Incidental Mutation 'R1583:Crybg2'
| ID |
177239 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crybg2
|
| Ensembl Gene |
ENSMUSG00000012123 |
| Gene Name |
crystallin beta-gamma domain containing 2 |
| Synonyms |
Aim1l |
| MMRRC Submission |
039620-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.876)
|
| Stock # |
R1583 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
133788126-133819815 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 133808770 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1415
(S1415P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154159
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000121391]
[ENSMUST00000149956]
[ENSMUST00000227683]
|
| AlphaFold |
A0A2I3BQG2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121391
AA Change: S1106P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114099
Gene: ENSMUSG00000012123
AA Change: S1106P
| 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: ENSMUST00000137529
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140125
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145122
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149080
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149504
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000149956
AA Change: S144P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123349
Gene: ENSMUSG00000012123
AA Change: S144P
| 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 |
probably damaging
Transcript: ENSMUST00000227683
AA Change: S1415P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.6443 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 88.8%
|
| Validation Efficiency |
99% (79/80) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
G |
5: 77,030,528 (GRCm39) |
S691P |
probably benign |
Het |
| Adgrb3 |
T |
C |
1: 25,265,912 (GRCm39) |
|
probably null |
Het |
| Ankar |
A |
G |
1: 72,718,714 (GRCm39) |
|
probably benign |
Het |
| Aplf |
A |
T |
6: 87,623,015 (GRCm39) |
Y355N |
probably damaging |
Het |
| Bms1 |
A |
G |
6: 118,366,350 (GRCm39) |
|
probably benign |
Het |
| Catsperb |
T |
C |
12: 101,429,373 (GRCm39) |
I182T |
probably damaging |
Het |
| Cd300ld2 |
T |
C |
11: 114,904,603 (GRCm39) |
D88G |
probably benign |
Het |
| Cebpz |
T |
C |
17: 79,242,181 (GRCm39) |
N491S |
probably damaging |
Het |
| Ddc |
A |
G |
11: 11,779,131 (GRCm39) |
V331A |
probably benign |
Het |
| Decr2 |
T |
C |
17: 26,301,998 (GRCm39) |
E244G |
probably damaging |
Het |
| Dhrs11 |
A |
G |
11: 84,713,943 (GRCm39) |
M136T |
probably damaging |
Het |
| Eapp |
G |
A |
12: 54,732,733 (GRCm39) |
Q126* |
probably null |
Het |
| Fam111a |
T |
A |
19: 12,565,142 (GRCm39) |
V297D |
probably damaging |
Het |
| Fbxo10 |
A |
C |
4: 45,062,118 (GRCm39) |
L136R |
probably damaging |
Het |
| Fbxo30 |
T |
A |
10: 11,167,118 (GRCm39) |
H613Q |
possibly damaging |
Het |
| Frk |
A |
T |
10: 34,467,806 (GRCm39) |
|
probably null |
Het |
| Gm10392 |
T |
A |
11: 77,408,307 (GRCm39) |
D104V |
probably benign |
Het |
| Gpn1 |
A |
G |
5: 31,654,682 (GRCm39) |
E78G |
possibly damaging |
Het |
| Hhip |
T |
C |
8: 80,716,905 (GRCm39) |
Y506C |
probably damaging |
Het |
| Hid1 |
G |
A |
11: 115,247,576 (GRCm39) |
S274L |
possibly damaging |
Het |
| Immp2l |
G |
T |
12: 41,750,548 (GRCm39) |
|
probably benign |
Het |
| Klhl21 |
T |
C |
4: 152,094,081 (GRCm39) |
F228L |
possibly damaging |
Het |
| Lamc1 |
T |
A |
1: 153,119,224 (GRCm39) |
|
probably null |
Het |
| Lars1 |
G |
A |
18: 42,343,115 (GRCm39) |
R1101C |
probably damaging |
Het |
| Lratd1 |
G |
A |
12: 14,200,409 (GRCm39) |
A106V |
probably benign |
Het |
| Magi2 |
T |
C |
5: 19,432,330 (GRCm39) |
V15A |
probably benign |
Het |
| Map2k7 |
T |
C |
8: 4,293,621 (GRCm39) |
|
probably null |
Het |
| Mga |
T |
A |
2: 119,794,441 (GRCm39) |
H2590Q |
possibly damaging |
Het |
| Mlxip |
T |
C |
5: 123,588,286 (GRCm39) |
I238T |
possibly damaging |
Het |
| Mylk |
T |
A |
16: 34,695,956 (GRCm39) |
D230E |
probably benign |
Het |
| Nacad |
T |
A |
11: 6,551,185 (GRCm39) |
T669S |
probably benign |
Het |
| Nin |
C |
T |
12: 70,078,512 (GRCm39) |
M1691I |
probably benign |
Het |
| Nlrp4d |
C |
T |
7: 10,116,164 (GRCm39) |
A203T |
probably damaging |
Het |
| Or10aa1 |
T |
C |
1: 173,870,046 (GRCm39) |
F177L |
probably benign |
Het |
| Or10q12 |
A |
T |
19: 13,745,874 (GRCm39) |
H56L |
probably benign |
Het |
| Or4c106 |
T |
G |
2: 88,682,606 (GRCm39) |
F104C |
probably damaging |
Het |
| Or4k5 |
C |
A |
14: 50,386,231 (GRCm39) |
M33I |
probably benign |
Het |
| Or4k51 |
A |
T |
2: 111,584,770 (GRCm39) |
M59L |
probably damaging |
Het |
| Or5ac19 |
A |
G |
16: 59,089,394 (GRCm39) |
V212A |
probably benign |
Het |
| Osbp |
C |
A |
19: 11,955,193 (GRCm39) |
Q282K |
probably benign |
Het |
| Osbpl2 |
A |
G |
2: 179,790,256 (GRCm39) |
S177G |
probably damaging |
Het |
| Pax1 |
A |
G |
2: 147,208,175 (GRCm39) |
H261R |
possibly damaging |
Het |
| Pcif1 |
A |
T |
2: 164,728,647 (GRCm39) |
L274F |
probably damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,188,049 (GRCm39) |
S3420P |
probably benign |
Het |
| Prss3 |
A |
C |
6: 41,354,561 (GRCm39) |
|
probably benign |
Het |
| Ptk2b |
T |
C |
14: 66,400,563 (GRCm39) |
T751A |
possibly damaging |
Het |
| Pus10 |
T |
C |
11: 23,623,239 (GRCm39) |
V126A |
probably damaging |
Het |
| Rai14 |
A |
C |
15: 10,588,002 (GRCm39) |
D258E |
probably damaging |
Het |
| Rbp3 |
T |
C |
14: 33,676,481 (GRCm39) |
V143A |
possibly damaging |
Het |
| Sarm1 |
G |
A |
11: 78,374,153 (GRCm39) |
Q625* |
probably null |
Het |
| Scgb1b21 |
T |
G |
7: 33,227,092 (GRCm39) |
|
noncoding transcript |
Het |
| Scrn1 |
A |
T |
6: 54,497,754 (GRCm39) |
V279E |
probably damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,148,634 (GRCm39) |
T1670A |
probably damaging |
Het |
| Slc9a4 |
A |
T |
1: 40,640,122 (GRCm39) |
I305F |
probably benign |
Het |
| Smarcc1 |
A |
G |
9: 110,042,685 (GRCm39) |
T918A |
probably damaging |
Het |
| Tas2r109 |
A |
T |
6: 132,957,389 (GRCm39) |
H180Q |
probably benign |
Het |
| Tas2r121 |
G |
A |
6: 132,677,193 (GRCm39) |
R260* |
probably null |
Het |
| Tenm3 |
T |
C |
8: 48,732,109 (GRCm39) |
D1249G |
probably benign |
Het |
| Tgtp1 |
C |
G |
11: 48,878,357 (GRCm39) |
G116A |
probably damaging |
Het |
| Tial1 |
A |
G |
7: 128,045,634 (GRCm39) |
Y317H |
probably damaging |
Het |
| Top6bl |
T |
A |
19: 4,702,199 (GRCm39) |
K282N |
probably damaging |
Het |
| Trim66 |
A |
T |
7: 109,054,287 (GRCm39) |
W1308R |
probably damaging |
Het |
| Ulk2 |
T |
G |
11: 61,674,371 (GRCm39) |
K878N |
possibly damaging |
Het |
| Zfp41 |
T |
A |
15: 75,490,140 (GRCm39) |
S31T |
possibly 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 |
|
|
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 |
|
|
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'- TACAACCTTCAGCAGCCTGAGGAC -3'
(R):5'- ACGATGCAAACCCGTAGGAGTG -3'
Sequencing Primer
(F):5'- GGTCCCTGCGAATCCTTG -3'
(R):5'- TAGGAGTGCCCAGATCTCAG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation