Incidental Mutation 'R9185:Crybg1'
ID 697325
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 # R9185 (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 43880091 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 366 (T366S)
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: T366S

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000143429
Gene: ENSMUSG00000019866
AA Change: T366S

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: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (71/71)
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm2 A G 7: 119,177,421 (GRCm39) H312R possibly damaging Het
Aloxe3 T C 11: 69,025,114 (GRCm39) F409S probably damaging Het
Arfgef1 T A 1: 10,215,004 (GRCm39) N1630I probably damaging Het
Catsperd G A 17: 56,968,252 (GRCm39) D546N probably benign Het
Cbl A G 9: 44,064,137 (GRCm39) S800P probably damaging Het
Ccne1 A T 7: 37,799,255 (GRCm39) S220T probably benign Het
Cd177 T C 7: 24,443,668 (GRCm39) Y810C probably benign Het
Cercam T C 2: 29,766,033 (GRCm39) V304A possibly damaging Het
Cfap100 T C 6: 90,390,416 (GRCm39) T75A Het
Clcn4 T A 7: 7,287,197 (GRCm39) I744F possibly damaging Het
Col15a1 G C 4: 47,288,200 (GRCm39) probably benign Het
Col27a1 A G 4: 63,246,887 (GRCm39) N1670S unknown Het
Cps1 G A 1: 67,248,831 (GRCm39) R1186Q probably benign Het
Cr1l C A 1: 194,797,053 (GRCm39) C328F probably damaging Het
Ctbp2 A T 7: 132,615,712 (GRCm39) S408T probably damaging Het
Dync1h1 T C 12: 110,601,937 (GRCm39) S1992P probably benign Het
Glyatl3 A T 17: 41,225,234 (GRCm39) V3E probably damaging Het
Gse1 T C 8: 121,294,908 (GRCm39) M343T possibly damaging Het
Gys2 T C 6: 142,405,112 (GRCm39) D225G probably damaging Het
Hecw1 T C 13: 14,491,628 (GRCm39) S42G probably damaging Het
Helz2 A G 2: 180,871,883 (GRCm39) C2673R probably benign Het
Hivep1 G A 13: 42,337,975 (GRCm39) V2685I possibly damaging Het
Icam5 A G 9: 20,950,165 (GRCm39) E908G probably damaging Het
Kcne1 A T 16: 92,145,796 (GRCm39) L16Q possibly damaging Het
Kcnk5 G T 14: 20,195,135 (GRCm39) Y118* probably null Het
Kctd11 T C 11: 69,770,676 (GRCm39) T121A possibly damaging Het
Mier3 T C 13: 111,851,260 (GRCm39) V414A probably benign Het
Mindy4 T C 6: 55,295,261 (GRCm39) S734P possibly damaging Het
Mrps26 T C 2: 130,405,769 (GRCm39) V24A probably benign Het
Mug2 C G 6: 122,054,442 (GRCm39) Q1074E probably benign Het
Myo15b T C 11: 115,771,255 (GRCm39) S1P unknown Het
Ninj1 A T 13: 49,344,726 (GRCm39) T81S probably benign Het
Nod2 A T 8: 89,391,880 (GRCm39) H729L probably damaging Het
Nr1i3 G A 1: 171,043,955 (GRCm39) V49I possibly damaging Het
Olfm5 G A 7: 103,810,095 (GRCm39) Q89* probably null Het
Or10ag52 A T 2: 87,044,174 (GRCm39) T313S probably benign Het
Or2n1b A T 17: 38,459,754 (GRCm39) I92F probably damaging Het
Or2y12 T C 11: 49,426,501 (GRCm39) V163A probably benign Het
Or4e1 A G 14: 52,700,984 (GRCm39) S161P probably benign Het
Or51a25 C T 7: 102,373,409 (GRCm39) R96H possibly damaging Het
Or5aq6 A C 2: 86,923,200 (GRCm39) D180E possibly damaging Het
Or5b124 A T 19: 13,610,765 (GRCm39) T97S probably benign Het
Or8g53 T A 9: 39,683,404 (GRCm39) T231S probably benign Het
Pde4dip T A 3: 97,666,132 (GRCm39) T371S probably benign Het
Pkhd1l1 T A 15: 44,453,019 (GRCm39) S3981R probably benign Het
Plxnd1 G T 6: 115,934,526 (GRCm39) F1802L probably damaging Het
Pramel22 T C 4: 143,381,898 (GRCm39) N266S probably benign Het
Prcp A G 7: 92,582,257 (GRCm39) H449R probably benign Het
Prrc2c A G 1: 162,532,212 (GRCm39) W1468R unknown Het
Rcvrn A G 11: 67,586,480 (GRCm39) T80A possibly damaging Het
Rhou T C 8: 124,387,793 (GRCm39) L175P probably damaging Het
Sacs T C 14: 61,444,115 (GRCm39) S2054P probably damaging Het
Slc22a30 A G 19: 8,321,917 (GRCm39) S414P probably benign Het
Slc2a13 T A 15: 91,227,906 (GRCm39) S429C probably damaging Het
Slc35b3 A G 13: 39,123,958 (GRCm39) probably benign Het
Smyd3 A G 1: 178,877,854 (GRCm39) probably null Het
Strip1 T A 3: 107,535,530 (GRCm39) E64D probably damaging Het
Sumf2 T G 5: 129,875,909 (GRCm39) C25G possibly damaging Het
Syngap1 A C 17: 27,182,057 (GRCm39) D1190A possibly damaging Het
Tas2r139 C T 6: 42,118,099 (GRCm39) T77I probably benign Het
Tbce A T 13: 14,173,027 (GRCm39) V468D probably damaging Het
Tmem191 G A 16: 17,094,302 (GRCm39) R42H probably damaging Het
Tmem200c T C 17: 69,147,633 (GRCm39) V72A probably damaging Het
Ttc28 T G 5: 111,371,342 (GRCm39) F628C probably benign Het
Wsb2 G A 5: 117,501,736 (GRCm39) V34M possibly damaging Het
Zfand6 A G 7: 84,283,558 (GRCm39) S15P probably damaging Het
Zfp964 A G 8: 70,115,873 (GRCm39) N158D possibly damaging Het
Zic1 G T 9: 91,246,542 (GRCm39) Q177K probably benign Het
Zswim4 T C 8: 84,963,633 (GRCm39) M1V probably null 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
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
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'- TTTCCGCCAAGCAGTTCTCAG -3'
(R):5'- ATTCCTCACCAGGGAATCGC -3'

Sequencing Primer
(F):5'- AAGCAGTTCTCAGCCGCAG -3'
(R):5'- AGGAAGCGTTGCCTGGC -3'
Posted On 2022-02-07