Incidental Mutation 'IGL03341:Slc7a14'
| ID |
417227 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc7a14
|
| Ensembl Gene |
ENSMUSG00000069072 |
| Gene Name |
solute carrier family 7 (cationic amino acid transporter, y+ system), member 14 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.161)
|
| Stock # |
IGL03341
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
31257007-31364527 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 31292919 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 122
(Y122C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103880
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091259]
[ENSMUST00000108245]
|
| AlphaFold |
Q8BXR1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091259
AA Change: Y122C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000088803
Gene: ENSMUSG00000069072
AA Change: Y122C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AA_permease_2
|
53 |
443 |
2.1e-44 |
PFAM |
|
Pfam:AA_permease
|
57 |
436 |
7.2e-38 |
PFAM |
|
transmembrane domain
|
563 |
585 |
N/A |
INTRINSIC |
|
transmembrane domain
|
595 |
617 |
N/A |
INTRINSIC |
|
Pfam:AA_permease_C
|
627 |
677 |
9.2e-21 |
PFAM |
|
low complexity region
|
737 |
757 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108245
AA Change: Y122C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103880
Gene: ENSMUSG00000069072
AA Change: Y122C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AA_permease_2
|
53 |
445 |
2.5e-46 |
PFAM |
|
Pfam:AA_permease
|
57 |
437 |
6.9e-41 |
PFAM |
|
transmembrane domain
|
563 |
585 |
N/A |
INTRINSIC |
|
transmembrane domain
|
595 |
617 |
N/A |
INTRINSIC |
|
Pfam:AA_permease_C
|
627 |
668 |
1.4e-17 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is predicted to encode a glycosylated, cationic amino acid transporter protein with 14 transmembrane domains. This gene is primarily expressed in skin fibroblasts, neural tissue, and primary endothelial cells and its protein is predicted to mediate lysosomal uptake of cationic amino acids. Mutations in this gene are associated with autosomal recessive retinitis pigmentosa. In mice, this gene is expressed in the photoreceptor layer of the retina where its expression increases over the course of retinal development and persists in the mature retina. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal eye electrophysiology, thin retinal outer nuclear and decreased total retinal thickness. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930402F06Rik |
C |
T |
2: 35,265,906 (GRCm39) |
V255I |
possibly damaging |
Het |
| Acvrl1 |
T |
A |
15: 101,035,477 (GRCm39) |
N334K |
probably damaging |
Het |
| Arhgef5 |
T |
A |
6: 43,257,585 (GRCm39) |
I1284N |
probably damaging |
Het |
| Asns |
C |
A |
6: 7,682,002 (GRCm39) |
R236L |
probably damaging |
Het |
| Barx2 |
T |
C |
9: 31,770,090 (GRCm39) |
E146G |
probably damaging |
Het |
| Ccl7 |
A |
G |
11: 81,936,661 (GRCm39) |
S18G |
probably benign |
Het |
| Cilp |
A |
T |
9: 65,185,284 (GRCm39) |
T460S |
probably benign |
Het |
| Cpa5 |
A |
G |
6: 30,626,290 (GRCm39) |
Y217C |
possibly damaging |
Het |
| Dgkh |
T |
A |
14: 78,832,931 (GRCm39) |
|
probably benign |
Het |
| Dmc1 |
T |
C |
15: 79,446,746 (GRCm39) |
T276A |
probably benign |
Het |
| Fryl |
G |
A |
5: 73,234,038 (GRCm39) |
P1496S |
probably benign |
Het |
| Gstm2 |
T |
C |
3: 107,891,521 (GRCm39) |
Y93C |
possibly damaging |
Het |
| Hc |
A |
T |
2: 34,893,389 (GRCm39) |
I1274N |
probably damaging |
Het |
| Htra1 |
A |
G |
7: 130,583,444 (GRCm39) |
I355V |
probably benign |
Het |
| Ifi214 |
G |
T |
1: 173,354,082 (GRCm39) |
T196K |
possibly damaging |
Het |
| Ms4a5 |
T |
C |
19: 11,256,742 (GRCm39) |
T52A |
probably benign |
Het |
| Mtx3 |
T |
C |
13: 92,984,391 (GRCm39) |
F191L |
probably damaging |
Het |
| Padi2 |
A |
G |
4: 140,654,424 (GRCm39) |
M192V |
probably benign |
Het |
| Pdcl3 |
C |
A |
1: 39,034,976 (GRCm39) |
Q178K |
probably benign |
Het |
| Rap1gap2 |
G |
A |
11: 74,326,540 (GRCm39) |
R176W |
probably damaging |
Het |
| Ska2 |
A |
G |
11: 87,006,990 (GRCm39) |
T32A |
probably benign |
Het |
| Slc6a18 |
G |
T |
13: 73,826,042 (GRCm39) |
Q3K |
probably benign |
Het |
| Svep1 |
T |
A |
4: 58,070,308 (GRCm39) |
K2493* |
probably null |
Het |
| Trpm6 |
T |
A |
19: 18,790,850 (GRCm39) |
N628K |
probably benign |
Het |
| Ttc17 |
T |
A |
2: 94,205,566 (GRCm39) |
N260I |
probably damaging |
Het |
| Ttc7b |
T |
C |
12: 100,291,994 (GRCm39) |
I193V |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,542,583 (GRCm39) |
T25141S |
possibly damaging |
Het |
| Zfhx4 |
A |
C |
3: 5,476,910 (GRCm39) |
Q3150P |
probably damaging |
Het |
|
| Other mutations in Slc7a14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02631:Slc7a14
|
APN |
3 |
31,292,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02713:Slc7a14
|
APN |
3 |
31,311,912 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03350:Slc7a14
|
APN |
3 |
31,291,558 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL03379:Slc7a14
|
APN |
3 |
31,277,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0064:Slc7a14
|
UTSW |
3 |
31,281,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1549:Slc7a14
|
UTSW |
3 |
31,278,267 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1591:Slc7a14
|
UTSW |
3 |
31,291,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2054:Slc7a14
|
UTSW |
3 |
31,291,511 (GRCm39) |
splice site |
probably benign |
|
|
R2057:Slc7a14
|
UTSW |
3 |
31,291,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2442:Slc7a14
|
UTSW |
3 |
31,284,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2504:Slc7a14
|
UTSW |
3 |
31,291,650 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R3848:Slc7a14
|
UTSW |
3 |
31,291,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4653:Slc7a14
|
UTSW |
3 |
31,311,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4702:Slc7a14
|
UTSW |
3 |
31,284,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5043:Slc7a14
|
UTSW |
3 |
31,291,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5187:Slc7a14
|
UTSW |
3 |
31,291,514 (GRCm39) |
splice site |
probably null |
|
|
R5345:Slc7a14
|
UTSW |
3 |
31,278,006 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5393:Slc7a14
|
UTSW |
3 |
31,311,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5421:Slc7a14
|
UTSW |
3 |
31,278,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5736:Slc7a14
|
UTSW |
3 |
31,278,059 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5771:Slc7a14
|
UTSW |
3 |
31,292,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5896:Slc7a14
|
UTSW |
3 |
31,311,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5996:Slc7a14
|
UTSW |
3 |
31,263,385 (GRCm39) |
missense |
probably benign |
|
|
R6020:Slc7a14
|
UTSW |
3 |
31,278,261 (GRCm39) |
missense |
probably benign |
|
|
R6107:Slc7a14
|
UTSW |
3 |
31,311,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6140:Slc7a14
|
UTSW |
3 |
31,291,697 (GRCm39) |
missense |
probably benign |
|
|
R6491:Slc7a14
|
UTSW |
3 |
31,278,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6846:Slc7a14
|
UTSW |
3 |
31,278,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6990:Slc7a14
|
UTSW |
3 |
31,277,728 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7184:Slc7a14
|
UTSW |
3 |
31,281,212 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7271:Slc7a14
|
UTSW |
3 |
31,278,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7282:Slc7a14
|
UTSW |
3 |
31,281,302 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7331:Slc7a14
|
UTSW |
3 |
31,311,880 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8227:Slc7a14
|
UTSW |
3 |
31,263,361 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8238:Slc7a14
|
UTSW |
3 |
31,281,300 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8524:Slc7a14
|
UTSW |
3 |
31,278,282 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8843:Slc7a14
|
UTSW |
3 |
31,311,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8903:Slc7a14
|
UTSW |
3 |
31,277,595 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9011:Slc7a14
|
UTSW |
3 |
31,278,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9208:Slc7a14
|
UTSW |
3 |
31,281,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9633:Slc7a14
|
UTSW |
3 |
31,278,166 (GRCm39) |
missense |
probably benign |
0.31 |
|
Z1088:Slc7a14
|
UTSW |
3 |
31,278,148 (GRCm39) |
missense |
probably benign |
0.10 |
|
| Posted On |
2016-08-02 |
Incidental Mutation