Incidental Mutation 'R4256:Slc7a10'
| ID |
321820 |
| 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 |
041069-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.123)
|
| Stock # |
R4256 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
34885810-34900539 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 34898140 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 297
(M297I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001854
(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: M297I
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000001854
Gene: ENSMUSG00000030495
AA Change: M297I
| 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 |
possibly damaging
Transcript: ENSMUST00000131048
AA Change: M297I
PolyPhen 2
Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000118331
Gene: ENSMUSG00000030495
AA Change: M297I
| 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 |
0.5132 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
93% (41/44) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578I06Rik |
C |
T |
14: 64,210,658 (GRCm39) |
R190H |
probably benign |
Het |
| Arsi |
T |
C |
18: 61,050,388 (GRCm39) |
W424R |
probably damaging |
Het |
| Atad2 |
A |
G |
15: 57,980,252 (GRCm39) |
S411P |
probably damaging |
Het |
| Cdhr2 |
G |
A |
13: 54,861,818 (GRCm39) |
V72I |
probably damaging |
Het |
| Celf4 |
T |
C |
18: 25,624,258 (GRCm39) |
I414V |
probably damaging |
Het |
| Cfap43 |
G |
A |
19: 47,770,844 (GRCm39) |
T689I |
probably benign |
Het |
| Cpne9 |
C |
T |
6: 113,259,984 (GRCm39) |
|
probably benign |
Het |
| Cyp3a11 |
A |
T |
5: 145,806,005 (GRCm39) |
S121T |
probably benign |
Het |
| Dip2c |
C |
A |
13: 9,659,092 (GRCm39) |
Q864K |
probably damaging |
Het |
| Fbxo3 |
A |
G |
2: 103,881,510 (GRCm39) |
T281A |
probably damaging |
Het |
| Gm5148 |
T |
A |
3: 37,768,758 (GRCm39) |
H154L |
unknown |
Het |
| Gsdma2 |
T |
A |
11: 98,542,758 (GRCm39) |
|
probably null |
Het |
| Hfm1 |
T |
C |
5: 107,052,663 (GRCm39) |
I273M |
possibly damaging |
Het |
| Hspa4l |
A |
G |
3: 40,700,435 (GRCm39) |
E14G |
probably benign |
Het |
| Inava |
G |
T |
1: 136,142,088 (GRCm39) |
N670K |
probably benign |
Het |
| Lgals12 |
T |
G |
19: 7,584,081 (GRCm39) |
E5D |
possibly damaging |
Het |
| Lsg1 |
T |
G |
16: 30,392,061 (GRCm39) |
I237L |
probably benign |
Het |
| Mettl14 |
T |
C |
3: 123,177,254 (GRCm39) |
E49G |
probably damaging |
Het |
| Nbeal1 |
A |
G |
1: 60,370,107 (GRCm39) |
I2675V |
probably benign |
Het |
| Or2y1e |
A |
T |
11: 49,218,304 (GRCm39) |
Q22L |
probably benign |
Het |
| Or4b1b |
A |
T |
2: 90,112,406 (GRCm39) |
V171E |
probably damaging |
Het |
| Or5k15 |
T |
G |
16: 58,710,143 (GRCm39) |
S147R |
probably benign |
Het |
| Padi1 |
A |
T |
4: 140,542,089 (GRCm39) |
L611Q |
probably damaging |
Het |
| Pcdhac2 |
A |
G |
18: 37,277,764 (GRCm39) |
D248G |
probably damaging |
Het |
| Plekhm1 |
C |
A |
11: 103,261,760 (GRCm39) |
R940L |
probably damaging |
Het |
| Rasa3 |
A |
G |
8: 13,664,532 (GRCm39) |
|
probably null |
Het |
| Rspo2 |
C |
A |
15: 42,939,307 (GRCm39) |
R161L |
probably benign |
Het |
| Sacs |
A |
G |
14: 61,443,786 (GRCm39) |
Y1944C |
probably damaging |
Het |
| Spata31e3 |
A |
C |
13: 50,404,141 (GRCm39) |
S54A |
probably benign |
Het |
| Ssh2 |
A |
G |
11: 77,299,009 (GRCm39) |
T112A |
possibly damaging |
Het |
| Ttc7 |
A |
T |
17: 87,628,829 (GRCm39) |
|
probably null |
Het |
| Vmn1r64 |
T |
A |
7: 5,886,895 (GRCm39) |
H216L |
probably benign |
Het |
| Vmn2r112 |
A |
G |
17: 22,837,393 (GRCm39) |
K618R |
probably damaging |
Het |
| Vmp1 |
T |
A |
11: 86,552,014 (GRCm39) |
I117L |
probably benign |
Het |
| Vsnl1 |
A |
T |
12: 11,382,056 (GRCm39) |
Y108* |
probably null |
Het |
| Wdr31 |
A |
G |
4: 62,375,675 (GRCm39) |
|
probably null |
Het |
| Zfp329 |
A |
G |
7: 12,541,840 (GRCm39) |
V284A |
probably benign |
Het |
| Zfp551 |
G |
A |
7: 12,150,318 (GRCm39) |
H364Y |
possibly 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 |
|
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 |
|
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'- TGCTCAGACAGAGGTTTGGG -3'
(R):5'- CCTCCAAAAGTAGAGAGGGC -3'
Sequencing Primer
(F):5'- AGACGGCAGTATGTCCCTG -3'
(R):5'- CCACAGAGACGGGCATGAC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation