Incidental Mutation 'IGL02582:Ctns'
ID |
299404 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ctns
|
Ensembl Gene |
ENSMUSG00000005949 |
Gene Name |
cystinosis, nephropathic |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.116)
|
Stock # |
IGL02582
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
73074422-73089868 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 73087478 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 16
(F16S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104116
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006103]
[ENSMUST00000006105]
[ENSMUST00000108476]
[ENSMUST00000131927]
|
AlphaFold |
P57757 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000006103
AA Change: F16S
PolyPhen 2
Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000006103 Gene: ENSMUSG00000005949 AA Change: F16S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
CTNS
|
140 |
171 |
6.43e-12 |
SMART |
transmembrane domain
|
206 |
225 |
N/A |
INTRINSIC |
transmembrane domain
|
238 |
257 |
N/A |
INTRINSIC |
CTNS
|
279 |
310 |
1.47e-6 |
SMART |
transmembrane domain
|
338 |
357 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000006105
|
SMART Domains |
Protein: ENSMUSP00000006105 Gene: ENSMUSG00000005951
Domain | Start | End | E-Value | Type |
Pfam:FGGY_N
|
6 |
264 |
3.4e-25 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108476
AA Change: F16S
PolyPhen 2
Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000104116 Gene: ENSMUSG00000005949 AA Change: F16S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
CTNS
|
140 |
171 |
6.43e-12 |
SMART |
transmembrane domain
|
206 |
225 |
N/A |
INTRINSIC |
transmembrane domain
|
238 |
257 |
N/A |
INTRINSIC |
CTNS
|
279 |
310 |
1.47e-6 |
SMART |
transmembrane domain
|
338 |
357 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000131927
|
SMART Domains |
Protein: ENSMUSP00000123639 Gene: ENSMUSG00000005951
Domain | Start | End | E-Value | Type |
Pfam:FGGY_N
|
6 |
109 |
3.7e-14 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144658
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150468
|
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 encodes a seven-transmembrane domain protein that functions to transport cystine out of lysosomes. Its activity is driven by the H+ electrochemical gradient of the lysosomal membrane. Mutations in this gene cause cystinosis, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009] PHENOTYPE: Homozygotes for a targeted null mutation exhibit increased intracellular cystine, progressive accumulation of cystine crystals, occasional muscle impairment, reduced exploratory activity, osteoporosis, and lowered electroretinogram amplitude. [provided by MGI curators]
|
Allele List at MGI |
All alleles(2) : Targeted(2)
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acat1 |
T |
A |
9: 53,506,045 (GRCm39) |
I92F |
probably benign |
Het |
Actr3b |
A |
G |
5: 26,037,411 (GRCm39) |
I208V |
probably benign |
Het |
Car12 |
T |
C |
9: 66,621,159 (GRCm39) |
V10A |
probably benign |
Het |
Ccdc171 |
C |
A |
4: 83,661,255 (GRCm39) |
R1122S |
probably damaging |
Het |
Cep97 |
A |
G |
16: 55,742,539 (GRCm39) |
V136A |
probably damaging |
Het |
Cilp2 |
G |
T |
8: 70,333,936 (GRCm39) |
Q1021K |
probably damaging |
Het |
Col24a1 |
C |
A |
3: 145,020,247 (GRCm39) |
T206N |
probably damaging |
Het |
Crebbp |
A |
T |
16: 3,902,141 (GRCm39) |
I2328K |
possibly damaging |
Het |
Dbf4 |
T |
C |
5: 8,453,172 (GRCm39) |
K276E |
probably benign |
Het |
Dnase2b |
T |
A |
3: 146,294,840 (GRCm39) |
Q118L |
probably benign |
Het |
Elf1 |
T |
C |
14: 79,773,819 (GRCm39) |
L10P |
probably damaging |
Het |
Exosc5 |
T |
C |
7: 25,364,988 (GRCm39) |
|
probably null |
Het |
Fam163b |
C |
T |
2: 27,003,570 (GRCm39) |
C28Y |
probably damaging |
Het |
Fam180a |
G |
T |
6: 35,290,647 (GRCm39) |
A112E |
possibly damaging |
Het |
Fam3b |
A |
T |
16: 97,272,391 (GRCm39) |
Y89* |
probably null |
Het |
Gcg |
C |
T |
2: 62,308,922 (GRCm39) |
W77* |
probably null |
Het |
Gm17472 |
G |
A |
6: 42,957,832 (GRCm39) |
V34I |
possibly damaging |
Het |
Klhl23 |
T |
A |
2: 69,654,582 (GRCm39) |
C151S |
probably damaging |
Het |
Mdh1b |
T |
A |
1: 63,758,756 (GRCm39) |
I279F |
probably benign |
Het |
Mfsd11 |
T |
A |
11: 116,764,701 (GRCm39) |
I375N |
probably damaging |
Het |
Mroh2b |
T |
A |
15: 4,937,997 (GRCm39) |
I206N |
probably damaging |
Het |
Myo1b |
T |
C |
1: 51,821,133 (GRCm39) |
E456G |
possibly damaging |
Het |
Nat8 |
G |
A |
6: 85,807,783 (GRCm39) |
Q117* |
probably null |
Het |
Nlrp4g |
A |
C |
9: 124,349,764 (GRCm38) |
|
noncoding transcript |
Het |
Nmt1 |
G |
T |
11: 102,955,625 (GRCm39) |
G468C |
possibly damaging |
Het |
Nobox |
G |
T |
6: 43,281,973 (GRCm39) |
Q367K |
possibly damaging |
Het |
Nusap1 |
A |
G |
2: 119,479,470 (GRCm39) |
*428W |
probably null |
Het |
Or12j4 |
T |
C |
7: 140,046,560 (GRCm39) |
F149L |
probably benign |
Het |
Or4c126 |
G |
A |
2: 89,824,656 (GRCm39) |
M306I |
probably benign |
Het |
Pbp2 |
T |
C |
6: 135,287,147 (GRCm39) |
I67V |
probably benign |
Het |
Pcdhb8 |
T |
G |
18: 37,488,427 (GRCm39) |
M35R |
possibly damaging |
Het |
Pkp1 |
T |
C |
1: 135,817,664 (GRCm39) |
E157G |
probably damaging |
Het |
Pomgnt1 |
C |
T |
4: 116,015,747 (GRCm39) |
L560F |
probably damaging |
Het |
Prkcz |
T |
C |
4: 155,355,713 (GRCm39) |
T227A |
probably damaging |
Het |
Ptprd |
T |
A |
4: 75,865,361 (GRCm39) |
R1446S |
probably damaging |
Het |
Ptprq |
T |
C |
10: 107,479,860 (GRCm39) |
T1137A |
probably benign |
Het |
Sec22c |
T |
C |
9: 121,514,630 (GRCm39) |
I153V |
probably benign |
Het |
Slc30a5 |
C |
T |
13: 100,949,155 (GRCm39) |
|
probably null |
Het |
Smcr8 |
T |
C |
11: 60,669,721 (GRCm39) |
S290P |
probably benign |
Het |
Stambpl1 |
T |
G |
19: 34,212,612 (GRCm39) |
L261V |
probably benign |
Het |
Stk38l |
T |
C |
6: 146,668,321 (GRCm39) |
|
probably null |
Het |
Themis |
T |
C |
10: 28,637,543 (GRCm39) |
F216L |
probably benign |
Het |
Trmt1l |
T |
C |
1: 151,309,536 (GRCm39) |
|
probably benign |
Het |
Usp17lb |
C |
A |
7: 104,489,937 (GRCm39) |
C330F |
probably damaging |
Het |
Vmn2r120 |
A |
T |
17: 57,831,724 (GRCm39) |
L355H |
probably damaging |
Het |
Zc3h7b |
T |
A |
15: 81,653,341 (GRCm39) |
C82S |
probably benign |
Het |
|
Other mutations in Ctns |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01448:Ctns
|
APN |
11 |
73,079,548 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0103:Ctns
|
UTSW |
11 |
73,076,137 (GRCm39) |
missense |
probably damaging |
1.00 |
R1125:Ctns
|
UTSW |
11 |
73,078,663 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1333:Ctns
|
UTSW |
11 |
73,075,823 (GRCm39) |
missense |
probably benign |
0.03 |
R1422:Ctns
|
UTSW |
11 |
73,076,072 (GRCm39) |
missense |
probably damaging |
1.00 |
R1621:Ctns
|
UTSW |
11 |
73,079,298 (GRCm39) |
missense |
possibly damaging |
0.72 |
R2104:Ctns
|
UTSW |
11 |
73,083,907 (GRCm39) |
missense |
probably benign |
0.07 |
R2427:Ctns
|
UTSW |
11 |
73,087,512 (GRCm39) |
missense |
probably damaging |
1.00 |
R4096:Ctns
|
UTSW |
11 |
73,077,212 (GRCm39) |
missense |
probably benign |
0.11 |
R4946:Ctns
|
UTSW |
11 |
73,087,479 (GRCm39) |
missense |
probably benign |
|
R6220:Ctns
|
UTSW |
11 |
73,083,954 (GRCm39) |
missense |
probably benign |
0.00 |
R6307:Ctns
|
UTSW |
11 |
73,082,559 (GRCm39) |
missense |
probably benign |
0.26 |
R6744:Ctns
|
UTSW |
11 |
73,076,111 (GRCm39) |
missense |
probably damaging |
1.00 |
R7064:Ctns
|
UTSW |
11 |
73,077,218 (GRCm39) |
missense |
probably benign |
0.19 |
R7402:Ctns
|
UTSW |
11 |
73,083,903 (GRCm39) |
missense |
possibly damaging |
0.51 |
R7583:Ctns
|
UTSW |
11 |
73,079,296 (GRCm39) |
missense |
probably benign |
0.44 |
R8071:Ctns
|
UTSW |
11 |
73,075,760 (GRCm39) |
missense |
probably damaging |
1.00 |
R8072:Ctns
|
UTSW |
11 |
73,082,572 (GRCm39) |
missense |
probably benign |
0.00 |
R8726:Ctns
|
UTSW |
11 |
73,078,613 (GRCm39) |
missense |
probably benign |
0.18 |
R9098:Ctns
|
UTSW |
11 |
73,078,561 (GRCm39) |
critical splice donor site |
probably null |
|
R9203:Ctns
|
UTSW |
11 |
73,082,563 (GRCm39) |
missense |
probably benign |
0.01 |
|
Posted On |
2015-04-16 |