Incidental Mutation 'R7449:Crybg1'
ID 577572
Institutional Source Beutler Lab
Gene Symbol Crybg1
Ensembl Gene ENSMUSG00000019866
Gene Name crystallin beta-gamma domain containing 1
Synonyms Aim1
MMRRC Submission 045524-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7449 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 43950636-44148853 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 44004519 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 224 (E224D)
Ref Sequence ENSEMBL: ENSMUSP00000143429 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020017] [ENSMUST00000200401]
AlphaFold A0A0G2JG52
Predicted Effect probably benign
Transcript: ENSMUST00000020017
SMART Domains Protein: ENSMUSP00000020017
Gene: ENSMUSG00000019866

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: E224D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000143429
Gene: ENSMUSG00000019866
AA Change: E224D

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T A 7: 120,435,908 (GRCm38) Y306N possibly damaging Het
Adgrv1 A T 13: 81,499,073 (GRCm38) V3116D probably damaging Het
Adss1 A T 12: 112,634,151 (GRCm38) T185S probably damaging Het
Ago2 G A 15: 73,146,499 (GRCm38) P30L probably damaging Het
Arb2a A G 13: 77,759,442 (GRCm38) I41V probably damaging Het
Atp5pf C T 16: 84,831,363 (GRCm38) V44M probably benign Het
Atp7b T A 8: 22,011,849 (GRCm38) I833F probably damaging Het
Birc6 T A 17: 74,702,341 (GRCm38) N4869K probably benign Het
Cacna1c C T 6: 118,602,349 (GRCm38) D1796N Het
Ccng2 C G 5: 93,273,343 (GRCm38) S237R probably benign Het
Cnga1 A G 5: 72,605,304 (GRCm38) I289T probably benign Het
Dysf T C 6: 84,137,380 (GRCm38) L1217P possibly damaging Het
Ebf2 T A 14: 67,410,020 (GRCm38) N339K probably damaging Het
Eva1c T C 16: 90,876,193 (GRCm38) probably null Het
Fam184a T C 10: 53,698,634 (GRCm38) E293G probably damaging Het
Folh1 G A 7: 86,731,748 (GRCm38) P506S probably benign Het
Ftcd A T 10: 76,580,163 (GRCm38) K210N probably benign Het
Gdf6 T A 4: 9,844,494 (GRCm38) V6D possibly damaging Het
Ghitm C A 14: 37,131,581 (GRCm38) G101C probably damaging Het
Gimap5 T A 6: 48,752,904 (GRCm38) V136D probably damaging Het
Grm4 C T 17: 27,435,371 (GRCm38) G535D probably damaging Het
Gse1 T C 8: 120,229,711 (GRCm38) S314P unknown Het
Hnrnpdl A G 5: 100,037,155 (GRCm38) I279T probably damaging Het
Idi2l T A 13: 8,943,304 (GRCm38) H51L probably damaging Het
Itpr1 T C 6: 108,389,384 (GRCm38) S923P probably damaging Het
Krt39 C A 11: 99,518,061 (GRCm38) C303F probably benign Het
Lrrn1 T C 6: 107,568,521 (GRCm38) S427P possibly damaging Het
Lrrn3 T A 12: 41,453,488 (GRCm38) R277W probably damaging Het
Ltb4r1 T C 14: 55,767,918 (GRCm38) L226P probably damaging Het
Map1b C T 13: 99,508,140 (GRCm38) R85Q probably damaging Het
Mcoln1 T C 8: 3,507,285 (GRCm38) L125P probably damaging Het
Nid1 T G 13: 13,482,051 (GRCm38) V589G probably damaging Het
Nlrp5 T G 7: 23,417,526 (GRCm38) F225C probably benign Het
Notch3 C T 17: 32,157,966 (GRCm38) A322T probably damaging Het
Or14c43 A G 7: 86,465,855 (GRCm38) H148R probably benign Het
Or52a5b G T 7: 103,767,819 (GRCm38) Q193K probably benign Het
Or7g34 T A 9: 19,566,866 (GRCm38) T173S probably benign Het
Otogl A G 10: 107,803,663 (GRCm38) C1363R probably damaging Het
Ovol1 T A 19: 5,553,597 (GRCm38) D92V probably benign Het
Pigt T C 2: 164,502,499 (GRCm38) L356P probably damaging Het
Plekhg3 A G 12: 76,566,222 (GRCm38) Q434R probably damaging Het
Plekhh1 T C 12: 79,079,552 (GRCm38) F1344L probably benign Het
Polr1has A G 17: 36,964,383 (GRCm38) D16G probably damaging Het
Psmd3 T A 11: 98,695,551 (GRCm38) L515Q probably damaging Het
Pus1 A G 5: 110,774,586 (GRCm38) L405P probably damaging Het
Qtrt2 T A 16: 43,881,032 (GRCm38) H55L probably benign Het
Rasgrp1 T C 2: 117,287,943 (GRCm38) I522V probably damaging Het
Raver2 T A 4: 101,102,663 (GRCm38) H113Q probably damaging Het
Recql4 T C 15: 76,705,565 (GRCm38) D760G unknown Het
Rhobtb3 C T 13: 75,910,741 (GRCm38) V313M probably benign Het
Rhox4d G A X: 37,518,992 (GRCm38) G191E unknown Het
Rictor C T 15: 6,772,154 (GRCm38) S441L probably benign Het
Rnf185 T C 11: 3,426,578 (GRCm38) Q135R probably benign Het
Sema3f T C 9: 107,684,036 (GRCm38) S584G probably damaging Het
Sh3pxd2a T A 19: 47,267,652 (GRCm38) T904S probably benign Het
Slc4a10 T C 2: 62,303,946 (GRCm38) V1002A probably benign Het
Taf1b T C 12: 24,504,993 (GRCm38) I55T probably benign Het
Tchh CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC 3: 93,446,708 (GRCm38) probably benign Het
Tenm4 A T 7: 96,874,213 (GRCm38) D1654V possibly damaging Het
Tgfb1 G A 7: 25,704,838 (GRCm38) V357M probably damaging Het
Tnxb C T 17: 34,703,361 (GRCm38) P2383S possibly damaging Het
Trpm1 A T 7: 64,208,975 (GRCm38) M382L probably benign Het
Trrap A G 5: 144,851,209 (GRCm38) Y3516C probably damaging Het
Txnrd1 T A 10: 82,885,233 (GRCm38) Y494* probably null Het
Ubr2 C T 17: 46,964,788 (GRCm38) E811K probably damaging Het
Ubxn4 T A 1: 128,244,543 (GRCm38) F25I possibly damaging Het
Vmn2r117 A G 17: 23,459,895 (GRCm38) M785T probably damaging Het
Vmn2r99 G A 17: 19,379,145 (GRCm38) D364N probably benign Het
Vps45 C A 3: 96,047,136 (GRCm38) probably null Het
Wdr25 A C 12: 109,026,441 (GRCm38) H426P probably damaging Het
Wdr83 A T 8: 85,079,681 (GRCm38) W136R probably damaging Het
Xylt1 A C 7: 117,592,005 (GRCm38) I343L possibly damaging Het
Zscan4b T C 7: 10,904,058 (GRCm38) Q53R possibly damaging Het
Other mutations in Crybg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00155:Crybg1 APN 10 43,992,509 (GRCm38) missense probably damaging 1.00
IGL00502:Crybg1 APN 10 43,958,313 (GRCm38) missense probably damaging 1.00
IGL00848:Crybg1 APN 10 43,967,818 (GRCm38) splice site probably null
IGL01287:Crybg1 APN 10 43,992,494 (GRCm38) missense possibly damaging 0.53
IGL01310:Crybg1 APN 10 44,003,600 (GRCm38) missense probably damaging 0.99
IGL01310:Crybg1 APN 10 43,975,058 (GRCm38) missense possibly damaging 0.95
IGL02683:Crybg1 APN 10 43,989,216 (GRCm38) missense possibly damaging 0.64
IGL03095:Crybg1 APN 10 43,989,249 (GRCm38) missense probably damaging 1.00
R0062:Crybg1 UTSW 10 43,997,906 (GRCm38) missense probably damaging 0.98
R0142:Crybg1 UTSW 10 43,999,063 (GRCm38) missense possibly damaging 0.83
R0294:Crybg1 UTSW 10 43,986,376 (GRCm38) missense probably damaging 1.00
R0539:Crybg1 UTSW 10 43,998,898 (GRCm38) missense probably benign 0.03
R0781:Crybg1 UTSW 10 43,999,093 (GRCm38) missense possibly damaging 0.95
R1110:Crybg1 UTSW 10 43,999,093 (GRCm38) missense possibly damaging 0.95
R1189:Crybg1 UTSW 10 43,998,794 (GRCm38) missense probably damaging 1.00
R1428:Crybg1 UTSW 10 43,975,078 (GRCm38) missense probably benign 0.33
R1521:Crybg1 UTSW 10 43,998,416 (GRCm38) missense probably damaging 1.00
R1688:Crybg1 UTSW 10 43,973,798 (GRCm38) missense probably damaging 1.00
R1728:Crybg1 UTSW 10 44,004,019 (GRCm38) missense probably damaging 0.97
R1756:Crybg1 UTSW 10 43,986,279 (GRCm38) missense probably damaging 1.00
R1773:Crybg1 UTSW 10 43,992,548 (GRCm38) missense possibly damaging 0.91
R1784:Crybg1 UTSW 10 44,004,019 (GRCm38) missense probably damaging 0.97
R1850:Crybg1 UTSW 10 43,997,674 (GRCm38) missense probably damaging 1.00
R1911:Crybg1 UTSW 10 43,997,677 (GRCm38) missense possibly damaging 0.47
R1920:Crybg1 UTSW 10 43,997,548 (GRCm38) missense probably damaging 1.00
R1964:Crybg1 UTSW 10 43,958,330 (GRCm38) missense probably damaging 1.00
R2298:Crybg1 UTSW 10 43,999,222 (GRCm38) missense probably damaging 1.00
R3617:Crybg1 UTSW 10 43,956,786 (GRCm38) missense possibly damaging 0.82
R3913:Crybg1 UTSW 10 43,998,763 (GRCm38) missense possibly damaging 0.95
R4081:Crybg1 UTSW 10 43,975,039 (GRCm38) missense probably damaging 1.00
R4116:Crybg1 UTSW 10 43,999,162 (GRCm38) missense possibly damaging 0.91
R4409:Crybg1 UTSW 10 43,998,758 (GRCm38) missense possibly damaging 0.94
R4583:Crybg1 UTSW 10 43,997,620 (GRCm38) missense probably damaging 1.00
R4721:Crybg1 UTSW 10 43,997,887 (GRCm38) missense probably damaging 1.00
R4818:Crybg1 UTSW 10 43,998,587 (GRCm38) missense probably benign 0.00
R4859:Crybg1 UTSW 10 43,992,569 (GRCm38) missense probably damaging 1.00
R4933:Crybg1 UTSW 10 43,999,213 (GRCm38) missense probably damaging 1.00
R5028:Crybg1 UTSW 10 43,998,212 (GRCm38) missense possibly damaging 0.74
R5057:Crybg1 UTSW 10 43,989,108 (GRCm38) nonsense probably null
R5102:Crybg1 UTSW 10 43,997,836 (GRCm38) missense probably damaging 1.00
R5103:Crybg1 UTSW 10 43,997,948 (GRCm38) missense probably damaging 1.00
R5137:Crybg1 UTSW 10 43,958,336 (GRCm38) missense probably damaging 1.00
R5212:Crybg1 UTSW 10 43,967,743 (GRCm38) missense possibly damaging 0.95
R5307:Crybg1 UTSW 10 44,003,714 (GRCm38) missense probably benign 0.00
R5353:Crybg1 UTSW 10 43,973,665 (GRCm38) missense probably damaging 1.00
R5463:Crybg1 UTSW 10 44,003,693 (GRCm38) nonsense probably null
R5503:Crybg1 UTSW 10 43,998,766 (GRCm38) missense probably benign 0.00
R5583:Crybg1 UTSW 10 44,003,510 (GRCm38) missense probably benign 0.01
R5835:Crybg1 UTSW 10 43,975,133 (GRCm38) missense probably benign 0.28
R6021:Crybg1 UTSW 10 43,997,538 (GRCm38) missense probably damaging 1.00
R6032:Crybg1 UTSW 10 43,956,760 (GRCm38) missense probably damaging 1.00
R6032:Crybg1 UTSW 10 43,956,760 (GRCm38) missense probably damaging 1.00
R6277:Crybg1 UTSW 10 43,997,259 (GRCm38) missense probably benign 0.03
R6338:Crybg1 UTSW 10 43,992,509 (GRCm38) missense probably damaging 1.00
R6348:Crybg1 UTSW 10 44,003,951 (GRCm38) missense probably damaging 1.00
R6514:Crybg1 UTSW 10 43,997,215 (GRCm38) missense probably damaging 1.00
R6785:Crybg1 UTSW 10 43,999,171 (GRCm38) missense probably benign 0.00
R6804:Crybg1 UTSW 10 43,966,341 (GRCm38) missense probably damaging 1.00
R6938:Crybg1 UTSW 10 43,997,383 (GRCm38) missense probably benign 0.01
R6983:Crybg1 UTSW 10 43,999,342 (GRCm38) missense probably damaging 1.00
R7002:Crybg1 UTSW 10 43,998,835 (GRCm38) missense probably damaging 1.00
R7153:Crybg1 UTSW 10 43,964,666 (GRCm38) missense possibly damaging 0.64
R7271:Crybg1 UTSW 10 43,997,623 (GRCm38) nonsense probably null
R7293:Crybg1 UTSW 10 44,003,432 (GRCm38) missense probably damaging 1.00
R7304:Crybg1 UTSW 10 43,997,258 (GRCm38) missense probably benign 0.05
R7313:Crybg1 UTSW 10 43,989,111 (GRCm38) missense probably damaging 0.98
R7373:Crybg1 UTSW 10 44,004,140 (GRCm38) missense probably benign 0.00
R7530:Crybg1 UTSW 10 43,999,073 (GRCm38) missense possibly damaging 0.62
R7660:Crybg1 UTSW 10 43,998,835 (GRCm38) missense probably damaging 0.97
R7701:Crybg1 UTSW 10 43,989,143 (GRCm38) missense probably benign 0.06
R8181:Crybg1 UTSW 10 43,986,326 (GRCm38) missense probably damaging 0.98
R8237:Crybg1 UTSW 10 43,966,380 (GRCm38) nonsense probably null
R8359:Crybg1 UTSW 10 43,992,542 (GRCm38) missense probably benign 0.03
R8751:Crybg1 UTSW 10 44,004,842 (GRCm38) missense probably benign 0.04
R8809:Crybg1 UTSW 10 44,003,432 (GRCm38) missense probably damaging 1.00
R9017:Crybg1 UTSW 10 44,004,481 (GRCm38) missense probably benign 0.00
R9069:Crybg1 UTSW 10 43,998,107 (GRCm38) missense probably benign 0.30
R9099:Crybg1 UTSW 10 43,998,848 (GRCm38) missense probably benign 0.01
R9118:Crybg1 UTSW 10 44,003,929 (GRCm38) missense possibly damaging 0.56
R9185:Crybg1 UTSW 10 44,004,095 (GRCm38) missense probably benign 0.04
R9486:Crybg1 UTSW 10 44,004,149 (GRCm38) start gained probably benign
R9561:Crybg1 UTSW 10 43,997,432 (GRCm38) missense probably benign 0.00
RF005:Crybg1 UTSW 10 44,004,745 (GRCm38) missense probably benign 0.03
RF024:Crybg1 UTSW 10 44,004,745 (GRCm38) missense probably benign 0.03
X0065:Crybg1 UTSW 10 43,992,526 (GRCm38) synonymous silent
Z1088:Crybg1 UTSW 10 43,997,311 (GRCm38) missense probably benign
Predicted Primers PCR Primer
(F):5'- CAACGTTAGCACTTTGGTGGG -3'
(R):5'- ACTAAAGGCAACCGACGCTG -3'

Sequencing Primer
(F):5'- TCACCTGGAGGAACCGC -3'
(R):5'- AACCGACGCTGGCGAGG -3'
Posted On 2019-10-07