Incidental Mutation 'IGL03355:Crym'
ID 419929
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Crym
Ensembl Gene ENSMUSG00000030905
Gene Name crystallin, mu
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03355
Quality Score
Status
Chromosome 7
Chromosomal Location 119785603-119801212 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 119798536 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000033198 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033198] [ENSMUST00000084640]
AlphaFold O54983
PDB Structure Crystal structure of the apo form of mouse Mu-crystallin. [X-RAY DIFFRACTION]
Crystal structure of the NADPH form of mouse Mu-crystallin. [X-RAY DIFFRACTION]
Cristal structure of the NADPH-T3 form of mouse Mu-crystallin. [X-RAY DIFFRACTION]
Predicted Effect probably null
Transcript: ENSMUST00000033198
SMART Domains Protein: ENSMUSP00000033198
Gene: ENSMUSG00000030905

DomainStartEndE-ValueType
Pfam:OCD_Mu_crystall 3 313 7.1e-113 PFAM
Pfam:Shikimate_DH 124 227 7.1e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000084640
SMART Domains Protein: ENSMUSP00000081690
Gene: ENSMUSG00000062017

DomainStartEndE-ValueType
Pfam:ABC2_membrane_3 24 463 5.7e-23 PFAM
AAA 548 729 1.59e-10 SMART
Pfam:ABC2_membrane_3 902 1296 1.2e-36 PFAM
AAA 1384 1568 1.33e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130646
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134067
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134268
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143257
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Crystallins are separated into two classes: taxon-specific and ubiquitous. The former class is also called phylogenetically-restricted crystallins. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. This gene encodes a taxon-specific crystallin protein that binds NADPH and has sequence similarity to bacterial ornithine cyclodeaminases. The encoded protein does not perform a structural role in lens tissue, and instead it binds thyroid hormone for possible regulatory or developmental roles. Mutations in this gene have been associated with autosomal dominant non-syndromic deafness. [provided by RefSeq, Sep 2014]
PHENOTYPE: At the euthyroid state, homozygotes display a normal growth curve, heart rate and hearing ability but have significantly reduced serum concentrations of triiodothyronine (T3) and thyroxine (T4). [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actrt1 T C X: 45,418,624 (GRCm39) V213A probably benign Het
Adam28 A T 14: 68,872,252 (GRCm39) probably benign Het
Apeh T C 9: 107,963,644 (GRCm39) H557R probably benign Het
Atmin T A 8: 117,684,164 (GRCm39) L608* probably null Het
B3gnt5 A T 16: 19,587,903 (GRCm39) M41L probably benign Het
Best3 T C 10: 116,829,010 (GRCm39) F97L possibly damaging Het
Chmp1b2 C A X: 106,831,889 (GRCm39) V180F possibly damaging Het
Col7a1 G A 9: 108,807,228 (GRCm39) V2486M unknown Het
Cubn T C 2: 13,482,868 (GRCm39) probably null Het
Dnah7b A G 1: 46,158,464 (GRCm39) D349G probably benign Het
Eea1 T C 10: 95,878,074 (GRCm39) probably benign Het
Emc1 C T 4: 139,098,904 (GRCm39) probably benign Het
Eps8 T C 6: 137,489,143 (GRCm39) probably benign Het
Ereg A G 5: 91,236,440 (GRCm39) probably benign Het
Faah G A 4: 115,859,725 (GRCm39) P369S probably benign Het
Fam135a A T 1: 24,068,249 (GRCm39) N703K possibly damaging Het
Frmpd1 T C 4: 45,279,140 (GRCm39) S622P probably damaging Het
Gm10030 A G 9: 110,835,841 (GRCm39) noncoding transcript Het
Gpr179 A T 11: 97,228,434 (GRCm39) S1240R possibly damaging Het
Hax1 A T 3: 89,904,754 (GRCm39) H146Q possibly damaging Het
Ift46 A G 9: 44,693,445 (GRCm39) N31D possibly damaging Het
Kel C T 6: 41,675,821 (GRCm39) probably null Het
Khk A T 5: 31,086,904 (GRCm39) I108L probably benign Het
Morc4 T C X: 138,750,431 (GRCm39) N375S probably null Het
Mta3 A T 17: 84,107,474 (GRCm39) probably benign Het
Nacc2 T C 2: 25,952,249 (GRCm39) K369R probably damaging Het
Nkap T C X: 36,403,323 (GRCm39) probably benign Het
Obscn A T 11: 58,928,618 (GRCm39) L6016Q probably damaging Het
Or52e2 T C 7: 102,804,408 (GRCm39) E182G probably damaging Het
Or8c9 A T 9: 38,240,952 (GRCm39) Q20L probably benign Het
Pde4c T A 8: 71,199,244 (GRCm39) L182Q probably damaging Het
Pla2g10 G T 16: 13,548,284 (GRCm39) probably null Het
Rap1gap2 T A 11: 74,303,170 (GRCm39) I426F probably damaging Het
Rbm33 C A 5: 28,596,059 (GRCm39) probably benign Het
Rnf139 C A 15: 58,771,881 (GRCm39) D635E probably benign Het
Sar1a T C 10: 61,520,718 (GRCm39) V15A possibly damaging Het
Scarb1 A C 5: 125,366,766 (GRCm39) S56A probably benign Het
Scn3a T C 2: 65,290,912 (GRCm39) K1945E possibly damaging Het
Sec62 G A 3: 30,864,071 (GRCm39) G118R unknown Het
Sgce T A 6: 4,689,738 (GRCm39) Q356L probably damaging Het
Slco4c1 A T 1: 96,770,232 (GRCm39) Y277* probably null Het
Smarca4 C T 9: 21,547,132 (GRCm39) T219I probably benign Het
Sphkap A T 1: 83,258,224 (GRCm39) I173N probably damaging Het
Spred3 C T 7: 28,860,997 (GRCm39) C394Y unknown Het
Stra6l A G 4: 45,873,689 (GRCm39) D283G probably benign Het
Tipin A T 9: 64,195,406 (GRCm39) Q4L probably benign Het
Tmprss11c T A 5: 86,379,730 (GRCm39) I380F probably benign Het
Tymp T C 15: 89,259,219 (GRCm39) D195G possibly damaging Het
Ugt2b34 T A 5: 87,054,544 (GRCm39) Y79F probably benign Het
Vmn2r16 T A 5: 109,511,580 (GRCm39) S596T possibly damaging Het
Wdhd1 A G 14: 47,481,346 (GRCm39) S1024P possibly damaging Het
Other mutations in Crym
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01562:Crym APN 7 119,794,622 (GRCm39) missense probably damaging 0.98
R0393:Crym UTSW 7 119,788,972 (GRCm39) missense probably benign 0.00
R1538:Crym UTSW 7 119,796,938 (GRCm39) missense probably benign 0.05
R2508:Crym UTSW 7 119,801,050 (GRCm39) missense probably benign 0.08
R3836:Crym UTSW 7 119,800,439 (GRCm39) missense probably benign 0.03
R4328:Crym UTSW 7 119,794,562 (GRCm39) missense probably damaging 1.00
R4723:Crym UTSW 7 119,800,298 (GRCm39) critical splice donor site probably null
R5046:Crym UTSW 7 119,794,667 (GRCm39) missense possibly damaging 0.71
R5122:Crym UTSW 7 119,794,718 (GRCm39) missense probably benign 0.00
R5266:Crym UTSW 7 119,798,517 (GRCm39) missense probably benign 0.00
R5427:Crym UTSW 7 119,798,445 (GRCm39) unclassified probably benign
R5567:Crym UTSW 7 119,801,116 (GRCm39) missense probably benign 0.00
R5570:Crym UTSW 7 119,801,116 (GRCm39) missense probably benign 0.00
R5704:Crym UTSW 7 119,801,163 (GRCm39) splice site probably null
R6835:Crym UTSW 7 119,785,868 (GRCm39) missense probably benign
R7274:Crym UTSW 7 119,789,742 (GRCm39) missense probably benign 0.03
R7536:Crym UTSW 7 119,800,331 (GRCm39) missense probably damaging 1.00
R8062:Crym UTSW 7 119,800,391 (GRCm39) missense probably damaging 1.00
R8281:Crym UTSW 7 119,801,250 (GRCm39) unclassified probably benign
R8940:Crym UTSW 7 119,794,703 (GRCm39) missense probably benign 0.16
R9015:Crym UTSW 7 119,801,090 (GRCm39) missense probably benign
R9324:Crym UTSW 7 119,789,005 (GRCm39) missense probably damaging 0.99
R9740:Crym UTSW 7 119,794,661 (GRCm39) missense probably benign 0.17
Posted On 2016-08-02