Incidental Mutation 'IGL02117:Cryl1'
ID 280419
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 # IGL02117
Quality Score
Status
Chromosome 14
Chromosomal Location 57512491-57635940 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 57523904 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 219 (D219E)
Ref Sequence ENSEMBL: ENSMUSP00000022517 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022517]
AlphaFold Q99KP3
Predicted Effect probably damaging
Transcript: ENSMUST00000022517
AA Change: D219E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022517
Gene: ENSMUSG00000021947
AA Change: D219E

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T A 2: 151,315,466 (GRCm39) M71L probably benign Het
Abcb11 A G 2: 69,154,169 (GRCm39) probably benign Het
Ago4 T C 4: 126,410,645 (GRCm39) T249A probably benign Het
Ahr A T 12: 35,562,922 (GRCm39) C92* probably null Het
Arhgap17 G A 7: 122,885,996 (GRCm39) probably benign Het
Arid1a G T 4: 133,420,126 (GRCm39) T992K unknown Het
Camk2a A G 18: 61,111,061 (GRCm39) I83M probably damaging Het
Ccdc154 T C 17: 25,386,792 (GRCm39) probably null Het
Chtf18 T C 17: 25,941,177 (GRCm39) H607R possibly damaging Het
Col25a1 T C 3: 130,313,422 (GRCm39) probably benign Het
Col9a1 C T 1: 24,276,574 (GRCm39) Q530* probably null Het
Cul3 A T 1: 80,300,781 (GRCm39) probably benign Het
Cul9 C A 17: 46,851,301 (GRCm39) R373L probably benign Het
Exo1 A G 1: 175,721,309 (GRCm39) Y316C possibly damaging Het
Fam114a1 G A 5: 65,187,465 (GRCm39) V408M probably benign Het
Hmcn2 A T 2: 31,347,185 (GRCm39) S4792C possibly damaging Het
Hps5 A G 7: 46,432,940 (GRCm39) F260S probably damaging Het
Hrh4 T C 18: 13,155,477 (GRCm39) S339P probably benign Het
Ist1 A T 8: 110,405,584 (GRCm39) L152Q probably damaging Het
Marco A G 1: 120,418,683 (GRCm39) V190A probably benign Het
Mdn1 T C 4: 32,709,364 (GRCm39) V1711A probably benign Het
Mmp9 A G 2: 164,791,644 (GRCm39) Y179C probably damaging Het
Mrgprb5 A G 7: 47,818,742 (GRCm39) probably benign Het
Mrgprx1 G T 7: 47,671,371 (GRCm39) C125* probably null Het
Msh6 A G 17: 88,298,234 (GRCm39) probably benign Het
Myot C A 18: 44,488,177 (GRCm39) R441S probably benign Het
Or11g7 A G 14: 50,691,399 (GRCm39) R297G possibly damaging Het
Paf1 A G 7: 28,098,115 (GRCm39) probably benign Het
Pde11a A G 2: 75,821,606 (GRCm39) L891P probably damaging Het
Prkar2a T A 9: 108,596,460 (GRCm39) I135N probably damaging Het
Rap1gap C T 4: 137,454,355 (GRCm39) T646M probably damaging Het
Rgs7bp T C 13: 105,088,087 (GRCm39) D229G possibly damaging Het
Rhobtb3 C T 13: 76,025,547 (GRCm39) S523N probably damaging Het
Setd7 A T 3: 51,428,826 (GRCm39) Y335N probably damaging Het
Setdb2 C T 14: 59,639,764 (GRCm39) R709Q probably damaging Het
Socs4 T C 14: 47,528,264 (GRCm39) Y400H probably damaging Het
Spag16 A T 1: 69,909,479 (GRCm39) H192L probably damaging Het
Ssh1 A T 5: 114,084,541 (GRCm39) C566* probably null Het
Stap1 T G 5: 86,234,552 (GRCm39) I98S possibly damaging Het
Tgs1 C T 4: 3,585,836 (GRCm39) H238Y probably damaging Het
Tifab T C 13: 56,324,275 (GRCm39) Y56C probably benign Het
Tssk2 A G 16: 17,717,653 (GRCm39) E352G probably benign Het
Vmn2r57 A T 7: 41,049,874 (GRCm39) V625D probably benign Het
Wbp1l T C 19: 46,632,876 (GRCm39) Y75H probably benign Het
Wnt5a T C 14: 28,228,077 (GRCm39) probably benign Het
Other mutations in Cryl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01081:Cryl1 APN 14 57,523,821 (GRCm39) critical splice donor site probably null
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 2015-04-16