Incidental Mutation 'R7153:Crybg1'
ID 554265
Institutional Source Beutler Lab
Gene Symbol Crybg1
Ensembl Gene ENSMUSG00000019866
Gene Name crystallin beta-gamma domain containing 1
Synonyms Aim1
MMRRC Submission 045255-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7153 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 43826632-44024849 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 43840662 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 1812 (Y1812F)
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: Y1438F

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000020017
Gene: ENSMUSG00000019866
AA Change: Y1438F

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: Y1812F

PolyPhen 2 Score 0.636 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000143429
Gene: ENSMUSG00000019866
AA Change: Y1812F

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (75/75)
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano2 A G 6: 125,969,906 (GRCm39) T741A possibly damaging Het
Aox4 T C 1: 58,289,378 (GRCm39) M767T probably damaging Het
Arhgap39 C A 15: 76,649,691 (GRCm39) S27I probably benign Het
AU018091 T A 7: 3,209,353 (GRCm39) M296L probably benign Het
Axin1 A G 17: 26,406,942 (GRCm39) T512A probably benign Het
B4galnt3 A T 6: 120,191,929 (GRCm39) D602E probably benign Het
Bcl6 G A 16: 23,784,976 (GRCm39) R675* probably null Het
Bsnd A T 4: 106,349,230 (GRCm39) D3E probably benign Het
Btbd18 C T 2: 84,496,772 (GRCm39) R137* probably null Het
C2cd5 A G 6: 142,965,135 (GRCm39) S871P probably benign Het
Cobl G T 11: 12,204,128 (GRCm39) P858Q probably damaging Het
Col6a1 C T 10: 76,546,175 (GRCm39) probably null Het
Crb2 A T 2: 37,677,420 (GRCm39) H304L probably benign Het
Ddx60 A T 8: 62,441,142 (GRCm39) K1070N possibly damaging Het
Defb22 T C 2: 152,327,840 (GRCm39) K115R unknown Het
Dhx8 C T 11: 101,631,001 (GRCm39) probably null Het
Dnah5 T A 15: 28,365,668 (GRCm39) probably null Het
Dnah7b T A 1: 46,165,964 (GRCm39) F543Y probably benign Het
Ehhadh A G 16: 21,585,071 (GRCm39) F270S probably damaging Het
Esyt2 A G 12: 116,310,128 (GRCm39) M397V probably benign Het
Fanca A T 8: 124,043,164 (GRCm39) L74H probably damaging Het
Fbxl17 C A 17: 63,367,346 (GRCm39) V676F probably benign Het
Fndc1 A G 17: 8,020,477 (GRCm39) V102A probably damaging Het
Gpalpp1 T C 14: 76,332,451 (GRCm39) Y273C probably damaging Het
Gpatch8 TTCCTCCTCCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC 11: 102,371,014 (GRCm39) probably benign Het
Grik2 T C 10: 49,411,463 (GRCm39) H225R probably benign Het
Helz2 A T 2: 180,873,078 (GRCm39) S2411T probably benign Het
Hnmt C T 2: 23,904,353 (GRCm39) A103T probably damaging Het
Ighv15-2 G T 12: 114,528,210 (GRCm39) Y114* probably null Het
Irak2 A G 6: 113,655,670 (GRCm39) H357R probably benign Het
Kcp T C 6: 29,499,014 (GRCm39) E320G probably damaging Het
Kpna4 A G 3: 68,997,131 (GRCm39) L352S probably damaging Het
Krt36 G A 11: 99,995,972 (GRCm39) Q151* probably null Het
Krt77 G A 15: 101,773,931 (GRCm39) T241M probably benign Het
Lca5l T A 16: 95,975,009 (GRCm39) N305I probably damaging Het
Lefty1 T A 1: 180,765,332 (GRCm39) L300Q probably benign Het
Mertk A G 2: 128,578,569 (GRCm39) Y185C probably damaging Het
Mmp14 T C 14: 54,673,708 (GRCm39) I124T possibly damaging Het
Nlrc4 T C 17: 74,754,098 (GRCm39) E95G possibly damaging Het
Npc1 A G 18: 12,346,348 (GRCm39) F283L possibly damaging Het
Or4k38 A T 2: 111,166,246 (GRCm39) M59K probably damaging Het
Or4p19 A C 2: 88,242,462 (GRCm39) L180W probably damaging Het
Pcdha11 T C 18: 37,144,278 (GRCm39) V123A probably damaging Het
Pcdhga2 T C 18: 37,802,261 (GRCm39) V35A probably damaging Het
Pgd G T 4: 149,246,135 (GRCm39) T94K probably benign Het
Pik3c2a T C 7: 115,941,487 (GRCm39) N1593S probably damaging Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Plcb3 A G 19: 6,935,452 (GRCm39) probably null Het
Prkd3 C T 17: 79,273,784 (GRCm39) D491N probably benign Het
Ptprf T C 4: 118,088,740 (GRCm39) T688A probably damaging Het
Pycr2 T A 1: 180,734,247 (GRCm39) L210M probably damaging Het
Rpl36 T C 17: 56,921,137 (GRCm39) I81T probably benign Het
Rraga C T 4: 86,494,253 (GRCm39) A33V probably damaging Het
Slc29a1 G A 17: 45,896,688 (GRCm39) A429V probably damaging Het
Stab1 T G 14: 30,882,541 (GRCm39) E432A probably benign Het
Synj1 C T 16: 90,744,978 (GRCm39) G1189R probably benign Het
Synpo2 A G 3: 122,906,053 (GRCm39) *1088Q probably null Het
Tbc1d21 T C 9: 58,270,376 (GRCm39) D133G probably damaging Het
Tenm2 A G 11: 35,915,009 (GRCm39) V2176A probably damaging Het
Tff1 A G 17: 31,381,772 (GRCm39) I35T probably benign Het
Thnsl1 T C 2: 21,217,764 (GRCm39) V506A possibly damaging Het
Timm10b A G 7: 105,290,087 (GRCm39) Q50R unknown Het
Tjp2 A T 19: 24,079,345 (GRCm39) N843K probably benign Het
Tle1 A T 4: 72,057,298 (GRCm39) F101I probably benign Het
Tmem225 T C 9: 40,059,664 (GRCm39) F15L probably benign Het
Trav12-3 T C 14: 53,859,618 (GRCm39) L88P probably benign Het
Ttc7b A T 12: 100,321,293 (GRCm39) W613R probably damaging Het
Ttn T A 2: 76,608,848 (GRCm39) M17723L probably benign Het
Ttn T C 2: 76,775,660 (GRCm39) D1840G unknown Het
Tubgcp2 T C 7: 139,580,949 (GRCm39) H668R probably benign Het
Ush2a C A 1: 188,460,681 (GRCm39) N2647K possibly damaging Het
Vmn1r14 C T 6: 57,210,851 (GRCm39) S143F probably benign Het
Vmn2r70 A G 7: 85,214,262 (GRCm39) S297P probably damaging Het
Ywhab T C 2: 163,855,980 (GRCm39) F119L probably damaging Het
Zmym2 T A 14: 57,187,659 (GRCm39) D1108E 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
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
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'- GCAGATGTAACCTGAGGAAGTCC -3'
(R):5'- TGACATTCAGCGAGCATATGC -3'

Sequencing Primer
(F):5'- AGGAAGTCCTAGCTGCTGG -3'
(R):5'- GCTGGCCTCTAATGTACAGAGATC -3'
Posted On 2019-05-15