Incidental Mutation 'IGL01287:Crybg1'
ID72769
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Crybg1
Ensembl Gene ENSMUSG00000019866
Gene Namecrystallin beta-gamma domain containing 1
SynonymsAim1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01287
Quality Score
Status
Chromosome10
Chromosomal Location43950636-44148853 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 43992494 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 1396 (R1396H)
Ref Sequence ENSEMBL: ENSMUSP00000143429 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020017] [ENSMUST00000200401]
Predicted Effect probably benign
Transcript: ENSMUST00000020017
AA Change: R1022H

PolyPhen 2 Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000020017
Gene: ENSMUSG00000019866
AA Change: R1022H

DomainStartEndE-ValueType
low complexity region 3 16 N/A INTRINSIC
low complexity region 114 121 N/A INTRINSIC
low complexity region 176 192 N/A INTRINSIC
low complexity region 436 453 N/A INTRINSIC
low complexity region 507 518 N/A INTRINSIC
low complexity region 544 557 N/A INTRINSIC
low complexity region 837 857 N/A INTRINSIC
XTALbg 995 1078 8.57e-9 SMART
XTALbg 1094 1175 4.73e-20 SMART
XTALbg 1189 1282 1.23e-32 SMART
XTALbg 1290 1373 9.3e-28 SMART
XTALbg 1386 1465 1.66e-24 SMART
XTALbg 1473 1553 5.29e-32 SMART
RICIN 1556 1689 5.86e-15 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000200401
AA Change: R1396H

PolyPhen 2 Score 0.531 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000143429
Gene: ENSMUSG00000019866
AA Change: R1396H

DomainStartEndE-ValueType
low complexity region 377 390 N/A INTRINSIC
low complexity region 488 495 N/A INTRINSIC
low complexity region 550 566 N/A INTRINSIC
low complexity region 810 827 N/A INTRINSIC
low complexity region 881 892 N/A INTRINSIC
low complexity region 918 931 N/A INTRINSIC
low complexity region 1211 1231 N/A INTRINSIC
XTALbg 1369 1452 5.4e-11 SMART
XTALbg 1468 1549 2.9e-22 SMART
XTALbg 1563 1656 7.9e-35 SMART
XTALbg 1664 1747 6e-30 SMART
XTALbg 1760 1839 1.1e-26 SMART
XTALbg 1847 1927 3.3e-34 SMART
RICIN 1930 2063 3.3e-17 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik T C 9: 57,257,757 K445E probably damaging Het
1700061G19Rik C T 17: 56,882,203 Q204* probably null Het
Abca15 A T 7: 120,332,858 probably benign Het
Acvr1c A T 2: 58,280,242 C371* probably null Het
AI464131 T A 4: 41,498,923 I236F possibly damaging Het
Brs3 T C X: 57,047,367 probably benign Het
Car14 C T 3: 95,899,559 V198M possibly damaging Het
Cenpc1 G A 5: 86,022,454 R704* probably null Het
Cubn A G 2: 13,310,566 S3019P probably damaging Het
Cyp2j9 T C 4: 96,583,428 E222G probably benign Het
Defb50 C A 8: 21,831,171 T59K probably benign Het
Dlg3 T C X: 100,807,242 I587T possibly damaging Het
Doc2a C T 7: 126,851,001 R204C probably damaging Het
Galc T C 12: 98,246,244 probably benign Het
Gm8257 A T 14: 44,655,343 F67I probably damaging Het
Hnrnpul1 A T 7: 25,726,898 N509K probably damaging Het
Iars2 T A 1: 185,296,428 I678F possibly damaging Het
Ifit1 A G 19: 34,648,133 E223G possibly damaging Het
Krt81 G A 15: 101,463,388 H104Y probably benign Het
Lrp4 C A 2: 91,473,948 D157E probably damaging Het
Ltk T A 2: 119,755,705 T21S probably benign Het
Lvrn A T 18: 46,864,666 probably benign Het
Maob G A X: 16,712,642 A424V probably damaging Het
Myo1g C A 11: 6,515,856 V410F possibly damaging Het
Naxe T C 3: 88,056,674 H250R probably damaging Het
Nek5 T C 8: 22,111,183 N174S possibly damaging Het
Olfr1158 A G 2: 87,990,944 T278A probably benign Het
Olfr131 G T 17: 38,082,107 N290K probably damaging Het
Olfr606 C T 7: 103,451,795 R153W probably damaging Het
Pex1 A G 5: 3,606,027 T285A probably benign Het
Pfas A G 11: 69,001,260 S141P probably benign Het
Pmm1 T C 15: 81,955,744 T127A probably damaging Het
Proc C A 18: 32,123,820 probably benign Het
Ranbp9 T C 13: 43,480,504 E142G probably damaging Het
Recql4 C A 15: 76,709,912 probably benign Het
Robo4 C T 9: 37,413,040 P955S possibly damaging Het
Ryr3 T A 2: 112,709,073 N3274I probably damaging Het
Serpinb10 T C 1: 107,540,882 probably benign Het
Slc9c1 A T 16: 45,584,448 K848* probably null Het
Slfn5 A G 11: 82,956,981 T231A probably damaging Het
Syncrip T C 9: 88,456,607 probably benign Het
Syt16 A T 12: 74,266,739 T480S probably damaging Het
Taf1c G A 8: 119,601,192 T293M probably benign Het
Tbc1d5 T C 17: 50,813,798 D430G possibly damaging Het
Tbx18 T C 9: 87,724,331 T254A probably damaging Het
Tpm1 C T 9: 67,036,055 R105H probably damaging Het
Usp17la T C 7: 104,861,315 S376P probably benign Het
Vmn1r19 A G 6: 57,405,194 D244G probably damaging Het
Vmn1r58 A T 7: 5,411,055 F59I probably benign Het
Vmn2r45 A T 7: 8,485,623 M136K probably benign Het
Vmn2r70 T A 7: 85,569,019 R24* probably null Het
Vmn2r75 T A 7: 86,148,593 I671F probably damaging Het
Other mutations in Crybg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00155:Crybg1 APN 10 43992509 missense probably damaging 1.00
IGL00502:Crybg1 APN 10 43958313 missense probably damaging 1.00
IGL00848:Crybg1 APN 10 43967818 splice site probably null
IGL01310:Crybg1 APN 10 43975058 missense possibly damaging 0.95
IGL01310:Crybg1 APN 10 44003600 missense probably damaging 0.99
IGL02683:Crybg1 APN 10 43989216 missense possibly damaging 0.64
IGL03095:Crybg1 APN 10 43989249 missense probably damaging 1.00
R0062:Crybg1 UTSW 10 43997906 missense probably damaging 0.98
R0142:Crybg1 UTSW 10 43999063 missense possibly damaging 0.83
R0294:Crybg1 UTSW 10 43986376 missense probably damaging 1.00
R0539:Crybg1 UTSW 10 43998898 missense probably benign 0.03
R0781:Crybg1 UTSW 10 43999093 missense possibly damaging 0.95
R1110:Crybg1 UTSW 10 43999093 missense possibly damaging 0.95
R1189:Crybg1 UTSW 10 43998794 missense probably damaging 1.00
R1428:Crybg1 UTSW 10 43975078 missense probably benign 0.33
R1521:Crybg1 UTSW 10 43998416 missense probably damaging 1.00
R1688:Crybg1 UTSW 10 43973798 missense probably damaging 1.00
R1728:Crybg1 UTSW 10 44004019 missense probably damaging 0.97
R1756:Crybg1 UTSW 10 43986279 missense probably damaging 1.00
R1773:Crybg1 UTSW 10 43992548 missense possibly damaging 0.91
R1784:Crybg1 UTSW 10 44004019 missense probably damaging 0.97
R1850:Crybg1 UTSW 10 43997674 missense probably damaging 1.00
R1911:Crybg1 UTSW 10 43997677 missense possibly damaging 0.47
R1920:Crybg1 UTSW 10 43997548 missense probably damaging 1.00
R1964:Crybg1 UTSW 10 43958330 missense probably damaging 1.00
R2298:Crybg1 UTSW 10 43999222 missense probably damaging 1.00
R3617:Crybg1 UTSW 10 43956786 missense possibly damaging 0.82
R3913:Crybg1 UTSW 10 43998763 missense possibly damaging 0.95
R4081:Crybg1 UTSW 10 43975039 missense probably damaging 1.00
R4116:Crybg1 UTSW 10 43999162 missense possibly damaging 0.91
R4409:Crybg1 UTSW 10 43998758 missense possibly damaging 0.94
R4583:Crybg1 UTSW 10 43997620 missense probably damaging 1.00
R4721:Crybg1 UTSW 10 43997887 missense probably damaging 1.00
R4818:Crybg1 UTSW 10 43998587 missense probably benign 0.00
R4859:Crybg1 UTSW 10 43992569 missense probably damaging 1.00
R4933:Crybg1 UTSW 10 43999213 missense probably damaging 1.00
R5028:Crybg1 UTSW 10 43998212 missense possibly damaging 0.74
R5057:Crybg1 UTSW 10 43989108 nonsense probably null
R5102:Crybg1 UTSW 10 43997836 missense probably damaging 1.00
R5103:Crybg1 UTSW 10 43997948 missense probably damaging 1.00
R5137:Crybg1 UTSW 10 43958336 missense probably damaging 1.00
R5212:Crybg1 UTSW 10 43967743 missense possibly damaging 0.95
R5307:Crybg1 UTSW 10 44003714 missense probably benign 0.00
R5353:Crybg1 UTSW 10 43973665 missense probably damaging 1.00
R5463:Crybg1 UTSW 10 44003693 nonsense probably null
R5503:Crybg1 UTSW 10 43998766 missense probably benign 0.00
R5583:Crybg1 UTSW 10 44003510 missense probably benign 0.01
R5835:Crybg1 UTSW 10 43975133 missense probably benign 0.28
R6021:Crybg1 UTSW 10 43997538 missense probably damaging 1.00
R6032:Crybg1 UTSW 10 43956760 missense probably damaging 1.00
R6032:Crybg1 UTSW 10 43956760 missense probably damaging 1.00
R6277:Crybg1 UTSW 10 43997259 missense probably benign 0.03
R6338:Crybg1 UTSW 10 43992509 missense probably damaging 1.00
R6348:Crybg1 UTSW 10 44003951 missense probably damaging 1.00
R6514:Crybg1 UTSW 10 43997215 missense probably damaging 1.00
R6785:Crybg1 UTSW 10 43999171 missense probably benign 0.00
R6804:Crybg1 UTSW 10 43966341 missense probably damaging 1.00
R6938:Crybg1 UTSW 10 43997383 missense probably benign 0.01
R6983:Crybg1 UTSW 10 43999342 missense probably damaging 1.00
R7002:Crybg1 UTSW 10 43998835 missense probably damaging 1.00
R7153:Crybg1 UTSW 10 43964666 missense possibly damaging 0.64
R7271:Crybg1 UTSW 10 43997623 nonsense probably null
R7293:Crybg1 UTSW 10 44003432 missense probably damaging 1.00
R7304:Crybg1 UTSW 10 43997258 missense probably benign 0.05
R7313:Crybg1 UTSW 10 43989111 missense probably damaging 0.98
R7373:Crybg1 UTSW 10 44004140 missense probably benign 0.00
R7449:Crybg1 UTSW 10 44004519 missense probably benign
R7530:Crybg1 UTSW 10 43999073 missense possibly damaging 0.62
R7660:Crybg1 UTSW 10 43998835 missense probably damaging 0.97
R7701:Crybg1 UTSW 10 43989143 missense probably benign 0.06
R8359:Crybg1 UTSW 10 43992542 missense probably benign 0.03
RF005:Crybg1 UTSW 10 44004745 missense probably benign 0.03
RF024:Crybg1 UTSW 10 44004745 missense probably benign 0.03
X0065:Crybg1 UTSW 10 43992526 synonymous silent
Z1088:Crybg1 UTSW 10 43997311 missense probably benign
Posted On2013-10-07