Incidental Mutation 'R6354:Crybg2'
| ID |
512950 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crybg2
|
| Ensembl Gene |
ENSMUSG00000012123 |
| Gene Name |
crystallin beta-gamma domain containing 2 |
| Synonyms |
Aim1l |
| MMRRC Submission |
044506-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.876)
|
| Stock # |
R6354 (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: 99.8%
- 10x: 98.5%
- 20x: 95.3%
|
| Validation Efficiency |
100% (56/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
T |
C |
11: 109,685,042 (GRCm39) |
K152E |
probably benign |
Het |
| Adamts20 |
C |
A |
15: 94,245,691 (GRCm39) |
C537F |
probably damaging |
Het |
| Apc |
A |
T |
18: 34,445,581 (GRCm39) |
T808S |
probably benign |
Het |
| Atad3a |
A |
G |
4: 155,838,402 (GRCm39) |
I205T |
possibly damaging |
Het |
| Casz1 |
G |
T |
4: 149,036,999 (GRCm39) |
G1754C |
unknown |
Het |
| Ccdc62 |
C |
T |
5: 124,082,267 (GRCm39) |
A232V |
probably damaging |
Het |
| Cdc27 |
C |
A |
11: 104,425,574 (GRCm39) |
D81Y |
probably damaging |
Het |
| Cep126 |
A |
G |
9: 8,099,928 (GRCm39) |
S869P |
probably damaging |
Het |
| Cfap251 |
C |
T |
5: 123,440,818 (GRCm39) |
T1125I |
probably damaging |
Het |
| Ciita |
A |
T |
16: 10,341,610 (GRCm39) |
K983N |
probably damaging |
Het |
| Cimap1a |
A |
G |
7: 140,430,527 (GRCm39) |
|
probably null |
Het |
| Clstn1 |
A |
C |
4: 149,727,673 (GRCm39) |
Q523P |
probably benign |
Het |
| Cpb2 |
T |
C |
14: 75,495,145 (GRCm39) |
|
probably null |
Het |
| Csmd3 |
C |
T |
15: 47,744,885 (GRCm39) |
G1370D |
probably damaging |
Het |
| Cwf19l1 |
G |
T |
19: 44,115,912 (GRCm39) |
D172E |
probably benign |
Het |
| Cyp4a14 |
A |
G |
4: 115,344,441 (GRCm39) |
F475L |
probably damaging |
Het |
| Fam98c |
C |
T |
7: 28,852,272 (GRCm39) |
V298M |
probably damaging |
Het |
| Gcsh |
T |
C |
8: 117,710,582 (GRCm39) |
N127S |
probably benign |
Het |
| Gimap4 |
T |
C |
6: 48,663,814 (GRCm39) |
F10S |
possibly damaging |
Het |
| Gm4787 |
C |
T |
12: 81,424,755 (GRCm39) |
A468T |
probably damaging |
Het |
| Gm5111 |
G |
A |
6: 48,567,268 (GRCm39) |
|
probably benign |
Het |
| Gm7137 |
C |
A |
10: 77,623,481 (GRCm39) |
|
probably benign |
Het |
| Inpp1 |
A |
G |
1: 52,836,224 (GRCm39) |
S81P |
probably damaging |
Het |
| Iqce |
T |
C |
5: 140,662,090 (GRCm39) |
|
probably null |
Het |
| Ivl |
CCTGCTGCTGCTGCT |
CCTGCTGCTGCT |
3: 92,479,217 (GRCm39) |
|
probably benign |
Het |
| Krtap13 |
C |
A |
16: 88,548,131 (GRCm39) |
C119F |
probably damaging |
Het |
| Lama2 |
G |
T |
10: 27,088,064 (GRCm39) |
D904E |
probably damaging |
Het |
| Lrrc37a |
T |
A |
11: 103,355,213 (GRCm39) |
I2535F |
unknown |
Het |
| Lrrc40 |
T |
A |
3: 157,766,901 (GRCm39) |
L452* |
probably null |
Het |
| Meis1 |
A |
T |
11: 18,966,184 (GRCm39) |
M63K |
possibly damaging |
Het |
| Mpo |
T |
A |
11: 87,688,172 (GRCm39) |
I277N |
possibly damaging |
Het |
| Mtmr11 |
T |
A |
3: 96,075,992 (GRCm39) |
F406I |
probably benign |
Het |
| Muc4 |
T |
C |
16: 32,575,476 (GRCm39) |
S1411P |
probably benign |
Het |
| Or2y1b |
A |
T |
11: 49,208,465 (GRCm39) |
I31F |
probably damaging |
Het |
| Or4c102 |
T |
A |
2: 88,422,478 (GRCm39) |
I110N |
probably damaging |
Het |
| Or56a5 |
G |
A |
7: 104,792,915 (GRCm39) |
T195I |
probably benign |
Het |
| Phf21a |
G |
A |
2: 92,179,282 (GRCm39) |
G298R |
probably damaging |
Het |
| Phldb2 |
T |
C |
16: 45,645,477 (GRCm39) |
Y368C |
probably damaging |
Het |
| Pik3cb |
G |
T |
9: 98,955,696 (GRCm39) |
T407K |
probably benign |
Het |
| Robo3 |
A |
T |
9: 37,328,513 (GRCm39) |
|
probably benign |
Het |
| Sgsm1 |
T |
G |
5: 113,430,522 (GRCm39) |
T288P |
probably damaging |
Het |
| Slc5a7 |
A |
G |
17: 54,584,061 (GRCm39) |
S410P |
probably damaging |
Het |
| Tmc6 |
A |
C |
11: 117,665,062 (GRCm39) |
C404G |
probably benign |
Het |
| Tnrc6c |
A |
T |
11: 117,640,440 (GRCm39) |
Q1410L |
possibly damaging |
Het |
| Trak1 |
A |
T |
9: 121,280,792 (GRCm39) |
T384S |
probably null |
Het |
| Txlna |
A |
T |
4: 129,528,205 (GRCm39) |
L244Q |
probably damaging |
Het |
| Ube3c |
T |
C |
5: 29,868,581 (GRCm39) |
F939L |
probably damaging |
Het |
| Vmn2r65 |
T |
A |
7: 84,589,574 (GRCm39) |
I781F |
probably benign |
Het |
| Vmn2r72 |
A |
G |
7: 85,399,747 (GRCm39) |
|
probably null |
Het |
| Vps36 |
T |
C |
8: 22,695,771 (GRCm39) |
S109P |
probably damaging |
Het |
| Wrn |
T |
C |
8: 33,833,666 (GRCm39) |
I82M |
possibly damaging |
Het |
| Zbtb49 |
T |
C |
5: 38,360,903 (GRCm39) |
R511G |
possibly damaging |
Het |
| Zeb1 |
A |
G |
18: 5,772,743 (GRCm39) |
T1011A |
possibly damaging |
Het |
| Zfhx4 |
T |
C |
3: 5,467,011 (GRCm39) |
S2390P |
probably benign |
Het |
| Zfp619 |
C |
A |
7: 39,184,243 (GRCm39) |
T91K |
probably benign |
Het |
| Zfp644 |
A |
G |
5: 106,784,619 (GRCm39) |
S643P |
probably benign |
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 |
|
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'- ACTGAGCTATGCATATAGTATGGG -3'
(R):5'- TCTTGCATCTAACTGGGCTGG -3'
Sequencing Primer
(F):5'- AAAAGATGTGACTTTGTCAGTGG -3'
(R):5'- CATCTAACTGGGCTGGGACTTC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation