Incidental Mutation 'IGL02749:Cryl1'
ID306219
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cryl1
Ensembl Gene ENSMUSG00000021947
Gene Namecrystallin, lambda 1
SynonymsA230106J09Rik, 1110025H08Rik
Accession Numbers

Genbank: NM_030004; Ensembl: ENSMUST00000089502

Is this an essential gene? Probably non essential (E-score: 0.108) question?
Stock #IGL02749
Quality Score
Status
Chromosome14
Chromosomal Location57274993-57398529 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 57303724 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 168 (T168A)
Ref Sequence ENSEMBL: ENSMUSP00000022517 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022517]
Predicted Effect probably benign
Transcript: ENSMUST00000022517
AA Change: T168A

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000022517
Gene: ENSMUSG00000021947
AA Change: T168A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224292
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830473C10Rik T C 5: 90,571,765 V240A possibly damaging Het
9230104M06Rik T C 12: 113,000,175 D61G probably benign Het
Ascc2 G A 11: 4,640,481 probably null Het
Atrn G T 2: 130,947,734 probably benign Het
Atrn C T 2: 130,970,144 Q670* probably null Het
Calr A C 8: 84,844,488 W236G probably damaging Het
Camk2g T A 14: 20,766,016 probably null Het
Cd101 G T 3: 101,020,399 T122K probably damaging Het
Col4a3bp T A 13: 96,629,135 N469K possibly damaging Het
Diaph3 A G 14: 86,918,825 I684T probably damaging Het
Ednrb A T 14: 103,823,059 M266K possibly damaging Het
Eif4h T C 5: 134,639,292 D3G probably damaging Het
Eny2 C T 15: 44,429,635 R28C possibly damaging Het
Epsti1 A G 14: 77,939,923 E181G probably damaging Het
Ezh2 A G 6: 47,533,764 F598S probably damaging Het
Fat3 G T 9: 16,006,711 T1472K possibly damaging Het
Gabra4 T A 5: 71,638,147 I262F probably benign Het
Gm15448 A G 7: 3,822,625 I415T probably damaging Het
Gpat4 A T 8: 23,180,870 Y109N probably damaging Het
Gpsm1 C T 2: 26,339,675 T36I probably damaging Het
Hikeshi C T 7: 89,935,889 V36I possibly damaging Het
Hip1 T C 5: 135,444,751 M238V probably benign Het
Hnrnpll A T 17: 80,061,991 M1K probably null Het
Irx2 G A 13: 72,631,310 D238N probably damaging Het
Kcnip4 T A 5: 48,409,785 probably benign Het
Lair1 G A 7: 4,028,901 T69I possibly damaging Het
Lamc1 A G 1: 153,249,853 I558T possibly damaging Het
Map4k5 C T 12: 69,815,806 E639K probably benign Het
Mc4r A G 18: 66,859,662 S127P probably damaging Het
Mmp23 A G 4: 155,651,532 M221T possibly damaging Het
Mre11a T C 9: 14,826,591 S587P possibly damaging Het
Myh9 A T 15: 77,807,986 Y124* probably null Het
Nek9 C A 12: 85,305,507 A861S probably benign Het
Nup155 T A 15: 8,134,076 Y576N probably damaging Het
Olfr1128 C T 2: 87,544,657 V296M probably damaging Het
Pcca A T 14: 122,534,388 T8S probably benign Het
Pcdh15 A G 10: 74,631,068 D1573G probably benign Het
Pdpr T A 8: 111,118,090 V373E probably benign Het
Pdzph1 A T 17: 58,932,483 L950Q possibly damaging Het
Prss35 A C 9: 86,756,244 K356Q probably damaging Het
Psg22 A T 7: 18,723,019 T237S possibly damaging Het
Rdh13 A G 7: 4,427,704 Y252H probably damaging Het
Sema3d T C 5: 12,563,145 probably benign Het
Slc35b2 G A 17: 45,566,567 V207I probably benign Het
Sparcl1 T G 5: 104,092,880 E226A possibly damaging Het
Srms C A 2: 181,209,509 A155S possibly damaging Het
Tas2r107 A T 6: 131,659,954 I44N probably damaging Het
Tmem236 C T 2: 14,219,321 T307M probably damaging Het
Ush2a C T 1: 188,946,958 P4788S probably damaging Het
Vmn1r170 A T 7: 23,606,291 L39F probably benign Het
Vmn2r90 T A 17: 17,726,860 *121R probably null Het
Other mutations in Cryl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01081:Cryl1 APN 14 57286364 critical splice donor site probably null
IGL02117:Cryl1 APN 14 57286447 missense probably damaging 1.00
IGL02556:Cryl1 APN 14 57276021 missense probably benign 0.00
IGL03108:Cryl1 APN 14 57313077 missense probably damaging 1.00
G5030:Cryl1 UTSW 14 57342138 intron probably benign
R0391:Cryl1 UTSW 14 57303775 missense possibly damaging 0.94
R2087:Cryl1 UTSW 14 57275945 missense possibly damaging 0.84
R2155:Cryl1 UTSW 14 57398423 missense unknown
R2263:Cryl1 UTSW 14 57286408 nonsense probably null
R2913:Cryl1 UTSW 14 57275918 missense probably benign 0.19
R2914:Cryl1 UTSW 14 57275918 missense probably benign 0.19
R4747:Cryl1 UTSW 14 57313102 missense probably damaging 1.00
R5482:Cryl1 UTSW 14 57313012 missense probably damaging 0.99
R5977:Cryl1 UTSW 14 57382779 missense probably benign 0.02
R6792:Cryl1 UTSW 14 57382767 missense probably damaging 0.97
R7134:Cryl1 UTSW 14 57275499 missense probably benign
R7409:Cryl1 UTSW 14 57286385 missense probably damaging 1.00
R7522:Cryl1 UTSW 14 57275971 missense probably benign
R7653:Cryl1 UTSW 14 57303691 missense probably benign 0.01
R7711:Cryl1 UTSW 14 57275556 missense probably benign 0.01
R7785:Cryl1 UTSW 14 57275481 missense probably benign 0.10
Posted On2015-04-16