Incidental Mutation 'IGL02798:Slc7a12'
| ID |
360043 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc7a12
|
| Ensembl Gene |
ENSMUSG00000039710 |
| Gene Name |
solute carrier family 7 (cationic amino acid transporter, y+ system), member 12 |
| Synonyms |
XAT1, Asc-2, asc-type amino acid transporter 2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
IGL02798
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
14545757-14570879 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 14546217 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 121
(C121S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038574
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037321]
[ENSMUST00000120484]
[ENSMUST00000120801]
|
| AlphaFold |
Q8VIE6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037321
AA Change: C121S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000038574
Gene: ENSMUSG00000039710
AA Change: C121S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AA_permease_2
|
7 |
430 |
1.7e-54 |
PFAM |
|
Pfam:AA_permease
|
11 |
433 |
3.4e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120484
|
| SMART Domains |
Protein: ENSMUSP00000112799
Gene: ENSMUSG00000039710
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AA_permease_2
|
1 |
173 |
5.3e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120801
|
| SMART Domains |
Protein: ENSMUSP00000113566
Gene: ENSMUSG00000039710
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AA_permease_2
|
1 |
173 |
5.3e-22 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam2 |
A |
T |
14: 66,277,724 (GRCm39) |
C514S |
probably damaging |
Het |
| Alcam |
A |
G |
16: 52,126,002 (GRCm39) |
I105T |
probably damaging |
Het |
| Arhgef10l |
A |
T |
4: 140,292,441 (GRCm39) |
|
probably null |
Het |
| Arhgef17 |
A |
G |
7: 100,578,833 (GRCm39) |
V705A |
probably benign |
Het |
| C87436 |
T |
A |
6: 86,423,184 (GRCm39) |
C253S |
probably benign |
Het |
| Cbx7 |
T |
C |
15: 79,802,600 (GRCm39) |
T226A |
probably damaging |
Het |
| Cdh20 |
T |
C |
1: 104,875,190 (GRCm39) |
I324T |
probably damaging |
Het |
| Celsr3 |
A |
T |
9: 108,720,774 (GRCm39) |
H2608L |
probably damaging |
Het |
| Cramp1 |
A |
G |
17: 25,187,894 (GRCm39) |
|
probably benign |
Het |
| Ddx25 |
A |
G |
9: 35,462,693 (GRCm39) |
C231R |
probably damaging |
Het |
| Emilin2 |
A |
G |
17: 71,563,690 (GRCm39) |
|
probably benign |
Het |
| Hip1r |
T |
C |
5: 124,132,775 (GRCm39) |
|
probably benign |
Het |
| Insrr |
C |
T |
3: 87,717,824 (GRCm39) |
P842S |
probably damaging |
Het |
| Lama1 |
G |
T |
17: 68,102,186 (GRCm39) |
|
probably benign |
Het |
| Lig3 |
T |
C |
11: 82,686,531 (GRCm39) |
|
probably benign |
Het |
| Lrp4 |
C |
A |
2: 91,307,055 (GRCm39) |
T392K |
probably benign |
Het |
| Msl2 |
G |
T |
9: 100,957,430 (GRCm39) |
R33S |
probably benign |
Het |
| Nrde2 |
T |
A |
12: 100,110,081 (GRCm39) |
K317* |
probably null |
Het |
| Nub1 |
C |
A |
5: 24,897,812 (GRCm39) |
A42D |
probably damaging |
Het |
| Obox2 |
T |
C |
7: 15,130,807 (GRCm39) |
V13A |
possibly damaging |
Het |
| Or13p3 |
T |
C |
4: 118,566,696 (GRCm39) |
F31L |
probably damaging |
Het |
| Or4k5 |
T |
A |
14: 50,385,835 (GRCm39) |
K165N |
probably benign |
Het |
| Or5ac20 |
A |
T |
16: 59,104,478 (GRCm39) |
C127* |
probably null |
Het |
| Phkb |
T |
C |
8: 86,770,406 (GRCm39) |
Y892H |
probably benign |
Het |
| Ptdss1 |
A |
G |
13: 67,124,824 (GRCm39) |
Y341C |
probably damaging |
Het |
| Ripor2 |
A |
T |
13: 24,858,649 (GRCm39) |
D147V |
probably damaging |
Het |
| Scn7a |
T |
C |
2: 66,544,219 (GRCm39) |
D424G |
probably benign |
Het |
| Scn9a |
C |
T |
2: 66,370,903 (GRCm39) |
R559Q |
possibly damaging |
Het |
| Sctr |
G |
A |
1: 119,949,910 (GRCm39) |
C33Y |
probably damaging |
Het |
| Sh2b2 |
G |
T |
5: 136,250,817 (GRCm39) |
A419E |
probably damaging |
Het |
| Slc22a30 |
A |
T |
19: 8,347,449 (GRCm39) |
M317K |
probably damaging |
Het |
| Slc39a4 |
T |
C |
15: 76,499,382 (GRCm39) |
S178G |
probably benign |
Het |
| Slmap |
T |
C |
14: 26,191,533 (GRCm39) |
S148G |
possibly damaging |
Het |
| Tent5a |
A |
T |
9: 85,206,937 (GRCm39) |
V287E |
probably damaging |
Het |
| Tktl2 |
A |
G |
8: 66,965,963 (GRCm39) |
K507R |
probably benign |
Het |
| Ttn |
T |
G |
2: 76,586,207 (GRCm39) |
K21841N |
probably damaging |
Het |
| Ugcg |
T |
C |
4: 59,220,346 (GRCm39) |
Y380H |
probably damaging |
Het |
| Zfp106 |
T |
C |
2: 120,340,991 (GRCm39) |
T1840A |
probably damaging |
Het |
| Zmynd8 |
T |
C |
2: 165,694,070 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Slc7a12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01465:Slc7a12
|
APN |
3 |
14,564,383 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL03081:Slc7a12
|
APN |
3 |
14,546,315 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1441:Slc7a12
|
UTSW |
3 |
14,562,414 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1672:Slc7a12
|
UTSW |
3 |
14,564,337 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2021:Slc7a12
|
UTSW |
3 |
14,562,393 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2209:Slc7a12
|
UTSW |
3 |
14,546,124 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5471:Slc7a12
|
UTSW |
3 |
14,545,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6136:Slc7a12
|
UTSW |
3 |
14,564,186 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6154:Slc7a12
|
UTSW |
3 |
14,546,094 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6169:Slc7a12
|
UTSW |
3 |
14,562,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6180:Slc7a12
|
UTSW |
3 |
14,546,200 (GRCm39) |
splice site |
probably null |
|
|
R6714:Slc7a12
|
UTSW |
3 |
14,546,380 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6723:Slc7a12
|
UTSW |
3 |
14,564,257 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7003:Slc7a12
|
UTSW |
3 |
14,570,580 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7230:Slc7a12
|
UTSW |
3 |
14,570,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7651:Slc7a12
|
UTSW |
3 |
14,546,509 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8429:Slc7a12
|
UTSW |
3 |
14,562,342 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9164:Slc7a12
|
UTSW |
3 |
14,564,360 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9259:Slc7a12
|
UTSW |
3 |
14,546,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9344:Slc7a12
|
UTSW |
3 |
14,570,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9431:Slc7a12
|
UTSW |
3 |
14,546,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9563:Slc7a12
|
UTSW |
3 |
14,564,360 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9687:Slc7a12
|
UTSW |
3 |
14,545,960 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
| Posted On |
2015-12-18 |
Incidental Mutation