner |
A |
T |
1: 84,383,691 (GRCm39) |
N564K |
probably damaging |
Het |
| Fam234b |
T |
C |
6: 135,186,282 (GRCm39) |
S97P |
probably benign |
Het |
| Fam53b |
G |
A |
7: 132,317,684 (GRCm39) |
R60* |
probably null |
Het |
| Fmo3 |
T |
G |
1: 162,791,546 (GRCm39) |
K244Q |
probably benign |
Het |
| Golim4 |
A |
G |
3: 75,810,579 (GRCm39) |
I192T |
possibly damaging |
Het |
| Gprin1 |
T |
C |
13: 54,887,576 (GRCm39) |
M233V |
probably benign |
Het |
| Gtf2f1 |
A |
T |
17: 57,310,626 (GRCm39) |
V443D |
probably damaging |
Het |
| Hmgcs2 |
T |
C |
3: 98,187,786 (GRCm39) |
|
probably benign |
Het |
| Ide |
T |
A |
19: 37,292,383 (GRCm39) |
I271L |
unknown |
Het |
| Kat8 |
G |
A |
7: 127,523,988 (GRCm39) |
E343K |
probably damaging |
Het |
| Kif14 |
A |
G |
1: 136,444,141 (GRCm39) |
I1378V |
probably benign |
Het |
| Lhx3 |
TCCTACGGGCCGGCCC |
TCC |
2: 26,091,435 (GRCm39) |
|
probably null |
Het |
| Lhx6 |
T |
C |
2: 35,984,222 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
C |
T |
2: 69,319,502 (GRCm39) |
G2007D |
probably damaging |
Het |
| Lrp5 |
T |
C |
19: 3,709,304 (GRCm39) |
K142R |
probably damaging |
Het |
| Macroh2a1 |
C |
G |
13: 56,243,936 (GRCm39) |
|
probably null |
Het |
| Mrpl2 |
G |
A |
17: 46,960,964 (GRCm39) |
R286Q |
probably benign |
Het |
| Mtrfr |
A |
G |
5: 124,476,954 (GRCm39) |
N83D |
probably damaging |
Het |
| Nacad |
T |
A |
11: 6,548,528 (GRCm39) |
D1402V |
probably damaging |
Het |
| Ndfip2 |
T |
C |
14: 105,535,539 (GRCm39) |
I275T |
possibly damaging |
Het |
| Neb |
A |
C |
2: 52,116,582 (GRCm39) |
V4131G |
possibly damaging |
Het |
| Nfe2l1 |
G |
A |
11: 96,712,934 (GRCm39) |
A83V |
probably damaging |
Het |
| Nos3 |
A |
G |
5: 24,576,625 (GRCm39) |
D418G |
probably damaging |
Het |
| Or12e7 |
A |
T |
2: 87,288,138 (GRCm39) |
M210L |
probably benign |
Het |
| Or1n1b |
T |
A |
2: 36,780,056 (GRCm39) |
K268M |
possibly damaging |
Het |
| Plcd4 |
A |
G |
1: 74,604,313 (GRCm39) |
T764A |
probably damaging |
Het |
| Plppr3 |
G |
T |
10: 79,701,220 (GRCm39) |
P541T |
possibly damaging |
Het |
| Polr2a |
A |
G |
11: 69,637,771 (GRCm39) |
I191T |
possibly damaging |
Het |
| Pramel18 |
T |
C |
4: 101,766,436 (GRCm39) |
F40S |
probably damaging |
Het |
| Rab11fip1 |
T |
C |
8: 27,646,402 (GRCm39) |
K225E |
probably damaging |
Het |
| Rara |
A |
T |
11: 98,857,185 (GRCm39) |
Q64L |
possibly damaging |
Het |
| Rtkn |
G |
A |
6: 83,126,754 (GRCm39) |
V305M |
probably damaging |
Het |
| Sh2b1 |
A |
C |
7: 126,070,408 (GRCm39) |
F399V |
probably benign |
Het |
| Srcap |
G |
A |
7: 127,129,795 (GRCm39) |
G539D |
probably damaging |
Het |
| Stab1 |
C |
T |
14: 30,869,974 (GRCm39) |
|
probably null |
Het |
| Zfp267 |
G |
A |
3: 36,216,814 (GRCm39) |
C55Y |
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 |
|
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 |
|
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'- CACGAGTAAAATGCCAGCGG -3'
(R):5'- CACTGGACTTGACTCTACTGG -3'
Sequencing Primer
(F):5'- GCCAGCGGCCAGAAAATCTG -3'
(R):5'- ACTTGACTCTACTGGGTGTGG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation