Incidental Mutation 'R9606:Crybg2'
| ID |
723863 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crybg2
|
| Ensembl Gene |
ENSMUSG00000012123 |
| Gene Name |
crystallin beta-gamma domain containing 2 |
| Synonyms |
Aim1l |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.876)
|
| Stock # |
R9606 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
133788126-133819815 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 133801383 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 539
(K539*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114099
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000121391]
[ENSMUST00000137053]
[ENSMUST00000149956]
[ENSMUST00000219402]
[ENSMUST00000227683]
|
| AlphaFold |
A0A2I3BQG2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000121391
AA Change: K539*
|
| SMART Domains |
Protein: ENSMUSP00000114099
Gene: ENSMUSG00000012123
AA Change: K539*
| 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 |
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 null
Transcript: ENSMUST00000227683
AA Change: K848*
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430548M08Rik |
A |
G |
8: 120,880,706 (GRCm39) |
Y286C |
probably damaging |
Het |
| Cacna1c |
T |
C |
6: 118,587,455 (GRCm39) |
T1657A |
|
Het |
| Ccs |
A |
T |
19: 4,882,897 (GRCm39) |
D151E |
probably benign |
Het |
| Cfap74 |
A |
G |
4: 155,509,133 (GRCm39) |
T295A |
|
Het |
| Chmp4c |
A |
T |
3: 10,432,222 (GRCm39) |
E44V |
probably damaging |
Het |
| Dgkg |
T |
C |
16: 22,441,011 (GRCm39) |
M1V |
probably null |
Het |
| E2f2 |
T |
A |
4: 135,911,743 (GRCm39) |
Y251* |
probably null |
Het |
| Fat2 |
T |
C |
11: 55,180,093 (GRCm39) |
Y1416C |
probably damaging |
Het |
| Fgl2 |
T |
C |
5: 21,577,991 (GRCm39) |
S93P |
possibly damaging |
Het |
| Hivep3 |
C |
T |
4: 119,989,786 (GRCm39) |
T2079I |
probably damaging |
Het |
| Igfl3 |
A |
C |
7: 17,913,920 (GRCm39) |
K90T |
possibly damaging |
Het |
| Lsamp |
A |
G |
16: 41,709,292 (GRCm39) |
D74G |
probably benign |
Het |
| Mmrn2 |
C |
A |
14: 34,119,654 (GRCm39) |
T211K |
possibly damaging |
Het |
| Mov10 |
A |
T |
3: 104,707,664 (GRCm39) |
V570D |
probably benign |
Het |
| Mrc1 |
A |
T |
2: 14,313,517 (GRCm39) |
Y916F |
probably benign |
Het |
| Myo10 |
CAGGTATAAAG |
CAG |
15: 25,776,401 (GRCm39) |
|
probably null |
Het |
| Ndc1 |
T |
A |
4: 107,246,686 (GRCm39) |
C370S |
probably damaging |
Het |
| Nln |
TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC |
TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC |
13: 104,186,924 (GRCm39) |
|
probably null |
Het |
| Nrcam |
A |
T |
12: 44,609,240 (GRCm39) |
N455I |
probably damaging |
Het |
| Nrp1 |
G |
A |
8: 129,229,029 (GRCm39) |
E836K |
probably benign |
Het |
| Or2t29 |
C |
T |
11: 58,433,753 (GRCm39) |
C196Y |
probably damaging |
Het |
| Or5b120 |
A |
T |
19: 13,479,943 (GRCm39) |
K79* |
probably null |
Het |
| Or6c216 |
A |
T |
10: 129,678,625 (GRCm39) |
C95* |
probably null |
Het |
| Or8b1d |
A |
G |
9: 38,558,620 (GRCm39) |
S67P |
probably damaging |
Het |
| Pcca |
T |
C |
14: 122,901,717 (GRCm39) |
S287P |
probably damaging |
Het |
| Pitpnm3 |
T |
A |
11: 71,955,069 (GRCm39) |
T482S |
probably benign |
Het |
| Pld2 |
C |
T |
11: 70,445,893 (GRCm39) |
R676* |
probably null |
Het |
| Ppm1k |
T |
C |
6: 57,491,057 (GRCm39) |
Y286C |
possibly damaging |
Het |
| Rb1 |
T |
C |
14: 73,517,573 (GRCm39) |
N278D |
probably damaging |
Het |
| Sema3g |
T |
C |
14: 30,943,783 (GRCm39) |
L221P |
probably damaging |
Het |
| Skint2 |
C |
T |
4: 112,483,147 (GRCm39) |
T184I |
probably benign |
Het |
| Slc38a2 |
A |
G |
15: 96,591,172 (GRCm39) |
F232S |
probably damaging |
Het |
| Snx6 |
T |
C |
12: 54,814,811 (GRCm39) |
N170S |
probably benign |
Het |
| Sox9 |
T |
A |
11: 112,673,416 (GRCm39) |
N2K |
probably damaging |
Het |
| Sp140l1 |
G |
C |
1: 85,075,344 (GRCm39) |
|
probably null |
Het |
| Srpk2 |
T |
C |
5: 23,729,604 (GRCm39) |
E345G |
probably benign |
Het |
| Tbc1d21 |
T |
C |
9: 58,268,487 (GRCm39) |
M291V |
possibly damaging |
Het |
| Tekt2 |
T |
C |
4: 126,218,693 (GRCm39) |
N20S |
probably benign |
Het |
| Tnxb |
T |
G |
17: 34,914,578 (GRCm39) |
I1888S |
possibly damaging |
Het |
| Tsnaxip1 |
G |
A |
8: 106,566,685 (GRCm39) |
E174K |
probably damaging |
Het |
| Ttc28 |
G |
A |
5: 111,433,140 (GRCm39) |
R2058Q |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
| Ttyh2 |
T |
A |
11: 114,601,667 (GRCm39) |
D430E |
probably benign |
Het |
| Ubr2 |
C |
T |
17: 47,245,020 (GRCm39) |
G1669R |
probably damaging |
Het |
| Vcan |
A |
T |
13: 89,853,491 (GRCm39) |
S490T |
probably damaging |
Het |
| Vmn1r86 |
T |
A |
7: 12,836,741 (GRCm39) |
D45V |
probably damaging |
Het |
| Wdr12 |
A |
G |
1: 60,127,226 (GRCm39) |
V143A |
possibly damaging |
Het |
| Zbtb18 |
T |
A |
1: 177,274,989 (GRCm39) |
Y116* |
probably null |
Het |
| Zdbf2 |
C |
T |
1: 63,342,536 (GRCm39) |
T305I |
possibly damaging |
Het |
| Zfp384 |
T |
A |
6: 125,007,802 (GRCm39) |
M244K |
possibly damaging |
Het |
| Zfp423 |
A |
T |
8: 88,414,595 (GRCm39) |
V1241D |
probably damaging |
Het |
| Zfp574 |
A |
G |
7: 24,780,640 (GRCm39) |
Y554C |
probably damaging |
Het |
| Zfp616 |
T |
C |
11: 73,976,220 (GRCm39) |
S830P |
probably damaging |
Het |
| Zfp839 |
A |
G |
12: 110,834,776 (GRCm39) |
Y677C |
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 |
|
R7412:Crybg2
|
UTSW |
4 |
133,801,434 (GRCm39) |
missense |
probably benign |
0.12 |
|
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 |
|
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'- GGTGCTCCCAAAACTTCATCC -3'
(R):5'- AATCTCCAGGTCTGCAGTCAAG -3'
Sequencing Primer
(F):5'- TGCTCCCAAAACTTCATCCTCCAG -3'
(R):5'- AGTCAAGGCTGCTTCGTC -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation