Incidental Mutation 'R2433:Slc7a6os'
| ID |
250493 |
| 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 |
040394-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.955)
|
| Stock # |
R2433 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
106927349-106937567 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106931003 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 211
(N211S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039029
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035925]
|
| AlphaFold |
Q7TPE5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035925
AA Change: N211S
PolyPhen 2
Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000039029
Gene: ENSMUSG00000033106
AA Change: N211S
| 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
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(6) : Targeted(2) Gene trapped(4)
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp6v0a4 |
A |
G |
6: 38,058,964 (GRCm39) |
|
probably null |
Het |
| Bpifb4 |
A |
G |
2: 153,801,597 (GRCm39) |
K573E |
probably damaging |
Het |
| Capn10 |
T |
A |
1: 92,870,247 (GRCm39) |
D244E |
probably benign |
Het |
| Dhrs11 |
C |
A |
11: 84,719,745 (GRCm39) |
|
probably benign |
Het |
| Eipr1 |
G |
A |
12: 28,913,042 (GRCm39) |
G248R |
probably damaging |
Het |
| Fam120a |
A |
C |
13: 49,087,444 (GRCm39) |
D305E |
probably damaging |
Het |
| Hmgcr |
A |
G |
13: 96,802,393 (GRCm39) |
L97P |
probably damaging |
Het |
| Htt |
A |
T |
5: 35,064,885 (GRCm39) |
S3033C |
possibly damaging |
Het |
| Igkv10-94 |
T |
C |
6: 68,681,559 (GRCm39) |
T94A |
probably benign |
Het |
| Krtap16-3 |
T |
C |
16: 88,759,533 (GRCm39) |
Y60C |
unknown |
Het |
| Lrp4 |
G |
A |
2: 91,336,360 (GRCm39) |
V1724I |
probably benign |
Het |
| Myo5b |
A |
G |
18: 74,892,158 (GRCm39) |
Y1634C |
probably damaging |
Het |
| Nrxn3 |
A |
G |
12: 89,943,160 (GRCm39) |
Y96C |
probably damaging |
Het |
| Obscn |
A |
T |
11: 58,929,912 (GRCm39) |
|
probably null |
Het |
| Pde3b |
T |
C |
7: 114,126,072 (GRCm39) |
C769R |
probably benign |
Het |
| Phlpp2 |
T |
G |
8: 110,666,634 (GRCm39) |
C1054W |
probably damaging |
Het |
| Pttg1 |
A |
T |
11: 43,311,178 (GRCm39) |
V193D |
probably damaging |
Het |
| Robo1 |
T |
C |
16: 72,767,127 (GRCm39) |
L433S |
probably benign |
Het |
| Sema4f |
A |
T |
6: 82,916,490 (GRCm39) |
C13S |
possibly damaging |
Het |
| Slc12a3 |
T |
C |
8: 95,072,944 (GRCm39) |
L689P |
probably benign |
Het |
| Smurf2 |
T |
A |
11: 106,759,490 (GRCm39) |
I69F |
probably benign |
Het |
| St8sia3 |
A |
T |
18: 64,402,787 (GRCm39) |
H198L |
probably benign |
Het |
| Tacc3 |
A |
G |
5: 33,829,083 (GRCm39) |
K594R |
possibly damaging |
Het |
| Trip12 |
A |
T |
1: 84,721,544 (GRCm39) |
I1396K |
possibly damaging |
Het |
| Ugcg |
A |
G |
4: 59,207,876 (GRCm39) |
T72A |
possibly damaging |
Het |
| Zfp944 |
A |
T |
17: 22,558,193 (GRCm39) |
Y351* |
probably null |
Het |
|
| Other mutations in Slc7a6os |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
P0005:Slc7a6os
|
UTSW |
8 |
106,931,154 (GRCm39) |
missense |
probably benign |
0.26 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAATTGTCCTGGCTTCCACAC -3'
(R):5'- AGGCCTTCATTTACCCAATCCTTAG -3'
Sequencing Primer
(F):5'- TGGCTTCCACACATGCAC -3'
(R):5'- GTTTCTTTGTAGACATCTGATCCAG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation