Incidental Mutation 'R8939:Crybg3'
| ID |
680873 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crybg3
|
| Ensembl Gene |
ENSMUSG00000022723 |
| Gene Name |
beta-gamma crystallin domain containing 3 |
| Synonyms |
Gm9581 |
| MMRRC Submission |
068712-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.138)
|
| Stock # |
R8939 (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 59376512 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 1581
(M1581V)
|
| 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: M1581V
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| Meta Mutation Damage Score |
0.0703 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (71/71) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578I06Rik |
A |
G |
14: 64,225,162 (GRCm39) |
V12A |
probably benign |
Het |
| Abcc12 |
A |
G |
8: 87,243,947 (GRCm39) |
Y1069H |
probably damaging |
Het |
| Abcc9 |
T |
C |
6: 142,624,977 (GRCm39) |
T473A |
probably damaging |
Het |
| Acsm1 |
A |
T |
7: 119,239,868 (GRCm39) |
T271S |
probably benign |
Het |
| Adh6b |
T |
C |
3: 138,055,397 (GRCm39) |
I49T |
probably benign |
Het |
| Aff4 |
A |
T |
11: 53,263,231 (GRCm39) |
T84S |
probably benign |
Het |
| Angptl7 |
G |
A |
4: 148,580,956 (GRCm39) |
R280* |
probably null |
Het |
| Bhlhe23 |
T |
A |
2: 180,418,099 (GRCm39) |
K146N |
probably damaging |
Het |
| Cacna1s |
T |
C |
1: 136,014,544 (GRCm39) |
|
probably null |
Het |
| Cfap45 |
C |
G |
1: 172,372,834 (GRCm39) |
R510G |
probably damaging |
Het |
| Chl1 |
A |
G |
6: 103,642,868 (GRCm39) |
Y202C |
probably damaging |
Het |
| Chrna6 |
T |
A |
8: 27,896,870 (GRCm39) |
T336S |
probably benign |
Het |
| Clpx |
A |
G |
9: 65,231,519 (GRCm39) |
K535E |
probably benign |
Het |
| Ddx4 |
A |
T |
13: 112,758,823 (GRCm39) |
I246K |
probably benign |
Het |
| F7 |
G |
T |
8: 13,078,724 (GRCm39) |
G52C |
probably damaging |
Het |
| Fam186b |
T |
C |
15: 99,177,223 (GRCm39) |
Q701R |
probably benign |
Het |
| Fign |
T |
A |
2: 63,809,456 (GRCm39) |
M605L |
probably benign |
Het |
| Fpr2 |
T |
C |
17: 18,113,883 (GRCm39) |
F293S |
probably damaging |
Het |
| Gm40460 |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
7: 141,794,171 (GRCm39) |
|
probably benign |
Het |
| Gria2 |
A |
T |
3: 80,618,170 (GRCm39) |
|
probably benign |
Het |
| Grid1 |
G |
A |
14: 35,043,664 (GRCm39) |
D340N |
probably damaging |
Het |
| Gsto2 |
T |
C |
19: 47,873,203 (GRCm39) |
|
probably null |
Het |
| Hsd3b1 |
A |
G |
3: 98,760,299 (GRCm39) |
W231R |
probably damaging |
Het |
| Igflr1 |
CAGAG |
CAG |
7: 30,266,888 (GRCm39) |
|
probably null |
Het |
| Ighv1-80 |
C |
T |
12: 115,876,113 (GRCm39) |
G68R |
probably damaging |
Het |
| Il10ra |
A |
G |
9: 45,177,802 (GRCm39) |
V69A |
unknown |
Het |
| Klhdc1 |
C |
T |
12: 69,300,537 (GRCm39) |
A159V |
probably damaging |
Het |
| Krtap4-6 |
A |
G |
11: 99,556,229 (GRCm39) |
I166T |
unknown |
Het |
| Lce1h |
A |
T |
3: 92,670,976 (GRCm39) |
C59S |
unknown |
Het |
| Magi3 |
T |
C |
3: 103,996,748 (GRCm39) |
|
probably benign |
Het |
| Map3k1 |
G |
T |
13: 111,892,837 (GRCm39) |
S806* |
probably null |
Het |
| Map3k6 |
T |
A |
4: 132,979,954 (GRCm39) |
|
probably benign |
Het |
| Mgam |
G |
A |
6: 40,740,137 (GRCm39) |
|
probably null |
Het |
| Mtx1 |
A |
G |
3: 89,120,033 (GRCm39) |
V207A |
probably damaging |
Het |
| Muc5ac |
A |
T |
7: 141,347,091 (GRCm39) |
N356Y |
probably damaging |
Het |
| Myo16 |
T |
C |
8: 10,524,679 (GRCm39) |
F810S |
probably damaging |
Het |
| Nlrx1 |
A |
G |
9: 44,166,761 (GRCm39) |
L774P |
probably damaging |
Het |
| Nr1i2 |
C |
T |
16: 38,086,382 (GRCm39) |
V28I |
probably benign |
Het |
| Or10h28 |
A |
G |
17: 33,488,589 (GRCm39) |
K297R |
probably damaging |
Het |
| Or5b122 |
A |
C |
19: 13,562,860 (GRCm39) |
N64T |
probably damaging |
Het |
| Pcmtd2 |
T |
C |
2: 181,496,863 (GRCm39) |
|
probably benign |
Het |
| Pcnx3 |
A |
G |
19: 5,730,347 (GRCm39) |
L102P |
probably damaging |
Het |
| Pnpla6 |
A |
G |
8: 3,571,319 (GRCm39) |
E114G |
possibly damaging |
Het |
| Ppp4r1 |
T |
C |
17: 66,110,926 (GRCm39) |
V70A |
probably damaging |
Het |
| Psd2 |
G |
A |
18: 36,121,292 (GRCm39) |
V421M |
probably damaging |
Het |
| Qng1 |
C |
T |
13: 58,532,875 (GRCm39) |
A32T |
probably damaging |
Het |
| Rbak |
C |
T |
5: 143,160,025 (GRCm39) |
E343K |
possibly damaging |
Het |
| Rhbdf1 |
G |
A |
11: 32,160,093 (GRCm39) |
A136V |
probably benign |
Het |
| Rusc1 |
T |
A |
3: 88,995,337 (GRCm39) |
E231D |
probably benign |
Het |
| Rxfp1 |
T |
C |
3: 79,552,231 (GRCm39) |
E690G |
probably damaging |
Het |
| Sdr9c7 |
A |
G |
10: 127,734,776 (GRCm39) |
E88G |
probably benign |
Het |
| Sec23b |
T |
C |
2: 144,411,137 (GRCm39) |
|
probably null |
Het |
| Sgcb |
A |
T |
5: 73,801,661 (GRCm39) |
I68N |
probably damaging |
Het |
| Sh3pxd2b |
T |
C |
11: 32,364,433 (GRCm39) |
|
probably benign |
Het |
| Slc25a48 |
C |
T |
13: 56,611,519 (GRCm39) |
P209S |
probably damaging |
Het |
| Slc9a3 |
C |
A |
13: 74,311,895 (GRCm39) |
H614Q |
possibly damaging |
Het |
| Slurp1 |
G |
A |
15: 74,598,763 (GRCm39) |
S76L |
probably damaging |
Het |
| Spen |
T |
C |
4: 141,202,969 (GRCm39) |
E1886G |
possibly damaging |
Het |
| Sqor |
C |
T |
2: 122,649,549 (GRCm39) |
P151S |
possibly damaging |
Het |
| Sstr4 |
C |
A |
2: 148,238,228 (GRCm39) |
L280M |
probably damaging |
Het |
| Stard10 |
A |
G |
7: 100,991,847 (GRCm39) |
Y117C |
probably damaging |
Het |
| Stard13 |
A |
T |
5: 150,968,574 (GRCm39) |
|
probably null |
Het |
| Stim2 |
G |
T |
5: 54,262,673 (GRCm39) |
R305L |
possibly damaging |
Het |
| Syt14 |
G |
A |
1: 192,612,896 (GRCm39) |
R635C |
probably damaging |
Het |
| Tmcc3 |
A |
T |
10: 94,381,483 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,575,695 (GRCm39) |
N23320S |
possibly damaging |
Het |
| Ubqln4 |
A |
G |
3: 88,473,023 (GRCm39) |
T493A |
probably benign |
Het |
| Ugt2b34 |
A |
G |
5: 87,039,158 (GRCm39) |
L501P |
probably damaging |
Het |
| Umod |
T |
C |
7: 119,068,700 (GRCm39) |
I449V |
probably damaging |
Het |
| Vmn2r51 |
C |
A |
7: 9,833,953 (GRCm39) |
D362Y |
possibly damaging |
Het |
| Xirp2 |
A |
C |
2: 67,346,488 (GRCm39) |
T2910P |
probably benign |
Het |
| Zscan20 |
A |
G |
4: 128,498,315 (GRCm39) |
S28P |
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 |
|
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 |
|
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'- CCACCTCGGTCTTTACGATAG -3'
(R):5'- TGTCGGACTTAGGGAAAGCG -3'
Sequencing Primer
(F):5'- GGTCTTTACGATAGCTCCCTCAG -3'
(R):5'- GTAGGGAAAATGGCACTTACACCTTC -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation