Incidental Mutation 'R1125:Ctns'
ID |
96072 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ctns
|
Ensembl Gene |
ENSMUSG00000005949 |
Gene Name |
cystinosis, nephropathic |
Synonyms |
|
MMRRC Submission |
039198-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.116)
|
Stock # |
R1125 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
73074422-73089868 bp(-) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
C to A
at 73078663 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104116
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006103]
[ENSMUST00000006103]
[ENSMUST00000006103]
[ENSMUST00000006103]
[ENSMUST00000108476]
[ENSMUST00000108476]
[ENSMUST00000108476]
[ENSMUST00000108476]
|
AlphaFold |
P57757 |
Predicted Effect |
probably null
Transcript: ENSMUST00000006103
|
SMART Domains |
Protein: ENSMUSP00000006103 Gene: ENSMUSG00000005949
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 null
Transcript: ENSMUST00000006103
|
SMART Domains |
Protein: ENSMUSP00000006103 Gene: ENSMUSG00000005949
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 null
Transcript: ENSMUST00000006103
|
SMART Domains |
Protein: ENSMUSP00000006103 Gene: ENSMUSG00000005949
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 null
Transcript: ENSMUST00000006103
|
SMART Domains |
Protein: ENSMUSP00000006103 Gene: ENSMUSG00000005949
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 null
Transcript: ENSMUST00000108476
|
SMART Domains |
Protein: ENSMUSP00000104116 Gene: ENSMUSG00000005949
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 null
Transcript: ENSMUST00000108476
|
SMART Domains |
Protein: ENSMUSP00000104116 Gene: ENSMUSG00000005949
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 null
Transcript: ENSMUST00000108476
|
SMART Domains |
Protein: ENSMUSP00000104116 Gene: ENSMUSG00000005949
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 null
Transcript: ENSMUST00000108476
|
SMART Domains |
Protein: ENSMUSP00000104116 Gene: ENSMUSG00000005949
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 |
noncoding transcript
Transcript: ENSMUST00000130101
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144658
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150407
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150468
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.6%
|
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: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1cf |
T |
C |
19: 31,898,378 (GRCm39) |
I254T |
probably benign |
Het |
Abcb5 |
T |
C |
12: 118,875,282 (GRCm39) |
D630G |
possibly damaging |
Het |
Anks4b |
T |
G |
7: 119,781,580 (GRCm39) |
F204V |
possibly damaging |
Het |
Bltp3a |
T |
C |
17: 28,112,423 (GRCm39) |
V1204A |
probably damaging |
Het |
C87436 |
T |
C |
6: 86,424,344 (GRCm39) |
V282A |
probably benign |
Het |
Cav3 |
T |
A |
6: 112,449,257 (GRCm39) |
F92I |
probably damaging |
Het |
Cbs |
A |
T |
17: 31,851,805 (GRCm39) |
V66E |
probably benign |
Het |
Cd226 |
A |
G |
18: 89,286,046 (GRCm39) |
I172V |
probably benign |
Het |
Cimip2b |
A |
G |
4: 43,427,550 (GRCm39) |
I258T |
probably damaging |
Het |
Gid4 |
A |
G |
11: 60,315,607 (GRCm39) |
D66G |
possibly damaging |
Het |
Glra3 |
A |
G |
8: 56,492,789 (GRCm39) |
D163G |
possibly damaging |
Het |
Lrrc23 |
A |
G |
6: 124,753,145 (GRCm39) |
V167A |
probably benign |
Het |
Nbea |
A |
T |
3: 55,764,427 (GRCm39) |
L1979* |
probably null |
Het |
Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
Necab1 |
T |
A |
4: 15,111,257 (GRCm39) |
D57V |
probably damaging |
Het |
Or2ag12 |
T |
A |
7: 106,277,214 (GRCm39) |
T160S |
possibly damaging |
Het |
Plekhd1 |
C |
A |
12: 80,753,998 (GRCm39) |
Q155K |
possibly damaging |
Het |
Ppara |
A |
G |
15: 85,673,256 (GRCm39) |
N149S |
possibly damaging |
Het |
Slc30a5 |
C |
T |
13: 100,939,921 (GRCm39) |
V665M |
probably damaging |
Het |
Sntb1 |
T |
G |
15: 55,612,676 (GRCm39) |
T301P |
probably benign |
Het |
Tlr5 |
A |
T |
1: 182,801,457 (GRCm39) |
T240S |
probably benign |
Het |
Ttc5 |
A |
G |
14: 51,015,335 (GRCm39) |
L92P |
probably damaging |
Het |
Ttll10 |
A |
G |
4: 156,119,495 (GRCm39) |
S664P |
possibly damaging |
Het |
Vmn2r45 |
G |
A |
7: 8,488,542 (GRCm39) |
R163C |
probably benign |
Het |
Vmn2r94 |
T |
C |
17: 18,477,717 (GRCm39) |
I231M |
probably 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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCCACCATCCTTTCAAGGCAC -3'
(R):5'- GCCTCCAGGAGAAACCTCTGAAATG -3'
Sequencing Primer
(F):5'- AGGAGAAACTCCTCCTGTTGG -3'
(R):5'- ACCTCTGAAATGGGGGGTG -3'
|
Posted On |
2014-01-05 |