Incidental Mutation 'IGL01108:Cblb'
ID |
52930 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cblb
|
Ensembl Gene |
ENSMUSG00000022637 |
Gene Name |
Casitas B-lineage lymphoma b |
Synonyms |
Cbl-b |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.208)
|
Stock # |
IGL01108
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
51851593-52028410 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to A
at 51867814 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153787
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114471]
[ENSMUST00000226593]
[ENSMUST00000227062]
[ENSMUST00000227756]
[ENSMUST00000227879]
|
AlphaFold |
Q3TTA7 |
Predicted Effect |
probably null
Transcript: ENSMUST00000114471
|
SMART Domains |
Protein: ENSMUSP00000110115 Gene: ENSMUSG00000022637
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 |
noncoding transcript
Transcript: ENSMUST00000226253
|
Predicted Effect |
probably null
Transcript: ENSMUST00000226593
|
Predicted Effect |
probably null
Transcript: ENSMUST00000227062
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227756
|
Predicted Effect |
probably null
Transcript: ENSMUST00000227879
|
Coding Region Coverage |
|
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Asah2 |
A |
G |
19: 31,986,081 (GRCm39) |
|
probably benign |
Het |
Baz1a |
A |
G |
12: 54,963,516 (GRCm39) |
I856T |
probably benign |
Het |
Cpq |
A |
G |
15: 33,497,433 (GRCm39) |
Q391R |
probably benign |
Het |
Dnah9 |
T |
A |
11: 65,740,806 (GRCm39) |
T4127S |
possibly damaging |
Het |
Dync2h1 |
A |
G |
9: 7,176,771 (GRCm39) |
S63P |
possibly damaging |
Het |
Ercc3 |
T |
C |
18: 32,397,638 (GRCm39) |
V623A |
probably damaging |
Het |
Fbxw9 |
A |
G |
8: 85,792,606 (GRCm39) |
|
probably benign |
Het |
Gorasp2 |
T |
A |
2: 70,508,922 (GRCm39) |
S133R |
probably damaging |
Het |
Gtf2h1 |
G |
A |
7: 46,461,922 (GRCm39) |
A307T |
probably damaging |
Het |
Hk1 |
T |
C |
10: 62,132,487 (GRCm39) |
K186R |
probably benign |
Het |
Itga11 |
A |
G |
9: 62,664,903 (GRCm39) |
E596G |
probably benign |
Het |
Kcnj13 |
T |
C |
1: 87,314,659 (GRCm39) |
I188V |
probably benign |
Het |
Klhl18 |
A |
T |
9: 110,257,754 (GRCm39) |
M492K |
probably damaging |
Het |
Mctp2 |
T |
C |
7: 71,835,563 (GRCm39) |
T545A |
probably damaging |
Het |
Mgrn1 |
G |
T |
16: 4,734,019 (GRCm39) |
|
probably null |
Het |
Mideas |
T |
C |
12: 84,220,465 (GRCm39) |
E163G |
probably damaging |
Het |
Olfm4 |
T |
C |
14: 80,259,339 (GRCm39) |
V529A |
probably benign |
Het |
Or13f5 |
C |
T |
4: 52,825,727 (GRCm39) |
T110I |
probably damaging |
Het |
Parp4 |
T |
G |
14: 56,844,897 (GRCm39) |
I596S |
probably benign |
Het |
Plppr3 |
T |
A |
10: 79,703,355 (GRCm39) |
D43V |
probably damaging |
Het |
Prss51 |
A |
T |
14: 64,333,433 (GRCm39) |
K14I |
probably damaging |
Het |
Prss58 |
A |
G |
6: 40,874,278 (GRCm39) |
C133R |
probably damaging |
Het |
Recql5 |
A |
T |
11: 115,788,007 (GRCm39) |
N437K |
probably benign |
Het |
Samd10 |
A |
G |
2: 181,239,007 (GRCm39) |
Y135H |
probably damaging |
Het |
Scnn1b |
G |
T |
7: 121,513,555 (GRCm39) |
|
probably null |
Het |
Serpina7 |
C |
T |
X: 137,983,886 (GRCm39) |
V58I |
probably benign |
Het |
Slf1 |
A |
T |
13: 77,273,594 (GRCm39) |
|
probably benign |
Het |
Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
Urb1 |
C |
T |
16: 90,589,702 (GRCm39) |
A360T |
probably damaging |
Het |
Ush2a |
G |
T |
1: 188,595,022 (GRCm39) |
R3818L |
probably benign |
Het |
Vmn2r57 |
C |
T |
7: 41,077,008 (GRCm39) |
R386K |
probably benign |
Het |
Wnt3a |
T |
C |
11: 59,147,135 (GRCm39) |
N184D |
probably benign |
Het |
Xpc |
G |
A |
6: 91,469,987 (GRCm39) |
R746W |
probably damaging |
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 |
|
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 |
|
R1568:Cblb
|
UTSW |
16 |
51,956,192 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
Posted On |
2013-06-21 |