Incidental Mutation 'R8371:Crybg3'
| ID |
646416 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crybg3
|
| Ensembl Gene |
ENSMUSG00000022723 |
| Gene Name |
beta-gamma crystallin domain containing 3 |
| Synonyms |
Gm9581 |
| MMRRC Submission |
067740-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.138)
|
| Stock # |
R8371 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
59312451-59421410 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59377414 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 1280
(M1280T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156047
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044604]
[ENSMUST00000172910]
|
| AlphaFold |
no structure available at present |
| 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: ENSMUST00000172910
AA Change: M1280T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
G |
T |
11: 109,945,473 (GRCm39) |
Q1050K |
probably benign |
Het |
| B4galt5 |
A |
G |
2: 167,151,145 (GRCm39) |
M121T |
probably damaging |
Het |
| Birc2 |
A |
G |
9: 7,849,427 (GRCm39) |
L549P |
probably damaging |
Het |
| Cacna1b |
T |
C |
2: 24,610,036 (GRCm39) |
N368S |
possibly damaging |
Het |
| Cbr1 |
A |
G |
16: 93,406,779 (GRCm39) |
E165G |
probably damaging |
Het |
| Ccdc178 |
T |
C |
18: 21,944,561 (GRCm39) |
D866G |
possibly damaging |
Het |
| Cd40 |
G |
A |
2: 164,908,458 (GRCm39) |
G178E |
probably damaging |
Het |
| Cers1 |
T |
A |
8: 70,782,223 (GRCm39) |
L349H |
probably benign |
Het |
| Chd8 |
T |
C |
14: 52,470,275 (GRCm39) |
K445R |
probably benign |
Het |
| Clca3a2 |
G |
T |
3: 144,513,114 (GRCm39) |
S477* |
probably null |
Het |
| Clec4a1 |
T |
A |
6: 122,910,882 (GRCm39) |
*246R |
probably null |
Het |
| CN725425 |
T |
C |
15: 91,124,973 (GRCm39) |
I171T |
probably benign |
Het |
| Csf1r |
A |
T |
18: 61,250,663 (GRCm39) |
Q458L |
probably benign |
Het |
| Cyp3a11 |
A |
T |
5: 145,805,438 (GRCm39) |
V193E |
possibly damaging |
Het |
| Cys1 |
A |
G |
12: 24,718,694 (GRCm39) |
I53T |
probably benign |
Het |
| Dhrs3 |
A |
C |
4: 144,645,953 (GRCm39) |
|
probably null |
Het |
| Dhx57 |
T |
C |
17: 80,582,919 (GRCm39) |
R229G |
probably benign |
Het |
| Dhx9 |
T |
C |
1: 153,331,961 (GRCm39) |
N1336D |
unknown |
Het |
| Dmgdh |
T |
A |
13: 93,845,238 (GRCm39) |
H410Q |
probably benign |
Het |
| Dmxl1 |
T |
A |
18: 50,031,781 (GRCm39) |
M2225K |
probably benign |
Het |
| Eif4g3 |
T |
G |
4: 137,824,156 (GRCm39) |
Y80D |
probably damaging |
Het |
| Ephx4 |
A |
T |
5: 107,561,384 (GRCm39) |
I164F |
possibly damaging |
Het |
| Eppk1 |
C |
T |
15: 75,994,319 (GRCm39) |
R854Q |
probably benign |
Het |
| Fhl4 |
G |
A |
10: 84,934,637 (GRCm39) |
A48V |
probably benign |
Het |
| Fmn2 |
T |
C |
1: 174,437,173 (GRCm39) |
L1048S |
unknown |
Het |
| Gemin5 |
T |
C |
11: 58,017,384 (GRCm39) |
M1212V |
probably benign |
Het |
| Gm9195 |
C |
T |
14: 72,697,899 (GRCm39) |
V1294I |
probably benign |
Het |
| Gpr55 |
A |
T |
1: 85,868,849 (GRCm39) |
V244E |
probably damaging |
Het |
| Hgfac |
T |
A |
5: 35,202,787 (GRCm39) |
F429Y |
probably damaging |
Het |
| Jade2 |
T |
A |
11: 51,715,959 (GRCm39) |
E415D |
probably benign |
Het |
| Kcnj4 |
T |
A |
15: 79,369,342 (GRCm39) |
I213F |
probably damaging |
Het |
| Kcnq5 |
G |
A |
1: 21,549,648 (GRCm39) |
R360C |
probably damaging |
Het |
| Klhl33 |
C |
T |
14: 51,129,689 (GRCm39) |
R312Q |
probably damaging |
Het |
| Krt82 |
T |
C |
15: 101,453,546 (GRCm39) |
E280G |
probably benign |
Het |
| Lemd1 |
C |
A |
1: 132,156,687 (GRCm39) |
Q40K |
probably damaging |
Het |
| Lmo7 |
T |
C |
14: 102,124,444 (GRCm39) |
L423P |
possibly damaging |
Het |
| Lrp8 |
A |
G |
4: 107,726,268 (GRCm39) |
Y773C |
probably damaging |
Het |
| Miga2 |
AAGAG |
AAG |
2: 30,265,755 (GRCm39) |
|
probably null |
Het |
| Mroh8 |
A |
T |
2: 157,094,896 (GRCm39) |
Y363* |
probably null |
Het |
| Or2n1c |
G |
A |
17: 38,519,189 (GRCm39) |
A18T |
probably benign |
Het |
| Or51a25 |
C |
A |
7: 102,372,790 (GRCm39) |
K302N |
probably damaging |
Het |
| Or5p61 |
G |
A |
7: 107,758,435 (GRCm39) |
T215I |
probably benign |
Het |
| Pcdha2 |
T |
C |
18: 37,073,316 (GRCm39) |
Y316H |
possibly damaging |
Het |
| Pcdha6 |
T |
A |
18: 37,102,920 (GRCm39) |
C704* |
probably null |
Het |
| Pik3c2g |
G |
A |
6: 139,881,782 (GRCm39) |
V923M |
unknown |
Het |
| Rhd |
A |
G |
4: 134,603,694 (GRCm39) |
S72G |
probably benign |
Het |
| Rhot1 |
T |
C |
11: 80,134,292 (GRCm39) |
L295P |
probably damaging |
Het |
| Rrp1b |
A |
G |
17: 32,268,458 (GRCm39) |
E139G |
possibly damaging |
Het |
| Scnn1a |
T |
G |
6: 125,320,806 (GRCm39) |
Y620D |
possibly damaging |
Het |
| Serpinb12 |
A |
T |
1: 106,884,135 (GRCm39) |
I294L |
probably benign |
Het |
| Serpinb3d |
T |
C |
1: 107,008,469 (GRCm39) |
D132G |
probably damaging |
Het |
| Slc26a3 |
A |
T |
12: 31,502,541 (GRCm39) |
D254V |
probably damaging |
Het |
| Srrm1 |
A |
T |
4: 135,052,532 (GRCm39) |
I614N |
unknown |
Het |
| Stt3b |
A |
G |
9: 115,095,243 (GRCm39) |
Y263H |
probably damaging |
Het |
| Taf7 |
T |
A |
18: 37,776,552 (GRCm39) |
K5I |
probably damaging |
Het |
| Tbck |
C |
A |
3: 132,458,285 (GRCm39) |
H638Q |
possibly damaging |
Het |
| Tnfsf9 |
A |
C |
17: 57,412,541 (GRCm39) |
D37A |
probably benign |
Het |
| Trim71 |
C |
A |
9: 114,344,857 (GRCm39) |
V354F |
probably benign |
Het |
| Tspoap1 |
T |
G |
11: 87,669,127 (GRCm39) |
C1467G |
probably benign |
Het |
| Xirp1 |
C |
T |
9: 119,848,499 (GRCm39) |
R128Q |
possibly damaging |
Het |
| Zc3h12d |
GCCC |
GCC |
10: 7,715,735 (GRCm39) |
|
probably null |
Het |
| Zfhx2 |
T |
C |
14: 55,301,549 (GRCm39) |
D2145G |
probably damaging |
Het |
| Zfy2 |
T |
C |
Y: 2,117,168 (GRCm39) |
T220A |
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 |
|
|
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 |
|
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'- CTGCCTGTTCTGATACCAAGAAC -3'
(R):5'- GCCCAAGAGGATGTAATGAATCC -3'
Sequencing Primer
(F):5'- AACTCCCTAACTACGGCGTGTG -3'
(R):5'- GGTACTGTGAAAGAAGCTATCCCATC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation