Incidental Mutation 'R8292:Crybg2'
| ID |
638724 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crybg2
|
| Ensembl Gene |
ENSMUSG00000012123 |
| Gene Name |
crystallin beta-gamma domain containing 2 |
| Synonyms |
Aim1l |
| MMRRC Submission |
067782-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.876)
|
| Stock # |
R8292 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
133788126-133819815 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 133802842 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 873
(S873P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114099
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000121391]
[ENSMUST00000137053]
[ENSMUST00000149956]
|
| AlphaFold |
A0A2I3BQG2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121391
AA Change: S873P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114099
Gene: ENSMUSG00000012123
AA Change: S873P
| 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: ENSMUST00000137053
|
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
A |
T |
5: 114,338,555 (GRCm39) |
|
probably null |
Het |
| Akirin2 |
T |
C |
4: 34,566,007 (GRCm39) |
|
probably null |
Het |
| Akr1c14 |
A |
G |
13: 4,130,995 (GRCm39) |
D229G |
possibly damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,227,194 (GRCm39) |
I1382V |
probably benign |
Het |
| Bcas3 |
C |
A |
11: 85,348,729 (GRCm39) |
A207D |
probably damaging |
Het |
| Bcl2l10 |
T |
C |
9: 75,255,160 (GRCm39) |
|
probably benign |
Het |
| Cdc42 |
T |
C |
4: 137,063,384 (GRCm39) |
T3A |
probably benign |
Het |
| Celsr1 |
C |
A |
15: 85,791,819 (GRCm39) |
W2594L |
possibly damaging |
Het |
| Chrna6 |
A |
T |
8: 27,896,754 (GRCm39) |
H374Q |
probably benign |
Het |
| Cibar1 |
T |
G |
4: 12,153,963 (GRCm39) |
T330P |
possibly damaging |
Het |
| Clcnka |
G |
A |
4: 141,125,272 (GRCm39) |
R30* |
probably null |
Het |
| Clptm1l |
A |
T |
13: 73,765,854 (GRCm39) |
H464L |
probably damaging |
Het |
| Col6a4 |
A |
T |
9: 105,954,076 (GRCm39) |
M421K |
probably benign |
Het |
| Dixdc1 |
A |
G |
9: 50,621,989 (GRCm39) |
V114A |
probably benign |
Het |
| Etv6 |
T |
C |
6: 134,225,509 (GRCm39) |
C247R |
probably benign |
Het |
| Farp2 |
T |
C |
1: 93,456,350 (GRCm39) |
L11S |
probably damaging |
Het |
| Gbp2 |
G |
A |
3: 142,329,584 (GRCm39) |
V44M |
probably damaging |
Het |
| Get4 |
A |
G |
5: 139,248,686 (GRCm39) |
D99G |
probably null |
Het |
| Glcci1 |
G |
A |
6: 8,558,549 (GRCm39) |
R212H |
probably damaging |
Het |
| Gm14295 |
T |
A |
2: 176,501,351 (GRCm39) |
F280L |
probably damaging |
Het |
| Gm5407 |
T |
A |
16: 49,117,550 (GRCm39) |
N70Y |
noncoding transcript |
Het |
| Hace1 |
C |
G |
10: 45,587,557 (GRCm39) |
Y885* |
probably null |
Het |
| Hectd4 |
G |
A |
5: 121,455,288 (GRCm39) |
R644Q |
possibly damaging |
Het |
| Impg2 |
A |
T |
16: 56,080,989 (GRCm39) |
E931V |
probably damaging |
Het |
| Kif5c |
A |
T |
2: 49,625,497 (GRCm39) |
Y589F |
probably benign |
Het |
| Krr1 |
T |
A |
10: 111,813,021 (GRCm39) |
V132E |
possibly damaging |
Het |
| Luzp1 |
T |
G |
4: 136,269,764 (GRCm39) |
D662E |
probably benign |
Het |
| Mc4r |
A |
T |
18: 66,993,082 (GRCm39) |
Y10* |
probably null |
Het |
| Mfng |
T |
C |
15: 78,657,370 (GRCm39) |
I35V |
probably benign |
Het |
| Mprip |
T |
A |
11: 59,650,340 (GRCm39) |
I1348K |
probably benign |
Het |
| Mrgprb3 |
G |
T |
7: 48,293,255 (GRCm39) |
Q99K |
probably benign |
Het |
| Mrgprb4 |
A |
T |
7: 47,848,554 (GRCm39) |
S125T |
probably damaging |
Het |
| Mrgprg |
A |
T |
7: 143,318,656 (GRCm39) |
M152K |
probably benign |
Het |
| Muc5ac |
A |
C |
7: 141,363,000 (GRCm39) |
I2104L |
unknown |
Het |
| Myom2 |
A |
G |
8: 15,182,888 (GRCm39) |
I1442V |
probably benign |
Het |
| Nell1 |
T |
C |
7: 49,907,995 (GRCm39) |
C385R |
probably damaging |
Het |
| Nid2 |
T |
G |
14: 19,818,346 (GRCm39) |
V280G |
probably damaging |
Het |
| Npr2 |
T |
A |
4: 43,643,086 (GRCm39) |
M490K |
possibly damaging |
Het |
| Prr12 |
A |
G |
7: 44,684,112 (GRCm39) |
F1643L |
probably damaging |
Het |
| Psg16 |
G |
A |
7: 16,827,701 (GRCm39) |
G128D |
probably damaging |
Het |
| Racgap1 |
A |
T |
15: 99,520,127 (GRCm39) |
L595* |
probably null |
Het |
| Rbbp8 |
T |
C |
18: 11,838,769 (GRCm39) |
V150A |
probably benign |
Het |
| Rbbp9 |
T |
C |
2: 144,390,017 (GRCm39) |
T49A |
probably benign |
Het |
| Rbm20 |
C |
A |
19: 53,839,930 (GRCm39) |
T973K |
possibly damaging |
Het |
| Robo1 |
A |
T |
16: 72,769,420 (GRCm39) |
I582F |
possibly damaging |
Het |
| Rps6ka5 |
A |
T |
12: 100,644,791 (GRCm39) |
V53D |
possibly damaging |
Het |
| Slc35f6 |
G |
T |
5: 30,813,375 (GRCm39) |
V156L |
probably benign |
Het |
| Smpd3 |
T |
C |
8: 106,991,422 (GRCm39) |
H377R |
probably benign |
Het |
| Son |
G |
A |
16: 91,453,545 (GRCm39) |
S764N |
possibly damaging |
Het |
| Srgn |
A |
T |
10: 62,343,447 (GRCm39) |
V16D |
possibly damaging |
Het |
| Tex14 |
G |
A |
11: 87,388,664 (GRCm39) |
R297Q |
probably damaging |
Het |
| Tiam2 |
T |
C |
17: 3,557,142 (GRCm39) |
V1194A |
probably benign |
Het |
| Tlr6 |
A |
C |
5: 65,111,134 (GRCm39) |
L591R |
probably damaging |
Het |
| Tmem143 |
A |
G |
7: 45,558,964 (GRCm39) |
K302R |
probably damaging |
Het |
| Ttc28 |
A |
G |
5: 111,371,123 (GRCm39) |
Y555C |
probably damaging |
Het |
| Usp32 |
T |
A |
11: 84,968,227 (GRCm39) |
K145N |
probably damaging |
Het |
| Zbtb40 |
T |
C |
4: 136,726,878 (GRCm39) |
Y486C |
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 |
|
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'- GGTGACCCCATACATTTCTAATCC -3'
(R):5'- CTTCAGGCAACGACAGCTTC -3'
Sequencing Primer
(F):5'- TCTGTCTCAGAGCCCAGCAC -3'
(R):5'- GAACTCTGGCTGTTCGTATAGTATCC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation