Incidental Mutation 'R1568:Cblb'
| ID |
175450 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cblb
|
| Ensembl Gene |
ENSMUSG00000022637 |
| Gene Name |
Casitas B-lineage lymphoma b |
| Synonyms |
Cbl-b |
| MMRRC Submission |
039607-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.208)
|
| Stock # |
R1568 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
51851593-52028410 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 51956192 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 265
(T265M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153787
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114471]
[ENSMUST00000226593]
[ENSMUST00000227062]
[ENSMUST00000227756]
[ENSMUST00000227879]
|
| AlphaFold |
Q3TTA7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114471
AA Change: T265M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110115
Gene: ENSMUSG00000022637
AA Change: T265M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
21 |
N/A |
INTRINSIC |
|
Pfam:Cbl_N
|
41 |
167 |
1.5e-58 |
PFAM |
|
Pfam:Cbl_N2
|
171 |
254 |
2.9e-43 |
PFAM |
|
SH2
|
257 |
354 |
3.22e0 |
SMART |
|
RING
|
373 |
411 |
1.04e-7 |
SMART |
|
low complexity region
|
447 |
454 |
N/A |
INTRINSIC |
|
low complexity region
|
543 |
567 |
N/A |
INTRINSIC |
|
low complexity region
|
666 |
682 |
N/A |
INTRINSIC |
|
low complexity region
|
773 |
783 |
N/A |
INTRINSIC |
|
low complexity region
|
792 |
804 |
N/A |
INTRINSIC |
|
low complexity region
|
857 |
871 |
N/A |
INTRINSIC |
|
UBA
|
888 |
925 |
4.06e-6 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000226593
AA Change: T265M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227062
AA Change: T265M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227756
AA Change: T113M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227879
AA Change: T265M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 90.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygotes for targeted null mutations exhibit elevated IL2 production by T cells, develop spontaneous autoimmunity, and are highly susceptible to experimental autoimmune encephalomyelitis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam18 |
T |
G |
8: 25,137,799 (GRCm39) |
|
probably null |
Het |
| Adgb |
A |
T |
10: 10,318,409 (GRCm39) |
Y138* |
probably null |
Het |
| Adra1d |
T |
C |
2: 131,388,092 (GRCm39) |
R488G |
possibly damaging |
Het |
| Ahnak |
G |
A |
19: 8,979,739 (GRCm39) |
G341E |
probably damaging |
Het |
| Ankmy1 |
T |
C |
1: 92,808,838 (GRCm39) |
D690G |
probably damaging |
Het |
| Arhgef38 |
C |
T |
3: 132,838,225 (GRCm39) |
E21K |
probably damaging |
Het |
| Atp8b2 |
T |
C |
3: 89,857,155 (GRCm39) |
M402V |
probably damaging |
Het |
| Atp8b4 |
G |
T |
2: 126,167,314 (GRCm39) |
H1062N |
probably benign |
Het |
| Bdnf |
A |
G |
2: 109,554,139 (GRCm39) |
H131R |
probably damaging |
Het |
| Cenpe |
T |
A |
3: 134,945,519 (GRCm39) |
M1011K |
probably benign |
Het |
| Clca3a2 |
A |
T |
3: 144,781,410 (GRCm39) |
Y711* |
probably null |
Het |
| Clca4a |
A |
G |
3: 144,658,690 (GRCm39) |
Y842H |
probably benign |
Het |
| Clspn |
T |
A |
4: 126,475,310 (GRCm39) |
M1021K |
probably benign |
Het |
| Cpne8 |
G |
T |
15: 90,503,845 (GRCm39) |
R107S |
probably damaging |
Het |
| D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
| Dna2 |
C |
T |
10: 62,784,966 (GRCm39) |
R28W |
probably benign |
Het |
| Dnah5 |
T |
A |
15: 28,409,323 (GRCm39) |
N3580K |
probably damaging |
Het |
| Dsp |
T |
C |
13: 38,359,123 (GRCm39) |
I298T |
probably damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,157,553 (GRCm39) |
K858R |
probably null |
Het |
| Fasn |
A |
T |
11: 120,704,075 (GRCm39) |
V1448E |
possibly damaging |
Het |
| Ghdc |
A |
G |
11: 100,659,331 (GRCm39) |
I322T |
probably benign |
Het |
| Gins2 |
T |
C |
8: 121,308,939 (GRCm39) |
D105G |
probably damaging |
Het |
| Insr |
A |
T |
8: 3,215,576 (GRCm39) |
D975E |
probably benign |
Het |
| Klrc3 |
T |
C |
6: 129,616,510 (GRCm39) |
D169G |
probably benign |
Het |
| Krt76 |
T |
A |
15: 101,793,443 (GRCm39) |
S532C |
unknown |
Het |
| Lamp3 |
A |
T |
16: 19,492,275 (GRCm39) |
M323K |
probably damaging |
Het |
| Lgmn |
T |
C |
12: 102,360,868 (GRCm39) |
I423M |
possibly damaging |
Het |
| Lpgat1 |
A |
T |
1: 191,508,538 (GRCm39) |
T359S |
possibly damaging |
Het |
| Lrguk |
T |
A |
6: 34,063,373 (GRCm39) |
I466N |
probably damaging |
Het |
| Magi3 |
A |
C |
3: 103,996,843 (GRCm39) |
M234R |
probably benign |
Het |
| Myh14 |
G |
A |
7: 44,261,122 (GRCm39) |
R1042* |
probably null |
Het |
| Nfia |
T |
G |
4: 97,999,461 (GRCm39) |
Y378D |
possibly damaging |
Het |
| Npffr1 |
T |
A |
10: 61,462,012 (GRCm39) |
S383T |
possibly damaging |
Het |
| Or4f57 |
C |
A |
2: 111,790,585 (GRCm39) |
V278F |
probably benign |
Het |
| Or52n4 |
T |
A |
7: 104,293,977 (GRCm39) |
I199F |
probably benign |
Het |
| Or5b112 |
C |
A |
19: 13,319,539 (GRCm39) |
P139Q |
probably benign |
Het |
| Or9s14 |
T |
C |
1: 92,535,676 (GRCm39) |
L39P |
probably damaging |
Het |
| Osr1 |
G |
A |
12: 9,629,798 (GRCm39) |
|
probably null |
Het |
| Pde4b |
A |
C |
4: 102,454,896 (GRCm39) |
R375S |
probably damaging |
Het |
| Pde8a |
A |
G |
7: 80,942,011 (GRCm39) |
E150G |
probably damaging |
Het |
| Pkhd1l1 |
A |
T |
15: 44,408,897 (GRCm39) |
|
probably null |
Het |
| Ppp3ca |
A |
G |
3: 136,634,305 (GRCm39) |
T422A |
probably benign |
Het |
| Proser1 |
T |
C |
3: 53,385,180 (GRCm39) |
V354A |
possibly damaging |
Het |
| Rgs20 |
G |
T |
1: 5,091,050 (GRCm39) |
R127S |
probably benign |
Het |
| Sanbr |
T |
C |
11: 23,539,971 (GRCm39) |
K48E |
probably damaging |
Het |
| Sec22a |
T |
C |
16: 35,167,998 (GRCm39) |
D171G |
probably benign |
Het |
| Secisbp2 |
A |
G |
13: 51,827,143 (GRCm39) |
E417G |
possibly damaging |
Het |
| Serpinb6b |
T |
C |
13: 33,158,895 (GRCm39) |
L32S |
probably damaging |
Het |
| Sf3b1 |
C |
G |
1: 55,058,554 (GRCm39) |
E12Q |
possibly damaging |
Het |
| Slc39a10 |
A |
T |
1: 46,865,375 (GRCm39) |
S487T |
probably benign |
Het |
| Slc6a1 |
G |
T |
6: 114,284,731 (GRCm39) |
G263V |
probably damaging |
Het |
| Spag6 |
A |
G |
2: 18,737,925 (GRCm39) |
D265G |
probably benign |
Het |
| Spata31e2 |
T |
C |
1: 26,724,950 (GRCm39) |
T77A |
probably benign |
Het |
| Sybu |
G |
T |
15: 44,582,228 (GRCm39) |
S132* |
probably null |
Het |
| Virma |
T |
C |
4: 11,528,776 (GRCm39) |
S1288P |
probably damaging |
Het |
| Vmn1r229 |
T |
A |
17: 21,035,067 (GRCm39) |
V104D |
probably damaging |
Het |
| Vmn1r238 |
T |
C |
18: 3,123,358 (GRCm39) |
T19A |
probably benign |
Het |
| Vmn2r86 |
C |
T |
10: 130,289,010 (GRCm39) |
V164I |
probably benign |
Het |
| Wfdc13 |
G |
T |
2: 164,528,854 (GRCm39) |
A64S |
probably damaging |
Het |
| Zfp873 |
C |
A |
10: 81,896,113 (GRCm39) |
H318Q |
probably damaging |
Het |
| Zyg11a |
A |
G |
4: 108,040,843 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Cblb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00157:Cblb
|
APN |
16 |
52,003,670 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL00927:Cblb
|
APN |
16 |
51,986,461 (GRCm39) |
missense |
probably benign |
|
|
IGL01108:Cblb
|
APN |
16 |
51,867,814 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01336:Cblb
|
APN |
16 |
52,006,592 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01943:Cblb
|
APN |
16 |
51,959,996 (GRCm39) |
splice site |
probably null |
|
|
IGL02273:Cblb
|
APN |
16 |
51,867,657 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02405:Cblb
|
APN |
16 |
51,986,616 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL02445:Cblb
|
APN |
16 |
51,986,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02728:Cblb
|
APN |
16 |
52,003,672 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03000:Cblb
|
APN |
16 |
52,024,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4362001:Cblb
|
UTSW |
16 |
51,959,905 (GRCm39) |
nonsense |
probably null |
|
|
R0053:Cblb
|
UTSW |
16 |
51,963,164 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0053:Cblb
|
UTSW |
16 |
51,963,164 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0294:Cblb
|
UTSW |
16 |
51,956,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0403:Cblb
|
UTSW |
16 |
51,972,989 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0506:Cblb
|
UTSW |
16 |
52,024,843 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1172:Cblb
|
UTSW |
16 |
52,006,603 (GRCm39) |
splice site |
probably benign |
|
|
R1245:Cblb
|
UTSW |
16 |
51,867,550 (GRCm39) |
splice site |
probably benign |
|
|
R1443:Cblb
|
UTSW |
16 |
51,959,974 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1549:Cblb
|
UTSW |
16 |
51,853,373 (GRCm39) |
splice site |
probably benign |
|
|
R1734:Cblb
|
UTSW |
16 |
52,006,603 (GRCm39) |
splice site |
probably benign |
|
|
R2107:Cblb
|
UTSW |
16 |
51,973,079 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2231:Cblb
|
UTSW |
16 |
52,014,635 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4419:Cblb
|
UTSW |
16 |
51,867,621 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4913:Cblb
|
UTSW |
16 |
51,986,392 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4940:Cblb
|
UTSW |
16 |
51,853,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5159:Cblb
|
UTSW |
16 |
51,932,483 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5318:Cblb
|
UTSW |
16 |
52,006,561 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5367:Cblb
|
UTSW |
16 |
52,025,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5432:Cblb
|
UTSW |
16 |
51,963,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5490:Cblb
|
UTSW |
16 |
51,994,733 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R5618:Cblb
|
UTSW |
16 |
51,973,031 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6047:Cblb
|
UTSW |
16 |
51,932,611 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6152:Cblb
|
UTSW |
16 |
51,961,419 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6667:Cblb
|
UTSW |
16 |
51,973,007 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6914:Cblb
|
UTSW |
16 |
51,867,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7681:Cblb
|
UTSW |
16 |
52,025,001 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7940:Cblb
|
UTSW |
16 |
51,972,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8167:Cblb
|
UTSW |
16 |
51,986,365 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8236:Cblb
|
UTSW |
16 |
51,986,392 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8494:Cblb
|
UTSW |
16 |
52,025,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8880:Cblb
|
UTSW |
16 |
51,986,368 (GRCm39) |
missense |
probably benign |
|
|
R9308:Cblb
|
UTSW |
16 |
52,009,374 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9386:Cblb
|
UTSW |
16 |
51,986,701 (GRCm39) |
nonsense |
probably null |
|
|
R9387:Cblb
|
UTSW |
16 |
51,853,515 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9500:Cblb
|
UTSW |
16 |
51,959,993 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9741:Cblb
|
UTSW |
16 |
51,932,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0011:Cblb
|
UTSW |
16 |
51,972,992 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCATTGGGGCTACACCAAGAAAAG -3'
(R):5'- GAGCAGGAACACTGTGTACCCAAC -3'
Sequencing Primer
(F):5'- GATCACAAATTCTCTATTGGCTGTC -3'
(R):5'- GGGCTCAATTAATATGCACCCTC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation