Incidental Mutation 'IGL01081:Cryl1'
ID 52662
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cryl1
Ensembl Gene ENSMUSG00000021947
Gene Name crystallin, lambda 1
Synonyms 1110025H08Rik, A230106J09Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # IGL01081
Quality Score
Status
Chromosome 14
Chromosomal Location 57512491-57635940 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 57523821 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000022517 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022517]
AlphaFold Q99KP3
Predicted Effect probably null
Transcript: ENSMUST00000022517
SMART Domains Protein: ENSMUSP00000022517
Gene: ENSMUSG00000021947

DomainStartEndE-ValueType
Pfam:3HCDH_N 8 190 3.4e-53 PFAM
Pfam:3HCDH 192 282 8.9e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223986
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The uronate cycle functions as an alternative glucose metabolic pathway, accounting for about 5% of daily glucose catabolism. The product of this gene catalyzes the dehydrogenation of L-gulonate into dehydro-L-gulonate in the uronate cycle. The enzyme requires NAD(H) as a coenzyme, and is inhibited by inorganic phosphate. A similar gene in the rabbit is thought to serve a structural role in the lens of the eye. [provided by RefSeq, Jul 2008]
Allele List at MGI

All alleles(5) : Targeted, other(2) Gene trapped(3)
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad8 A G 9: 26,901,890 (GRCm39) L158P probably damaging Het
Aco1 A G 4: 40,197,576 (GRCm39) Q860R probably benign Het
Actl11 A T 9: 107,806,181 (GRCm39) Q168L possibly damaging Het
Adam26b T C 8: 43,972,975 (GRCm39) I676V probably benign Het
Aldoart2 A C 12: 55,612,920 (GRCm39) I282L probably benign Het
Capns1 G T 7: 29,889,565 (GRCm39) S211R probably benign Het
Cps1 T C 1: 67,245,983 (GRCm39) V1158A probably damaging Het
Cxcr5 A G 9: 44,425,607 (GRCm39) probably benign Het
Dcaf13 A G 15: 38,982,201 (GRCm39) K56E probably damaging Het
Dlx6 T G 6: 6,867,068 (GRCm39) S85A probably damaging Het
Dsg2 C T 18: 20,722,999 (GRCm39) probably benign Het
Dync1li1 T A 9: 114,549,665 (GRCm39) S412T possibly damaging Het
Ebf3 C A 7: 136,827,625 (GRCm39) probably benign Het
Fads3 T C 19: 10,030,366 (GRCm39) I168T probably benign Het
Gm10295 G A 7: 71,000,296 (GRCm39) P95S unknown Het
Gm43638 T C 5: 87,634,455 (GRCm39) T51A probably damaging Het
Gm5114 G A 7: 39,060,071 (GRCm39) probably benign Het
Gucy2c G A 6: 136,679,737 (GRCm39) T974M probably damaging Het
Ighv1-19-1 T C 12: 114,672,258 (GRCm39) probably benign Het
Kri1 A T 9: 21,191,723 (GRCm39) L173Q probably damaging Het
Lztfl1 T C 9: 123,531,338 (GRCm39) D210G probably benign Het
Morc2a T A 11: 3,638,149 (GRCm39) N958K probably damaging Het
Msl3l2 G A 10: 55,992,021 (GRCm39) A249T probably benign Het
Nlrp4a A G 7: 26,149,254 (GRCm39) E287G probably benign Het
Nlrp9a A T 7: 26,257,519 (GRCm39) N290I possibly damaging Het
Or2b28 T G 13: 21,531,185 (GRCm39) L29R probably damaging Het
Or4e2 A G 14: 52,688,484 (GRCm39) T205A probably benign Het
Or5al6 C T 2: 85,976,955 (GRCm39) G41D probably benign Het
Pcsk7 A G 9: 45,840,005 (GRCm39) D731G probably benign Het
Plppr5 T A 3: 117,480,298 (GRCm39) probably benign Het
Podxl T C 6: 31,505,639 (GRCm39) T135A possibly damaging Het
Pole T G 5: 110,485,106 (GRCm39) C407G possibly damaging Het
Prl C A 13: 27,249,024 (GRCm39) N224K possibly damaging Het
Prnp A T 2: 131,778,340 (GRCm39) probably benign Het
Proser2 A G 2: 6,105,149 (GRCm39) *472R probably null Het
Rhag T C 17: 41,122,178 (GRCm39) S38P possibly damaging Het
Rnf146 T C 10: 29,223,856 (GRCm39) D10G probably damaging Het
Rps3a1 T C 3: 86,049,085 (GRCm39) D29G probably benign Het
Sv2a A T 3: 96,097,012 (GRCm39) I446F probably benign Het
Tbc1d30 C A 10: 121,103,319 (GRCm39) R571L probably damaging Het
Tfrc T A 16: 32,443,646 (GRCm39) probably null Het
Tnfaip1 G A 11: 78,419,129 (GRCm39) P156S probably damaging Het
Vmn1r226 T C 17: 20,908,166 (GRCm39) S133P probably damaging Het
Wnt9b C T 11: 103,622,836 (GRCm39) R189K probably damaging Het
Ythdc2 A G 18: 44,983,726 (GRCm39) H564R probably benign Het
Zfp442 C A 2: 150,251,267 (GRCm39) E211* probably null Het
Other mutations in Cryl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02117:Cryl1 APN 14 57,523,904 (GRCm39) missense probably damaging 1.00
IGL02556:Cryl1 APN 14 57,513,478 (GRCm39) missense probably benign 0.00
IGL02749:Cryl1 APN 14 57,541,181 (GRCm39) missense probably benign 0.03
IGL03108:Cryl1 APN 14 57,550,534 (GRCm39) missense probably damaging 1.00
G5030:Cryl1 UTSW 14 57,579,595 (GRCm39) intron probably benign
R0391:Cryl1 UTSW 14 57,541,232 (GRCm39) missense possibly damaging 0.94
R2087:Cryl1 UTSW 14 57,513,402 (GRCm39) missense possibly damaging 0.84
R2155:Cryl1 UTSW 14 57,635,880 (GRCm39) missense unknown
R2263:Cryl1 UTSW 14 57,523,865 (GRCm39) nonsense probably null
R2913:Cryl1 UTSW 14 57,513,375 (GRCm39) missense probably benign 0.19
R2914:Cryl1 UTSW 14 57,513,375 (GRCm39) missense probably benign 0.19
R4747:Cryl1 UTSW 14 57,550,559 (GRCm39) missense probably damaging 1.00
R5482:Cryl1 UTSW 14 57,550,469 (GRCm39) missense probably damaging 0.99
R5977:Cryl1 UTSW 14 57,620,236 (GRCm39) missense probably benign 0.02
R6792:Cryl1 UTSW 14 57,620,224 (GRCm39) missense probably damaging 0.97
R7134:Cryl1 UTSW 14 57,512,956 (GRCm39) missense probably benign
R7409:Cryl1 UTSW 14 57,523,842 (GRCm39) missense probably damaging 1.00
R7522:Cryl1 UTSW 14 57,513,428 (GRCm39) missense probably benign
R7653:Cryl1 UTSW 14 57,541,148 (GRCm39) missense probably benign 0.01
R7711:Cryl1 UTSW 14 57,513,013 (GRCm39) missense probably benign 0.01
R7785:Cryl1 UTSW 14 57,512,938 (GRCm39) missense probably benign 0.10
Posted On 2013-06-21