Incidental Mutation 'R0335:Crybg3'
ID 26227
Institutional Source Beutler Lab
Gene Symbol Crybg3
Ensembl Gene ENSMUSG00000022723
Gene Name beta-gamma crystallin domain containing 3
Synonyms
MMRRC Submission 038544-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.187) question?
Stock # R0335 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 59490775-59600979 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 59544140 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 2373 (L2373Q)
Ref Sequence ENSEMBL: ENSMUSP00000156047 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044604] [ENSMUST00000139989] [ENSMUST00000172910]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000044604
AA Change: L659Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037682
Gene: ENSMUSG00000022723
AA Change: L659Q

DomainStartEndE-ValueType
low complexity region 258 273 N/A INTRINSIC
low complexity region 282 290 N/A INTRINSIC
XTALbg 430 516 2.78e-4 SMART
Pfam:Crystall 536 599 3.3e-7 PFAM
XTALbg 614 699 1.2e-21 SMART
XTALbg 707 790 5.73e-19 SMART
XTALbg 803 881 6.87e-5 SMART
XTALbg 889 969 1.28e-7 SMART
RICIN 972 1104 8.16e-14 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129350
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139989
SMART Domains Protein: ENSMUSP00000122663
Gene: ENSMUSG00000022723

DomainStartEndE-ValueType
XTALbg 1 86 2.15e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000172910
AA Change: L2373Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000179383
AA Change: L659Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137452
Gene: ENSMUSG00000022723
AA Change: L659Q

DomainStartEndE-ValueType
low complexity region 390 405 N/A INTRINSIC
low complexity region 414 422 N/A INTRINSIC
XTALbg 562 648 2.78e-4 SMART
Pfam:Crystall 668 731 1e-6 PFAM
XTALbg 746 831 1.2e-21 SMART
XTALbg 839 922 5.73e-19 SMART
XTALbg 935 1013 6.87e-5 SMART
XTALbg 1021 1101 1.28e-7 SMART
RICIN 1104 1236 8.16e-14 SMART
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.6%
  • 10x: 94.6%
  • 20x: 87.5%
Validation Efficiency 100% (89/89)
Allele List at MGI
Other mutations in this stock
Total: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3830406C13Rik A G 14: 12,301,266 (GRCm38) E124G possibly damaging Het
4932438A13Rik T C 3: 36,969,152 (GRCm38) V2210A probably damaging Het
Adamts12 G T 15: 11,311,058 (GRCm38) D1134Y possibly damaging Het
Add3 A G 19: 53,236,828 (GRCm38) T460A probably benign Het
Amer3 A C 1: 34,579,300 (GRCm38) probably benign Het
Arhgap22 C T 14: 33,359,108 (GRCm38) probably benign Het
Arhgap32 T G 9: 32,259,760 (GRCm38) S1279A probably benign Het
Bcas1 G A 2: 170,418,681 (GRCm38) T26M probably damaging Het
Begain A T 12: 109,038,934 (GRCm38) F256I probably damaging Het
Cabin1 A T 10: 75,657,049 (GRCm38) I1804N probably damaging Het
Cad G A 5: 31,073,985 (GRCm38) probably benign Het
Carmil1 G A 13: 24,073,983 (GRCm38) S762L probably damaging Het
Ccdc93 T A 1: 121,492,977 (GRCm38) L529Q probably damaging Het
Cdh12 T A 15: 21,578,549 (GRCm38) probably null Het
Clip2 T A 5: 134,535,215 (GRCm38) probably benign Het
Cmip T C 8: 117,445,366 (GRCm38) I480T probably damaging Het
Cnot1 A T 8: 95,772,000 (GRCm38) I203K probably benign Het
Col18a1 G A 10: 77,059,363 (GRCm38) P1155S probably damaging Het
Col1a2 T A 6: 4,531,956 (GRCm38) probably benign Het
D130043K22Rik A T 13: 24,887,877 (GRCm38) I935F probably damaging Het
Dapl1 T A 2: 59,496,594 (GRCm38) D61E possibly damaging Het
Def6 A G 17: 28,228,069 (GRCm38) D558G possibly damaging Het
Dnah6 T C 6: 73,069,399 (GRCm38) probably benign Het
Dvl2 G A 11: 70,001,035 (GRCm38) probably benign Het
Ecd A C 14: 20,320,734 (GRCm38) V639G probably benign Het
Epg5 C T 18: 77,986,472 (GRCm38) T1350M probably benign Het
Erbb4 C A 1: 68,259,259 (GRCm38) M657I probably benign Het
Evi5 T C 5: 107,812,411 (GRCm38) R431G probably benign Het
Fbxo11 G A 17: 88,015,613 (GRCm38) A115V possibly damaging Het
Fgfr2 T C 7: 130,196,249 (GRCm38) T192A probably benign Het
Gas7 C T 11: 67,662,052 (GRCm38) A146V possibly damaging Het
Gatad2b T A 3: 90,356,182 (GRCm38) S529T probably benign Het
Gm10722 G T 9: 3,001,048 (GRCm38) Q41H probably null Het
Gm10801 G C 2: 98,664,007 (GRCm38) R143T possibly damaging Het
Gm7535 A G 17: 17,911,112 (GRCm38) probably benign Het
Gstm1 T A 3: 108,012,696 (GRCm38) N193I possibly damaging Het
Heatr5b G A 17: 78,827,946 (GRCm38) P252L probably benign Het
Hmgb1 A G 5: 149,050,631 (GRCm38) V36A probably benign Het
Hrh1 G T 6: 114,480,232 (GRCm38) W158L probably damaging Het
Ighv6-4 T C 12: 114,406,674 (GRCm38) M53V probably benign Het
Iqgap2 T A 13: 95,635,633 (GRCm38) D1346V probably damaging Het
Kcng3 A T 17: 83,587,737 (GRCm38) N433K possibly damaging Het
Kif1a T A 1: 93,052,566 (GRCm38) probably benign Het
Lctl C A 9: 64,118,887 (GRCm38) Q75K probably benign Het
Ldb3 T A 14: 34,578,651 (GRCm38) I89F possibly damaging Het
Lrrc49 A T 9: 60,677,095 (GRCm38) L156Q probably damaging Het
Mark2 G T 19: 7,281,828 (GRCm38) T83K probably benign Het
Ms4a15 A T 19: 10,980,210 (GRCm38) D170E probably damaging Het
Msantd2 A G 9: 37,522,760 (GRCm38) S99G possibly damaging Het
Nemf G T 12: 69,353,803 (GRCm38) T124N probably benign Het
Nlrp9c A T 7: 26,394,136 (GRCm38) F35I possibly damaging Het
Nwd2 A G 5: 63,804,773 (GRCm38) I567V probably benign Het
Olfr111 A C 17: 37,530,642 (GRCm38) I222L probably benign Het
Olfr1340 A G 4: 118,727,170 (GRCm38) I308V probably null Het
Olfr323 T C 11: 58,625,740 (GRCm38) Y102C probably damaging Het
Olfr828 T A 9: 18,815,994 (GRCm38) Q100L probably damaging Het
Optn C T 2: 5,024,115 (GRCm38) G526R probably damaging Het
Pdk4 T C 6: 5,491,138 (GRCm38) E209G probably benign Het
Plch1 T C 3: 63,710,978 (GRCm38) Q712R probably damaging Het
Pnpla1 T A 17: 28,886,878 (GRCm38) V569E possibly damaging Het
Prkar2a A T 9: 108,719,258 (GRCm38) D134V probably damaging Het
Ptov1 T A 7: 44,864,622 (GRCm38) Q40L possibly damaging Het
Ptprq T C 10: 107,708,728 (GRCm38) I314V probably benign Het
Rabl2 T C 15: 89,583,966 (GRCm38) K66E probably damaging Het
Rnf38 A G 4: 44,152,507 (GRCm38) V19A possibly damaging Het
Scn2a T A 2: 65,682,091 (GRCm38) W191R probably damaging Het
Sec22b T A 3: 97,921,256 (GRCm38) F212I possibly damaging Het
Sec24c T A 14: 20,688,715 (GRCm38) probably null Het
Sept2 T C 1: 93,495,599 (GRCm38) S51P probably damaging Het
Serpinb1a T C 13: 32,848,656 (GRCm38) N90S probably damaging Het
Slc1a2 C T 2: 102,743,863 (GRCm38) T206I probably benign Het
Slc25a19 C A 11: 115,624,206 (GRCm38) R42L probably damaging Het
St14 G A 9: 31,091,324 (GRCm38) probably benign Het
Stxbp1 C T 2: 32,802,905 (GRCm38) probably benign Het
Tas2r131 C T 6: 132,957,829 (GRCm38) V6I probably benign Het
Tdo2 T A 3: 81,964,000 (GRCm38) M235L probably benign Het
Tenm3 T G 8: 48,232,105 (GRCm38) H2432P probably damaging Het
Tmprss15 C T 16: 79,024,742 (GRCm38) probably benign Het
Tmx1 A G 12: 70,453,256 (GRCm38) N30D probably benign Het
Tom1 A G 8: 75,064,392 (GRCm38) probably null Het
Top2a T C 11: 99,022,955 (GRCm38) N20S probably benign Het
Ttc23l T A 15: 10,539,963 (GRCm38) T145S probably benign Het
Unc13b T A 4: 43,236,983 (GRCm38) M3351K possibly damaging Het
Vmn1r47 T C 6: 90,022,659 (GRCm38) S258P probably damaging Het
Vmn2r8 T G 5: 108,797,451 (GRCm38) probably null Het
Vps11 T C 9: 44,353,838 (GRCm38) Q641R probably null Het
Wapl T A 14: 34,692,324 (GRCm38) I381N probably damaging Het
Zmym6 G A 4: 127,122,808 (GRCm38) G794E probably damaging Het
Other mutations in Crybg3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00516:Crybg3 APN 16 59,530,440 (GRCm38) missense probably benign 0.15
IGL01305:Crybg3 APN 16 59,529,227 (GRCm38) missense probably damaging 1.00
IGL01809:Crybg3 APN 16 59,524,853 (GRCm38) critical splice donor site probably benign 0.00
IGL02247:Crybg3 APN 16 59,503,150 (GRCm38) missense probably damaging 1.00
IGL02252:Crybg3 APN 16 59,552,524 (GRCm38) splice site probably benign
IGL03036:Crybg3 APN 16 59,555,179 (GRCm38) missense possibly damaging 0.68
IGL03202:Crybg3 APN 16 59,494,709 (GRCm38) missense probably damaging 1.00
IGL03232:Crybg3 APN 16 59,530,368 (GRCm38) missense probably damaging 1.00
ANU22:Crybg3 UTSW 16 59,529,227 (GRCm38) missense probably damaging 1.00
R0052:Crybg3 UTSW 16 59,565,656 (GRCm38) splice site probably benign
R0691:Crybg3 UTSW 16 59,565,211 (GRCm38) critical splice donor site probably null
R1511:Crybg3 UTSW 16 59,554,112 (GRCm38) missense probably benign 0.01
R1579:Crybg3 UTSW 16 59,530,198 (GRCm38) missense probably damaging 1.00
R1965:Crybg3 UTSW 16 59,503,237 (GRCm38) missense probably damaging 1.00
R1982:Crybg3 UTSW 16 59,544,125 (GRCm38) missense possibly damaging 0.85
R2225:Crybg3 UTSW 16 59,554,678 (GRCm38) missense probably damaging 1.00
R4074:Crybg3 UTSW 16 59,555,757 (GRCm38) unclassified probably benign
R4210:Crybg3 UTSW 16 59,544,051 (GRCm38) missense probably damaging 1.00
R4393:Crybg3 UTSW 16 59,560,095 (GRCm38) unclassified probably benign
R4394:Crybg3 UTSW 16 59,560,095 (GRCm38) unclassified probably benign
R4397:Crybg3 UTSW 16 59,560,095 (GRCm38) unclassified probably benign
R4427:Crybg3 UTSW 16 59,543,199 (GRCm38) missense probably damaging 1.00
R4578:Crybg3 UTSW 16 59,530,201 (GRCm38) missense probably damaging 1.00
R4720:Crybg3 UTSW 16 59,539,817 (GRCm38) missense probably damaging 1.00
R4917:Crybg3 UTSW 16 59,530,419 (GRCm38) missense probably benign 0.14
R5007:Crybg3 UTSW 16 59,558,100 (GRCm38) unclassified probably benign
R5020:Crybg3 UTSW 16 59,554,796 (GRCm38) missense possibly damaging 0.55
R5155:Crybg3 UTSW 16 59,524,901 (GRCm38) missense possibly damaging 0.91
R5306:Crybg3 UTSW 16 59,559,993 (GRCm38) unclassified probably benign
R5342:Crybg3 UTSW 16 59,522,149 (GRCm38) missense probably damaging 1.00
R5687:Crybg3 UTSW 16 59,559,166 (GRCm38) missense probably benign 0.00
R5763:Crybg3 UTSW 16 59,554,610 (GRCm38) missense possibly damaging 0.74
R5860:Crybg3 UTSW 16 59,565,269 (GRCm38) missense probably damaging 1.00
R5950:Crybg3 UTSW 16 59,493,571 (GRCm38) unclassified probably benign
R6007:Crybg3 UTSW 16 59,554,474 (GRCm38) nonsense probably null
R6042:Crybg3 UTSW 16 59,550,475 (GRCm38) missense possibly damaging 0.70
R6049:Crybg3 UTSW 16 59,544,054 (GRCm38) missense probably benign 0.00
R6242:Crybg3 UTSW 16 59,555,690 (GRCm38) missense probably benign
R6301:Crybg3 UTSW 16 59,530,338 (GRCm38) missense probably damaging 1.00
R6408:Crybg3 UTSW 16 59,495,690 (GRCm38) missense possibly damaging 0.71
R6724:Crybg3 UTSW 16 59,544,138 (GRCm38) missense probably benign 0.13
R6745:Crybg3 UTSW 16 59,552,244 (GRCm38) missense possibly damaging 0.93
R6777:Crybg3 UTSW 16 59,558,315 (GRCm38) unclassified probably benign
R6843:Crybg3 UTSW 16 59,559,796 (GRCm38) missense probably benign 0.22
R6914:Crybg3 UTSW 16 59,539,820 (GRCm38) missense possibly damaging 0.89
R6942:Crybg3 UTSW 16 59,539,820 (GRCm38) missense possibly damaging 0.89
R7033:Crybg3 UTSW 16 59,554,165 (GRCm38) missense probably damaging 1.00
R7091:Crybg3 UTSW 16 59,557,168 (GRCm38) missense possibly damaging 0.77
R7133:Crybg3 UTSW 16 59,536,804 (GRCm38) missense probably damaging 1.00
R7193:Crybg3 UTSW 16 59,559,593 (GRCm38) missense possibly damaging 0.87
R7204:Crybg3 UTSW 16 59,558,890 (GRCm38) missense probably benign 0.00
R7398:Crybg3 UTSW 16 59,557,325 (GRCm38) missense probably benign 0.38
R7666:Crybg3 UTSW 16 59,559,337 (GRCm38) nonsense probably null
R7691:Crybg3 UTSW 16 59,556,134 (GRCm38) missense not run
R7714:Crybg3 UTSW 16 59,558,873 (GRCm38) missense probably benign 0.19
R7860:Crybg3 UTSW 16 59,555,242 (GRCm38) missense probably benign 0.04
R7901:Crybg3 UTSW 16 59,557,544 (GRCm38) missense probably damaging 0.98
R8371:Crybg3 UTSW 16 59,557,051 (GRCm38) missense probably benign 0.00
R8394:Crybg3 UTSW 16 59,558,288 (GRCm38) missense probably benign 0.06
R8438:Crybg3 UTSW 16 59,565,292 (GRCm38) missense probably benign 0.02
R8529:Crybg3 UTSW 16 59,556,621 (GRCm38) missense probably damaging 0.98
R8699:Crybg3 UTSW 16 59,554,928 (GRCm38) missense probably damaging 1.00
R8766:Crybg3 UTSW 16 59,555,333 (GRCm38) missense probably benign 0.05
R8767:Crybg3 UTSW 16 59,556,137 (GRCm38) missense probably benign
R8789:Crybg3 UTSW 16 59,554,996 (GRCm38) missense probably benign 0.00
R8871:Crybg3 UTSW 16 59,558,156 (GRCm38) missense probably benign
R8878:Crybg3 UTSW 16 59,560,184 (GRCm38) missense probably benign 0.09
R8894:Crybg3 UTSW 16 59,522,189 (GRCm38) missense probably damaging 0.97
R8928:Crybg3 UTSW 16 59,556,352 (GRCm38) missense probably benign 0.40
R8928:Crybg3 UTSW 16 59,494,760 (GRCm38) missense probably benign 0.31
R8939:Crybg3 UTSW 16 59,556,149 (GRCm38) missense probably benign 0.00
R9010:Crybg3 UTSW 16 59,554,339 (GRCm38) missense probably damaging 0.98
R9266:Crybg3 UTSW 16 59,552,181 (GRCm38) missense probably damaging 0.99
R9348:Crybg3 UTSW 16 59,600,893 (GRCm38) start codon destroyed probably null 0.66
R9353:Crybg3 UTSW 16 59,600,744 (GRCm38) critical splice donor site probably null
R9406:Crybg3 UTSW 16 59,558,476 (GRCm38) missense probably benign 0.42
R9429:Crybg3 UTSW 16 59,555,193 (GRCm38) missense probably benign 0.08
R9464:Crybg3 UTSW 16 59,555,757 (GRCm38) unclassified probably benign
R9621:Crybg3 UTSW 16 59,506,250 (GRCm38) missense possibly damaging 0.73
R9703:Crybg3 UTSW 16 59,555,576 (GRCm38) missense probably damaging 0.96
R9751:Crybg3 UTSW 16 59,557,524 (GRCm38) missense possibly damaging 0.55
R9766:Crybg3 UTSW 16 59,555,844 (GRCm38) missense probably benign 0.03
RF007:Crybg3 UTSW 16 59,556,704 (GRCm38) missense possibly damaging 0.94
Z1177:Crybg3 UTSW 16 59,556,478 (GRCm38) missense probably benign 0.09
Z1177:Crybg3 UTSW 16 59,555,393 (GRCm38) nonsense probably null
Z1187:Crybg3 UTSW 16 59,506,245 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCCTGCTCCTGGAAGTCATACATC -3'
(R):5'- GGCGTTGTTCTTGTGGAGAAATCCC -3'

Sequencing Primer
(F):5'- GGAATCTGTTTTAAGCCAGGAAGTC -3'
(R):5'- TTTACAACACCAGCCCTGTG -3'
Posted On 2013-04-16