Incidental Mutation 'R9641:Crybg2'
ID |
725969 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Crybg2
|
Ensembl Gene |
ENSMUSG00000012123 |
Gene Name |
crystallin beta-gamma domain containing 2 |
Synonyms |
Aim1l |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.876)
|
Stock # |
R9641 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
133788126-133819815 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 133816620 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 1353
(Q1353*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114099
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000696]
[ENSMUST00000121391]
[ENSMUST00000149956]
[ENSMUST00000227683]
|
AlphaFold |
A0A2I3BQG2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000000696
|
SMART Domains |
Protein: ENSMUSP00000000696 Gene: ENSMUSG00000000682
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
Pfam:CD52
|
23 |
74 |
1.4e-24 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000121391
AA Change: Q1353*
|
SMART Domains |
Protein: ENSMUSP00000114099 Gene: ENSMUSG00000012123 AA Change: Q1353*
Domain | Start | End | E-Value | Type |
low complexity region
|
171 |
205 |
N/A |
INTRINSIC |
low complexity region
|
210 |
226 |
N/A |
INTRINSIC |
low complexity region
|
414 |
443 |
N/A |
INTRINSIC |
low complexity region
|
560 |
582 |
N/A |
INTRINSIC |
low complexity region
|
608 |
625 |
N/A |
INTRINSIC |
coiled coil region
|
683 |
703 |
N/A |
INTRINSIC |
low complexity region
|
812 |
824 |
N/A |
INTRINSIC |
XTALbg
|
842 |
921 |
2.56e-7 |
SMART |
XTALbg
|
929 |
1010 |
9.33e-10 |
SMART |
XTALbg
|
1024 |
1110 |
5.06e-29 |
SMART |
XTALbg
|
1118 |
1199 |
1.4e-22 |
SMART |
XTALbg
|
1212 |
1291 |
2.22e-16 |
SMART |
XTALbg
|
1299 |
1379 |
1.69e-16 |
SMART |
RICIN
|
1383 |
1514 |
7.89e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149956
|
SMART Domains |
Protein: ENSMUSP00000123349 Gene: ENSMUSG00000012123
Domain | Start | End | E-Value | Type |
XTALbg
|
1 |
60 |
1.39e-2 |
SMART |
XTALbg
|
62 |
148 |
3.99e-27 |
SMART |
XTALbg
|
156 |
237 |
1.4e-22 |
SMART |
XTALbg
|
250 |
293 |
7.78e-2 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000227683
AA Change: Q1662*
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017N19Rik |
T |
C |
10: 100,430,498 (GRCm39) |
F52L |
possibly damaging |
Het |
Abca16 |
T |
C |
7: 120,126,308 (GRCm39) |
C1156R |
possibly damaging |
Het |
Abcg3 |
A |
C |
5: 105,084,483 (GRCm39) |
S571A |
probably benign |
Het |
Abi3 |
C |
A |
11: 95,724,503 (GRCm39) |
L259F |
unknown |
Het |
Adam19 |
A |
T |
11: 46,027,149 (GRCm39) |
D594V |
probably damaging |
Het |
Adam34 |
C |
T |
8: 44,104,076 (GRCm39) |
S523N |
probably damaging |
Het |
Adam6b |
G |
T |
12: 113,454,176 (GRCm39) |
C331F |
probably benign |
Het |
Adamts14 |
A |
T |
10: 61,106,829 (GRCm39) |
V97E |
probably damaging |
Het |
Adipor1 |
T |
C |
1: 134,355,878 (GRCm39) |
Y226H |
probably damaging |
Het |
Alox12e |
T |
C |
11: 70,212,261 (GRCm39) |
Y139C |
probably damaging |
Het |
Ankrd53 |
A |
G |
6: 83,740,692 (GRCm39) |
D160G |
possibly damaging |
Het |
Ap1m1 |
A |
T |
8: 73,003,606 (GRCm39) |
Y94F |
probably damaging |
Het |
Arhgef28 |
A |
C |
13: 98,078,983 (GRCm39) |
D1314E |
probably benign |
Het |
Bicc1 |
A |
G |
10: 70,863,772 (GRCm39) |
I90T |
probably benign |
Het |
Celf6 |
A |
G |
9: 59,485,833 (GRCm39) |
D58G |
probably damaging |
Het |
Cfap74 |
T |
C |
4: 155,549,054 (GRCm39) |
S38P |
unknown |
Het |
Cps1 |
A |
G |
1: 67,234,342 (GRCm39) |
I910V |
probably benign |
Het |
Cracdl |
C |
T |
1: 37,663,592 (GRCm39) |
A769T |
possibly damaging |
Het |
Cyp4f39 |
T |
C |
17: 32,705,982 (GRCm39) |
Y358H |
probably damaging |
Het |
Dcp1a |
T |
A |
14: 30,241,132 (GRCm39) |
I314N |
probably damaging |
Het |
Dgki |
A |
C |
6: 37,126,489 (GRCm39) |
W164G |
probably damaging |
Het |
Dnah8 |
A |
G |
17: 30,932,029 (GRCm39) |
I1466V |
probably benign |
Het |
Efcab6 |
T |
A |
15: 83,763,676 (GRCm39) |
R1219W |
probably damaging |
Het |
Faap24 |
A |
T |
7: 35,094,494 (GRCm39) |
F102Y |
probably damaging |
Het |
Fam186a |
T |
C |
15: 99,838,244 (GRCm39) |
T2667A |
probably benign |
Het |
Frem1 |
C |
T |
4: 82,877,653 (GRCm39) |
G1308D |
probably damaging |
Het |
Hectd1 |
T |
C |
12: 51,816,047 (GRCm39) |
T1347A |
probably benign |
Het |
Hipk3 |
A |
T |
2: 104,267,376 (GRCm39) |
H620Q |
probably benign |
Het |
Hpd |
A |
G |
5: 123,310,052 (GRCm39) |
S391P |
probably benign |
Het |
Ino80 |
A |
G |
2: 119,275,965 (GRCm39) |
V437A |
probably benign |
Het |
Itgax |
G |
T |
7: 127,741,152 (GRCm39) |
G785C |
probably damaging |
Het |
Kcnk18 |
C |
T |
19: 59,223,266 (GRCm39) |
T137I |
probably damaging |
Het |
Kif16b |
A |
G |
2: 142,542,589 (GRCm39) |
F236L |
probably benign |
Het |
Lamb1 |
T |
C |
12: 31,337,457 (GRCm39) |
M396T |
probably damaging |
Het |
Lrfn5 |
C |
A |
12: 61,886,540 (GRCm39) |
N109K |
probably damaging |
Het |
Lrrc15 |
T |
A |
16: 30,093,006 (GRCm39) |
N111I |
probably damaging |
Het |
Lrrk2 |
A |
T |
15: 91,671,251 (GRCm39) |
I2011F |
possibly damaging |
Het |
Lsr |
A |
G |
7: 30,658,285 (GRCm39) |
I336T |
probably damaging |
Het |
Mettl21e |
T |
A |
1: 44,250,351 (GRCm39) |
R18S |
probably benign |
Het |
Mrpl22 |
T |
C |
11: 58,068,047 (GRCm39) |
L115P |
probably damaging |
Het |
N4bp2 |
T |
A |
5: 65,948,035 (GRCm39) |
S222T |
probably benign |
Het |
Nat2 |
A |
G |
8: 67,954,522 (GRCm39) |
T211A |
probably benign |
Het |
Nbeal1 |
T |
A |
1: 60,350,247 (GRCm39) |
I2432N |
probably damaging |
Het |
Neb |
A |
G |
2: 52,112,783 (GRCm39) |
I1158T |
|
Het |
Nrip3 |
C |
T |
7: 109,362,793 (GRCm39) |
E164K |
probably damaging |
Het |
Obox6 |
G |
A |
7: 15,568,742 (GRCm39) |
Q45* |
probably null |
Het |
Ola1 |
T |
C |
2: 73,033,784 (GRCm39) |
N44D |
probably benign |
Het |
Or1x6 |
C |
T |
11: 50,939,207 (GRCm39) |
T91M |
probably benign |
Het |
Or2y1c |
T |
C |
11: 49,361,509 (GRCm39) |
F177S |
probably damaging |
Het |
Or5b111 |
A |
T |
19: 13,291,100 (GRCm39) |
M183K |
probably damaging |
Het |
Or5d39 |
A |
T |
2: 87,980,255 (GRCm39) |
I36N |
possibly damaging |
Het |
Or5p81 |
A |
T |
7: 108,267,516 (GRCm39) |
N298Y |
probably damaging |
Het |
Or6ae1 |
A |
G |
7: 139,742,771 (GRCm39) |
F31L |
probably benign |
Het |
Or8b51 |
T |
A |
9: 38,568,915 (GRCm39) |
M258L |
probably benign |
Het |
Pde10a |
A |
G |
17: 9,197,816 (GRCm39) |
K753R |
|
Het |
Phldb1 |
T |
C |
9: 44,627,839 (GRCm39) |
D202G |
probably damaging |
Het |
Pik3cb |
T |
C |
9: 98,955,789 (GRCm39) |
N376S |
probably benign |
Het |
Plekhh2 |
A |
G |
17: 84,874,130 (GRCm39) |
N472D |
probably damaging |
Het |
Ppp4r4 |
T |
A |
12: 103,567,811 (GRCm39) |
F708Y |
probably benign |
Het |
Rnf157 |
A |
G |
11: 116,303,576 (GRCm39) |
V12A |
probably benign |
Het |
Saa3 |
T |
C |
7: 46,364,494 (GRCm39) |
I11V |
probably benign |
Het |
Sall2 |
T |
C |
14: 52,550,882 (GRCm39) |
E771G |
probably damaging |
Het |
Sar1b |
C |
T |
11: 51,670,573 (GRCm39) |
T39I |
probably damaging |
Het |
Scn10a |
A |
T |
9: 119,445,869 (GRCm39) |
L1428Q |
possibly damaging |
Het |
Sema3f |
A |
G |
9: 107,565,454 (GRCm39) |
I213T |
unknown |
Het |
Serpina3m |
C |
T |
12: 104,360,085 (GRCm39) |
Q386* |
probably null |
Het |
Sh3gl3 |
G |
A |
7: 81,909,370 (GRCm39) |
G26R |
probably damaging |
Het |
Shq1 |
T |
C |
6: 100,550,633 (GRCm39) |
E435G |
probably damaging |
Het |
Sidt2 |
G |
T |
9: 45,864,495 (GRCm39) |
A78E |
probably benign |
Het |
Sin3b |
A |
G |
8: 73,477,187 (GRCm39) |
Y818C |
probably damaging |
Het |
Smarca2 |
C |
T |
19: 26,656,498 (GRCm39) |
L825F |
possibly damaging |
Het |
Srgn |
T |
A |
10: 62,330,884 (GRCm39) |
M74L |
probably benign |
Het |
Tbc1d22b |
A |
C |
17: 29,813,747 (GRCm39) |
D360A |
possibly damaging |
Het |
Tbx4 |
A |
G |
11: 85,803,128 (GRCm39) |
R335G |
probably damaging |
Het |
Tmem144 |
T |
C |
3: 79,734,200 (GRCm39) |
N168D |
probably benign |
Het |
Trip11 |
G |
A |
12: 101,859,957 (GRCm39) |
Q307* |
probably null |
Het |
Ttyh2 |
T |
C |
11: 114,598,516 (GRCm39) |
Y296H |
probably damaging |
Het |
Vmn1r236 |
G |
T |
17: 21,507,043 (GRCm39) |
V54F |
probably benign |
Het |
Xrra1 |
A |
C |
7: 99,561,088 (GRCm39) |
H443P |
probably benign |
Het |
Zc3h12a |
T |
C |
4: 125,014,852 (GRCm39) |
T211A |
probably damaging |
Het |
Zfp386 |
T |
G |
12: 116,023,330 (GRCm39) |
D349E |
probably benign |
Het |
Zkscan16 |
T |
A |
4: 58,956,577 (GRCm39) |
H286Q |
probably benign |
Het |
Znrf2 |
C |
T |
6: 54,861,788 (GRCm39) |
P233L |
probably damaging |
Het |
|
Other mutations in Crybg2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01083:Crybg2
|
APN |
4 |
133,802,755 (GRCm39) |
missense |
possibly damaging |
0.57 |
IGL01147:Crybg2
|
APN |
4 |
133,816,575 (GRCm39) |
splice site |
probably null |
|
IGL02003:Crybg2
|
APN |
4 |
133,799,767 (GRCm39) |
missense |
probably benign |
|
IGL02468:Crybg2
|
APN |
4 |
133,809,898 (GRCm39) |
missense |
probably damaging |
1.00 |
R0089:Crybg2
|
UTSW |
4 |
133,808,505 (GRCm39) |
missense |
probably damaging |
1.00 |
R0414:Crybg2
|
UTSW |
4 |
133,799,947 (GRCm39) |
small deletion |
probably benign |
|
R0579:Crybg2
|
UTSW |
4 |
133,800,049 (GRCm39) |
missense |
probably damaging |
0.97 |
R0634:Crybg2
|
UTSW |
4 |
133,802,615 (GRCm39) |
splice site |
probably benign |
|
R0638:Crybg2
|
UTSW |
4 |
133,801,765 (GRCm39) |
missense |
probably damaging |
1.00 |
R0686:Crybg2
|
UTSW |
4 |
133,801,837 (GRCm39) |
small deletion |
probably benign |
|
R1583:Crybg2
|
UTSW |
4 |
133,808,770 (GRCm39) |
missense |
probably damaging |
1.00 |
R1651:Crybg2
|
UTSW |
4 |
133,802,214 (GRCm39) |
missense |
probably benign |
0.07 |
R1651:Crybg2
|
UTSW |
4 |
133,802,136 (GRCm39) |
missense |
possibly damaging |
0.84 |
R1752:Crybg2
|
UTSW |
4 |
133,800,961 (GRCm39) |
missense |
probably damaging |
0.96 |
R1883:Crybg2
|
UTSW |
4 |
133,801,594 (GRCm39) |
nonsense |
probably null |
|
R1903:Crybg2
|
UTSW |
4 |
133,806,167 (GRCm39) |
missense |
probably damaging |
1.00 |
R2042:Crybg2
|
UTSW |
4 |
133,814,844 (GRCm39) |
missense |
possibly damaging |
0.89 |
R2081:Crybg2
|
UTSW |
4 |
133,816,131 (GRCm39) |
missense |
possibly damaging |
0.82 |
R2229:Crybg2
|
UTSW |
4 |
133,801,837 (GRCm39) |
small deletion |
probably benign |
|
R2321:Crybg2
|
UTSW |
4 |
133,801,822 (GRCm39) |
missense |
probably benign |
0.38 |
R2392:Crybg2
|
UTSW |
4 |
133,799,925 (GRCm39) |
missense |
probably benign |
0.01 |
R2939:Crybg2
|
UTSW |
4 |
133,809,745 (GRCm39) |
missense |
possibly damaging |
0.46 |
R2940:Crybg2
|
UTSW |
4 |
133,809,745 (GRCm39) |
missense |
possibly damaging |
0.46 |
R3028:Crybg2
|
UTSW |
4 |
133,801,095 (GRCm39) |
missense |
probably benign |
0.19 |
R4458:Crybg2
|
UTSW |
4 |
133,802,205 (GRCm39) |
missense |
probably benign |
0.32 |
R4487:Crybg2
|
UTSW |
4 |
133,801,512 (GRCm39) |
missense |
probably benign |
0.00 |
R4680:Crybg2
|
UTSW |
4 |
133,800,029 (GRCm39) |
frame shift |
probably null |
|
R4681:Crybg2
|
UTSW |
4 |
133,800,029 (GRCm39) |
frame shift |
probably null |
|
R4682:Crybg2
|
UTSW |
4 |
133,800,029 (GRCm39) |
frame shift |
probably null |
|
R4766:Crybg2
|
UTSW |
4 |
133,816,663 (GRCm39) |
missense |
probably damaging |
1.00 |
R5079:Crybg2
|
UTSW |
4 |
133,801,564 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5291:Crybg2
|
UTSW |
4 |
133,800,738 (GRCm39) |
missense |
probably benign |
0.00 |
R5453:Crybg2
|
UTSW |
4 |
133,806,147 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5711:Crybg2
|
UTSW |
4 |
133,809,938 (GRCm39) |
missense |
probably damaging |
0.97 |
R5834:Crybg2
|
UTSW |
4 |
133,801,434 (GRCm39) |
missense |
probably benign |
0.12 |
R5969:Crybg2
|
UTSW |
4 |
133,803,003 (GRCm39) |
splice site |
probably null |
|
R5976:Crybg2
|
UTSW |
4 |
133,801,837 (GRCm39) |
small deletion |
probably benign |
|
R6022:Crybg2
|
UTSW |
4 |
133,801,584 (GRCm39) |
nonsense |
probably null |
|
R6046:Crybg2
|
UTSW |
4 |
133,819,388 (GRCm39) |
missense |
probably damaging |
1.00 |
R6088:Crybg2
|
UTSW |
4 |
133,803,101 (GRCm39) |
splice site |
probably null |
|
R6196:Crybg2
|
UTSW |
4 |
133,808,450 (GRCm39) |
missense |
probably damaging |
0.99 |
R6246:Crybg2
|
UTSW |
4 |
133,816,657 (GRCm39) |
missense |
probably damaging |
0.96 |
R6303:Crybg2
|
UTSW |
4 |
133,814,898 (GRCm39) |
missense |
possibly damaging |
0.66 |
R6320:Crybg2
|
UTSW |
4 |
133,808,737 (GRCm39) |
missense |
probably damaging |
1.00 |
R6354:Crybg2
|
UTSW |
4 |
133,818,447 (GRCm39) |
missense |
probably benign |
0.39 |
R6737:Crybg2
|
UTSW |
4 |
133,800,001 (GRCm39) |
missense |
probably damaging |
0.99 |
R6744:Crybg2
|
UTSW |
4 |
133,816,207 (GRCm39) |
missense |
probably damaging |
1.00 |
R6847:Crybg2
|
UTSW |
4 |
133,792,857 (GRCm39) |
missense |
probably benign |
0.40 |
R6891:Crybg2
|
UTSW |
4 |
133,809,148 (GRCm39) |
missense |
probably benign |
0.32 |
R7043:Crybg2
|
UTSW |
4 |
133,818,447 (GRCm39) |
missense |
probably benign |
0.39 |
R7133:Crybg2
|
UTSW |
4 |
133,792,754 (GRCm39) |
missense |
probably benign |
0.09 |
R7166:Crybg2
|
UTSW |
4 |
133,788,193 (GRCm39) |
missense |
probably damaging |
0.96 |
R7412:Crybg2
|
UTSW |
4 |
133,801,434 (GRCm39) |
missense |
probably benign |
0.12 |
R7711:Crybg2
|
UTSW |
4 |
133,792,844 (GRCm39) |
missense |
probably benign |
0.00 |
R7745:Crybg2
|
UTSW |
4 |
133,816,156 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7782:Crybg2
|
UTSW |
4 |
133,801,137 (GRCm39) |
missense |
probably benign |
0.00 |
R7871:Crybg2
|
UTSW |
4 |
133,814,910 (GRCm39) |
missense |
probably damaging |
1.00 |
R7943:Crybg2
|
UTSW |
4 |
133,800,295 (GRCm39) |
missense |
probably damaging |
0.97 |
R8008:Crybg2
|
UTSW |
4 |
133,818,415 (GRCm39) |
missense |
probably damaging |
1.00 |
R8017:Crybg2
|
UTSW |
4 |
133,800,484 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8292:Crybg2
|
UTSW |
4 |
133,802,842 (GRCm39) |
missense |
probably damaging |
1.00 |
R8391:Crybg2
|
UTSW |
4 |
133,803,035 (GRCm39) |
missense |
probably damaging |
0.97 |
R8510:Crybg2
|
UTSW |
4 |
133,800,670 (GRCm39) |
missense |
probably benign |
|
R8535:Crybg2
|
UTSW |
4 |
133,808,514 (GRCm39) |
missense |
probably damaging |
1.00 |
R8695:Crybg2
|
UTSW |
4 |
133,792,766 (GRCm39) |
missense |
possibly damaging |
0.55 |
R8789:Crybg2
|
UTSW |
4 |
133,801,554 (GRCm39) |
missense |
probably benign |
0.00 |
R8870:Crybg2
|
UTSW |
4 |
133,818,525 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9052:Crybg2
|
UTSW |
4 |
133,803,035 (GRCm39) |
missense |
probably damaging |
0.97 |
R9071:Crybg2
|
UTSW |
4 |
133,818,542 (GRCm39) |
missense |
probably damaging |
1.00 |
R9088:Crybg2
|
UTSW |
4 |
133,799,890 (GRCm39) |
missense |
probably damaging |
0.99 |
R9154:Crybg2
|
UTSW |
4 |
133,792,620 (GRCm39) |
missense |
probably benign |
0.02 |
R9440:Crybg2
|
UTSW |
4 |
133,801,602 (GRCm39) |
missense |
probably benign |
0.00 |
R9540:Crybg2
|
UTSW |
4 |
133,816,225 (GRCm39) |
missense |
probably damaging |
0.98 |
R9606:Crybg2
|
UTSW |
4 |
133,801,383 (GRCm39) |
nonsense |
probably null |
|
R9719:Crybg2
|
UTSW |
4 |
133,793,148 (GRCm39) |
missense |
probably benign |
0.01 |
R9734:Crybg2
|
UTSW |
4 |
133,801,962 (GRCm39) |
missense |
probably benign |
0.00 |
X0064:Crybg2
|
UTSW |
4 |
133,816,587 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1176:Crybg2
|
UTSW |
4 |
133,809,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AATGGACTTGCTAGCCTCTTCC -3'
(R):5'- AGAATGAGGTCACCGGTCAC -3'
Sequencing Primer
(F):5'- GCCTCTTCCTCCCGCTGAG -3'
(R):5'- AGGTCACCGGTCACCATGTG -3'
|
Posted On |
2022-09-12 |