Incidental Mutation 'IGL02819:Cys1'
ID 360900
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cys1
Ensembl Gene ENSMUSG00000062563
Gene Name cystin 1
Synonyms 2900006B19Rik, ck
Accession Numbers
Essential gene? Not available question?
Stock # IGL02819
Quality Score
Status
Chromosome 12
Chromosomal Location 24715832-24731794 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24717169 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 132 (E132G)
Ref Sequence ENSEMBL: ENSMUSP00000141121 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020982] [ENSMUST00000074163] [ENSMUST00000156453] [ENSMUST00000163514] [ENSMUST00000172771] [ENSMUST00000173145] [ENSMUST00000186602] [ENSMUST00000189849]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000020982
SMART Domains Protein: ENSMUSP00000020982
Gene: ENSMUSG00000020653

DomainStartEndE-ValueType
low complexity region 267 275 N/A INTRINSIC
low complexity region 356 367 N/A INTRINSIC
ZnF_C2H2 384 408 5.9e-3 SMART
ZnF_C2H2 414 438 9.22e-5 SMART
ZnF_C2H2 444 466 1.38e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000074163
AA Change: E132G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000073796
Gene: ENSMUSG00000062563
AA Change: E132G

DomainStartEndE-ValueType
low complexity region 2 21 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148477
Predicted Effect possibly damaging
Transcript: ENSMUST00000156453
AA Change: E132G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000134522
Gene: ENSMUSG00000062563
AA Change: E132G

DomainStartEndE-ValueType
low complexity region 2 21 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000163514
AA Change: E132G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000126787
Gene: ENSMUSG00000062563
AA Change: E132G

DomainStartEndE-ValueType
low complexity region 2 21 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000172771
Predicted Effect possibly damaging
Transcript: ENSMUST00000173145
AA Change: E132G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000133902
Gene: ENSMUSG00000062563
AA Change: E132G

DomainStartEndE-ValueType
low complexity region 2 21 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000186602
AA Change: E132G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000140759
Gene: ENSMUSG00000062563
AA Change: E132G

DomainStartEndE-ValueType
low complexity region 2 21 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000189849
AA Change: E132G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000141121
Gene: ENSMUSG00000062563
AA Change: E132G

DomainStartEndE-ValueType
low complexity region 2 21 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous mutant mice display kidneys cysts, enlarged kidneys that distend the abdomen, increased blood urea nitrogen, and die shortly before or soon after weaning. On some strain backgrounds pancreatic and hepatic cysts and fibrosis are also seen. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833439L19Rik C T 13: 54,712,033 (GRCm39) probably benign Het
Abcb8 T A 5: 24,611,422 (GRCm39) N470K probably benign Het
Adamtsl3 A T 7: 82,223,329 (GRCm39) N1037Y probably damaging Het
Adcy3 T C 12: 4,256,986 (GRCm39) probably benign Het
Ankrd35 A G 3: 96,597,524 (GRCm39) D983G possibly damaging Het
Asf1a A G 10: 53,483,920 (GRCm39) T118A probably benign Het
Atp2a3 T C 11: 72,868,033 (GRCm39) Y389H probably damaging Het
Atp5f1b T C 10: 127,919,821 (GRCm39) I63T probably damaging Het
C2cd5 A G 6: 143,028,946 (GRCm39) Y98H probably benign Het
Caprin2 A G 6: 148,749,756 (GRCm39) V518A probably damaging Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Clcn2 C A 16: 20,528,006 (GRCm39) E487* probably null Het
Cog6 T A 3: 52,916,966 (GRCm39) K184M probably damaging Het
Cpn1 A G 19: 43,956,907 (GRCm39) Y286H probably damaging Het
Cpne9 A T 6: 113,277,624 (GRCm39) S448C probably damaging Het
Csnk2a1 G T 2: 152,116,005 (GRCm39) probably benign Het
Depdc7 T C 2: 104,555,071 (GRCm39) M280V probably benign Het
Fhad1 C T 4: 141,646,069 (GRCm39) D298N probably benign Het
Golga1 T A 2: 38,929,090 (GRCm39) N318Y probably null Het
Hsd3b6 A G 3: 98,718,262 (GRCm39) V34A probably benign Het
Krt9 A G 11: 100,082,346 (GRCm39) I193T probably damaging Het
Lama4 A T 10: 38,902,565 (GRCm39) I180F possibly damaging Het
Lamc1 T C 1: 153,126,407 (GRCm39) T458A probably damaging Het
Lin28b A T 10: 45,346,155 (GRCm39) M1K probably null Het
Myo16 T C 8: 10,372,600 (GRCm39) C100R probably damaging Het
Nt5c3 A T 6: 56,860,718 (GRCm39) M279K probably damaging Het
Ppfia2 A G 10: 106,742,255 (GRCm39) Y1016C probably damaging Het
Rpl6 A G 5: 121,345,264 (GRCm39) probably benign Het
Rpn2 G T 2: 157,158,130 (GRCm39) probably null Het
Rspry1 T C 8: 95,380,884 (GRCm39) V396A probably benign Het
Serpina3i C T 12: 104,234,761 (GRCm39) T364I probably damaging Het
Shprh A G 10: 11,030,509 (GRCm39) K242R possibly damaging Het
Slit3 A G 11: 35,062,417 (GRCm39) N72S possibly damaging Het
Syt17 G A 7: 118,009,143 (GRCm39) probably benign Het
Tatdn3 C A 1: 190,787,541 (GRCm39) A114S probably benign Het
Tjp2 A G 19: 24,091,469 (GRCm39) V564A probably damaging Het
Tmem117 T C 15: 94,777,253 (GRCm39) probably benign Het
Tnfrsf8 T C 4: 144,995,703 (GRCm39) E452G probably damaging Het
Tns1 T C 1: 73,976,407 (GRCm39) D1147G probably damaging Het
Traf6 T C 2: 101,515,134 (GRCm39) S97P probably damaging Het
Ttc28 A T 5: 111,414,449 (GRCm39) E1321D probably benign Het
Other mutations in Cys1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R7575:Cys1 UTSW 12 24,718,647 (GRCm39) nonsense probably null
R8371:Cys1 UTSW 12 24,718,694 (GRCm39) missense probably benign 0.01
R8804:Cys1 UTSW 12 24,718,610 (GRCm39) missense unknown
Posted On 2015-12-18