Incidental Mutation 'R7860:Crybg3'
| ID |
607463 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crybg3
|
| Ensembl Gene |
ENSMUSG00000022723 |
| Gene Name |
beta-gamma crystallin domain containing 3 |
| Synonyms |
Gm9581 |
| MMRRC Submission |
045913-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.138)
|
| Stock # |
R7860 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
59312451-59421410 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 59375605 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 169
(M169K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037682
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044604]
[ENSMUST00000172910]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044604
AA Change: M169K
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000037682
Gene: ENSMUSG00000022723
AA Change: M169K
| 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: ENSMUST00000172910
AA Change: M1883K
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
99% (78/79) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
A |
G |
6: 91,905,707 (GRCm39) |
T493A |
probably damaging |
Het |
| Aars1 |
A |
G |
8: 111,776,493 (GRCm39) |
K650E |
probably benign |
Het |
| Abcb1b |
C |
T |
5: 8,882,258 (GRCm39) |
S793F |
probably benign |
Het |
| Adamts18 |
T |
A |
8: 114,501,908 (GRCm39) |
I318F |
probably damaging |
Het |
| Adcy8 |
A |
G |
15: 64,571,322 (GRCm39) |
I1137T |
probably damaging |
Het |
| Ambra1 |
T |
A |
2: 91,603,838 (GRCm39) |
F607L |
probably benign |
Het |
| Ankrd46 |
A |
T |
15: 36,479,566 (GRCm39) |
V175D |
possibly damaging |
Het |
| Arhgap28 |
C |
A |
17: 68,208,277 (GRCm39) |
E114* |
probably null |
Het |
| Arrdc1 |
C |
T |
2: 24,816,158 (GRCm39) |
G282S |
probably damaging |
Het |
| Atp1a3 |
A |
T |
7: 24,681,216 (GRCm39) |
L790Q |
probably damaging |
Het |
| Bend5 |
T |
A |
4: 111,272,406 (GRCm39) |
V12D |
probably damaging |
Het |
| Bod1l |
C |
T |
5: 41,976,608 (GRCm39) |
E1569K |
probably damaging |
Het |
| Cdc123 |
T |
A |
2: 5,808,775 (GRCm39) |
I234L |
probably benign |
Het |
| Cep126 |
T |
G |
9: 8,120,749 (GRCm39) |
E91D |
probably damaging |
Het |
| Cep89 |
T |
A |
7: 35,113,570 (GRCm39) |
D199E |
possibly damaging |
Het |
| Ces1d |
T |
C |
8: 93,897,765 (GRCm39) |
T442A |
probably benign |
Het |
| Chsy3 |
C |
T |
18: 59,542,299 (GRCm39) |
A479V |
probably benign |
Het |
| Clcn4 |
C |
A |
7: 7,296,060 (GRCm39) |
G261C |
probably damaging |
Het |
| Clhc1 |
A |
T |
11: 29,507,651 (GRCm39) |
|
probably null |
Het |
| Cnot3 |
T |
A |
7: 3,658,565 (GRCm39) |
|
probably null |
Het |
| Col9a1 |
C |
A |
1: 24,276,261 (GRCm39) |
P723H |
probably damaging |
Het |
| Cxxc4 |
A |
G |
3: 133,963,814 (GRCm39) |
R353G |
probably benign |
Het |
| Dennd3 |
A |
T |
15: 73,412,657 (GRCm39) |
I440F |
probably damaging |
Het |
| Dnai3 |
A |
G |
3: 145,772,675 (GRCm39) |
L457P |
probably damaging |
Het |
| Elmo3 |
G |
T |
8: 106,035,649 (GRCm39) |
S553I |
probably damaging |
Het |
| Elovl2 |
A |
G |
13: 41,340,943 (GRCm39) |
Y198H |
probably benign |
Het |
| Epm2aip1 |
A |
G |
9: 111,101,105 (GRCm39) |
Y26C |
probably damaging |
Het |
| Ext1 |
A |
C |
15: 52,953,335 (GRCm39) |
C510G |
possibly damaging |
Het |
| Extl3 |
A |
T |
14: 65,314,938 (GRCm39) |
D81E |
probably benign |
Het |
| Fbxl5 |
T |
A |
5: 43,916,018 (GRCm39) |
T465S |
probably benign |
Het |
| Fbxo31 |
G |
A |
8: 122,291,384 (GRCm39) |
|
probably null |
Het |
| Gabrr2 |
A |
T |
4: 33,081,470 (GRCm39) |
K169* |
probably null |
Het |
| Haus4 |
A |
G |
14: 54,779,602 (GRCm39) |
Y341H |
probably damaging |
Het |
| Itgae |
A |
T |
11: 73,011,099 (GRCm39) |
|
probably null |
Het |
| Jmjd7 |
C |
T |
2: 119,860,996 (GRCm39) |
H149Y |
possibly damaging |
Het |
| Kcnh2 |
C |
T |
5: 24,529,561 (GRCm39) |
C725Y |
probably damaging |
Het |
| Mroh1 |
C |
T |
15: 76,331,532 (GRCm39) |
P1252L |
probably benign |
Het |
| Ms4a14 |
A |
G |
19: 11,280,308 (GRCm39) |
F750S |
probably benign |
Het |
| Naf1 |
T |
A |
8: 67,313,165 (GRCm39) |
D49E |
unknown |
Het |
| Notch3 |
T |
C |
17: 32,341,747 (GRCm39) |
T2002A |
possibly damaging |
Het |
| Or10q12 |
T |
A |
19: 13,745,716 (GRCm39) |
D3E |
probably benign |
Het |
| Or14c44 |
A |
G |
7: 86,057,119 (GRCm39) |
|
probably benign |
Het |
| Or1e33 |
A |
T |
11: 73,738,333 (GRCm39) |
I206N |
probably benign |
Het |
| Or2d3c |
A |
T |
7: 106,525,777 (GRCm39) |
D296E |
probably benign |
Het |
| Or2l13b |
A |
T |
16: 19,349,167 (GRCm39) |
C168S |
probably damaging |
Het |
| Or7e175 |
A |
T |
9: 20,048,871 (GRCm39) |
N153I |
probably benign |
Het |
| Or9s23 |
G |
A |
1: 92,501,810 (GRCm39) |
D306N |
probably benign |
Het |
| Pck1 |
A |
G |
2: 172,997,743 (GRCm39) |
T271A |
possibly damaging |
Het |
| Penk |
A |
G |
4: 4,133,976 (GRCm39) |
W224R |
possibly damaging |
Het |
| Per2 |
C |
A |
1: 91,372,481 (GRCm39) |
V198F |
probably damaging |
Het |
| Phf11d |
A |
G |
14: 59,599,280 (GRCm39) |
M23T |
probably damaging |
Het |
| Pla2g4d |
A |
G |
2: 120,097,211 (GRCm39) |
V796A |
probably benign |
Het |
| Pramel51 |
A |
T |
12: 88,143,122 (GRCm39) |
N360K |
possibly damaging |
Het |
| Prdx6 |
A |
T |
1: 161,069,428 (GRCm39) |
|
probably null |
Het |
| Prep |
A |
T |
10: 44,967,108 (GRCm39) |
N47I |
probably damaging |
Het |
| Prodh2 |
A |
T |
7: 30,212,064 (GRCm39) |
|
probably null |
Het |
| Prss38 |
G |
T |
11: 59,265,996 (GRCm39) |
H96N |
probably damaging |
Het |
| Rab11a |
C |
A |
9: 64,635,613 (GRCm39) |
E47* |
probably null |
Het |
| Rad18 |
C |
T |
6: 112,626,798 (GRCm39) |
G369D |
probably benign |
Het |
| Rragc |
T |
C |
4: 123,823,717 (GRCm39) |
V330A |
probably damaging |
Het |
| Serpina9 |
A |
T |
12: 103,967,680 (GRCm39) |
H238Q |
probably benign |
Het |
| Serpinb3b |
T |
A |
1: 107,085,467 (GRCm39) |
K91N |
probably damaging |
Het |
| Slc16a12 |
T |
G |
19: 34,652,730 (GRCm39) |
S139R |
probably benign |
Het |
| Slc22a27 |
T |
A |
19: 7,887,472 (GRCm39) |
|
probably null |
Het |
| Slc25a11 |
A |
G |
11: 70,536,005 (GRCm39) |
V243A |
probably benign |
Het |
| Slc38a9 |
A |
T |
13: 112,868,148 (GRCm39) |
I545F |
probably benign |
Het |
| Slc39a8 |
A |
T |
3: 135,590,157 (GRCm39) |
H349L |
probably damaging |
Het |
| Slk |
C |
T |
19: 47,630,510 (GRCm39) |
T1227I |
possibly damaging |
Het |
| Spdye4b |
A |
G |
5: 143,180,609 (GRCm39) |
E25G |
possibly damaging |
Het |
| Sprr2b |
CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC |
CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC |
3: 92,224,826 (GRCm39) |
|
probably benign |
Het |
| St3gal1 |
A |
G |
15: 66,983,114 (GRCm39) |
V214A |
probably benign |
Het |
| St7l |
T |
A |
3: 104,833,893 (GRCm39) |
M550K |
probably benign |
Het |
| Tbk1 |
A |
C |
10: 121,388,151 (GRCm39) |
F638C |
possibly damaging |
Het |
| Tex101 |
A |
T |
7: 24,369,190 (GRCm39) |
C114S |
probably damaging |
Het |
| Ttll13 |
A |
G |
7: 79,905,135 (GRCm39) |
M384V |
probably benign |
Het |
| Ugt2b37 |
A |
T |
5: 87,402,189 (GRCm39) |
D147E |
probably damaging |
Het |
| Vmn1r10 |
A |
T |
6: 57,090,686 (GRCm39) |
T93S |
probably benign |
Het |
| Wasl |
G |
A |
6: 24,619,396 (GRCm39) |
P375S |
unknown |
Het |
| Zfp236 |
C |
A |
18: 82,692,481 (GRCm39) |
E165* |
probably null |
Het |
| Zfp839 |
A |
T |
12: 110,822,060 (GRCm39) |
R291S |
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 |
|
|
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 |
|
|
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 |
|
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'- GGGACAGACATTATTTTCTTGAGC -3'
(R):5'- CAGAGCCTGTGCCTTCTAAG -3'
Sequencing Primer
(F):5'- ACAGACATTATTTTCTTGAGCCTTAC -3'
(R):5'- GCCTGTGCCTTCTAAGATAGAAATGG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation