Incidental Mutation 'R4721:Crybg1'
ID 354473
Institutional Source Beutler Lab
Gene Symbol Crybg1
Ensembl Gene ENSMUSG00000019866
Gene Name crystallin beta-gamma domain containing 1
Synonyms Aim1
MMRRC Submission 041986-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4721 (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 43873883 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 1075 (R1075L)
Ref Sequence ENSEMBL: ENSMUSP00000143429 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020017] [ENSMUST00000200401]
AlphaFold A0A0G2JG52
Predicted Effect probably damaging
Transcript: ENSMUST00000020017
AA Change: R701L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000020017
Gene: ENSMUSG00000019866
AA Change: R701L

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 damaging
Transcript: ENSMUST00000200401
AA Change: R1075L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143429
Gene: ENSMUSG00000019866
AA Change: R1075L

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 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 98% (90/92)
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T C 14: 32,385,107 (GRCm39) D286G probably benign Het
Abca15 G A 7: 119,949,998 (GRCm39) E491K probably benign Het
Acsl5 A G 19: 55,268,962 (GRCm39) T208A probably benign Het
Adamts10 T A 17: 33,764,511 (GRCm39) probably null Het
Ahcyl1 T C 3: 107,577,233 (GRCm39) Q313R possibly damaging Het
Ccdc71 C T 9: 108,340,622 (GRCm39) S145L possibly damaging Het
Cep250 A G 2: 155,812,119 (GRCm39) T472A probably damaging Het
Copa T C 1: 171,931,841 (GRCm39) probably benign Het
Ddr2 T A 1: 169,832,809 (GRCm39) K84* probably null Het
Ddx59 C T 1: 136,344,844 (GRCm39) P172S probably benign Het
Dhx34 T A 7: 15,931,307 (GRCm39) Q1118L possibly damaging Het
Dkkl1 T A 7: 44,857,232 (GRCm39) I112F probably damaging Het
Dnah8 T A 17: 30,944,140 (GRCm39) C1786S probably damaging Het
Eml6 T A 11: 29,788,525 (GRCm39) D520V possibly damaging Het
Ergic1 T A 17: 26,857,750 (GRCm39) V192E probably damaging Het
Fat3 T C 9: 15,941,262 (GRCm39) E1343G probably damaging Het
Fxr1 T C 3: 34,118,381 (GRCm39) S535P possibly damaging Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gm15446 C T 5: 110,090,866 (GRCm39) H373Y probably damaging Het
Gpr157 A T 4: 150,183,420 (GRCm39) N197Y probably benign Het
Grid2 G A 6: 64,643,185 (GRCm39) M982I probably benign Het
Hey2 G T 10: 30,710,304 (GRCm39) R150S possibly damaging Het
Hmcn1 T C 1: 150,648,322 (GRCm39) probably null Het
Ighv3-3 G A 12: 114,160,156 (GRCm39) R85* probably null Het
Ighv5-4 A T 12: 113,561,060 (GRCm39) probably benign Het
Igsf21 A G 4: 139,834,621 (GRCm39) S84P probably benign Het
Kif20b A G 19: 34,915,773 (GRCm39) T517A probably benign Het
Krt87 T C 15: 101,385,863 (GRCm39) E244G probably damaging Het
Lrp1 T C 10: 127,390,928 (GRCm39) T2990A possibly damaging Het
Lrp1b T A 2: 40,605,381 (GRCm39) probably null Het
Lrrc42 A T 4: 107,091,050 (GRCm39) S382T probably benign Het
Magi2 C T 5: 20,739,467 (GRCm39) R737W probably damaging Het
Mcc A G 18: 44,652,623 (GRCm39) L267P probably damaging Het
Mzf1 T A 7: 12,777,223 (GRCm39) Q727L possibly damaging Het
Mzf1 C T 7: 12,777,448 (GRCm39) R652Q possibly damaging Het
Nkain3 C T 4: 20,485,015 (GRCm39) A21T probably damaging Het
Nlrp4e T A 7: 23,020,521 (GRCm39) V336E possibly damaging Het
Nptn C T 9: 58,548,059 (GRCm39) R155C probably damaging Het
Nr2c2 T C 6: 92,116,828 (GRCm39) I10T possibly damaging Het
Or12e13 T A 2: 87,663,515 (GRCm39) I44N probably damaging Het
Or1e26 C T 11: 73,480,273 (GRCm39) C97Y probably damaging Het
Or1j13 T C 2: 36,369,836 (GRCm39) Y102C probably benign Het
Pdzk1 G T 3: 96,776,518 (GRCm39) E493* probably null Het
Plekhh1 GTCAAA G 12: 79,122,194 (GRCm39) probably null Het
Polr3b T C 10: 84,491,867 (GRCm39) V342A possibly damaging Het
Prg3 T C 2: 84,821,750 (GRCm39) V125A possibly damaging Het
Raph1 G A 1: 60,542,160 (GRCm39) probably benign Het
Rassf2 A G 2: 131,846,358 (GRCm39) V133A probably benign Het
Rbm22 G A 18: 60,697,463 (GRCm39) R56H probably damaging Het
Rbpjl A C 2: 164,246,447 (GRCm39) S31R probably benign Het
Reln A G 5: 22,124,220 (GRCm39) V2762A probably damaging Het
Rxrg T A 1: 167,452,621 (GRCm39) I141N probably damaging Het
Scn7a C A 2: 66,514,529 (GRCm39) G1082C probably damaging Het
Selenon C A 4: 134,270,387 (GRCm39) E322* probably null Het
Sipa1 C T 19: 5,710,413 (GRCm39) R199Q probably damaging Het
Slc26a7 A T 4: 14,510,261 (GRCm39) probably null Het
Slc37a4 T C 9: 44,312,787 (GRCm39) S314P possibly damaging Het
Smarce1 T C 11: 99,111,543 (GRCm39) I59V probably benign Het
Stk19 T C 17: 35,042,120 (GRCm39) probably null Het
Susd2 C T 10: 75,473,964 (GRCm39) D544N probably benign Het
Tcf7l2 G T 19: 55,919,886 (GRCm39) R465L possibly damaging Het
Tfap2d T A 1: 19,174,984 (GRCm39) S146T possibly damaging Het
Tmem156 A G 5: 65,248,870 (GRCm39) F10S probably benign Het
Tmem63c G T 12: 87,103,954 (GRCm39) A68S possibly damaging Het
Tnfrsf21 T C 17: 43,396,395 (GRCm39) C560R probably damaging Het
Trav10n C T 14: 53,359,590 (GRCm39) T7I probably benign Het
Ttc38 C T 15: 85,722,947 (GRCm39) R132W probably benign Het
Tvp23a T C 16: 10,245,275 (GRCm39) K108R probably benign Het
Vmn1r233 T C 17: 21,214,879 (GRCm39) M24V probably benign Het
Vmn1r88 T A 7: 12,912,451 (GRCm39) L269* probably null Het
Vmn2r101 T A 17: 19,832,287 (GRCm39) M761K probably damaging Het
Vps13b C T 15: 35,910,864 (GRCm39) Q3543* probably null Het
Wdr37 T C 13: 8,904,065 (GRCm39) E101G possibly damaging Het
Zc3hc1 A G 6: 30,374,899 (GRCm39) V214A probably benign Het
Zcchc9 A T 13: 91,948,728 (GRCm39) probably null Het
Zdbf2 A T 1: 63,347,951 (GRCm39) Q2110L possibly damaging Het
Zfp516 T G 18: 82,975,236 (GRCm39) L478R possibly damaging 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
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
R5503:Crybg1 UTSW 10 43,874,762 (GRCm39) missense probably benign 0.00
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'- ACTGTTAGTGTGCAAGGACTTG -3'
(R):5'- CAAAGGCCAGGTCAAGATGC -3'

Sequencing Primer
(F):5'- ACTTGAAGACGATGCTCTGC -3'
(R):5'- GCGACCAGCCCACTTAC -3'
Posted On 2015-10-21