Incidental Mutation 'R5755:Slc7a10'
| ID |
444999 |
| 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 |
043202-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.112)
|
| Stock # |
R5755 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
34885810-34900539 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 34898336 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 336
(I336F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118331
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001854]
[ENSMUST00000118444]
[ENSMUST00000122409]
[ENSMUST00000131048]
[ENSMUST00000135452]
[ENSMUST00000167441]
|
| AlphaFold |
P63115 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001854
AA Change: I336F
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000001854
Gene: ENSMUSG00000030495
AA Change: I336F
| 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: I336F
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000118331
Gene: ENSMUSG00000030495
AA Change: I336F
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
A |
17: 24,617,428 (GRCm39) |
F1042I |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,979,096 (GRCm39) |
T127A |
probably benign |
Het |
| Aloxe3 |
A |
G |
11: 69,023,575 (GRCm39) |
I233V |
probably benign |
Het |
| Ambn |
T |
A |
5: 88,612,350 (GRCm39) |
|
probably null |
Het |
| Atp2b1 |
A |
G |
10: 98,839,032 (GRCm39) |
E39G |
probably damaging |
Het |
| Atp2b1 |
T |
C |
10: 98,830,671 (GRCm39) |
|
probably null |
Het |
| Camsap2 |
C |
T |
1: 136,210,065 (GRCm39) |
G476R |
probably damaging |
Het |
| Cdk4 |
T |
A |
10: 126,900,591 (GRCm39) |
|
probably null |
Het |
| Dcaf12 |
T |
C |
4: 41,313,356 (GRCm39) |
Y63C |
probably damaging |
Het |
| Dtna |
T |
A |
18: 23,754,520 (GRCm39) |
S445T |
probably benign |
Het |
| Ehmt2 |
T |
C |
17: 35,127,214 (GRCm39) |
M109T |
probably benign |
Het |
| Erbb4 |
T |
C |
1: 68,599,678 (GRCm39) |
E133G |
possibly damaging |
Het |
| F830016B08Rik |
T |
A |
18: 60,433,878 (GRCm39) |
F320L |
probably damaging |
Het |
| Fyco1 |
A |
G |
9: 123,657,773 (GRCm39) |
V801A |
possibly damaging |
Het |
| Gm57858 |
A |
T |
3: 36,071,842 (GRCm39) |
M501K |
probably benign |
Het |
| Jag1 |
T |
A |
2: 136,930,610 (GRCm39) |
N674Y |
probably damaging |
Het |
| Kcnj10 |
A |
G |
1: 172,197,161 (GRCm39) |
E225G |
possibly damaging |
Het |
| Klhl11 |
T |
A |
11: 100,355,177 (GRCm39) |
M215L |
probably benign |
Het |
| Kmt2d |
G |
T |
15: 98,761,527 (GRCm39) |
P608T |
unknown |
Het |
| Map3k19 |
T |
C |
1: 127,750,118 (GRCm39) |
M1078V |
probably benign |
Het |
| Neto1 |
T |
C |
18: 86,517,219 (GRCm39) |
V512A |
probably damaging |
Het |
| Notch1 |
T |
C |
2: 26,363,704 (GRCm39) |
D910G |
probably benign |
Het |
| Or1e19 |
T |
A |
11: 73,316,557 (GRCm39) |
N84I |
probably benign |
Het |
| Or2w1 |
T |
A |
13: 21,317,695 (GRCm39) |
I250K |
probably damaging |
Het |
| Parvg |
T |
C |
15: 84,215,297 (GRCm39) |
|
probably null |
Het |
| Pi4kb |
A |
T |
3: 94,901,608 (GRCm39) |
|
probably null |
Het |
| Plag1 |
T |
C |
4: 3,904,492 (GRCm39) |
K233R |
possibly damaging |
Het |
| Polr1h |
T |
A |
17: 37,269,049 (GRCm39) |
D43V |
probably benign |
Het |
| Rasgrp3 |
A |
C |
17: 75,831,940 (GRCm39) |
D587A |
probably benign |
Het |
| Snx8 |
T |
G |
5: 140,338,796 (GRCm39) |
E254A |
possibly damaging |
Het |
| Sp3 |
A |
T |
2: 72,768,725 (GRCm39) |
|
silent |
Het |
| Sp8 |
G |
T |
12: 118,812,822 (GRCm39) |
A226S |
probably damaging |
Het |
| Spata31d1c |
C |
A |
13: 65,184,341 (GRCm39) |
Q628K |
probably benign |
Het |
| Styx |
C |
A |
14: 45,605,910 (GRCm39) |
T138K |
probably benign |
Het |
| Syngr3 |
A |
G |
17: 24,905,509 (GRCm39) |
F155S |
probably damaging |
Het |
| Trip11 |
C |
T |
12: 101,851,924 (GRCm39) |
W428* |
probably null |
Het |
| Ubr4 |
A |
G |
4: 139,187,406 (GRCm39) |
T3825A |
possibly damaging |
Het |
| Vmn2r113 |
A |
T |
17: 23,176,955 (GRCm39) |
T580S |
probably benign |
Het |
| Zbtb11 |
T |
A |
16: 55,821,076 (GRCm39) |
S724R |
probably benign |
Het |
| Zcchc4 |
T |
C |
5: 52,973,511 (GRCm39) |
S379P |
probably benign |
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 |
|
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'- AGGAGTTGCTGTCCTCCAAC -3'
(R):5'- CCAGCTGTCACATTGACCTC -3'
Sequencing Primer
(F):5'- TGTCCTCCAACGCCGTG -3'
(R):5'- CTGGCTTTCTTTACTTCAAGACCAGG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation