Incidental Mutation 'R2155:Cryl1'
ID 234746
Institutional Source Beutler Lab
Gene Symbol Cryl1
Ensembl Gene ENSMUSG00000021947
Gene Name crystallin, lambda 1
Synonyms 1110025H08Rik, A230106J09Rik
MMRRC Submission 040158-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # R2155 (G1)
Quality Score 134
Status Not validated
Chromosome 14
Chromosomal Location 57512491-57635940 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 57635880 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 9 (V9A)
Ref Sequence ENSEMBL: ENSMUSP00000022517 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022517]
AlphaFold Q99KP3
Predicted Effect unknown
Transcript: ENSMUST00000022517
AA Change: V9A
SMART Domains Protein: ENSMUSP00000022517
Gene: ENSMUSG00000021947
AA Change: V9A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225765
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610318N02Rik A G 16: 16,939,260 (GRCm39) L41P probably damaging Het
Aff4 C T 11: 53,290,446 (GRCm39) L469F probably damaging Het
AI182371 G A 2: 34,975,366 (GRCm39) H288Y probably benign Het
AK157302 A T 13: 21,679,827 (GRCm39) K118* probably null Het
Arhgef2 G A 3: 88,543,351 (GRCm39) R454Q probably damaging Het
Asb17 C T 3: 153,550,322 (GRCm39) T118M probably damaging Het
Atp7b A G 8: 22,503,600 (GRCm39) V718A possibly damaging Het
Cdca2 A G 14: 67,952,287 (GRCm39) L28S probably damaging Het
Cdh20 G T 1: 109,976,594 (GRCm39) L86F probably damaging Het
Cela2a A T 4: 141,545,350 (GRCm39) probably null Het
Cers3 T A 7: 66,433,162 (GRCm39) Y160N probably damaging Het
Chmp2b A G 16: 65,343,877 (GRCm39) V56A probably benign Het
Dmbt1 A T 7: 130,699,305 (GRCm39) H978L possibly damaging Het
Dnm1 C T 2: 32,204,949 (GRCm39) V673M probably damaging Het
Dtx4 T A 19: 12,462,646 (GRCm39) K378* probably null Het
Extl1 A T 4: 134,090,491 (GRCm39) M328K possibly damaging Het
Fcgbp T C 7: 27,806,628 (GRCm39) S2199P probably benign Het
Glis3 G T 19: 28,508,702 (GRCm39) N427K probably benign Het
Hdac7 T C 15: 97,691,944 (GRCm39) K810E probably benign Het
Hesx1 A G 14: 26,723,434 (GRCm39) E88G probably benign Het
Hmcn2 A T 2: 31,350,361 (GRCm39) Q5086L possibly damaging Het
Ier3 A G 17: 36,133,101 (GRCm39) T128A probably benign Het
Igsf10 G T 3: 59,239,101 (GRCm39) T360K probably damaging Het
Ilkap A C 1: 91,312,345 (GRCm39) C2G possibly damaging Het
Itih1 A G 14: 30,660,028 (GRCm39) F231S probably damaging Het
Jrkl A T 9: 13,244,913 (GRCm39) Y249* probably null Het
Kat6a AGAGGAGGAGGAGGAGGAGGAGGAG AGAGGAGGAGGAGGAGGAGGAG 8: 23,425,663 (GRCm39) probably benign Het
Katnal2 A T 18: 77,098,637 (GRCm39) S184R probably benign Het
Kcnh5 T A 12: 74,945,230 (GRCm39) probably null Het
Kcnj11 G T 7: 45,748,781 (GRCm39) L181I probably damaging Het
Klhl2 T C 8: 65,202,804 (GRCm39) T465A probably benign Het
Krt90 T A 15: 101,471,046 (GRCm39) Y72F probably benign Het
Lig4 G A 8: 10,022,766 (GRCm39) T338I probably benign Het
Lrrc37 T C 11: 103,511,285 (GRCm39) T228A unknown Het
Magel2 T C 7: 62,030,540 (GRCm39) V1148A unknown Het
Mak C A 13: 41,186,020 (GRCm39) E549D probably benign Het
Marf1 G T 16: 13,950,293 (GRCm39) S1001Y probably damaging Het
Mcoln1 G A 8: 3,561,787 (GRCm39) V446I probably damaging Het
Meig1 T C 2: 3,410,290 (GRCm39) N70S probably benign Het
Mfsd14a G A 3: 116,441,479 (GRCm39) T108I probably damaging Het
Mocs1 G A 17: 49,761,386 (GRCm39) M493I probably damaging Het
Mrpl11 C A 19: 5,012,497 (GRCm39) A26E probably damaging Het
Myh6 A T 14: 55,191,251 (GRCm39) D863E probably benign Het
Myom2 T A 8: 15,134,555 (GRCm39) Y453N probably damaging Het
Nhlh1 A G 1: 171,881,524 (GRCm39) I114T probably damaging Het
Odr4 A G 1: 150,258,086 (GRCm39) V183A possibly damaging Het
Or12j4 A C 7: 140,046,504 (GRCm39) H130P probably benign Het
Or2y3 G T 17: 38,393,071 (GRCm39) P266Q probably damaging Het
Or4k5 A T 14: 50,386,154 (GRCm39) M59K probably damaging Het
Or5k17 G T 16: 58,746,486 (GRCm39) F149L probably benign Het
Or5p80 C G 7: 108,229,984 (GRCm39) P262A probably damaging Het
Pclo T C 5: 14,764,309 (GRCm39) S976P probably benign Het
Pde3a G A 6: 141,429,640 (GRCm39) E734K possibly damaging Het
Pdzd2 A T 15: 12,375,879 (GRCm39) S1419T probably benign Het
Pdzd8 T A 19: 59,288,853 (GRCm39) Y849F probably damaging Het
Phldb3 A G 7: 24,312,070 (GRCm39) E128G probably damaging Het
Polg A G 7: 79,111,468 (GRCm39) I261T possibly damaging Het
Ppp1r35 T C 5: 137,778,267 (GRCm39) M254T probably benign Het
Ppp3ca G T 3: 136,596,211 (GRCm39) R292M possibly damaging Het
Ptk7 T A 17: 46,890,543 (GRCm39) T430S probably benign Het
Ptrh1 T A 2: 32,667,040 (GRCm39) N144K possibly damaging Het
Rbfox1 A G 16: 7,111,946 (GRCm39) T211A possibly damaging Het
Rbpjl A G 2: 164,256,343 (GRCm39) D443G possibly damaging Het
Rcc1 A G 4: 132,065,360 (GRCm39) probably null Het
Rimbp2 G T 5: 128,865,229 (GRCm39) S706R probably damaging Het
Rsph10b G C 5: 143,898,074 (GRCm39) E96D probably benign Het
Scn10a A T 9: 119,438,514 (GRCm39) I1784K probably benign Het
Sfxn2 A G 19: 46,579,985 (GRCm39) probably null Het
Slamf6 T A 1: 171,765,575 (GRCm39) L233Q probably damaging Het
Slc17a5 A T 9: 78,484,455 (GRCm39) Y102N probably damaging Het
Slc25a53 T C X: 135,884,216 (GRCm39) T42A probably damaging Het
Slco1a8 T C 6: 141,926,670 (GRCm39) D552G probably damaging Het
Smg7 G A 1: 152,716,064 (GRCm39) T1057I possibly damaging Het
Speer2 T A 16: 69,657,485 (GRCm39) T53S possibly damaging Het
Srm A C 4: 148,676,948 (GRCm39) I100L probably benign Het
Stoml3 A C 3: 53,415,008 (GRCm39) N267H probably damaging Het
Thsd7a A C 6: 12,379,632 (GRCm39) C931G probably damaging Het
Tlr11 A G 14: 50,598,139 (GRCm39) I42V probably benign Het
Tmigd1 T C 11: 76,800,999 (GRCm39) V162A probably benign Het
Tmx3 A G 18: 90,528,505 (GRCm39) probably null Het
Topors T A 4: 40,262,790 (GRCm39) R165W possibly damaging Het
Ttc17 A T 2: 94,196,987 (GRCm39) S453R possibly damaging Het
Vmn1r49 G T 6: 90,049,441 (GRCm39) T187N probably damaging Het
Zbtb49 A T 5: 38,371,464 (GRCm39) V139E possibly damaging Het
Zfp11 T C 5: 129,734,216 (GRCm39) H415R probably damaging Het
Zfp677 A T 17: 21,617,970 (GRCm39) K342N probably benign Het
Zfp979 A C 4: 147,697,915 (GRCm39) C265G possibly damaging Het
Zfpl1 T C 19: 6,134,459 (GRCm39) R9G probably damaging Het
Zkscan8 A T 13: 21,704,759 (GRCm39) C321* probably null Het
Other mutations in Cryl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01081:Cryl1 APN 14 57,523,821 (GRCm39) critical splice donor site probably null
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
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
Predicted Primers PCR Primer
(F):5'- TCTACTGCCAGACTAGCTTCG -3'
(R):5'- AGTGGCCTTCCTGAAGTCTC -3'

Sequencing Primer
(F):5'- TCGGAGCCCAAGTGCGAAG -3'
(R):5'- TGAAGTCTCTCCCCGAGG -3'
Posted On 2014-10-01