Incidental Mutation 'R4766:Crybg2'
ID |
366132 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Crybg2
|
Ensembl Gene |
ENSMUSG00000012123 |
Gene Name |
crystallin beta-gamma domain containing 2 |
Synonyms |
Aim1l |
MMRRC Submission |
042407-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.876)
|
Stock # |
R4766 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
133788126-133819815 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 133816663 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 1676
(Y1676C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154159
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000696]
[ENSMUST00000121391]
[ENSMUST00000227683]
[ENSMUST00000149956]
|
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 damaging
Transcript: ENSMUST00000121391
AA Change: Y1367C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000114099 Gene: ENSMUSG00000012123 AA Change: Y1367C
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 |
noncoding transcript
Transcript: ENSMUST00000132872
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137445
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140125
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143295
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145122
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146102
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153392
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149080
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000227683
AA Change: Y1676C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
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 |
|
Meta Mutation Damage Score |
0.4219 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
97% (87/90) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2900026A02Rik |
C |
T |
5: 113,245,502 (GRCm39) |
V1584I |
probably benign |
Het |
Adamts12 |
A |
G |
15: 11,285,987 (GRCm39) |
D732G |
probably benign |
Het |
Agpat4 |
A |
G |
17: 12,370,637 (GRCm39) |
|
probably benign |
Het |
AI182371 |
T |
C |
2: 34,985,829 (GRCm39) |
D140G |
possibly damaging |
Het |
Apol11b |
T |
A |
15: 77,519,133 (GRCm39) |
T316S |
probably benign |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Bard1 |
T |
C |
1: 71,114,333 (GRCm39) |
E216G |
probably benign |
Het |
Bdp1 |
C |
A |
13: 100,186,376 (GRCm39) |
R1692L |
probably damaging |
Het |
Capn10 |
T |
C |
1: 92,871,141 (GRCm39) |
I101T |
probably damaging |
Het |
Ccdc175 |
C |
T |
12: 72,158,979 (GRCm39) |
M653I |
probably benign |
Het |
Ccdc9b |
C |
A |
2: 118,590,058 (GRCm39) |
R262L |
probably damaging |
Het |
Ccr8 |
G |
A |
9: 119,923,530 (GRCm39) |
C215Y |
probably damaging |
Het |
Cct3 |
T |
A |
3: 88,219,092 (GRCm39) |
L241* |
probably null |
Het |
Cd2ap |
A |
T |
17: 43,163,350 (GRCm39) |
I25N |
probably damaging |
Het |
Cdh19 |
T |
C |
1: 110,820,990 (GRCm39) |
K583E |
probably benign |
Het |
Cela3a |
A |
G |
4: 137,129,986 (GRCm39) |
S212P |
unknown |
Het |
Cfap44 |
T |
A |
16: 44,236,246 (GRCm39) |
|
probably null |
Het |
Clca3a1 |
A |
T |
3: 144,455,473 (GRCm39) |
L440Q |
probably damaging |
Het |
Dscam |
T |
C |
16: 96,445,188 (GRCm39) |
D1501G |
probably benign |
Het |
Eml6 |
C |
A |
11: 29,755,757 (GRCm39) |
L832F |
probably benign |
Het |
Enpp3 |
A |
G |
10: 24,649,825 (GRCm39) |
L867P |
probably damaging |
Het |
Erbb3 |
A |
G |
10: 128,422,107 (GRCm39) |
Y46H |
possibly damaging |
Het |
Fads3 |
T |
C |
19: 10,033,384 (GRCm39) |
I342T |
possibly damaging |
Het |
Flvcr1 |
A |
T |
1: 190,753,303 (GRCm39) |
S290T |
probably benign |
Het |
Fut9 |
A |
G |
4: 25,799,191 (GRCm39) |
|
probably benign |
Het |
Gad2 |
C |
T |
2: 22,512,679 (GRCm39) |
A2V |
probably damaging |
Het |
Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
Gm10715 |
T |
G |
9: 3,038,073 (GRCm39) |
|
probably benign |
Het |
Herc1 |
T |
G |
9: 66,349,211 (GRCm39) |
D2023E |
probably benign |
Het |
Hsd3b3 |
A |
G |
3: 98,649,801 (GRCm39) |
L174P |
probably damaging |
Het |
Impg2 |
TACCACCACCACCACCACCACCACCA |
TACCACCACCACCACCACCACCA |
16: 56,078,302 (GRCm39) |
|
probably benign |
Het |
Iqcf3 |
A |
G |
9: 106,438,148 (GRCm39) |
|
probably null |
Het |
Kcna4 |
G |
A |
2: 107,126,888 (GRCm39) |
V541M |
probably damaging |
Het |
Kcnj11 |
T |
C |
7: 45,749,240 (GRCm39) |
T28A |
probably benign |
Het |
Kcnmb2 |
T |
A |
3: 32,236,016 (GRCm39) |
N88K |
probably damaging |
Het |
Kdm2a |
TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC |
TTCCTCCTCCTCCTCTTCCTCCTCCTC |
19: 4,374,535 (GRCm39) |
|
probably benign |
Het |
Krt1c |
T |
C |
15: 101,722,395 (GRCm39) |
E430G |
probably damaging |
Het |
Lins1 |
C |
T |
7: 66,360,389 (GRCm39) |
L384F |
possibly damaging |
Het |
Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
Mfge8 |
T |
C |
7: 78,784,273 (GRCm39) |
N389D |
probably damaging |
Het |
Mug1 |
C |
T |
6: 121,861,213 (GRCm39) |
T1278I |
probably benign |
Het |
Myh9 |
T |
C |
15: 77,692,077 (GRCm39) |
M161V |
probably damaging |
Het |
Myl7 |
T |
A |
11: 5,848,171 (GRCm39) |
Y61F |
probably benign |
Het |
Nlrp4d |
A |
T |
7: 10,096,706 (GRCm39) |
|
unknown |
Het |
Nol3 |
A |
G |
8: 106,008,565 (GRCm39) |
|
probably null |
Het |
Nup85 |
T |
A |
11: 115,468,751 (GRCm39) |
|
probably null |
Het |
Obscn |
T |
A |
11: 58,903,568 (GRCm39) |
T7619S |
probably damaging |
Het |
Or2t49 |
T |
A |
11: 58,392,494 (GRCm39) |
N296I |
probably damaging |
Het |
Or4k48 |
T |
C |
2: 111,476,226 (GRCm39) |
M39V |
probably benign |
Het |
Or52a24 |
C |
T |
7: 103,381,457 (GRCm39) |
T108I |
possibly damaging |
Het |
Or7g26 |
G |
A |
9: 19,230,141 (GRCm39) |
V104I |
probably benign |
Het |
Pax5 |
T |
A |
4: 44,679,494 (GRCm39) |
I184F |
probably damaging |
Het |
Pcdha7 |
T |
A |
18: 37,107,560 (GRCm39) |
V195D |
probably damaging |
Het |
Phf3 |
A |
T |
1: 30,853,020 (GRCm39) |
|
probably benign |
Het |
Pla2g15 |
G |
T |
8: 106,889,703 (GRCm39) |
G325V |
probably damaging |
Het |
Ppp1r21 |
T |
C |
17: 88,880,043 (GRCm39) |
F487L |
probably benign |
Het |
Ppp1r9a |
A |
G |
6: 5,157,016 (GRCm39) |
I965V |
probably benign |
Het |
Ptpru |
A |
G |
4: 131,548,275 (GRCm39) |
V74A |
probably damaging |
Het |
Rif1 |
T |
A |
2: 51,988,946 (GRCm39) |
Y780N |
probably damaging |
Het |
Rps25 |
T |
A |
9: 44,320,046 (GRCm39) |
Y23N |
possibly damaging |
Het |
Ryr1 |
T |
C |
7: 28,785,258 (GRCm39) |
D1811G |
probably damaging |
Het |
Scamp5 |
T |
G |
9: 57,359,319 (GRCm39) |
|
probably null |
Het |
Senp1 |
T |
C |
15: 97,943,777 (GRCm39) |
D602G |
probably damaging |
Het |
Sh2b2 |
T |
G |
5: 136,260,811 (GRCm39) |
D135A |
probably damaging |
Het |
Slc26a8 |
G |
A |
17: 28,857,635 (GRCm39) |
T836M |
probably benign |
Het |
Slfn4 |
T |
G |
11: 83,077,647 (GRCm39) |
I145S |
possibly damaging |
Het |
Spag6l |
G |
A |
16: 16,595,254 (GRCm39) |
T377I |
probably benign |
Het |
Spdye4b |
T |
C |
5: 143,182,089 (GRCm39) |
F129S |
probably damaging |
Het |
Sspo |
G |
A |
6: 48,447,514 (GRCm39) |
G2360E |
probably benign |
Het |
Taar2 |
A |
T |
10: 23,816,669 (GRCm39) |
I70F |
probably damaging |
Het |
Taar7e |
A |
G |
10: 23,914,464 (GRCm39) |
N318S |
probably damaging |
Het |
Tor1a |
C |
A |
2: 30,857,742 (GRCm39) |
R42L |
probably benign |
Het |
Trdn |
A |
T |
10: 33,350,502 (GRCm39) |
Q690H |
probably benign |
Het |
Trim56 |
C |
A |
5: 137,141,579 (GRCm39) |
V646L |
probably benign |
Het |
Tspan15 |
T |
A |
10: 62,027,323 (GRCm39) |
K165I |
probably benign |
Het |
Usp24 |
A |
G |
4: 106,273,245 (GRCm39) |
Y2210C |
probably damaging |
Het |
Usp45 |
A |
G |
4: 21,797,307 (GRCm39) |
T76A |
probably damaging |
Het |
Vps13c |
T |
A |
9: 67,785,506 (GRCm39) |
|
probably null |
Het |
Zfp512b |
T |
C |
2: 181,226,888 (GRCm39) |
|
probably benign |
Het |
Zyx |
C |
A |
6: 42,333,093 (GRCm39) |
|
probably null |
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 |
|
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 |
|
R9641:Crybg2
|
UTSW |
4 |
133,816,620 (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'- GGGCAGAGGTTGTTCTAACATG -3'
(R):5'- GGACAGGTAAAGCTGCTTTG -3'
Sequencing Primer
(F):5'- CAGAGGTTGTTCTAACATGTGTAC -3'
(R):5'- CAGGTAAAGCTGCTTTGTTTTCAAG -3'
|
Posted On |
2015-12-21 |