Incidental Mutation 'R4638:Slc7a10'
| ID |
350797 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc7a10
|
| Ensembl Gene |
ENSMUSG00000030495 |
| Gene Name |
solute carrier family 7 (cationic amino acid transporter, y+ system), member 10 |
| Synonyms |
Asc-1, D7Bwg0847e |
| MMRRC Submission |
041900-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.112)
|
| Stock # |
R4638 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
34885810-34900539 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34897355 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 262
(E262G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118331
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001854]
[ENSMUST00000118444]
[ENSMUST00000122409]
[ENSMUST00000131048]
[ENSMUST00000135452]
[ENSMUST00000167441]
|
| AlphaFold |
P63115 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000001854
AA Change: E262G
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000001854
Gene: ENSMUSG00000030495
AA Change: E262G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
37 |
N/A |
INTRINSIC |
|
Pfam:AA_permease_2
|
46 |
474 |
4.8e-65 |
PFAM |
|
Pfam:AA_permease
|
51 |
467 |
9.3e-37 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118444
|
| SMART Domains |
Protein: ENSMUSP00000113406
Gene: ENSMUSG00000001802
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
35 |
N/A |
INTRINSIC |
|
CUB
|
43 |
159 |
9.97e-20 |
SMART |
|
LDLa
|
165 |
202 |
7.21e-11 |
SMART |
|
LDLa
|
211 |
251 |
1.37e-11 |
SMART |
|
CUB
|
254 |
365 |
1.98e-3 |
SMART |
|
LDLa
|
367 |
414 |
1.85e-1 |
SMART |
|
LDLa
|
415 |
453 |
4.44e-3 |
SMART |
|
LDLa
|
454 |
490 |
8.74e-10 |
SMART |
|
transmembrane domain
|
497 |
519 |
N/A |
INTRINSIC |
|
low complexity region
|
584 |
606 |
N/A |
INTRINSIC |
|
low complexity region
|
641 |
652 |
N/A |
INTRINSIC |
|
low complexity region
|
674 |
684 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122409
|
| SMART Domains |
Protein: ENSMUSP00000114026
Gene: ENSMUSG00000001802
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
35 |
N/A |
INTRINSIC |
|
CUB
|
64 |
180 |
9.97e-20 |
SMART |
|
LDLa
|
186 |
223 |
7.21e-11 |
SMART |
|
LDLa
|
232 |
272 |
1.37e-11 |
SMART |
|
CUB
|
275 |
386 |
1.98e-3 |
SMART |
|
LDLa
|
388 |
435 |
1.85e-1 |
SMART |
|
LDLa
|
436 |
474 |
4.44e-3 |
SMART |
|
LDLa
|
475 |
511 |
8.74e-10 |
SMART |
|
transmembrane domain
|
518 |
540 |
N/A |
INTRINSIC |
|
low complexity region
|
605 |
627 |
N/A |
INTRINSIC |
|
low complexity region
|
662 |
673 |
N/A |
INTRINSIC |
|
low complexity region
|
695 |
705 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000131048
AA Change: E262G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118331
Gene: ENSMUSG00000030495
AA Change: E262G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
37 |
N/A |
INTRINSIC |
|
Pfam:AA_permease_2
|
46 |
346 |
8.6e-48 |
PFAM |
|
Pfam:AA_permease
|
51 |
346 |
1e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135452
|
| SMART Domains |
Protein: ENSMUSP00000127577
Gene: ENSMUSG00000030495
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
37 |
N/A |
INTRINSIC |
|
Pfam:AA_permease_2
|
46 |
125 |
1.5e-15 |
PFAM |
|
Pfam:AA_permease
|
51 |
125 |
3.9e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146959
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153163
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155404
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167441
|
| SMART Domains |
Protein: ENSMUSP00000129954
Gene: ENSMUSG00000030495
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
37 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9111 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
91% (40/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC7A10, in association with 4F2HC (SLC3A2; MIM 158070), mediates high-affinity transport of D-serine and several other neutral amino acids (Nakauchi et al., 2000 [PubMed 10863037]).[supplied by OMIM, Mar 2008]
PHENOTYPE: A targeted mutation of this gene results in mice that develop tremors, ataxia and seizures. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg8 |
A |
G |
17: 84,999,369 (GRCm39) |
D155G |
probably damaging |
Het |
| Ano4 |
C |
T |
10: 88,790,559 (GRCm39) |
A847T |
probably damaging |
Het |
| B4galt7 |
T |
C |
13: 55,747,959 (GRCm39) |
|
probably benign |
Het |
| Camk1g |
T |
A |
1: 193,038,667 (GRCm39) |
D85V |
probably damaging |
Het |
| Caskin1 |
G |
A |
17: 24,725,602 (GRCm39) |
S1296N |
probably benign |
Het |
| Cebpa |
A |
G |
7: 34,819,687 (GRCm39) |
N282D |
probably damaging |
Het |
| Cngb1 |
G |
A |
8: 95,992,647 (GRCm39) |
T196M |
probably damaging |
Het |
| Cobll1 |
T |
C |
2: 64,929,581 (GRCm39) |
M619V |
probably benign |
Het |
| Coro7 |
A |
T |
16: 4,450,151 (GRCm39) |
I566N |
probably damaging |
Het |
| Dpyd |
A |
T |
3: 119,059,726 (GRCm39) |
S808C |
probably benign |
Het |
| Fbn2 |
A |
G |
18: 58,143,376 (GRCm39) |
V2893A |
probably benign |
Het |
| Gm10801 |
G |
C |
2: 98,494,352 (GRCm39) |
R143T |
possibly damaging |
Het |
| Krba1 |
T |
A |
6: 48,386,685 (GRCm39) |
L441* |
probably null |
Het |
| Lama5 |
T |
C |
2: 179,832,206 (GRCm39) |
T1712A |
possibly damaging |
Het |
| Lnpep |
G |
A |
17: 17,795,569 (GRCm39) |
T314I |
probably damaging |
Het |
| Lyst |
T |
C |
13: 13,871,379 (GRCm39) |
|
probably null |
Het |
| Naa16 |
C |
A |
14: 79,577,473 (GRCm39) |
|
probably null |
Het |
| Nek7 |
A |
T |
1: 138,472,038 (GRCm39) |
F34Y |
probably benign |
Het |
| Or12e7 |
T |
C |
2: 87,288,327 (GRCm39) |
S273P |
possibly damaging |
Het |
| Or2ag17 |
A |
T |
7: 106,390,205 (GRCm39) |
M1K |
probably null |
Het |
| Park7 |
G |
A |
4: 150,991,556 (GRCm39) |
Q45* |
probably null |
Het |
| Pclo |
C |
A |
5: 14,730,447 (GRCm39) |
S2983* |
probably null |
Het |
| Pth1r |
A |
G |
9: 110,556,141 (GRCm39) |
L244P |
possibly damaging |
Het |
| Pyroxd1 |
C |
G |
6: 142,300,467 (GRCm39) |
S199* |
probably null |
Het |
| Slc11a1 |
G |
A |
1: 74,414,437 (GRCm39) |
|
probably benign |
Het |
| Slc12a8 |
T |
G |
16: 33,410,693 (GRCm39) |
S200A |
possibly damaging |
Het |
| Smg1 |
T |
C |
7: 117,795,149 (GRCm39) |
|
probably benign |
Het |
| Snapc4 |
A |
G |
2: 26,255,314 (GRCm39) |
L1070P |
probably damaging |
Het |
| Sp2 |
A |
G |
11: 96,848,300 (GRCm39) |
I435T |
possibly damaging |
Het |
| Srp72 |
A |
G |
5: 77,138,142 (GRCm39) |
E309G |
probably benign |
Het |
| Sympk |
G |
T |
7: 18,777,385 (GRCm39) |
R545L |
possibly damaging |
Het |
| Tie1 |
C |
T |
4: 118,341,039 (GRCm39) |
R314H |
probably benign |
Het |
| Tmem198 |
G |
T |
1: 75,456,351 (GRCm39) |
G2* |
probably null |
Het |
| Tmem81 |
A |
G |
1: 132,435,943 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
T |
2: 76,652,821 (GRCm39) |
V10938E |
possibly damaging |
Het |
| Zfp773 |
T |
A |
7: 7,138,335 (GRCm39) |
Y100F |
probably damaging |
Het |
|
| Other mutations in Slc7a10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01328:Slc7a10
|
APN |
7 |
34,885,917 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02728:Slc7a10
|
APN |
7 |
34,897,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02892:Slc7a10
|
APN |
7 |
34,894,593 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0671:Slc7a10
|
UTSW |
7 |
34,896,758 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1943:Slc7a10
|
UTSW |
7 |
34,899,723 (GRCm39) |
missense |
probably benign |
0.07 |
|
R3743:Slc7a10
|
UTSW |
7 |
34,898,325 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4256:Slc7a10
|
UTSW |
7 |
34,898,140 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4583:Slc7a10
|
UTSW |
7 |
34,897,377 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4749:Slc7a10
|
UTSW |
7 |
34,900,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5023:Slc7a10
|
UTSW |
7 |
34,896,780 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5755:Slc7a10
|
UTSW |
7 |
34,898,336 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6247:Slc7a10
|
UTSW |
7 |
34,886,012 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R6430:Slc7a10
|
UTSW |
7 |
34,897,083 (GRCm39) |
missense |
probably benign |
|
|
R6450:Slc7a10
|
UTSW |
7 |
34,886,015 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6814:Slc7a10
|
UTSW |
7 |
34,894,689 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7026:Slc7a10
|
UTSW |
7 |
34,898,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7110:Slc7a10
|
UTSW |
7 |
34,899,009 (GRCm39) |
missense |
probably benign |
|
|
R7923:Slc7a10
|
UTSW |
7 |
34,894,554 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8000:Slc7a10
|
UTSW |
7 |
34,899,865 (GRCm39) |
missense |
|
|
|
R8680:Slc7a10
|
UTSW |
7 |
34,885,997 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8827:Slc7a10
|
UTSW |
7 |
34,897,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8940:Slc7a10
|
UTSW |
7 |
34,899,875 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9224:Slc7a10
|
UTSW |
7 |
34,894,639 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Slc7a10
|
UTSW |
7 |
34,899,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1186:Slc7a10
|
UTSW |
7 |
34,885,956 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Slc7a10
|
UTSW |
7 |
34,885,956 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TAAAACCAGGGTGGGATCACTG -3'
(R):5'- TTCAAGTCTTTCTGAGGCCC -3'
Sequencing Primer
(F):5'- TGGGATCACTGGAGAGACTTG -3'
(R):5'- AGTCTTTCTGAGGCCCCACAAG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation