Incidental Mutation 'R5503:Crybg1'
ID 430744
Institutional Source Beutler Lab
Gene Symbol Crybg1
Ensembl Gene ENSMUSG00000019866
Gene Name crystallin beta-gamma domain containing 1
Synonyms Aim1
MMRRC Submission 043064-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5503 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 43826632-44024849 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 43874762 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Isoleucine at position 782 (S782I)
Ref Sequence ENSEMBL: ENSMUSP00000143429 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020017] [ENSMUST00000200401]
AlphaFold A0A0G2JG52
Predicted Effect probably benign
Transcript: ENSMUST00000020017
AA Change: S408I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000020017
Gene: ENSMUSG00000019866
AA Change: S408I

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 probably benign
Transcript: ENSMUST00000200401
AA Change: S782I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000143429
Gene: ENSMUSG00000019866
AA Change: S782I

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.4%
  • 10x: 95.4%
  • 20x: 91.5%
Validation Efficiency 96% (103/107)
Allele List at MGI
Other mutations in this stock
Total: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
Abca6 A G 11: 110,109,083 (GRCm39) S696P probably damaging Het
Abca9 G A 11: 110,032,436 (GRCm39) T727M probably damaging Het
Alpk2 T C 18: 65,439,312 (GRCm39) R1161G probably benign Het
Amy1 T C 3: 113,349,709 (GRCm39) D487G probably benign Het
Arap2 G A 5: 62,787,529 (GRCm39) A1409V probably damaging Het
B4galt6 C A 18: 20,878,409 (GRCm39) probably null Het
Cacna1s G A 1: 136,014,480 (GRCm39) G382D probably damaging Het
Camk2a A G 18: 61,111,072 (GRCm39) D87G probably damaging Het
Cdh18 A G 15: 23,436,620 (GRCm39) Y492C probably damaging Het
Cert1 C T 13: 96,679,747 (GRCm39) R26C possibly damaging Het
Col18a1 C T 10: 76,907,454 (GRCm39) G861D probably damaging Het
Csgalnact1 G A 8: 68,914,125 (GRCm39) L27F probably damaging Het
Dab1 T A 4: 104,369,461 (GRCm39) C3S probably benign Het
Dapk1 T C 13: 60,873,126 (GRCm39) F343L probably benign Het
Dgat1 A T 15: 76,386,394 (GRCm39) probably benign Het
Dnah11 C A 12: 117,844,186 (GRCm39) probably null Het
Dsg2 T A 18: 20,713,708 (GRCm39) Y226* probably null Het
Epg5 T A 18: 77,994,422 (GRCm39) M351K possibly damaging Het
F13b A G 1: 139,450,281 (GRCm39) T648A probably benign Het
Fgf17 T C 14: 70,874,408 (GRCm39) Y127C probably damaging Het
Fkbp15 G A 4: 62,246,124 (GRCm39) P435S probably benign Het
Gfm1 G A 3: 67,361,060 (GRCm39) probably null Het
Gigyf1 T C 5: 137,521,729 (GRCm39) probably benign Het
Gm12830 A T 4: 114,678,936 (GRCm39) T6S unknown Het
Gm6465 A T 5: 11,898,150 (GRCm39) N88I probably damaging Het
Gpr18 C T 14: 122,149,159 (GRCm39) V289I probably damaging Het
Ipp G T 4: 116,395,135 (GRCm39) E557* probably null Het
Klhl12 T A 1: 134,413,653 (GRCm39) probably null Het
Klhl38 A G 15: 58,185,745 (GRCm39) V328A possibly damaging Het
Kndc1 A G 7: 139,511,802 (GRCm39) T1470A probably damaging Het
Kntc1 T A 5: 123,957,939 (GRCm39) D2173E possibly damaging Het
Lipi T C 16: 75,370,864 (GRCm39) K118E probably benign Het
Marf1 A C 16: 13,970,095 (GRCm39) L208R probably damaging Het
Misp G A 10: 79,662,552 (GRCm39) R323K probably damaging Het
Mlxip T A 5: 123,533,390 (GRCm39) M133K probably damaging Het
Mon2 A T 10: 122,868,550 (GRCm39) M501K possibly damaging Het
Myh2 A G 11: 67,064,275 (GRCm39) I77V probably benign Het
Napa C A 7: 15,849,549 (GRCm39) Q254K probably benign Het
Nckap5l C A 15: 99,323,503 (GRCm39) G1000V probably damaging Het
Neo1 A T 9: 58,892,933 (GRCm39) S236R possibly damaging Het
Neurl4 T A 11: 69,797,194 (GRCm39) Y594N probably damaging Het
Nmral1 G A 16: 4,533,493 (GRCm39) P94L probably benign Het
Notch3 A T 17: 32,366,029 (GRCm39) I1024N probably benign Het
Nsd1 T A 13: 55,393,752 (GRCm39) I451K probably damaging Het
Nt5c3b T C 11: 100,323,883 (GRCm39) D143G probably benign Het
Oplah A G 15: 76,189,646 (GRCm39) probably null Het
Or13a17 A C 7: 140,271,309 (GRCm39) M164L probably benign Het
Or2ak4 T A 11: 58,649,154 (GRCm39) V221E probably damaging Het
Or6b2b C A 1: 92,418,918 (GRCm39) K186N probably benign Het
Or7d10 A G 9: 19,831,675 (GRCm39) T57A probably benign Het
Or8b48 T C 9: 38,493,368 (GRCm39) V265A probably benign Het
Or8g19 A G 9: 39,055,780 (GRCm39) N128S probably benign Het
Phb2 T A 6: 124,689,985 (GRCm39) probably benign Het
Plcl2 A G 17: 50,816,957 (GRCm39) I108V probably benign Het
Plpp6 T A 19: 28,942,146 (GRCm39) M249K probably damaging Het
Pnpt1 G A 11: 29,088,156 (GRCm39) G189E probably damaging Het
Pramel17 A T 4: 101,692,999 (GRCm39) Y334N probably benign Het
Ptprn C T 1: 75,228,519 (GRCm39) V853M probably damaging Het
Ptprq T C 10: 107,524,189 (GRCm39) probably null Het
Rai1 G A 11: 60,077,279 (GRCm39) V448I probably benign Het
Rbm20 T A 19: 53,839,785 (GRCm39) C925S possibly damaging Het
Rin3 C A 12: 102,279,314 (GRCm39) P41Q probably benign Het
Rpl31-ps21 T C 5: 21,324,505 (GRCm39) noncoding transcript Het
Rpl39-ps A T 15: 102,543,561 (GRCm39) noncoding transcript Het
Rtn4ip1 T A 10: 43,783,879 (GRCm39) D133E probably benign Het
Ryr1 T C 7: 28,768,453 (GRCm39) K2839E possibly damaging Het
Septin5 T C 16: 18,442,118 (GRCm39) K268R probably benign Het
Serpinb6b T A 13: 33,161,642 (GRCm39) D238E possibly damaging Het
Slc15a2 C T 16: 36,582,747 (GRCm39) V214M probably damaging Het
Smarca2 T C 19: 26,601,336 (GRCm39) M18T probably damaging Het
Smarca2 C A 19: 26,659,446 (GRCm39) T912K possibly damaging Het
Smdt1 A T 15: 82,232,101 (GRCm39) R46S possibly damaging Het
Spa17 A C 9: 37,523,273 (GRCm39) F5V probably damaging Het
Spag17 A G 3: 99,934,560 (GRCm39) E614G possibly damaging Het
Sstr4 CGAGGAGGAGGAGGA CGAGGAGGAGGAGGAGGA 2: 148,237,471 (GRCm39) probably benign Het
Tlr1 A T 5: 65,083,635 (GRCm39) V314D probably damaging Het
Trappc8 A T 18: 20,969,957 (GRCm39) L1011Q probably benign Het
Tsga10 A G 1: 37,800,028 (GRCm39) *691Q probably null Het
Vav1 A T 17: 57,610,079 (GRCm39) K420* probably null Het
Vmn1r174 C G 7: 23,453,562 (GRCm39) T76R probably benign Het
Vmn2r116 A G 17: 23,605,778 (GRCm39) E230G probably benign Het
Vps13b A G 15: 35,452,312 (GRCm39) T637A probably damaging Het
Zbtb7a A G 10: 80,980,631 (GRCm39) E275G probably damaging Het
Zfp280b A G 10: 75,875,296 (GRCm39) probably null Het
Zfp763 A G 17: 33,238,507 (GRCm39) Y213H possibly damaging Het
Zfp78 T A 7: 6,381,528 (GRCm39) W161R probably benign Het
Other mutations in Crybg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00155:Crybg1 APN 10 43,868,505 (GRCm39) missense probably damaging 1.00
IGL00502:Crybg1 APN 10 43,834,309 (GRCm39) missense probably damaging 1.00
IGL00848:Crybg1 APN 10 43,843,814 (GRCm39) splice site probably null
IGL01287:Crybg1 APN 10 43,868,490 (GRCm39) missense possibly damaging 0.53
IGL01310:Crybg1 APN 10 43,879,596 (GRCm39) missense probably damaging 0.99
IGL01310:Crybg1 APN 10 43,851,054 (GRCm39) missense possibly damaging 0.95
IGL02683:Crybg1 APN 10 43,865,212 (GRCm39) missense possibly damaging 0.64
IGL03095:Crybg1 APN 10 43,865,245 (GRCm39) missense probably damaging 1.00
R0062:Crybg1 UTSW 10 43,873,902 (GRCm39) missense probably damaging 0.98
R0142:Crybg1 UTSW 10 43,875,059 (GRCm39) missense possibly damaging 0.83
R0294:Crybg1 UTSW 10 43,862,372 (GRCm39) missense probably damaging 1.00
R0539:Crybg1 UTSW 10 43,874,894 (GRCm39) missense probably benign 0.03
R0781:Crybg1 UTSW 10 43,875,089 (GRCm39) missense possibly damaging 0.95
R1110:Crybg1 UTSW 10 43,875,089 (GRCm39) missense possibly damaging 0.95
R1189:Crybg1 UTSW 10 43,874,790 (GRCm39) missense probably damaging 1.00
R1428:Crybg1 UTSW 10 43,851,074 (GRCm39) missense probably benign 0.33
R1521:Crybg1 UTSW 10 43,874,412 (GRCm39) missense probably damaging 1.00
R1688:Crybg1 UTSW 10 43,849,794 (GRCm39) missense probably damaging 1.00
R1728:Crybg1 UTSW 10 43,880,015 (GRCm39) missense probably damaging 0.97
R1756:Crybg1 UTSW 10 43,862,275 (GRCm39) missense probably damaging 1.00
R1773:Crybg1 UTSW 10 43,868,544 (GRCm39) missense possibly damaging 0.91
R1784:Crybg1 UTSW 10 43,880,015 (GRCm39) missense probably damaging 0.97
R1850:Crybg1 UTSW 10 43,873,670 (GRCm39) missense probably damaging 1.00
R1911:Crybg1 UTSW 10 43,873,673 (GRCm39) missense possibly damaging 0.47
R1920:Crybg1 UTSW 10 43,873,544 (GRCm39) missense probably damaging 1.00
R1964:Crybg1 UTSW 10 43,834,326 (GRCm39) missense probably damaging 1.00
R2298:Crybg1 UTSW 10 43,875,218 (GRCm39) missense probably damaging 1.00
R3617:Crybg1 UTSW 10 43,832,782 (GRCm39) missense possibly damaging 0.82
R3913:Crybg1 UTSW 10 43,874,759 (GRCm39) missense possibly damaging 0.95
R4081:Crybg1 UTSW 10 43,851,035 (GRCm39) missense probably damaging 1.00
R4116:Crybg1 UTSW 10 43,875,158 (GRCm39) missense possibly damaging 0.91
R4409:Crybg1 UTSW 10 43,874,754 (GRCm39) missense possibly damaging 0.94
R4583:Crybg1 UTSW 10 43,873,616 (GRCm39) missense probably damaging 1.00
R4721:Crybg1 UTSW 10 43,873,883 (GRCm39) missense probably damaging 1.00
R4818:Crybg1 UTSW 10 43,874,583 (GRCm39) missense probably benign 0.00
R4859:Crybg1 UTSW 10 43,868,565 (GRCm39) missense probably damaging 1.00
R4933:Crybg1 UTSW 10 43,875,209 (GRCm39) missense probably damaging 1.00
R5028:Crybg1 UTSW 10 43,874,208 (GRCm39) missense possibly damaging 0.74
R5057:Crybg1 UTSW 10 43,865,104 (GRCm39) nonsense probably null
R5102:Crybg1 UTSW 10 43,873,832 (GRCm39) missense probably damaging 1.00
R5103:Crybg1 UTSW 10 43,873,944 (GRCm39) missense probably damaging 1.00
R5137:Crybg1 UTSW 10 43,834,332 (GRCm39) missense probably damaging 1.00
R5212:Crybg1 UTSW 10 43,843,739 (GRCm39) missense possibly damaging 0.95
R5307:Crybg1 UTSW 10 43,879,710 (GRCm39) missense probably benign 0.00
R5353:Crybg1 UTSW 10 43,849,661 (GRCm39) missense probably damaging 1.00
R5463:Crybg1 UTSW 10 43,879,689 (GRCm39) nonsense probably null
R5583:Crybg1 UTSW 10 43,879,506 (GRCm39) missense probably benign 0.01
R5835:Crybg1 UTSW 10 43,851,129 (GRCm39) missense probably benign 0.28
R6021:Crybg1 UTSW 10 43,873,534 (GRCm39) missense probably damaging 1.00
R6032:Crybg1 UTSW 10 43,832,756 (GRCm39) missense probably damaging 1.00
R6032:Crybg1 UTSW 10 43,832,756 (GRCm39) missense probably damaging 1.00
R6277:Crybg1 UTSW 10 43,873,255 (GRCm39) missense probably benign 0.03
R6338:Crybg1 UTSW 10 43,868,505 (GRCm39) missense probably damaging 1.00
R6348:Crybg1 UTSW 10 43,879,947 (GRCm39) missense probably damaging 1.00
R6514:Crybg1 UTSW 10 43,873,211 (GRCm39) missense probably damaging 1.00
R6785:Crybg1 UTSW 10 43,875,167 (GRCm39) missense probably benign 0.00
R6804:Crybg1 UTSW 10 43,842,337 (GRCm39) missense probably damaging 1.00
R6938:Crybg1 UTSW 10 43,873,379 (GRCm39) missense probably benign 0.01
R6983:Crybg1 UTSW 10 43,875,338 (GRCm39) missense probably damaging 1.00
R7002:Crybg1 UTSW 10 43,874,831 (GRCm39) missense probably damaging 1.00
R7153:Crybg1 UTSW 10 43,840,662 (GRCm39) missense possibly damaging 0.64
R7271:Crybg1 UTSW 10 43,873,619 (GRCm39) nonsense probably null
R7293:Crybg1 UTSW 10 43,879,428 (GRCm39) missense probably damaging 1.00
R7304:Crybg1 UTSW 10 43,873,254 (GRCm39) missense probably benign 0.05
R7313:Crybg1 UTSW 10 43,865,107 (GRCm39) missense probably damaging 0.98
R7373:Crybg1 UTSW 10 43,880,136 (GRCm39) missense probably benign 0.00
R7449:Crybg1 UTSW 10 43,880,515 (GRCm39) missense probably benign
R7530:Crybg1 UTSW 10 43,875,069 (GRCm39) missense possibly damaging 0.62
R7660:Crybg1 UTSW 10 43,874,831 (GRCm39) missense probably damaging 0.97
R7701:Crybg1 UTSW 10 43,865,139 (GRCm39) missense probably benign 0.06
R8181:Crybg1 UTSW 10 43,862,322 (GRCm39) missense probably damaging 0.98
R8237:Crybg1 UTSW 10 43,842,376 (GRCm39) nonsense probably null
R8359:Crybg1 UTSW 10 43,868,538 (GRCm39) missense probably benign 0.03
R8751:Crybg1 UTSW 10 43,880,838 (GRCm39) missense probably benign 0.04
R8809:Crybg1 UTSW 10 43,879,428 (GRCm39) missense probably damaging 1.00
R9017:Crybg1 UTSW 10 43,880,477 (GRCm39) missense probably benign 0.00
R9069:Crybg1 UTSW 10 43,874,103 (GRCm39) missense probably benign 0.30
R9099:Crybg1 UTSW 10 43,874,844 (GRCm39) missense probably benign 0.01
R9118:Crybg1 UTSW 10 43,879,925 (GRCm39) missense possibly damaging 0.56
R9185:Crybg1 UTSW 10 43,880,091 (GRCm39) missense probably benign 0.04
R9486:Crybg1 UTSW 10 43,880,145 (GRCm39) start gained probably benign
R9561:Crybg1 UTSW 10 43,873,428 (GRCm39) missense probably benign 0.00
RF005:Crybg1 UTSW 10 43,880,741 (GRCm39) missense probably benign 0.03
RF024:Crybg1 UTSW 10 43,880,741 (GRCm39) missense probably benign 0.03
X0065:Crybg1 UTSW 10 43,868,522 (GRCm39) synonymous silent
Z1088:Crybg1 UTSW 10 43,873,307 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TTGAACACAGCCATCTTGGGG -3'
(R):5'- CAGAGAAGAGATTCGTCCAGCC -3'

Sequencing Primer
(F):5'- ATCTTGGGGAGCGTCCAC -3'
(R):5'- GAGATTCGTCCAGCCACCAGAG -3'
Posted On 2016-10-05