Incidental Mutation 'R5950:Crybg3'
| ID |
472414 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crybg3
|
| Ensembl Gene |
ENSMUSG00000022723 |
| Gene Name |
beta-gamma crystallin domain containing 3 |
| Synonyms |
Gm9581 |
| MMRRC Submission |
044140-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.138)
|
| Stock # |
R5950 (G1)
|
| Quality Score |
132 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
59312451-59421410 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 59313934 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023407]
[ENSMUST00000044604]
[ENSMUST00000120674]
[ENSMUST00000160571]
[ENSMUST00000172910]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023407
|
| SMART Domains |
Protein: ENSMUSP00000023407
Gene: ENSMUSG00000022724
| Domain | Start | End | E-Value | Type |
|---|
|
JmjC
|
127 |
273 |
1.33e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044604
|
| SMART Domains |
Protein: ENSMUSP00000037682
Gene: ENSMUSG00000022723
| 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 |
probably benign
Transcript: ENSMUST00000120674
|
| SMART Domains |
Protein: ENSMUSP00000112899
Gene: ENSMUSG00000022724
| Domain | Start | End | E-Value | Type |
|---|
|
JmjC
|
127 |
273 |
1.33e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129762
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131272
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160571
|
| SMART Domains |
Protein: ENSMUSP00000125297
Gene: ENSMUSG00000022724
| Domain | Start | End | E-Value | Type |
|---|
|
JmjC
|
127 |
273 |
1.33e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172910
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232544
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.6%
|
| Validation Efficiency |
93% (75/81) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
G |
A |
7: 119,981,879 (GRCm39) |
G1065R |
probably damaging |
Het |
| Acox2 |
A |
T |
14: 8,255,793 (GRCm38) |
Y113N |
probably benign |
Het |
| Arid4b |
T |
A |
13: 14,365,849 (GRCm39) |
|
probably benign |
Het |
| Atf6 |
C |
T |
1: 170,662,448 (GRCm39) |
G271R |
probably damaging |
Het |
| Bnip5 |
T |
A |
17: 29,124,729 (GRCm39) |
Q256L |
possibly damaging |
Het |
| Cct8l1 |
C |
A |
5: 25,722,741 (GRCm39) |
F485L |
probably benign |
Het |
| Cdk5r2 |
A |
G |
1: 74,894,561 (GRCm39) |
E102G |
probably damaging |
Het |
| Celsr1 |
A |
T |
15: 85,916,701 (GRCm39) |
V424E |
probably damaging |
Het |
| Ces1h |
T |
C |
8: 94,089,587 (GRCm39) |
T271A |
probably benign |
Het |
| Cfap44 |
T |
C |
16: 44,300,210 (GRCm39) |
I1738T |
probably damaging |
Het |
| Cntnap3 |
G |
A |
13: 64,935,583 (GRCm39) |
L427F |
probably damaging |
Het |
| Dis3l2 |
A |
G |
1: 86,948,830 (GRCm39) |
D589G |
probably damaging |
Het |
| Dlg1 |
A |
G |
16: 31,484,401 (GRCm39) |
R10G |
probably damaging |
Het |
| Dnajc1 |
A |
C |
2: 18,311,752 (GRCm39) |
|
probably benign |
Het |
| Dpy19l2 |
T |
A |
9: 24,492,430 (GRCm39) |
T723S |
probably benign |
Het |
| Dsg3 |
A |
T |
18: 20,671,586 (GRCm39) |
N764Y |
probably damaging |
Het |
| Dst |
G |
T |
1: 34,301,141 (GRCm39) |
R3654L |
probably damaging |
Het |
| Dynlt5 |
T |
G |
4: 102,861,447 (GRCm39) |
L147R |
probably damaging |
Het |
| Evl |
C |
T |
12: 108,641,812 (GRCm39) |
T198I |
probably benign |
Het |
| Hectd2 |
A |
G |
19: 36,574,639 (GRCm39) |
|
probably benign |
Het |
| Hsp90b1 |
A |
G |
10: 86,537,609 (GRCm39) |
V232A |
possibly damaging |
Het |
| Igsf5 |
T |
C |
16: 96,174,072 (GRCm39) |
V34A |
probably benign |
Het |
| Ikzf2 |
A |
T |
1: 69,722,403 (GRCm39) |
N41K |
probably damaging |
Het |
| Kif6 |
G |
T |
17: 50,022,116 (GRCm39) |
A339S |
probably damaging |
Het |
| Klhl1 |
T |
A |
14: 96,477,790 (GRCm39) |
D426V |
probably damaging |
Het |
| Knop1 |
A |
C |
7: 118,452,557 (GRCm39) |
V54G |
probably damaging |
Het |
| Lama4 |
T |
A |
10: 38,906,444 (GRCm39) |
V270D |
probably benign |
Het |
| Lnx2 |
A |
G |
5: 146,961,160 (GRCm39) |
|
probably null |
Het |
| Lrp5 |
A |
T |
19: 3,652,333 (GRCm39) |
V1179E |
probably benign |
Het |
| Lrpprc |
T |
G |
17: 85,047,598 (GRCm39) |
D878A |
possibly damaging |
Het |
| Lrrc14 |
A |
T |
15: 76,599,510 (GRCm39) |
|
probably benign |
Het |
| Ltbp1 |
A |
T |
17: 75,580,865 (GRCm39) |
D660V |
probably damaging |
Het |
| Macf1 |
C |
G |
4: 123,333,229 (GRCm39) |
|
probably null |
Het |
| Map3k21 |
C |
A |
8: 126,668,499 (GRCm39) |
T695K |
possibly damaging |
Het |
| Mcm3ap |
T |
A |
10: 76,324,253 (GRCm39) |
D895E |
possibly damaging |
Het |
| Mink1 |
T |
A |
11: 70,500,412 (GRCm39) |
D779E |
possibly damaging |
Het |
| Mkrn3 |
T |
C |
7: 62,069,467 (GRCm39) |
E108G |
probably damaging |
Het |
| Mtcl3 |
T |
C |
10: 29,019,644 (GRCm39) |
|
probably benign |
Het |
| Nars1 |
A |
G |
18: 64,643,556 (GRCm39) |
V141A |
possibly damaging |
Het |
| Or8g34 |
T |
C |
9: 39,373,633 (GRCm39) |
V299A |
probably benign |
Het |
| Pard3b |
T |
A |
1: 62,255,690 (GRCm39) |
Y572N |
probably benign |
Het |
| Pcnx3 |
A |
C |
19: 5,717,186 (GRCm39) |
M1599R |
possibly damaging |
Het |
| Pitx2 |
A |
G |
3: 129,012,169 (GRCm39) |
S180G |
probably damaging |
Het |
| Pkd2l1 |
A |
C |
19: 44,140,529 (GRCm39) |
V608G |
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,396,361 (GRCm39) |
D1961G |
probably benign |
Het |
| Pxylp1 |
T |
C |
9: 96,721,179 (GRCm39) |
T109A |
probably damaging |
Het |
| Rai1 |
T |
A |
11: 60,078,419 (GRCm39) |
C828S |
probably damaging |
Het |
| Ralgapa1 |
T |
A |
12: 55,785,050 (GRCm39) |
T737S |
possibly damaging |
Het |
| Scn11a |
A |
G |
9: 119,640,190 (GRCm39) |
V235A |
probably damaging |
Het |
| Sfxn1 |
A |
T |
13: 54,245,306 (GRCm39) |
T134S |
probably benign |
Het |
| Skint1 |
A |
G |
4: 111,876,532 (GRCm39) |
Y151C |
probably benign |
Het |
| Slc11a1 |
G |
T |
1: 74,416,335 (GRCm39) |
W54L |
probably benign |
Het |
| Slc49a3 |
A |
T |
5: 108,593,351 (GRCm39) |
H162Q |
probably damaging |
Het |
| Synpo2l |
T |
A |
14: 20,716,003 (GRCm39) |
Q191L |
probably benign |
Het |
| Tank |
A |
G |
2: 61,483,913 (GRCm39) |
|
probably benign |
Het |
| Terb1 |
A |
T |
8: 105,215,117 (GRCm39) |
|
probably null |
Het |
| Trdc |
T |
C |
14: 54,381,768 (GRCm39) |
|
probably benign |
Het |
| Tsen34 |
A |
G |
7: 3,697,787 (GRCm39) |
I63V |
probably null |
Het |
| Ust |
T |
C |
10: 8,123,865 (GRCm39) |
H257R |
probably benign |
Het |
| Vmn2r6 |
T |
C |
3: 64,472,652 (GRCm39) |
Q23R |
probably benign |
Het |
| Wdr93 |
A |
T |
7: 79,423,179 (GRCm39) |
H481L |
probably damaging |
Het |
| Xirp2 |
A |
G |
2: 67,341,664 (GRCm39) |
T1302A |
possibly damaging |
Het |
| Zc3h6 |
C |
A |
2: 128,839,710 (GRCm39) |
Y174* |
probably null |
Het |
| Zcchc7 |
T |
G |
4: 44,931,244 (GRCm39) |
D144E |
possibly damaging |
Het |
| Zfp472 |
T |
A |
17: 33,196,481 (GRCm39) |
H185Q |
possibly damaging |
Het |
| Zfp523 |
C |
A |
17: 28,421,532 (GRCm39) |
P66H |
probably benign |
Het |
| Zfp712 |
A |
T |
13: 67,192,881 (GRCm39) |
L57Q |
probably damaging |
Het |
| Zik1 |
G |
A |
7: 10,224,498 (GRCm39) |
Q200* |
probably null |
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 |
|
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'- ATTGGCCACTGCAACTGGAC -3'
(R):5'- GGTTCAAACCCATTTTCCAACTGC -3'
Sequencing Primer
(F):5'- TGCAACTGGACCCATCGGAAG -3'
(R):5'- TGACAAGACTCATGTCATTG -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation