Incidental Mutation 'R6301:Crybg3'
ID |
509125 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Crybg3
|
Ensembl Gene |
ENSMUSG00000022723 |
Gene Name |
beta-gamma crystallin domain containing 3 |
Synonyms |
Gm9581 |
MMRRC Submission |
044466-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.138)
|
Stock # |
R6301 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
59312451-59421410 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 59350701 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 880
(S880G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037682
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044604]
[ENSMUST00000172910]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000044604
AA Change: S880G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000037682 Gene: ENSMUSG00000022723 AA Change: S880G
Domain | Start | End | E-Value | Type |
low complexity region
|
258 |
273 |
N/A |
INTRINSIC |
low complexity region
|
282 |
290 |
N/A |
INTRINSIC |
XTALbg
|
430 |
516 |
2.78e-4 |
SMART |
Pfam:Crystall
|
536 |
599 |
3.3e-7 |
PFAM |
XTALbg
|
614 |
699 |
1.2e-21 |
SMART |
XTALbg
|
707 |
790 |
5.73e-19 |
SMART |
XTALbg
|
803 |
881 |
6.87e-5 |
SMART |
XTALbg
|
889 |
969 |
1.28e-7 |
SMART |
RICIN
|
972 |
1104 |
8.16e-14 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129350
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129762
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000172910
AA Change: S2594G
PolyPhen 2
Score 0.731 (Sensitivity: 0.86; Specificity: 0.92)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232544
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
Validation Efficiency |
100% (66/66) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm2 |
C |
T |
4: 144,285,224 (GRCm39) |
A138T |
probably damaging |
Het |
Acot10 |
T |
C |
15: 20,666,348 (GRCm39) |
N131S |
probably benign |
Het |
Agbl5 |
A |
G |
5: 31,049,177 (GRCm39) |
Y220C |
probably damaging |
Het |
Ankdd1a |
C |
T |
9: 65,415,343 (GRCm39) |
A227T |
possibly damaging |
Het |
Ap3b1 |
A |
T |
13: 94,664,803 (GRCm39) |
Q914L |
unknown |
Het |
Arhgef25 |
T |
C |
10: 127,021,751 (GRCm39) |
D216G |
possibly damaging |
Het |
Bcas2 |
T |
A |
3: 103,079,187 (GRCm39) |
|
probably benign |
Het |
Bpifb5 |
A |
C |
2: 154,072,139 (GRCm39) |
H282P |
possibly damaging |
Het |
Ccdc121rt2 |
A |
T |
5: 112,598,334 (GRCm39) |
I294F |
possibly damaging |
Het |
Ccdc167 |
A |
G |
17: 29,924,556 (GRCm39) |
I15T |
probably damaging |
Het |
Cd248 |
A |
G |
19: 5,120,009 (GRCm39) |
N619S |
probably benign |
Het |
Chrna1 |
A |
G |
2: 73,400,828 (GRCm39) |
F234S |
possibly damaging |
Het |
Clcc1 |
T |
G |
3: 108,580,682 (GRCm39) |
M332R |
probably damaging |
Het |
Cmklr1 |
T |
A |
5: 113,752,999 (GRCm39) |
M1L |
possibly damaging |
Het |
Cntnap5c |
A |
G |
17: 58,199,032 (GRCm39) |
M109V |
probably benign |
Het |
Coq2 |
A |
G |
5: 100,809,729 (GRCm39) |
I18T |
possibly damaging |
Het |
Cubn |
A |
G |
2: 13,482,889 (GRCm39) |
C286R |
probably damaging |
Het |
Defa24 |
T |
C |
8: 22,225,299 (GRCm39) |
V63A |
probably benign |
Het |
Dnah6 |
C |
T |
6: 73,063,200 (GRCm39) |
R2634H |
probably damaging |
Het |
Dusp8 |
T |
A |
7: 141,636,756 (GRCm39) |
|
probably null |
Het |
Elac1 |
T |
C |
18: 73,871,939 (GRCm39) |
D352G |
probably damaging |
Het |
Ermap |
A |
T |
4: 119,042,800 (GRCm39) |
V241E |
probably damaging |
Het |
Fgf10 |
T |
A |
13: 118,852,047 (GRCm39) |
M43K |
probably benign |
Het |
Gabrd |
A |
G |
4: 155,471,724 (GRCm39) |
V193A |
probably damaging |
Het |
Hectd4 |
T |
G |
5: 121,392,283 (GRCm39) |
C182W |
possibly damaging |
Het |
Hook3 |
C |
T |
8: 26,524,968 (GRCm39) |
W26* |
probably null |
Het |
Kif1a |
C |
A |
1: 92,982,663 (GRCm39) |
E714* |
probably null |
Het |
Krt6b |
T |
C |
15: 101,587,386 (GRCm39) |
E236G |
probably damaging |
Het |
Large2 |
A |
G |
2: 92,199,861 (GRCm39) |
L209P |
probably damaging |
Het |
Lats1 |
A |
G |
10: 7,578,871 (GRCm39) |
N665S |
probably benign |
Het |
Lrrc37 |
A |
T |
11: 103,509,756 (GRCm39) |
|
probably benign |
Het |
Lrrtm3 |
T |
C |
10: 63,925,001 (GRCm39) |
I55M |
probably benign |
Het |
Ltk |
A |
G |
2: 119,582,238 (GRCm39) |
S838P |
probably damaging |
Het |
Ltn1 |
T |
C |
16: 87,217,194 (GRCm39) |
I348V |
probably benign |
Het |
Mag |
T |
A |
7: 30,600,104 (GRCm39) |
S559C |
probably damaging |
Het |
Mink1 |
A |
G |
11: 70,503,120 (GRCm39) |
H1072R |
possibly damaging |
Het |
Mycbp2 |
T |
A |
14: 103,392,862 (GRCm39) |
Q833L |
probably damaging |
Het |
Myh4 |
G |
A |
11: 67,146,159 (GRCm39) |
E1406K |
possibly damaging |
Het |
Npc1 |
C |
T |
18: 12,330,302 (GRCm39) |
V950I |
probably benign |
Het |
Npl |
A |
G |
1: 153,394,627 (GRCm39) |
|
probably null |
Het |
Or10w3 |
A |
G |
19: 13,703,753 (GRCm39) |
I43V |
probably benign |
Het |
Or11g27 |
T |
A |
14: 50,771,711 (GRCm39) |
F281I |
probably benign |
Het |
Or2m13 |
A |
T |
16: 19,226,167 (GRCm39) |
F200I |
possibly damaging |
Het |
Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
Oxsm |
A |
T |
14: 16,242,220 (GRCm38) |
I183N |
probably damaging |
Het |
Pde7a |
T |
C |
3: 19,297,327 (GRCm39) |
I108V |
probably benign |
Het |
Pgghg |
A |
T |
7: 140,526,289 (GRCm39) |
T585S |
probably damaging |
Het |
Pkhd1l1 |
G |
A |
15: 44,452,921 (GRCm39) |
D3949N |
probably damaging |
Het |
Ralgapa2 |
A |
T |
2: 146,169,331 (GRCm39) |
H1777Q |
possibly damaging |
Het |
Rela |
G |
A |
19: 5,695,438 (GRCm39) |
|
probably null |
Het |
Rilpl1 |
C |
A |
5: 124,652,602 (GRCm39) |
G41W |
probably damaging |
Het |
Rp1 |
T |
C |
1: 4,417,477 (GRCm39) |
K1212E |
probably benign |
Het |
Sgca |
A |
C |
11: 94,863,393 (GRCm39) |
L28V |
probably damaging |
Het |
Ssmem1 |
A |
G |
6: 30,519,758 (GRCm39) |
R148G |
probably damaging |
Het |
St8sia5 |
A |
T |
18: 77,333,836 (GRCm39) |
N165Y |
probably damaging |
Het |
Tbl2 |
A |
T |
5: 135,188,223 (GRCm39) |
H339L |
probably benign |
Het |
Tcof1 |
G |
A |
18: 60,961,897 (GRCm39) |
P718L |
probably damaging |
Het |
Trim72 |
A |
T |
7: 127,603,786 (GRCm39) |
E44V |
possibly damaging |
Het |
Try10 |
T |
A |
6: 41,332,523 (GRCm39) |
S60T |
probably benign |
Het |
Usp31 |
A |
T |
7: 121,247,499 (GRCm39) |
S1315T |
possibly damaging |
Het |
Xrn2 |
A |
G |
2: 146,905,262 (GRCm39) |
I856V |
probably benign |
Het |
|
Other mutations in Crybg3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00516:Crybg3
|
APN |
16 |
59,350,803 (GRCm39) |
missense |
probably benign |
0.15 |
IGL01305:Crybg3
|
APN |
16 |
59,349,590 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01809:Crybg3
|
APN |
16 |
59,345,216 (GRCm39) |
critical splice donor site |
probably benign |
0.00 |
IGL02247:Crybg3
|
APN |
16 |
59,323,513 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02252:Crybg3
|
APN |
16 |
59,372,887 (GRCm39) |
splice site |
probably benign |
|
IGL03036:Crybg3
|
APN |
16 |
59,375,542 (GRCm39) |
missense |
possibly damaging |
0.68 |
IGL03202:Crybg3
|
APN |
16 |
59,315,072 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03232:Crybg3
|
APN |
16 |
59,350,731 (GRCm39) |
missense |
probably damaging |
1.00 |
ANU22:Crybg3
|
UTSW |
16 |
59,349,590 (GRCm39) |
missense |
probably damaging |
1.00 |
R0052:Crybg3
|
UTSW |
16 |
59,386,019 (GRCm39) |
splice site |
probably benign |
|
R0335:Crybg3
|
UTSW |
16 |
59,364,503 (GRCm39) |
missense |
probably damaging |
1.00 |
R0691:Crybg3
|
UTSW |
16 |
59,385,574 (GRCm39) |
critical splice donor site |
probably null |
|
R1511:Crybg3
|
UTSW |
16 |
59,374,475 (GRCm39) |
missense |
probably benign |
0.01 |
R1579:Crybg3
|
UTSW |
16 |
59,350,561 (GRCm39) |
missense |
probably damaging |
1.00 |
R1965:Crybg3
|
UTSW |
16 |
59,323,600 (GRCm39) |
missense |
probably damaging |
1.00 |
R1982:Crybg3
|
UTSW |
16 |
59,364,488 (GRCm39) |
missense |
possibly damaging |
0.85 |
R2225:Crybg3
|
UTSW |
16 |
59,375,041 (GRCm39) |
missense |
probably damaging |
1.00 |
R4074:Crybg3
|
UTSW |
16 |
59,376,120 (GRCm39) |
unclassified |
probably benign |
|
R4210:Crybg3
|
UTSW |
16 |
59,364,414 (GRCm39) |
missense |
probably damaging |
1.00 |
R4393:Crybg3
|
UTSW |
16 |
59,380,458 (GRCm39) |
unclassified |
probably benign |
|
R4394:Crybg3
|
UTSW |
16 |
59,380,458 (GRCm39) |
unclassified |
probably benign |
|
R4397:Crybg3
|
UTSW |
16 |
59,380,458 (GRCm39) |
unclassified |
probably benign |
|
R4427:Crybg3
|
UTSW |
16 |
59,363,562 (GRCm39) |
missense |
probably damaging |
1.00 |
R4578:Crybg3
|
UTSW |
16 |
59,350,564 (GRCm39) |
missense |
probably damaging |
1.00 |
R4720:Crybg3
|
UTSW |
16 |
59,360,180 (GRCm39) |
missense |
probably damaging |
1.00 |
R4917:Crybg3
|
UTSW |
16 |
59,350,782 (GRCm39) |
missense |
probably benign |
0.14 |
R5007:Crybg3
|
UTSW |
16 |
59,378,463 (GRCm39) |
unclassified |
probably benign |
|
R5020:Crybg3
|
UTSW |
16 |
59,375,159 (GRCm39) |
missense |
possibly damaging |
0.55 |
R5155:Crybg3
|
UTSW |
16 |
59,345,264 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5306:Crybg3
|
UTSW |
16 |
59,380,356 (GRCm39) |
unclassified |
probably benign |
|
R5342:Crybg3
|
UTSW |
16 |
59,342,512 (GRCm39) |
missense |
probably damaging |
1.00 |
R5687:Crybg3
|
UTSW |
16 |
59,379,529 (GRCm39) |
missense |
probably benign |
0.00 |
R5763:Crybg3
|
UTSW |
16 |
59,374,973 (GRCm39) |
missense |
possibly damaging |
0.74 |
R5860:Crybg3
|
UTSW |
16 |
59,385,632 (GRCm39) |
missense |
probably damaging |
1.00 |
R5950:Crybg3
|
UTSW |
16 |
59,313,934 (GRCm39) |
unclassified |
probably benign |
|
R6007:Crybg3
|
UTSW |
16 |
59,374,837 (GRCm39) |
nonsense |
probably null |
|
R6042:Crybg3
|
UTSW |
16 |
59,370,838 (GRCm39) |
missense |
possibly damaging |
0.70 |
R6049:Crybg3
|
UTSW |
16 |
59,364,417 (GRCm39) |
missense |
probably benign |
0.00 |
R6242:Crybg3
|
UTSW |
16 |
59,376,053 (GRCm39) |
missense |
probably benign |
|
R6408:Crybg3
|
UTSW |
16 |
59,316,053 (GRCm39) |
missense |
possibly damaging |
0.71 |
R6724:Crybg3
|
UTSW |
16 |
59,364,501 (GRCm39) |
missense |
probably benign |
0.13 |
R6745:Crybg3
|
UTSW |
16 |
59,372,607 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6777:Crybg3
|
UTSW |
16 |
59,378,678 (GRCm39) |
unclassified |
probably benign |
|
R6843:Crybg3
|
UTSW |
16 |
59,380,159 (GRCm39) |
missense |
probably benign |
0.22 |
R6914:Crybg3
|
UTSW |
16 |
59,360,183 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6942:Crybg3
|
UTSW |
16 |
59,360,183 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7033:Crybg3
|
UTSW |
16 |
59,374,528 (GRCm39) |
missense |
probably damaging |
1.00 |
R7091:Crybg3
|
UTSW |
16 |
59,377,531 (GRCm39) |
missense |
possibly damaging |
0.77 |
R7133:Crybg3
|
UTSW |
16 |
59,357,167 (GRCm39) |
missense |
probably damaging |
1.00 |
R7193:Crybg3
|
UTSW |
16 |
59,379,956 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7204:Crybg3
|
UTSW |
16 |
59,379,253 (GRCm39) |
missense |
probably benign |
0.00 |
R7398:Crybg3
|
UTSW |
16 |
59,377,688 (GRCm39) |
missense |
probably benign |
0.38 |
R7666:Crybg3
|
UTSW |
16 |
59,379,700 (GRCm39) |
nonsense |
probably null |
|
R7691:Crybg3
|
UTSW |
16 |
59,376,497 (GRCm39) |
missense |
not run |
|
R7714:Crybg3
|
UTSW |
16 |
59,379,236 (GRCm39) |
missense |
probably benign |
0.19 |
R7860:Crybg3
|
UTSW |
16 |
59,375,605 (GRCm39) |
missense |
probably benign |
0.04 |
R7901:Crybg3
|
UTSW |
16 |
59,377,907 (GRCm39) |
missense |
probably damaging |
0.98 |
R8371:Crybg3
|
UTSW |
16 |
59,377,414 (GRCm39) |
missense |
probably benign |
0.00 |
R8394:Crybg3
|
UTSW |
16 |
59,378,651 (GRCm39) |
missense |
probably benign |
0.06 |
R8438:Crybg3
|
UTSW |
16 |
59,385,655 (GRCm39) |
missense |
probably benign |
0.02 |
R8529:Crybg3
|
UTSW |
16 |
59,376,984 (GRCm39) |
missense |
probably damaging |
0.98 |
R8699:Crybg3
|
UTSW |
16 |
59,375,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R8766:Crybg3
|
UTSW |
16 |
59,375,696 (GRCm39) |
missense |
probably benign |
0.05 |
R8767:Crybg3
|
UTSW |
16 |
59,376,500 (GRCm39) |
missense |
probably benign |
|
R8789:Crybg3
|
UTSW |
16 |
59,375,359 (GRCm39) |
missense |
probably benign |
0.00 |
R8871:Crybg3
|
UTSW |
16 |
59,378,519 (GRCm39) |
missense |
probably benign |
|
R8878:Crybg3
|
UTSW |
16 |
59,380,547 (GRCm39) |
missense |
probably benign |
0.09 |
R8894:Crybg3
|
UTSW |
16 |
59,342,552 (GRCm39) |
missense |
probably damaging |
0.97 |
R8928:Crybg3
|
UTSW |
16 |
59,376,715 (GRCm39) |
missense |
probably benign |
0.40 |
R8928:Crybg3
|
UTSW |
16 |
59,315,123 (GRCm39) |
missense |
probably benign |
0.31 |
R8939:Crybg3
|
UTSW |
16 |
59,376,512 (GRCm39) |
missense |
probably benign |
0.00 |
R9010:Crybg3
|
UTSW |
16 |
59,374,702 (GRCm39) |
missense |
probably damaging |
0.98 |
R9266:Crybg3
|
UTSW |
16 |
59,372,544 (GRCm39) |
missense |
probably damaging |
0.99 |
R9348:Crybg3
|
UTSW |
16 |
59,421,256 (GRCm39) |
start codon destroyed |
probably null |
0.66 |
R9353:Crybg3
|
UTSW |
16 |
59,421,107 (GRCm39) |
critical splice donor site |
probably null |
|
R9406:Crybg3
|
UTSW |
16 |
59,378,839 (GRCm39) |
missense |
probably benign |
0.42 |
R9429:Crybg3
|
UTSW |
16 |
59,375,556 (GRCm39) |
missense |
probably benign |
0.08 |
R9464:Crybg3
|
UTSW |
16 |
59,376,120 (GRCm39) |
unclassified |
probably benign |
|
R9621:Crybg3
|
UTSW |
16 |
59,326,613 (GRCm39) |
missense |
possibly damaging |
0.73 |
R9703:Crybg3
|
UTSW |
16 |
59,375,939 (GRCm39) |
missense |
probably damaging |
0.96 |
R9751:Crybg3
|
UTSW |
16 |
59,377,887 (GRCm39) |
missense |
possibly damaging |
0.55 |
R9766:Crybg3
|
UTSW |
16 |
59,376,207 (GRCm39) |
missense |
probably benign |
0.03 |
RF007:Crybg3
|
UTSW |
16 |
59,377,067 (GRCm39) |
missense |
possibly damaging |
0.94 |
Z1177:Crybg3
|
UTSW |
16 |
59,376,841 (GRCm39) |
missense |
probably benign |
0.09 |
Z1177:Crybg3
|
UTSW |
16 |
59,375,756 (GRCm39) |
nonsense |
probably null |
|
Z1187:Crybg3
|
UTSW |
16 |
59,326,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GCGCTTCACTTACCAATTGG -3'
(R):5'- GCGTATGCTTCCTTAAACAGAC -3'
Sequencing Primer
(F):5'- ACAAGATTGTATTACTTGATCCTCCC -3'
(R):5'- ATGCTTCCTTAAACAGACCCCTTTC -3'
|
Posted On |
2018-04-02 |