Incidental Mutation 'R1333:Ctns'
ID |
156787 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ctns
|
Ensembl Gene |
ENSMUSG00000005949 |
Gene Name |
cystinosis, nephropathic |
Synonyms |
|
MMRRC Submission |
039398-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.116)
|
Stock # |
R1333 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
73074422-73089868 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 73075823 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 342
(T342I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104116
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006103]
[ENSMUST00000040687]
[ENSMUST00000108476]
[ENSMUST00000108477]
|
AlphaFold |
P57757 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000006103
AA Change: T342I
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000006103 Gene: ENSMUSG00000005949 AA Change: T342I
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: ENSMUST00000040687
|
SMART Domains |
Protein: ENSMUSP00000047410 Gene: ENSMUSG00000040158
Domain | Start | End | E-Value | Type |
PDZ
|
27 |
113 |
1.1e-20 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108476
AA Change: T342I
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000104116 Gene: ENSMUSG00000005949 AA Change: T342I
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: ENSMUST00000108477
|
SMART Domains |
Protein: ENSMUSP00000104117 Gene: ENSMUSG00000040158
Domain | Start | End | E-Value | Type |
PDB:3DJ1|B
|
1 |
98 |
6e-63 |
PDB |
SCOP:d1fc6a3
|
24 |
86 |
3e-7 |
SMART |
Blast:PDZ
|
27 |
87 |
6e-33 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130101
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133922
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150407
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 90.3%
|
Validation Efficiency |
98% (41/42) |
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts18 |
A |
G |
8: 114,431,805 (GRCm39) |
|
probably benign |
Het |
Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
Amt |
A |
G |
9: 108,178,296 (GRCm39) |
D301G |
probably benign |
Het |
Arhgef26 |
T |
C |
3: 62,247,744 (GRCm39) |
V276A |
probably benign |
Het |
Bid |
C |
T |
6: 120,874,216 (GRCm39) |
A110T |
possibly damaging |
Het |
Ccdc63 |
T |
C |
5: 122,246,224 (GRCm39) |
T566A |
probably benign |
Het |
Cdk5rap1 |
A |
G |
2: 154,202,574 (GRCm39) |
S219P |
probably damaging |
Het |
Col1a2 |
T |
A |
6: 4,515,684 (GRCm39) |
|
probably null |
Het |
Dst |
G |
A |
1: 34,267,428 (GRCm39) |
E4957K |
probably damaging |
Het |
Elp1 |
C |
T |
4: 56,770,969 (GRCm39) |
|
probably benign |
Het |
Fam163b |
A |
G |
2: 27,003,659 (GRCm39) |
|
probably benign |
Het |
Frem2 |
T |
C |
3: 53,457,152 (GRCm39) |
T2067A |
probably benign |
Het |
Gm7353 |
C |
T |
7: 3,159,066 (GRCm39) |
|
noncoding transcript |
Het |
Gm9791 |
T |
C |
3: 34,059,225 (GRCm39) |
|
noncoding transcript |
Het |
Grik2 |
G |
T |
10: 49,404,087 (GRCm39) |
T258N |
probably damaging |
Het |
Herc3 |
T |
C |
6: 58,864,478 (GRCm39) |
L704P |
probably damaging |
Het |
Hjurp |
A |
C |
1: 88,193,768 (GRCm39) |
V380G |
probably damaging |
Het |
Lrrc56 |
A |
G |
7: 140,778,177 (GRCm39) |
|
probably benign |
Het |
Mast3 |
G |
A |
8: 71,233,938 (GRCm39) |
P187S |
probably damaging |
Het |
Mier2 |
A |
G |
10: 79,380,991 (GRCm39) |
V231A |
probably benign |
Het |
Muc5b |
A |
G |
7: 141,422,144 (GRCm39) |
T4427A |
possibly damaging |
Het |
Nox4 |
A |
G |
7: 86,896,072 (GRCm39) |
S7G |
possibly damaging |
Het |
Obscn |
G |
C |
11: 58,971,143 (GRCm39) |
Q2457E |
probably damaging |
Het |
Sh3bgrl2 |
C |
T |
9: 83,459,684 (GRCm39) |
|
probably benign |
Het |
Slc1a1 |
A |
G |
19: 28,812,611 (GRCm39) |
|
probably benign |
Het |
Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
Stat6 |
G |
C |
10: 127,487,094 (GRCm39) |
R200S |
possibly damaging |
Het |
Stxbp5l |
C |
A |
16: 37,068,231 (GRCm39) |
|
probably null |
Het |
Tanc1 |
A |
G |
2: 59,673,835 (GRCm39) |
S1647G |
probably benign |
Het |
Tmem132d |
T |
A |
5: 127,861,923 (GRCm39) |
M733L |
probably benign |
Het |
Unc13d |
A |
G |
11: 115,964,381 (GRCm39) |
|
probably benign |
Het |
Usp24 |
T |
C |
4: 106,199,550 (GRCm39) |
S165P |
possibly damaging |
Het |
Vmn1r9 |
T |
C |
6: 57,048,615 (GRCm39) |
I230T |
probably damaging |
Het |
Zscan20 |
T |
C |
4: 128,481,889 (GRCm39) |
D591G |
possibly damaging |
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 |
IGL02582:Ctns
|
APN |
11 |
73,087,478 (GRCm39) |
missense |
probably benign |
0.22 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCTCTGGCCTTTGCTGGATACAAC -3'
(R):5'- GCGGTGTGCTCCTCGATTTTACAG -3'
Sequencing Primer
(F):5'- TGGATACAACCTTTCCTACCAGG -3'
(R):5'- TTACAATAATGGTGAGTCCGCCAG -3'
|
Posted On |
2014-02-11 |