Incidental Mutation 'R6430:Slc7a10'
| ID |
518480 |
| 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 |
044568-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.123)
|
| Stock # |
R6430 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
34885810-34900539 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34897083 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 195
(I195V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118331
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001854]
[ENSMUST00000118444]
[ENSMUST00000122409]
[ENSMUST00000131048]
[ENSMUST00000135452]
[ENSMUST00000167441]
|
| AlphaFold |
P63115 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001854
AA Change: I195V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000001854
Gene: ENSMUSG00000030495
AA Change: I195V
| 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 benign
Transcript: ENSMUST00000131048
AA Change: I195V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000118331
Gene: ENSMUSG00000030495
AA Change: I195V
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.7%
|
| Validation Efficiency |
100% (47/47) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AI661453 |
C |
A |
17: 47,777,722 (GRCm39) |
|
probably benign |
Het |
| Ank1 |
T |
A |
8: 23,622,125 (GRCm39) |
L1513Q |
probably damaging |
Het |
| Ap2a1 |
C |
A |
7: 44,553,253 (GRCm39) |
V676L |
probably benign |
Het |
| Arid2 |
T |
C |
15: 96,261,575 (GRCm39) |
V477A |
probably benign |
Het |
| Auh |
C |
A |
13: 53,083,446 (GRCm39) |
G17C |
probably benign |
Het |
| B3gnt7 |
T |
C |
1: 86,233,839 (GRCm39) |
F362L |
possibly damaging |
Het |
| Cd207 |
C |
T |
6: 83,652,869 (GRCm39) |
R87H |
probably benign |
Het |
| Cdyl |
A |
G |
13: 36,055,589 (GRCm39) |
K503R |
possibly damaging |
Het |
| Cep350 |
A |
G |
1: 155,770,419 (GRCm39) |
S1824P |
probably damaging |
Het |
| Cmas |
T |
A |
6: 142,713,650 (GRCm39) |
M225K |
probably benign |
Het |
| Dhx29 |
T |
C |
13: 113,081,153 (GRCm39) |
S396P |
possibly damaging |
Het |
| Epg5 |
T |
C |
18: 78,019,100 (GRCm39) |
S958P |
probably damaging |
Het |
| Espnl |
T |
C |
1: 91,249,970 (GRCm39) |
L39P |
possibly damaging |
Het |
| Fcsk |
A |
G |
8: 111,610,748 (GRCm39) |
V915A |
probably benign |
Het |
| Flacc1 |
T |
A |
1: 58,717,448 (GRCm39) |
K154N |
probably damaging |
Het |
| Gatb |
A |
G |
3: 85,544,345 (GRCm39) |
N438D |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,266,707 (GRCm39) |
C1932R |
probably damaging |
Het |
| Jmjd1c |
C |
T |
10: 67,059,939 (GRCm39) |
T662I |
possibly damaging |
Het |
| Kcng4 |
A |
G |
8: 120,359,789 (GRCm39) |
S196P |
probably damaging |
Het |
| Kcnh7 |
T |
G |
2: 62,680,876 (GRCm39) |
H237P |
probably benign |
Het |
| Klhl38 |
T |
C |
15: 58,185,707 (GRCm39) |
T341A |
probably benign |
Het |
| Klra9 |
G |
T |
6: 130,155,995 (GRCm39) |
Y253* |
probably null |
Het |
| Man2c1 |
T |
C |
9: 57,038,517 (GRCm39) |
V59A |
possibly damaging |
Het |
| Nr2c1 |
A |
T |
10: 94,031,203 (GRCm39) |
H588L |
possibly damaging |
Het |
| Or14a259 |
A |
T |
7: 86,013,181 (GRCm39) |
Y121* |
probably null |
Het |
| Or2j3 |
T |
C |
17: 38,616,249 (GRCm39) |
I34M |
probably benign |
Het |
| Osbpl6 |
A |
G |
2: 76,409,620 (GRCm39) |
E494G |
probably damaging |
Het |
| Per1 |
T |
C |
11: 68,995,122 (GRCm39) |
L638S |
probably damaging |
Het |
| Plekhn1 |
T |
C |
4: 156,306,261 (GRCm39) |
E603G |
probably benign |
Het |
| Prss12 |
A |
T |
3: 123,273,243 (GRCm39) |
S280C |
probably damaging |
Het |
| Pudp |
A |
G |
18: 50,701,307 (GRCm39) |
I142T |
probably benign |
Het |
| Rabl6 |
A |
T |
2: 25,474,849 (GRCm39) |
N620K |
probably damaging |
Het |
| Rttn |
T |
A |
18: 89,039,809 (GRCm39) |
C837S |
probably null |
Het |
| Slc16a7 |
A |
G |
10: 125,066,887 (GRCm39) |
S251P |
probably damaging |
Het |
| Slc9a4 |
A |
T |
1: 40,640,014 (GRCm39) |
R269* |
probably null |
Het |
| Slco6c1 |
T |
A |
1: 97,003,699 (GRCm39) |
Q466L |
probably benign |
Het |
| Smc6 |
A |
G |
12: 11,359,235 (GRCm39) |
N953S |
probably benign |
Het |
| Tex15 |
T |
C |
8: 34,061,329 (GRCm39) |
V527A |
probably benign |
Het |
| Tln2 |
T |
C |
9: 67,179,947 (GRCm39) |
Y808C |
probably damaging |
Het |
| Tmem145 |
T |
C |
7: 25,008,463 (GRCm39) |
L289P |
possibly damaging |
Het |
| Trim3 |
A |
G |
7: 105,267,212 (GRCm39) |
V389A |
probably benign |
Het |
| Vmn1r3 |
G |
A |
4: 3,184,971 (GRCm39) |
T112I |
probably benign |
Het |
| Vps11 |
C |
A |
9: 44,272,847 (GRCm39) |
A28S |
probably benign |
Het |
| Zbtb41 |
T |
A |
1: 139,374,945 (GRCm39) |
S802T |
probably benign |
Het |
| Zmynd10 |
A |
T |
9: 107,425,911 (GRCm39) |
K82* |
probably null |
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 |
|
|
R4638:Slc7a10
|
UTSW |
7 |
34,897,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- CCACTCTACTGGGAGGAAAGTG -3'
(R):5'- AAGGCATTGGTGGGTCTCAG -3'
Sequencing Primer
(F):5'- AGCTGCTGTCACTTGTAACATCAAC -3'
(R):5'- CAGCTCTTCAAAGTGTCCTGGG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation