Incidental Mutation 'R5028:Crybg1'
ID 391518
Institutional Source Beutler Lab
Gene Symbol Crybg1
Ensembl Gene ENSMUSG00000019866
Gene Name crystallin beta-gamma domain containing 1
Synonyms Aim1
MMRRC Submission 042619-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5028 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 43826632-44024849 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 43874208 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 967 (H967Y)
Ref Sequence ENSEMBL: ENSMUSP00000143429 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020017] [ENSMUST00000200401]
AlphaFold A0A0G2JG52
Predicted Effect possibly damaging
Transcript: ENSMUST00000020017
AA Change: H593Y

PolyPhen 2 Score 0.494 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000020017
Gene: ENSMUSG00000019866
AA Change: H593Y

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: H967Y

PolyPhen 2 Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000143429
Gene: ENSMUSG00000019866
AA Change: H967Y

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 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.1%
Validation Efficiency 97% (62/64)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T A 2: 69,104,356 (GRCm39) S777C probably damaging Het
Ano5 T A 7: 51,187,458 (GRCm39) probably null Het
Arhgap17 T A 7: 122,893,896 (GRCm39) H508L probably benign Het
Arhgap29 T A 3: 121,803,709 (GRCm39) probably null Het
Atp12a T C 14: 56,624,435 (GRCm39) F961S probably damaging Het
B4galnt4 C A 7: 140,647,975 (GRCm39) P497Q probably benign Het
Camsap1 A G 2: 25,834,568 (GRCm39) S364P probably damaging Het
Ccdc150 C A 1: 54,302,636 (GRCm39) D85E probably benign Het
Cdc45 A G 16: 18,613,930 (GRCm39) Y291H probably benign Het
Comp A C 8: 70,829,290 (GRCm39) N289T probably damaging Het
Cops3 T A 11: 59,708,856 (GRCm39) probably benign Het
Csmd1 A T 8: 16,039,090 (GRCm39) F2423I probably damaging Het
Dact1 C A 12: 71,365,347 (GRCm39) C709* probably null Het
Dcxr T G 11: 120,617,273 (GRCm39) Q90P probably damaging Het
Ell A G 8: 71,043,349 (GRCm39) Y494C probably damaging Het
Emilin2 T C 17: 71,581,727 (GRCm39) E333G possibly damaging Het
Eml2 T C 7: 18,913,372 (GRCm39) probably null Het
Fam186b T A 15: 99,178,682 (GRCm39) M215L probably damaging Het
Gm17078 T A 14: 51,848,699 (GRCm39) R13W probably null Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Hspa14 A G 2: 3,499,206 (GRCm39) F196S possibly damaging Het
Ier5 A G 1: 154,974,849 (GRCm39) S110P possibly damaging Het
Kif1a T A 1: 92,982,049 (GRCm39) I793F possibly damaging Het
Lrrc43 T C 5: 123,646,176 (GRCm39) I643T probably damaging Het
Map3k19 A T 1: 127,750,969 (GRCm39) L794Q probably benign Het
Meox2 A T 12: 37,158,935 (GRCm39) M36L probably benign Het
Mgat5b T A 11: 116,875,855 (GRCm39) L693Q probably damaging Het
Mup4 T A 4: 59,958,124 (GRCm39) E148V possibly damaging Het
Napb T C 2: 148,545,057 (GRCm39) N162S possibly damaging Het
Nlgn2 T C 11: 69,718,563 (GRCm39) D339G probably benign Het
Nucks1 C T 1: 131,855,840 (GRCm39) R90C possibly damaging Het
Or11g7 T C 14: 50,691,196 (GRCm39) V229A probably damaging Het
Or5an9 T A 19: 12,187,518 (GRCm39) V196E possibly damaging Het
Plekhd1 A T 12: 80,739,723 (GRCm39) D24V probably damaging Het
Prpf4b C T 13: 35,083,958 (GRCm39) P909L probably damaging Het
Rasgrp1 T A 2: 117,132,485 (GRCm39) K116* probably null Het
Ror1 A G 4: 100,269,133 (GRCm39) T324A possibly damaging Het
Slc24a4 G A 12: 102,230,629 (GRCm39) G505R probably damaging Het
Slc8a1 A G 17: 81,956,702 (GRCm39) I112T possibly damaging Het
Smarcc2 A G 10: 128,297,314 (GRCm39) S69G probably damaging Het
Smc2 A T 4: 52,458,447 (GRCm39) E429D probably damaging Het
Sry T C Y: 2,663,312 (GRCm39) D116G probably damaging Het
Tcea3 T A 4: 135,985,246 (GRCm39) V154E possibly damaging Het
Tigd2 G A 6: 59,188,205 (GRCm39) W357* probably null Het
Tmem177 T A 1: 119,838,419 (GRCm39) T87S probably benign Het
Treh A T 9: 44,594,186 (GRCm39) E144V probably null Het
Trpm6 T A 19: 18,764,124 (GRCm39) D243E probably damaging Het
Ttn T C 2: 76,608,394 (GRCm39) D17843G probably damaging Het
Vars2 A C 17: 35,970,365 (GRCm39) probably null Het
Vmn1r201 G A 13: 22,659,530 (GRCm39) W248* probably null Het
Yap1 T C 9: 8,001,690 (GRCm39) T99A probably benign Het
Zbtb8b C A 4: 129,326,793 (GRCm39) C91F probably damaging Het
Zfp882 A G 8: 72,668,498 (GRCm39) T442A possibly damaging Het
Zxdc G T 6: 90,359,320 (GRCm39) G651C 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
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'- GCATCTTGACCTGGCCTTTG -3'
(R):5'- GAAACTATGGGGAAAGACTGTCCC -3'

Sequencing Primer
(F):5'- TGGGGGCCTTCTGCATGAC -3'
(R):5'- TCCAAAGTCCTCGTCCAGG -3'
Posted On 2016-06-06