Incidental Mutation 'R7002:Crybg1'
ID 544609
Institutional Source Beutler Lab
Gene Symbol Crybg1
Ensembl Gene ENSMUSG00000019866
Gene Name crystallin beta-gamma domain containing 1
Synonyms Aim1
MMRRC Submission 045107-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7002 (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 43874831 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 759 (D759V)
Ref Sequence ENSEMBL: ENSMUSP00000143429 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020017] [ENSMUST00000200401]
AlphaFold A0A0G2JG52
Predicted Effect probably damaging
Transcript: ENSMUST00000020017
AA Change: D385V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000020017
Gene: ENSMUSG00000019866
AA Change: D385V

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 damaging
Transcript: ENSMUST00000200401
AA Change: D759V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143429
Gene: ENSMUSG00000019866
AA Change: D759V

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: 99.1%
Validation Efficiency 100% (73/73)
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b A G 11: 109,832,390 (GRCm39) S1308P probably damaging Het
Abl2 A T 1: 156,386,703 (GRCm39) R29W probably damaging Het
Adam6b C A 12: 113,453,327 (GRCm39) S48* probably null Het
Adamts18 T A 8: 114,501,922 (GRCm39) D313V possibly damaging Het
Aoc1 A G 6: 48,882,810 (GRCm39) S229G probably benign Het
Apol10a G A 15: 77,369,046 (GRCm39) R15H possibly damaging Het
Bend4 T A 5: 67,555,602 (GRCm39) T535S probably benign Het
Blm T C 7: 80,119,501 (GRCm39) K1024R probably benign Het
Brca2 T C 5: 150,463,383 (GRCm39) V1049A probably benign Het
Cerk T C 15: 86,040,795 (GRCm39) Y188C possibly damaging Het
Cic C T 7: 24,971,621 (GRCm39) R451C probably damaging Het
Col18a1 A T 10: 77,002,177 (GRCm39) V10E unknown Het
Cplx1 T A 5: 108,668,182 (GRCm39) K58M probably damaging Het
Cwc25 A T 11: 97,638,897 (GRCm39) N342K probably damaging Het
Dab2 A T 15: 6,464,846 (GRCm39) T566S probably benign Het
Depdc5 G A 5: 33,034,502 (GRCm39) probably null Het
Dip2b T A 15: 100,058,346 (GRCm39) N408K probably benign Het
Dnah12 T C 14: 26,598,955 (GRCm39) I3631T probably damaging Het
Dnase1 A G 16: 3,857,410 (GRCm39) I236V possibly damaging Het
Duox1 C T 2: 122,150,358 (GRCm39) Q196* probably null Het
Eef2k G A 7: 120,491,155 (GRCm39) R547Q probably benign Het
Erich5 C T 15: 34,471,508 (GRCm39) L246F probably damaging Het
Frmpd1 C T 4: 45,284,200 (GRCm39) A1007V probably benign Het
Fsip2 T A 2: 82,819,687 (GRCm39) I5140N possibly damaging Het
Gan T C 8: 117,922,586 (GRCm39) C440R possibly damaging Het
Garnl3 T A 2: 32,944,205 (GRCm39) H73L possibly damaging Het
Gid8 T G 2: 180,355,096 (GRCm39) M34R possibly damaging Het
Gjd4 C A 18: 9,280,960 (GRCm39) L39F possibly damaging Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
Grhpr T C 4: 44,990,427 (GRCm39) S306P probably damaging Het
H2bc21 A G 3: 96,128,689 (GRCm39) I70V probably benign Het
Hdac4 T G 1: 91,896,083 (GRCm39) K729T possibly damaging Het
Igfbp2 C T 1: 72,888,804 (GRCm39) H85Y probably damaging Het
Igkv4-61 T G 6: 69,394,373 (GRCm39) I13L probably benign Het
Il18r1 G A 1: 40,514,013 (GRCm39) S73N probably benign Het
Immt T C 6: 71,838,024 (GRCm39) V244A probably damaging Het
Irs1 T C 1: 82,265,981 (GRCm39) Y745C probably benign Het
Itpr3 T C 17: 27,329,554 (GRCm39) V1526A probably benign Het
Jrkl A T 9: 13,245,526 (GRCm39) I45K probably damaging Het
Lamp3 G T 16: 19,474,172 (GRCm39) Q401K possibly damaging Het
Lrrfip1 T A 1: 91,043,180 (GRCm39) H528Q probably benign Het
Ltn1 A T 16: 87,220,361 (GRCm39) D245E probably benign Het
Mmut T A 17: 41,252,274 (GRCm39) I272N possibly damaging Het
Mnat1 T C 12: 73,277,479 (GRCm39) probably benign Het
Mprip A C 11: 59,652,016 (GRCm39) M1907L probably benign Het
Nfu1 C A 6: 86,993,254 (GRCm39) H131Q probably benign Het
Nup188 T A 2: 30,213,580 (GRCm39) S670R probably damaging Het
Or5b120 A G 19: 13,480,039 (GRCm39) N111D probably benign Het
Or8k40 T C 2: 86,585,025 (GRCm39) D19G probably benign Het
Pals2 C T 6: 50,139,642 (GRCm39) P116L probably benign Het
Parp4 T A 14: 56,839,861 (GRCm39) V523E probably damaging Het
Pbrm1 T A 14: 30,786,777 (GRCm39) D631E probably benign Het
Prss40 A T 1: 34,591,481 (GRCm39) probably null Het
Rnf13 A G 3: 57,741,033 (GRCm39) N274S probably damaging Het
Rtl1 T A 12: 109,560,381 (GRCm39) Y486F probably damaging Het
Sec14l3 A T 11: 4,025,263 (GRCm39) H291L possibly damaging Het
Senp5 A G 16: 31,802,593 (GRCm39) S532P probably damaging Het
Sepsecs T C 5: 52,804,550 (GRCm39) probably null Het
Serpina1e T C 12: 103,914,338 (GRCm39) I329V probably benign Het
Slc10a4-ps T A 5: 72,743,763 (GRCm39) probably null Het
Slc35f3 CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC 8: 127,115,773 (GRCm39) unknown Het
Smc5 A G 19: 23,209,247 (GRCm39) V639A probably benign Het
Speg T A 1: 75,399,912 (GRCm39) V2453E probably damaging Het
Syt2 T A 1: 134,671,842 (GRCm39) F207I probably damaging Het
Tchp C T 5: 114,846,857 (GRCm39) S48L probably benign Het
Trim12a A G 7: 103,953,383 (GRCm39) S243P possibly damaging Het
Ttn T C 2: 76,628,561 (GRCm39) E14533G probably damaging Het
Vmn1r50 T A 6: 90,084,819 (GRCm39) M188K probably benign Het
Vps11 G A 9: 44,266,376 (GRCm39) T437I probably damaging Het
Xrn1 C T 9: 95,929,843 (GRCm39) T1498I probably benign Het
Zfp236 A G 18: 82,709,701 (GRCm39) probably null Het
Zfp316 T C 5: 143,249,110 (GRCm39) D175G unknown Het
Zmynd11 A G 13: 9,744,366 (GRCm39) L256P probably damaging 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
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'- GAGATGACTCCCTAGCTGACTC -3'
(R):5'- CTGGTGGTCAAAGAGCCATC -3'

Sequencing Primer
(F):5'- TGACTCAGCCGCTGAAGC -3'
(R):5'- TGGTCAAAGAGCCATCTGCAG -3'
Posted On 2019-05-13