Incidental Mutation 'R7043:Crybg2'
ID |
547151 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Crybg2
|
Ensembl Gene |
ENSMUSG00000012123 |
Gene Name |
crystallin beta-gamma domain containing 2 |
Synonyms |
Aim1l |
MMRRC Submission |
045142-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.862)
|
Stock # |
R7043 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
133788126-133819815 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 133818447 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 1710
(D1710G)
|
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 benign
Transcript: ENSMUST00000121391
AA Change: D1401G
PolyPhen 2
Score 0.268 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000114099 Gene: ENSMUSG00000012123 AA Change: D1401G
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 |
probably benign
Transcript: ENSMUST00000227683
AA Change: D1710G
PolyPhen 2
Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149080
|
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 |
noncoding transcript
Transcript: ENSMUST00000153392
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146102
|
Meta Mutation Damage Score |
0.0704 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (51/51) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
A |
G |
17: 24,484,474 (GRCm39) |
L1596P |
probably damaging |
Het |
Actr3b |
A |
G |
5: 26,054,936 (GRCm39) |
M329V |
probably benign |
Het |
Avpr1a |
C |
T |
10: 122,285,586 (GRCm39) |
R293C |
probably damaging |
Het |
Bdp1 |
A |
T |
13: 100,215,215 (GRCm39) |
C390S |
probably benign |
Het |
C2cd2l |
A |
T |
9: 44,227,848 (GRCm39) |
M131K |
probably damaging |
Het |
Ccna2 |
T |
C |
3: 36,624,302 (GRCm39) |
|
probably benign |
Het |
Cd53 |
T |
C |
3: 106,670,577 (GRCm39) |
D152G |
probably damaging |
Het |
Cdpf1 |
A |
T |
15: 85,692,485 (GRCm39) |
V66E |
probably null |
Het |
Chd9 |
G |
T |
8: 91,760,843 (GRCm39) |
|
probably benign |
Het |
Dst |
A |
G |
1: 34,296,992 (GRCm39) |
T5794A |
probably damaging |
Het |
Eif2s1 |
G |
T |
12: 78,923,882 (GRCm39) |
R113L |
probably damaging |
Het |
Eif5 |
A |
G |
12: 111,511,030 (GRCm39) |
D423G |
probably benign |
Het |
Eri1 |
A |
C |
8: 35,945,792 (GRCm39) |
D164E |
probably damaging |
Het |
F7 |
A |
T |
8: 13,083,997 (GRCm39) |
R227S |
probably benign |
Het |
Gm14496 |
T |
G |
2: 181,642,120 (GRCm39) |
I597S |
possibly damaging |
Het |
Gpr85 |
T |
A |
6: 13,835,876 (GRCm39) |
N343Y |
probably damaging |
Het |
H2-T23 |
A |
T |
17: 36,342,803 (GRCm39) |
S112T |
probably damaging |
Het |
Itga9 |
C |
T |
9: 118,598,184 (GRCm39) |
P573S |
probably damaging |
Het |
Kcnb2 |
A |
T |
1: 15,383,150 (GRCm39) |
M159L |
probably benign |
Het |
Kmt5b |
T |
A |
19: 3,865,220 (GRCm39) |
S738R |
possibly damaging |
Het |
Lrp1b |
T |
C |
2: 40,812,426 (GRCm39) |
N2393S |
possibly damaging |
Het |
Mme |
T |
A |
3: 63,252,638 (GRCm39) |
Y427* |
probably null |
Het |
Naip1 |
A |
G |
13: 100,563,422 (GRCm39) |
V581A |
probably damaging |
Het |
Ndel1 |
A |
G |
11: 68,713,450 (GRCm39) |
L329P |
possibly damaging |
Het |
Nthl1 |
T |
G |
17: 24,857,644 (GRCm39) |
V281G |
probably benign |
Het |
Or52ab2 |
C |
A |
7: 102,970,292 (GRCm39) |
|
probably benign |
Het |
Per2 |
G |
T |
1: 91,347,130 (GRCm39) |
H1197Q |
probably benign |
Het |
Phf8-ps |
T |
C |
17: 33,284,306 (GRCm39) |
D832G |
possibly damaging |
Het |
Plec |
G |
A |
15: 76,093,328 (GRCm39) |
|
probably benign |
Het |
Prpf6 |
A |
T |
2: 181,291,297 (GRCm39) |
H704L |
probably benign |
Het |
Recql5 |
C |
T |
11: 115,821,502 (GRCm39) |
|
probably null |
Het |
Rimbp3 |
G |
A |
16: 17,028,972 (GRCm39) |
V799M |
probably damaging |
Het |
Sema3f |
C |
T |
9: 107,568,599 (GRCm39) |
A169T |
possibly damaging |
Het |
Serpinb9f |
T |
C |
13: 33,509,970 (GRCm39) |
I54T |
possibly damaging |
Het |
Skint5 |
A |
T |
4: 113,574,304 (GRCm39) |
L749Q |
unknown |
Het |
Slc35g3 |
T |
C |
11: 69,652,476 (GRCm39) |
D12G |
probably benign |
Het |
Sptbn1 |
A |
G |
11: 30,053,323 (GRCm39) |
V2252A |
probably benign |
Het |
Stab2 |
T |
C |
10: 86,706,110 (GRCm39) |
N1750S |
probably damaging |
Het |
Supt5 |
C |
A |
7: 28,019,435 (GRCm39) |
R543L |
probably benign |
Het |
Syne1 |
T |
C |
10: 5,022,193 (GRCm39) |
E7806G |
possibly damaging |
Het |
Syt12 |
T |
A |
19: 4,501,049 (GRCm39) |
M334L |
probably benign |
Het |
Tk1 |
A |
G |
11: 117,706,779 (GRCm39) |
*234R |
probably null |
Het |
Trp73 |
T |
G |
4: 154,151,464 (GRCm39) |
|
probably null |
Het |
Ttn |
A |
G |
2: 76,727,477 (GRCm39) |
|
probably benign |
Het |
Vmn2r11 |
T |
C |
5: 109,200,098 (GRCm39) |
I452V |
probably benign |
Het |
Wwox |
G |
T |
8: 115,406,578 (GRCm39) |
V190L |
probably damaging |
Het |
Wwp2 |
A |
G |
8: 108,184,532 (GRCm39) |
H80R |
probably benign |
Het |
Zc3h3 |
A |
G |
15: 75,681,485 (GRCm39) |
I532T |
probably damaging |
Het |
Zfp280d |
A |
G |
9: 72,226,539 (GRCm39) |
K328E |
probably damaging |
Het |
Zfp365 |
A |
G |
10: 67,745,656 (GRCm39) |
S41P |
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 |
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'- ACACAGGTGCAGGTATCTATAGTTAC -3'
(R):5'- TTGCATCTAACTGGGCTGGG -3'
Sequencing Primer
(F):5'- TGCAGGTATCTATAGTTACTGAGC -3'
(R):5'- CATCTAACTGGGCTGGGACTTC -3'
|
Posted On |
2019-05-13 |