Incidental Mutation 'R9099:Crybg1'
ID 691555
Institutional Source Beutler Lab
Gene Symbol Crybg1
Ensembl Gene ENSMUSG00000019866
Gene Name crystallin beta-gamma domain containing 1
Synonyms Aim1
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9099 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 43826632-44024849 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 43874844 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 755 (V755I)
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: V381I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000020017
Gene: ENSMUSG00000019866
AA Change: V381I

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: V755I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000143429
Gene: ENSMUSG00000019866
AA Change: V755I

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 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 94% (61/65)
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b A T 11: 109,871,708 (GRCm39) M90K probably damaging Het
Actn2 T C 13: 12,303,516 (GRCm39) D428G probably damaging Het
Arrb1 T C 7: 99,243,836 (GRCm39) V262A probably damaging Het
Bok A G 1: 93,622,661 (GRCm39) I102V Het
C87436 T A 6: 86,439,567 (GRCm39) F419L probably damaging Het
Capn15 A G 17: 26,192,141 (GRCm39) C34R probably benign Het
Ccdc8 T A 7: 16,728,800 (GRCm39) Y96* probably null Het
Cd274 T A 19: 29,357,771 (GRCm39) C154* probably null Het
Cfap251 A G 5: 123,418,082 (GRCm39) probably benign Het
Ckap4 A T 10: 84,369,402 (GRCm39) L110Q probably damaging Het
Col26a1 A T 5: 136,777,202 (GRCm39) D335E probably benign Het
Dhx38 A T 8: 110,282,783 (GRCm39) Y628N probably damaging Het
Dnah12 A T 14: 26,492,325 (GRCm39) K1155M probably benign Het
Ei24 A G 9: 36,697,270 (GRCm39) F153L probably damaging Het
Erg T A 16: 95,178,188 (GRCm39) E246D probably benign Het
Exoc6b T C 6: 84,982,000 (GRCm39) N99D possibly damaging Het
Fam222b G T 11: 78,046,020 (GRCm39) R527L probably damaging Het
Fam83h T C 15: 75,875,135 (GRCm39) Y734C probably damaging Het
Fbxo43 T C 15: 36,162,619 (GRCm39) E196G possibly damaging Het
Gata5 G A 2: 179,976,131 (GRCm39) P11L possibly damaging Het
Gbp3 A T 3: 142,271,048 (GRCm39) S151C probably benign Het
Gli3 T C 13: 15,901,320 (GRCm39) L1569P probably damaging Het
Helz G A 11: 107,523,041 (GRCm39) V742M probably damaging Het
Ifi27l2b A T 12: 103,418,114 (GRCm39) N175K unknown Het
Itga1 A T 13: 115,185,856 (GRCm39) Y49N probably damaging Het
Kcnk2 T C 1: 188,991,072 (GRCm39) T167A probably damaging Het
Kirrel2 T A 7: 30,147,642 (GRCm39) T669S probably benign Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Lrit2 A T 14: 36,790,812 (GRCm39) T164S possibly damaging Het
Lrriq1 A G 10: 103,051,864 (GRCm39) V296A probably damaging Het
Malsu1 C T 6: 49,050,731 (GRCm39) probably benign Het
Moxd1 G A 10: 24,155,762 (GRCm39) V289I probably damaging Het
Nfs1 C T 2: 155,968,934 (GRCm39) G380E probably damaging Het
Nol4l C A 2: 153,312,630 (GRCm39) R226L probably damaging Het
Nsmaf CAAACTTTTAAACTT CAAACTT 4: 6,416,543 (GRCm39) probably null Het
Nup98 T A 7: 101,844,173 (GRCm39) N54I probably damaging Het
Or7g21 C T 9: 19,032,890 (GRCm39) P210L probably benign Het
Or8g22 A T 9: 38,958,026 (GRCm39) C230S probably benign Het
Or8g53 A G 9: 39,683,514 (GRCm39) I194T Het
Otoa T A 7: 120,739,055 (GRCm39) F755I probably benign Het
P4htm A T 9: 108,460,911 (GRCm39) M187K probably benign Het
Phldb3 C T 7: 24,323,727 (GRCm39) R453C probably benign Het
Pkd1l1 C T 11: 8,922,986 (GRCm39) A94T Het
Pkp1 A G 1: 135,805,429 (GRCm39) F669S probably benign Het
Prl8a2 C G 13: 27,536,793 (GRCm39) Y138* probably null Het
Prl8a2 T A 13: 27,536,794 (GRCm39) Y139N probably benign Het
Rtn4r T A 16: 17,969,068 (GRCm39) N165K probably benign Het
Scaper G T 9: 55,669,616 (GRCm39) D353E probably damaging Het
Scn4a G T 11: 106,211,000 (GRCm39) D1672E probably damaging Het
She A G 3: 89,739,078 (GRCm39) S90G probably benign Het
Shmt2 A T 10: 127,355,962 (GRCm39) D130E possibly damaging Het
Slc2a12 T A 10: 22,569,923 (GRCm39) I538K possibly damaging Het
Snx29 T A 16: 11,478,435 (GRCm39) W322R probably damaging Het
Spp1 A G 5: 104,588,387 (GRCm39) D263G probably benign Het
Srek1ip1 T C 13: 104,973,964 (GRCm39) S124P possibly damaging Het
Tcp10b C T 17: 13,280,656 (GRCm39) probably benign Het
Thap12 T C 7: 98,364,600 (GRCm39) F256S probably damaging Het
Tpte T C 8: 22,845,497 (GRCm39) Y516H Het
Trem1 C A 17: 48,544,271 (GRCm39) Q99K possibly damaging Het
Umodl1 C T 17: 31,178,147 (GRCm39) P41L probably benign Het
Upp2 T C 2: 58,457,542 (GRCm39) probably null Het
Zfand1 A T 3: 10,406,148 (GRCm39) M181K probably damaging Het
Zfp292 T C 4: 34,809,228 (GRCm39) E1277G possibly damaging Het
Zfp458 G T 13: 67,405,696 (GRCm39) P248T probably damaging Het
Zfp667 T A 7: 6,308,322 (GRCm39) M330K probably benign Het
Zfp827 A G 8: 79,917,107 (GRCm39) T561A Het
Zfp947 C T 17: 22,364,855 (GRCm39) G273D 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
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
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'- TGGCTGTGAGTCAGAAAATGC -3'
(R):5'- CGAAAAGAAAGCTGTGTCAACC -3'

Sequencing Primer
(F):5'- TCAGAAAATGCATCCTGTGGC -3'
(R):5'- TGGTCAAAGAGCCATCTGC -3'
Posted On 2021-12-30