Incidental Mutation 'IGL00590:Cystm1'
ID10026
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cystm1
Ensembl Gene ENSMUSG00000046727
Gene Namecysteine-rich transmembrane module containing 1
Synonyms0610010O12Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.100) question?
Stock #IGL00590
Quality Score
Status
Chromosome18
Chromosomal Location36345619-36402980 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 36366675 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Asparagine at position 48 (Y48N)
Ref Sequence ENSEMBL: ENSMUSP00000129683 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050584] [ENSMUST00000139727] [ENSMUST00000144158] [ENSMUST00000152804]
Predicted Effect unknown
Transcript: ENSMUST00000050584
AA Change: Y48N
SMART Domains Protein: ENSMUSP00000051708
Gene: ENSMUSG00000046727
AA Change: Y48N

DomainStartEndE-ValueType
low complexity region 6 66 N/A INTRINSIC
low complexity region 85 100 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000139727
AA Change: Y48N
SMART Domains Protein: ENSMUSP00000115138
Gene: ENSMUSG00000046727
AA Change: Y48N

DomainStartEndE-ValueType
low complexity region 6 62 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000144158
AA Change: Y48N
SMART Domains Protein: ENSMUSP00000114199
Gene: ENSMUSG00000046727
AA Change: Y48N

DomainStartEndE-ValueType
low complexity region 6 66 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145439
Predicted Effect unknown
Transcript: ENSMUST00000152804
AA Change: Y48N
SMART Domains Protein: ENSMUSP00000129683
Gene: ENSMUSG00000046727
AA Change: Y48N

DomainStartEndE-ValueType
low complexity region 6 66 N/A INTRINSIC
low complexity region 83 102 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T G 7: 120,423,815 F58C probably damaging Het
Adgrf5 G T 17: 43,453,147 G1320V probably damaging Het
Akap13 A G 7: 75,610,669 K211E probably benign Het
Akap8l T C 17: 32,333,097 D402G possibly damaging Het
Akna T C 4: 63,371,878 I1198V probably benign Het
Apaf1 T A 10: 91,023,788 I832F probably damaging Het
Cbl A C 9: 44,201,198 L67V probably damaging Het
Chl1 T C 6: 103,693,061 Y471H probably benign Het
Dennd5b T C 6: 149,068,308 T216A probably benign Het
Dpep2 A T 8: 105,988,821 M356K probably damaging Het
Dtymk A G 1: 93,794,724 probably null Het
Fam91a1 A G 15: 58,415,716 D4G possibly damaging Het
Fbxl20 A G 11: 98,093,129 L306P probably damaging Het
Fchsd1 C T 18: 37,965,893 probably benign Het
Fndc1 G A 17: 7,765,101 T1331I unknown Het
Gpatch8 T C 11: 102,480,549 D721G unknown Het
Gsg1 A T 6: 135,244,350 I17N possibly damaging Het
Heyl A G 4: 123,246,630 *327W probably null Het
Kif13b G T 14: 64,779,462 R1359L probably damaging Het
Map3k14 C T 11: 103,237,554 G414S probably damaging Het
Meis2 C T 2: 115,868,793 A330T probably damaging Het
Mrpl9 T C 3: 94,443,696 L61P probably damaging Het
Mrps6 A G 16: 92,099,660 N38D probably benign Het
Muc4 C T 16: 32,754,347 T1407I probably benign Het
Nup107 A G 10: 117,763,803 Y604H probably damaging Het
Pgm2l1 T C 7: 100,255,619 probably null Het
Pisd T C 5: 32,738,412 I441V probably benign Het
Rb1cc1 T C 1: 6,238,296 F52S probably damaging Het
Rnft1 T A 11: 86,495,914 W383R probably damaging Het
Tas2r104 A T 6: 131,685,567 W60R probably damaging Het
Tlr11 A G 14: 50,360,916 T120A probably benign Het
Tmem150b T G 7: 4,723,897 I71L probably benign Het
Zfp296 A G 7: 19,577,835 D89G possibly damaging Het
Other mutations in Cystm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1865:Cystm1 UTSW 18 36366676 missense unknown
R4091:Cystm1 UTSW 18 36366547 missense unknown
R4745:Cystm1 UTSW 18 36393295 intron probably benign
Posted On2012-12-06