Incidental Mutation 'R4210:Crybg3'
ID |
319158 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Crybg3
|
Ensembl Gene |
ENSMUSG00000022723 |
Gene Name |
beta-gamma crystallin domain containing 3 |
Synonyms |
Gm9581 |
MMRRC Submission |
041039-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.138)
|
Stock # |
R4210 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
59312451-59421410 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 59364414 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 2403
(S2403P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000156047
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044604]
[ENSMUST00000139989]
[ENSMUST00000172910]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044604
AA Change: S689P
PolyPhen 2
Score 0.849 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000037682 Gene: ENSMUSG00000022723 AA Change: S689P
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: ENSMUST00000139989
|
SMART Domains |
Protein: ENSMUSP00000122663 Gene: ENSMUSG00000022723
Domain | Start | End | E-Value | Type |
XTALbg
|
1 |
86 |
2.15e-3 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000172910
AA Change: S2403P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932414N04Rik |
C |
T |
2: 68,490,222 (GRCm39) |
|
probably benign |
Het |
Abl1 |
T |
C |
2: 31,691,708 (GRCm39) |
Y1076H |
probably damaging |
Het |
Adamts7 |
C |
T |
9: 90,076,063 (GRCm39) |
T1265I |
possibly damaging |
Het |
Adgb |
T |
C |
10: 10,283,209 (GRCm39) |
I166V |
probably benign |
Het |
Axin2 |
T |
A |
11: 108,833,402 (GRCm39) |
I529N |
possibly damaging |
Het |
Bbof1 |
T |
C |
12: 84,455,957 (GRCm39) |
M1T |
probably null |
Het |
Clcc1 |
A |
T |
3: 108,570,907 (GRCm39) |
Y105F |
possibly damaging |
Het |
Cmpk2 |
G |
T |
12: 26,519,570 (GRCm39) |
A74S |
probably benign |
Het |
Colgalt1 |
G |
A |
8: 72,075,350 (GRCm39) |
V419I |
probably benign |
Het |
D930048N14Rik |
G |
A |
11: 51,545,632 (GRCm39) |
|
probably benign |
Het |
Dnah7b |
T |
A |
1: 46,176,578 (GRCm39) |
C733S |
possibly damaging |
Het |
Drc1 |
G |
A |
5: 30,504,490 (GRCm39) |
V211M |
possibly damaging |
Het |
Ephx2 |
T |
C |
14: 66,322,393 (GRCm39) |
T525A |
probably damaging |
Het |
Eya4 |
A |
G |
10: 23,102,698 (GRCm39) |
|
probably null |
Het |
Foxc1 |
T |
C |
13: 31,991,690 (GRCm39) |
F167S |
probably damaging |
Het |
Fsip2 |
C |
T |
2: 82,805,493 (GRCm39) |
T604I |
probably damaging |
Het |
Gm6370 |
C |
A |
5: 146,430,734 (GRCm39) |
F306L |
possibly damaging |
Het |
Hmgcr |
A |
G |
13: 96,796,729 (GRCm39) |
V187A |
probably damaging |
Het |
Igkv9-129 |
T |
A |
6: 67,817,242 (GRCm39) |
S114R |
possibly damaging |
Het |
Ikbke |
T |
A |
1: 131,191,085 (GRCm39) |
I519F |
probably damaging |
Het |
Ikzf3 |
T |
C |
11: 98,381,313 (GRCm39) |
Y89C |
probably benign |
Het |
Inpp5j |
T |
G |
11: 3,451,107 (GRCm39) |
H514P |
probably damaging |
Het |
Iqsec3 |
T |
C |
6: 121,389,999 (GRCm39) |
|
probably benign |
Het |
Itga3 |
C |
A |
11: 94,953,449 (GRCm39) |
V298L |
probably benign |
Het |
Kel |
C |
T |
6: 41,675,359 (GRCm39) |
W297* |
probably null |
Het |
Larp7 |
T |
A |
3: 127,340,603 (GRCm39) |
R112S |
probably benign |
Het |
Lbh |
T |
A |
17: 73,228,178 (GRCm39) |
|
probably null |
Het |
Lrba |
G |
A |
3: 86,267,433 (GRCm39) |
G1708S |
probably damaging |
Het |
Lrig2 |
C |
T |
3: 104,374,620 (GRCm39) |
V154I |
probably benign |
Het |
Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
Mast4 |
A |
T |
13: 102,875,713 (GRCm39) |
F1318L |
probably damaging |
Het |
Ncam2 |
T |
C |
16: 81,323,991 (GRCm39) |
V545A |
probably benign |
Het |
Numa1 |
T |
G |
7: 101,658,945 (GRCm39) |
L356R |
probably damaging |
Het |
Or2w1 |
A |
T |
13: 21,317,607 (GRCm39) |
I221L |
possibly damaging |
Het |
Or6n2 |
G |
A |
1: 173,897,574 (GRCm39) |
A237T |
probably damaging |
Het |
Pcgf5 |
C |
A |
19: 36,414,740 (GRCm39) |
N26K |
possibly damaging |
Het |
Pdlim4 |
T |
G |
11: 53,946,744 (GRCm39) |
D181A |
possibly damaging |
Het |
Phtf1 |
G |
A |
3: 103,910,919 (GRCm39) |
|
probably null |
Het |
Pik3r4 |
G |
A |
9: 105,527,957 (GRCm39) |
A437T |
possibly damaging |
Het |
Proser3 |
G |
A |
7: 30,245,525 (GRCm39) |
|
probably benign |
Het |
Rax |
T |
A |
18: 66,068,152 (GRCm39) |
N318Y |
unknown |
Het |
Rnf152 |
A |
G |
1: 105,212,077 (GRCm39) |
V160A |
probably benign |
Het |
Serpina3a |
A |
T |
12: 104,084,902 (GRCm39) |
D99V |
probably benign |
Het |
Sidt2 |
T |
C |
9: 45,854,073 (GRCm39) |
T652A |
probably benign |
Het |
Slc12a7 |
A |
G |
13: 73,962,962 (GRCm39) |
Y1054C |
probably damaging |
Het |
Slc9a5 |
A |
G |
8: 106,085,103 (GRCm39) |
N535D |
possibly damaging |
Het |
Sspo |
C |
A |
6: 48,441,835 (GRCm39) |
H1948Q |
probably benign |
Het |
Stap2 |
G |
T |
17: 56,304,827 (GRCm39) |
Y318* |
probably null |
Het |
Sytl1 |
T |
C |
4: 132,980,876 (GRCm39) |
D421G |
probably damaging |
Het |
Taar7e |
A |
T |
10: 23,913,932 (GRCm39) |
I141F |
probably damaging |
Het |
Taar7f |
T |
A |
10: 23,925,921 (GRCm39) |
W172R |
probably damaging |
Het |
Tcn2 |
T |
C |
11: 3,872,114 (GRCm39) |
K338E |
possibly damaging |
Het |
Tenm3 |
C |
T |
8: 48,802,439 (GRCm39) |
G374D |
probably damaging |
Het |
Terf2 |
A |
G |
8: 107,806,080 (GRCm39) |
S291P |
probably damaging |
Het |
Tex16 |
T |
A |
X: 111,030,640 (GRCm39) |
D1046E |
probably benign |
Het |
Tmod4 |
A |
G |
3: 95,035,140 (GRCm39) |
D215G |
probably benign |
Het |
Tnxb |
T |
C |
17: 34,929,951 (GRCm39) |
I2895T |
possibly damaging |
Het |
Tsbp1 |
G |
T |
17: 34,679,257 (GRCm39) |
|
probably benign |
Het |
Urgcp |
C |
A |
11: 5,665,878 (GRCm39) |
G820V |
probably damaging |
Het |
Uxs1 |
T |
A |
1: 43,789,398 (GRCm39) |
H419L |
possibly damaging |
Het |
Vmn1r152 |
A |
T |
7: 22,223,004 (GRCm39) |
T205S |
possibly damaging |
Het |
Vmn1r79 |
A |
G |
7: 11,910,415 (GRCm39) |
Y99C |
possibly damaging |
Het |
Zc3h14 |
A |
G |
12: 98,751,658 (GRCm39) |
H199R |
probably damaging |
Het |
Zfand2b |
A |
T |
1: 75,146,454 (GRCm39) |
M110L |
probably benign |
Het |
Zfp976 |
A |
G |
7: 42,265,749 (GRCm39) |
F12S |
probably damaging |
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 |
|
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 |
|
R6301:Crybg3
|
UTSW |
16 |
59,350,701 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- AGCCAGGAAGTCGTCTTTCTTG -3'
(R):5'- TGTGGAGAAATCCCATGGC -3'
Sequencing Primer
(F):5'- GAAGTCGTCTTTCTTGGGTACCC -3'
(R):5'- GAAATCATTGTAACCGTGTGTCCTG -3'
|
Posted On |
2015-06-10 |