Incidental Mutation 'R7412:Crybg2'
ID |
575138 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Crybg2
|
Ensembl Gene |
ENSMUSG00000012123 |
Gene Name |
crystallin beta-gamma domain containing 2 |
Synonyms |
Aim1l |
MMRRC Submission |
045493-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.876)
|
Stock # |
R7412 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
133788126-133819815 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 133801434 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 865
(T865A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154159
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000121391]
[ENSMUST00000137053]
[ENSMUST00000149956]
[ENSMUST00000219402]
[ENSMUST00000227683]
|
AlphaFold |
A0A2I3BQG2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000121391
AA Change: T556A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000114099 Gene: ENSMUSG00000012123 AA Change: T556A
Domain | Start | End | E-Value | Type |
low complexity region
|
171 |
205 |
N/A |
INTRINSIC |
low complexity region
|
210 |
226 |
N/A |
INTRINSIC |
low complexity region
|
414 |
443 |
N/A |
INTRINSIC |
low complexity region
|
560 |
582 |
N/A |
INTRINSIC |
low complexity region
|
608 |
625 |
N/A |
INTRINSIC |
coiled coil region
|
683 |
703 |
N/A |
INTRINSIC |
low complexity region
|
812 |
824 |
N/A |
INTRINSIC |
XTALbg
|
842 |
921 |
2.56e-7 |
SMART |
XTALbg
|
929 |
1010 |
9.33e-10 |
SMART |
XTALbg
|
1024 |
1110 |
5.06e-29 |
SMART |
XTALbg
|
1118 |
1199 |
1.4e-22 |
SMART |
XTALbg
|
1212 |
1291 |
2.22e-16 |
SMART |
XTALbg
|
1299 |
1379 |
1.69e-16 |
SMART |
RICIN
|
1383 |
1514 |
7.89e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137053
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149504
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149956
|
SMART Domains |
Protein: ENSMUSP00000123349 Gene: ENSMUSG00000012123
Domain | Start | End | E-Value | Type |
XTALbg
|
1 |
60 |
1.39e-2 |
SMART |
XTALbg
|
62 |
148 |
3.99e-27 |
SMART |
XTALbg
|
156 |
237 |
1.4e-22 |
SMART |
XTALbg
|
250 |
293 |
7.78e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219402
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227683
AA Change: T865A
PolyPhen 2
Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
97% (71/73) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017N19Rik |
T |
A |
10: 100,448,691 (GRCm39) |
Y335* |
probably null |
Het |
Alpk1 |
A |
T |
3: 127,466,143 (GRCm39) |
L1121Q |
probably damaging |
Het |
Alpk1 |
A |
G |
3: 127,489,382 (GRCm39) |
I99T |
probably damaging |
Het |
Ap2a2 |
T |
A |
7: 141,206,049 (GRCm39) |
F717I |
probably damaging |
Het |
Arhgap33 |
C |
T |
7: 30,222,477 (GRCm39) |
D1152N |
probably benign |
Het |
Arvcf |
A |
G |
16: 18,220,350 (GRCm39) |
D642G |
probably benign |
Het |
Astn1 |
T |
G |
1: 158,329,919 (GRCm39) |
M258R |
probably damaging |
Het |
Brinp3 |
C |
G |
1: 146,777,748 (GRCm39) |
L732V |
possibly damaging |
Het |
Carmil1 |
T |
C |
13: 24,282,793 (GRCm39) |
D547G |
possibly damaging |
Het |
Ccdc177 |
A |
G |
12: 80,805,792 (GRCm39) |
F161L |
possibly damaging |
Het |
Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
Cnot10 |
A |
G |
9: 114,454,971 (GRCm39) |
Y221H |
probably damaging |
Het |
Col6a3 |
T |
A |
1: 90,755,855 (GRCm39) |
I145F |
probably damaging |
Het |
Cyp4f37 |
A |
G |
17: 32,848,818 (GRCm39) |
S229G |
possibly damaging |
Het |
Ddx56 |
G |
A |
11: 6,211,720 (GRCm39) |
T462I |
probably damaging |
Het |
Dhx30 |
T |
C |
9: 109,921,966 (GRCm39) |
M239V |
probably benign |
Het |
Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
Ephb6 |
A |
G |
6: 41,597,173 (GRCm39) |
K994E |
probably damaging |
Het |
Fam83a |
A |
C |
15: 57,849,821 (GRCm39) |
T122P |
probably benign |
Het |
Fbxo24 |
C |
A |
5: 137,617,885 (GRCm39) |
C293F |
possibly damaging |
Het |
Fech |
A |
T |
18: 64,591,255 (GRCm39) |
S390T |
probably benign |
Het |
Fras1 |
A |
G |
5: 96,762,748 (GRCm39) |
H750R |
probably benign |
Het |
Frmpd2 |
A |
G |
14: 33,293,926 (GRCm39) |
D1364G |
probably benign |
Het |
Ganab |
T |
C |
19: 8,889,892 (GRCm39) |
I652T |
probably benign |
Het |
Gm21103 |
T |
A |
14: 17,482,943 (GRCm39) |
T153S |
probably benign |
Het |
Gm21886 |
GGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGTTAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAG |
GGGCCTGCAGACAGTAGGTACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAG |
18: 80,132,967 (GRCm39) |
|
probably benign |
Het |
Gm5799 |
A |
G |
14: 43,781,995 (GRCm39) |
I56V |
possibly damaging |
Het |
Gm7276 |
T |
C |
18: 77,273,183 (GRCm39) |
R184G |
unknown |
Het |
Gmip |
T |
G |
8: 70,273,149 (GRCm39) |
D845E |
probably benign |
Het |
Hspa9 |
T |
C |
18: 35,082,082 (GRCm39) |
K175E |
probably damaging |
Het |
Ipo13 |
A |
G |
4: 117,752,068 (GRCm39) |
F890L |
probably benign |
Het |
Irag1 |
A |
T |
7: 110,522,963 (GRCm39) |
V160D |
probably benign |
Het |
Klrb1f |
C |
T |
6: 129,033,308 (GRCm39) |
R179* |
probably null |
Het |
Nasp |
A |
G |
4: 116,467,785 (GRCm39) |
V400A |
possibly damaging |
Het |
Ncoa7 |
T |
A |
10: 30,598,847 (GRCm39) |
K25N |
possibly damaging |
Het |
Ndrg1 |
A |
C |
15: 66,832,382 (GRCm39) |
M1R |
probably null |
Het |
Nf1 |
G |
A |
11: 79,364,240 (GRCm39) |
A1557T |
probably damaging |
Het |
Nrde2 |
G |
A |
12: 100,108,509 (GRCm39) |
Q361* |
probably null |
Het |
Opn1sw |
A |
T |
6: 29,379,856 (GRCm39) |
L126Q |
probably damaging |
Het |
Or10ak16 |
A |
T |
4: 118,750,327 (GRCm39) |
I16F |
possibly damaging |
Het |
Or1af1 |
C |
T |
2: 37,109,774 (GRCm39) |
T91I |
possibly damaging |
Het |
Or1j4 |
T |
C |
2: 36,740,478 (GRCm39) |
L140P |
probably benign |
Het |
Or5au1 |
A |
T |
14: 52,273,310 (GRCm39) |
L86* |
probably null |
Het |
Or7g17 |
A |
T |
9: 18,768,085 (GRCm39) |
I46F |
possibly damaging |
Het |
Or8g50 |
T |
C |
9: 39,648,422 (GRCm39) |
F104L |
probably benign |
Het |
Osmr |
A |
G |
15: 6,853,048 (GRCm39) |
Y616H |
probably damaging |
Het |
Pagr1a |
T |
C |
7: 126,615,736 (GRCm39) |
T120A |
probably benign |
Het |
Patj |
A |
G |
4: 98,299,376 (GRCm39) |
E166G |
probably damaging |
Het |
Plk4 |
G |
A |
3: 40,766,613 (GRCm39) |
V764I |
probably benign |
Het |
Polr3h |
G |
A |
15: 81,800,602 (GRCm39) |
|
probably null |
Het |
Ptprb |
T |
A |
10: 116,177,043 (GRCm39) |
D989E |
probably benign |
Het |
Sdk2 |
A |
T |
11: 113,758,909 (GRCm39) |
|
probably null |
Het |
Setd1b |
C |
A |
5: 123,290,639 (GRCm39) |
R869S |
unknown |
Het |
Sgcz |
T |
C |
8: 37,990,565 (GRCm39) |
I263V |
probably benign |
Het |
Skint8 |
G |
A |
4: 111,785,758 (GRCm39) |
G68D |
probably benign |
Het |
Slc22a7 |
A |
T |
17: 46,745,553 (GRCm39) |
V326E |
probably benign |
Het |
Slc39a1 |
T |
G |
3: 90,156,396 (GRCm39) |
L38R |
probably damaging |
Het |
Slc4a4 |
A |
G |
5: 89,362,506 (GRCm39) |
|
probably null |
Het |
Sptlc3 |
A |
G |
2: 139,431,537 (GRCm39) |
E353G |
possibly damaging |
Het |
Ssh2 |
G |
T |
11: 77,340,934 (GRCm39) |
L695F |
probably damaging |
Het |
Tacr2 |
C |
A |
10: 62,097,427 (GRCm39) |
Y302* |
probably null |
Het |
Tas2r117 |
T |
C |
6: 132,780,192 (GRCm39) |
L110P |
probably damaging |
Het |
Tex9 |
A |
T |
9: 72,394,060 (GRCm39) |
|
probably null |
Het |
Tmem17 |
A |
T |
11: 22,468,645 (GRCm39) |
T195S |
probably benign |
Het |
Trcg1 |
T |
A |
9: 57,148,766 (GRCm39) |
S113T |
probably benign |
Het |
Trpa1 |
A |
T |
1: 14,954,422 (GRCm39) |
F826I |
probably benign |
Het |
Usp17lc |
A |
G |
7: 103,067,575 (GRCm39) |
Y290C |
probably damaging |
Het |
Vmn2r32 |
T |
A |
7: 7,477,212 (GRCm39) |
D393V |
possibly damaging |
Het |
Wdfy4 |
A |
G |
14: 32,871,541 (GRCm39) |
L290P |
|
Het |
Xpnpep1 |
G |
C |
19: 52,994,722 (GRCm39) |
A302G |
probably benign |
Het |
Xrn2 |
T |
C |
2: 146,891,266 (GRCm39) |
L692P |
probably damaging |
Het |
Zgrf1 |
A |
G |
3: 127,356,720 (GRCm39) |
S649G |
probably benign |
Het |
Zscan4b |
C |
T |
7: 10,634,791 (GRCm39) |
C484Y |
probably damaging |
Het |
Zscan4b |
T |
C |
7: 10,635,820 (GRCm39) |
D169G |
probably benign |
Het |
|
Other mutations in Crybg2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01083:Crybg2
|
APN |
4 |
133,802,755 (GRCm39) |
missense |
possibly damaging |
0.57 |
IGL01147:Crybg2
|
APN |
4 |
133,816,575 (GRCm39) |
splice site |
probably null |
|
IGL02003:Crybg2
|
APN |
4 |
133,799,767 (GRCm39) |
missense |
probably benign |
|
IGL02468:Crybg2
|
APN |
4 |
133,809,898 (GRCm39) |
missense |
probably damaging |
1.00 |
R0089:Crybg2
|
UTSW |
4 |
133,808,505 (GRCm39) |
missense |
probably damaging |
1.00 |
R0414:Crybg2
|
UTSW |
4 |
133,799,947 (GRCm39) |
small deletion |
probably benign |
|
R0579:Crybg2
|
UTSW |
4 |
133,800,049 (GRCm39) |
missense |
probably damaging |
0.97 |
R0634:Crybg2
|
UTSW |
4 |
133,802,615 (GRCm39) |
splice site |
probably benign |
|
R0638:Crybg2
|
UTSW |
4 |
133,801,765 (GRCm39) |
missense |
probably damaging |
1.00 |
R0686:Crybg2
|
UTSW |
4 |
133,801,837 (GRCm39) |
small deletion |
probably benign |
|
R1583:Crybg2
|
UTSW |
4 |
133,808,770 (GRCm39) |
missense |
probably damaging |
1.00 |
R1651:Crybg2
|
UTSW |
4 |
133,802,214 (GRCm39) |
missense |
probably benign |
0.07 |
R1651:Crybg2
|
UTSW |
4 |
133,802,136 (GRCm39) |
missense |
possibly damaging |
0.84 |
R1752:Crybg2
|
UTSW |
4 |
133,800,961 (GRCm39) |
missense |
probably damaging |
0.96 |
R1883:Crybg2
|
UTSW |
4 |
133,801,594 (GRCm39) |
nonsense |
probably null |
|
R1903:Crybg2
|
UTSW |
4 |
133,806,167 (GRCm39) |
missense |
probably damaging |
1.00 |
R2042:Crybg2
|
UTSW |
4 |
133,814,844 (GRCm39) |
missense |
possibly damaging |
0.89 |
R2081:Crybg2
|
UTSW |
4 |
133,816,131 (GRCm39) |
missense |
possibly damaging |
0.82 |
R2229:Crybg2
|
UTSW |
4 |
133,801,837 (GRCm39) |
small deletion |
probably benign |
|
R2321:Crybg2
|
UTSW |
4 |
133,801,822 (GRCm39) |
missense |
probably benign |
0.38 |
R2392:Crybg2
|
UTSW |
4 |
133,799,925 (GRCm39) |
missense |
probably benign |
0.01 |
R2939:Crybg2
|
UTSW |
4 |
133,809,745 (GRCm39) |
missense |
possibly damaging |
0.46 |
R2940:Crybg2
|
UTSW |
4 |
133,809,745 (GRCm39) |
missense |
possibly damaging |
0.46 |
R3028:Crybg2
|
UTSW |
4 |
133,801,095 (GRCm39) |
missense |
probably benign |
0.19 |
R4458:Crybg2
|
UTSW |
4 |
133,802,205 (GRCm39) |
missense |
probably benign |
0.32 |
R4487:Crybg2
|
UTSW |
4 |
133,801,512 (GRCm39) |
missense |
probably benign |
0.00 |
R4680:Crybg2
|
UTSW |
4 |
133,800,029 (GRCm39) |
frame shift |
probably null |
|
R4681:Crybg2
|
UTSW |
4 |
133,800,029 (GRCm39) |
frame shift |
probably null |
|
R4682:Crybg2
|
UTSW |
4 |
133,800,029 (GRCm39) |
frame shift |
probably null |
|
R4766:Crybg2
|
UTSW |
4 |
133,816,663 (GRCm39) |
missense |
probably damaging |
1.00 |
R5079:Crybg2
|
UTSW |
4 |
133,801,564 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5291:Crybg2
|
UTSW |
4 |
133,800,738 (GRCm39) |
missense |
probably benign |
0.00 |
R5453:Crybg2
|
UTSW |
4 |
133,806,147 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5711:Crybg2
|
UTSW |
4 |
133,809,938 (GRCm39) |
missense |
probably damaging |
0.97 |
R5834:Crybg2
|
UTSW |
4 |
133,801,434 (GRCm39) |
missense |
probably benign |
0.12 |
R5969:Crybg2
|
UTSW |
4 |
133,803,003 (GRCm39) |
splice site |
probably null |
|
R5976:Crybg2
|
UTSW |
4 |
133,801,837 (GRCm39) |
small deletion |
probably benign |
|
R6022:Crybg2
|
UTSW |
4 |
133,801,584 (GRCm39) |
nonsense |
probably null |
|
R6046:Crybg2
|
UTSW |
4 |
133,819,388 (GRCm39) |
missense |
probably damaging |
1.00 |
R6088:Crybg2
|
UTSW |
4 |
133,803,101 (GRCm39) |
splice site |
probably null |
|
R6196:Crybg2
|
UTSW |
4 |
133,808,450 (GRCm39) |
missense |
probably damaging |
0.99 |
R6246:Crybg2
|
UTSW |
4 |
133,816,657 (GRCm39) |
missense |
probably damaging |
0.96 |
R6303:Crybg2
|
UTSW |
4 |
133,814,898 (GRCm39) |
missense |
possibly damaging |
0.66 |
R6320:Crybg2
|
UTSW |
4 |
133,808,737 (GRCm39) |
missense |
probably damaging |
1.00 |
R6354:Crybg2
|
UTSW |
4 |
133,818,447 (GRCm39) |
missense |
probably benign |
0.39 |
R6737:Crybg2
|
UTSW |
4 |
133,800,001 (GRCm39) |
missense |
probably damaging |
0.99 |
R6744:Crybg2
|
UTSW |
4 |
133,816,207 (GRCm39) |
missense |
probably damaging |
1.00 |
R6847:Crybg2
|
UTSW |
4 |
133,792,857 (GRCm39) |
missense |
probably benign |
0.40 |
R6891:Crybg2
|
UTSW |
4 |
133,809,148 (GRCm39) |
missense |
probably benign |
0.32 |
R7043:Crybg2
|
UTSW |
4 |
133,818,447 (GRCm39) |
missense |
probably benign |
0.39 |
R7133:Crybg2
|
UTSW |
4 |
133,792,754 (GRCm39) |
missense |
probably benign |
0.09 |
R7166:Crybg2
|
UTSW |
4 |
133,788,193 (GRCm39) |
missense |
probably damaging |
0.96 |
R7711:Crybg2
|
UTSW |
4 |
133,792,844 (GRCm39) |
missense |
probably benign |
0.00 |
R7745:Crybg2
|
UTSW |
4 |
133,816,156 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7782:Crybg2
|
UTSW |
4 |
133,801,137 (GRCm39) |
missense |
probably benign |
0.00 |
R7871:Crybg2
|
UTSW |
4 |
133,814,910 (GRCm39) |
missense |
probably damaging |
1.00 |
R7943:Crybg2
|
UTSW |
4 |
133,800,295 (GRCm39) |
missense |
probably damaging |
0.97 |
R8008:Crybg2
|
UTSW |
4 |
133,818,415 (GRCm39) |
missense |
probably damaging |
1.00 |
R8017:Crybg2
|
UTSW |
4 |
133,800,484 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8292:Crybg2
|
UTSW |
4 |
133,802,842 (GRCm39) |
missense |
probably damaging |
1.00 |
R8391:Crybg2
|
UTSW |
4 |
133,803,035 (GRCm39) |
missense |
probably damaging |
0.97 |
R8510:Crybg2
|
UTSW |
4 |
133,800,670 (GRCm39) |
missense |
probably benign |
|
R8535:Crybg2
|
UTSW |
4 |
133,808,514 (GRCm39) |
missense |
probably damaging |
1.00 |
R8695:Crybg2
|
UTSW |
4 |
133,792,766 (GRCm39) |
missense |
possibly damaging |
0.55 |
R8789:Crybg2
|
UTSW |
4 |
133,801,554 (GRCm39) |
missense |
probably benign |
0.00 |
R8870:Crybg2
|
UTSW |
4 |
133,818,525 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9052:Crybg2
|
UTSW |
4 |
133,803,035 (GRCm39) |
missense |
probably damaging |
0.97 |
R9071:Crybg2
|
UTSW |
4 |
133,818,542 (GRCm39) |
missense |
probably damaging |
1.00 |
R9088:Crybg2
|
UTSW |
4 |
133,799,890 (GRCm39) |
missense |
probably damaging |
0.99 |
R9154:Crybg2
|
UTSW |
4 |
133,792,620 (GRCm39) |
missense |
probably benign |
0.02 |
R9440:Crybg2
|
UTSW |
4 |
133,801,602 (GRCm39) |
missense |
probably benign |
0.00 |
R9540:Crybg2
|
UTSW |
4 |
133,816,225 (GRCm39) |
missense |
probably damaging |
0.98 |
R9606:Crybg2
|
UTSW |
4 |
133,801,383 (GRCm39) |
nonsense |
probably null |
|
R9641:Crybg2
|
UTSW |
4 |
133,816,620 (GRCm39) |
nonsense |
probably null |
|
R9719:Crybg2
|
UTSW |
4 |
133,793,148 (GRCm39) |
missense |
probably benign |
0.01 |
R9734:Crybg2
|
UTSW |
4 |
133,801,962 (GRCm39) |
missense |
probably benign |
0.00 |
X0064:Crybg2
|
UTSW |
4 |
133,816,587 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1176:Crybg2
|
UTSW |
4 |
133,809,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CACGGTTGTTCAGAATGCAG -3'
(R):5'- ATCTCCAGGTCTGCAGTCAAG -3'
Sequencing Primer
(F):5'- TTGTTCAGAATGCAGAAGGAGGTC -3'
(R):5'- AGTCAAGGCTGCTTCGTC -3'
|
Posted On |
2019-10-07 |