Incidental Mutation 'P0005:Slc7a6os'
ID |
7601 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc7a6os
|
Ensembl Gene |
ENSMUSG00000033106 |
Gene Name |
solute carrier family 7, member 6 opposite strand |
Synonyms |
2010007L18Rik, 2400002F02Rik |
MMRRC Submission |
038262-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.958)
|
Stock # |
P0005 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
106927349-106937567 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 106931154 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 161
(I161V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039029
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035925]
|
AlphaFold |
Q7TPE5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035925
AA Change: I161V
PolyPhen 2
Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000039029 Gene: ENSMUSG00000033106 AA Change: I161V
Domain | Start | End | E-Value | Type |
Pfam:DUF1762
|
190 |
255 |
9.4e-13 |
PFAM |
low complexity region
|
271 |
282 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212150
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212587
|
Meta Mutation Damage Score |
0.2757 |
Coding Region Coverage |
- 1x: 85.5%
- 3x: 80.5%
- 10x: 66.1%
- 20x: 49.6%
|
Validation Efficiency |
95% (104/109) |
Allele List at MGI |
All alleles(6) : Targeted(2) Gene trapped(4)
|
Other mutations in this stock |
Total: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp13a1 |
T |
C |
8: 70,256,397 (GRCm39) |
V845A |
possibly damaging |
Het |
Casp6 |
T |
C |
3: 129,705,792 (GRCm39) |
V153A |
probably benign |
Het |
Col6a1 |
A |
G |
10: 76,553,163 (GRCm39) |
|
probably benign |
Het |
Dars2 |
A |
G |
1: 160,881,509 (GRCm39) |
|
probably null |
Het |
Hmgcll1 |
T |
A |
9: 75,982,041 (GRCm39) |
M162K |
possibly damaging |
Het |
Hydin |
A |
T |
8: 111,220,921 (GRCm39) |
|
probably null |
Het |
Ift74 |
A |
G |
4: 94,550,813 (GRCm39) |
|
probably benign |
Het |
Itpr1 |
A |
T |
6: 108,358,218 (GRCm39) |
I595F |
probably damaging |
Het |
Mgat4f |
T |
A |
1: 134,315,646 (GRCm39) |
M15K |
probably benign |
Het |
Mmp17 |
T |
C |
5: 129,673,695 (GRCm39) |
V258A |
probably benign |
Het |
Nek6 |
T |
C |
2: 38,459,749 (GRCm39) |
|
probably null |
Het |
Nomo1 |
A |
T |
7: 45,686,981 (GRCm39) |
|
probably null |
Het |
Nudt3 |
A |
G |
17: 27,815,689 (GRCm39) |
|
probably benign |
Het |
Pramel32 |
A |
G |
4: 88,546,187 (GRCm39) |
L385P |
probably damaging |
Het |
Prkg2 |
A |
C |
5: 99,117,806 (GRCm39) |
F512V |
probably damaging |
Het |
Ptp4a3 |
T |
A |
15: 73,627,160 (GRCm39) |
D72E |
possibly damaging |
Het |
Rpgrip1l |
A |
T |
8: 92,025,853 (GRCm39) |
|
probably benign |
Het |
Rrp9 |
G |
A |
9: 106,358,376 (GRCm39) |
R101H |
probably benign |
Het |
Tex15 |
T |
C |
8: 34,060,896 (GRCm39) |
F109L |
probably benign |
Het |
Tns2 |
A |
G |
15: 102,022,491 (GRCm39) |
Q1188R |
probably damaging |
Het |
|
Other mutations in Slc7a6os |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0325:Slc7a6os
|
UTSW |
8 |
106,927,688 (GRCm39) |
missense |
probably benign |
|
R0331:Slc7a6os
|
UTSW |
8 |
106,937,199 (GRCm39) |
missense |
probably damaging |
0.99 |
R1718:Slc7a6os
|
UTSW |
8 |
106,930,971 (GRCm39) |
missense |
probably damaging |
1.00 |
R1919:Slc7a6os
|
UTSW |
8 |
106,937,196 (GRCm39) |
missense |
probably damaging |
1.00 |
R2433:Slc7a6os
|
UTSW |
8 |
106,931,003 (GRCm39) |
missense |
possibly damaging |
0.88 |
R4880:Slc7a6os
|
UTSW |
8 |
106,937,247 (GRCm39) |
missense |
probably benign |
0.27 |
R5940:Slc7a6os
|
UTSW |
8 |
106,937,437 (GRCm39) |
missense |
probably damaging |
0.99 |
R5988:Slc7a6os
|
UTSW |
8 |
106,928,965 (GRCm39) |
missense |
probably benign |
|
R7296:Slc7a6os
|
UTSW |
8 |
106,937,121 (GRCm39) |
nonsense |
probably null |
|
R7873:Slc7a6os
|
UTSW |
8 |
106,937,356 (GRCm39) |
missense |
probably damaging |
1.00 |
R8821:Slc7a6os
|
UTSW |
8 |
106,937,189 (GRCm39) |
missense |
probably benign |
0.01 |
R8831:Slc7a6os
|
UTSW |
8 |
106,937,189 (GRCm39) |
missense |
probably benign |
0.01 |
R9762:Slc7a6os
|
UTSW |
8 |
106,937,523 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Posted On |
2012-10-05 |