Incidental Mutation 'IGL03000:Cblb'
ID |
407261 |
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 # |
IGL03000
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
51851593-52028410 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 52024905 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 933
(D933E)
|
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: D889E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000110115 Gene: ENSMUSG00000022637 AA Change: D889E
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: D933E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000227062
AA Change: D889E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000227756
AA Change: D781E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000227879
AA Change: D933E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
T |
C |
1: 71,360,959 (GRCm39) |
S445G |
probably benign |
Het |
Abca5 |
C |
T |
11: 110,208,640 (GRCm39) |
V226I |
probably benign |
Het |
Ankrd34c |
A |
T |
9: 89,611,239 (GRCm39) |
D367E |
probably benign |
Het |
Bmp6 |
G |
T |
13: 38,682,887 (GRCm39) |
|
probably benign |
Het |
Cacna2d2 |
T |
C |
9: 107,401,397 (GRCm39) |
|
probably null |
Het |
Ccny |
A |
G |
18: 9,353,489 (GRCm39) |
S95P |
probably benign |
Het |
Cep192 |
A |
G |
18: 67,985,115 (GRCm39) |
I1658V |
probably damaging |
Het |
Cntn6 |
A |
T |
6: 104,781,347 (GRCm39) |
T478S |
probably damaging |
Het |
Cpne7 |
T |
C |
8: 123,853,435 (GRCm39) |
F247L |
probably benign |
Het |
Csf1r |
A |
G |
18: 61,242,724 (GRCm39) |
E29G |
probably damaging |
Het |
Dctn3 |
T |
A |
4: 41,719,912 (GRCm39) |
I65F |
possibly damaging |
Het |
Dock1 |
A |
G |
7: 134,390,969 (GRCm39) |
E743G |
probably benign |
Het |
Dus2 |
C |
A |
8: 106,775,316 (GRCm39) |
T281N |
probably damaging |
Het |
Gbx1 |
G |
T |
5: 24,709,924 (GRCm39) |
T307K |
probably benign |
Het |
Gtf2ird2 |
A |
T |
5: 134,223,745 (GRCm39) |
N93I |
probably benign |
Het |
Heatr1 |
A |
G |
13: 12,449,292 (GRCm39) |
D1930G |
probably damaging |
Het |
Hif3a |
T |
C |
7: 16,782,564 (GRCm39) |
I334V |
probably benign |
Het |
Ints1 |
G |
T |
5: 139,752,261 (GRCm39) |
N756K |
probably benign |
Het |
Kcnn2 |
T |
C |
18: 45,693,635 (GRCm39) |
F404L |
probably damaging |
Het |
Kmt2c |
G |
A |
5: 25,489,170 (GRCm39) |
R4590W |
probably damaging |
Het |
Limk1 |
A |
T |
5: 134,699,355 (GRCm39) |
V134E |
probably damaging |
Het |
Mep1a |
A |
G |
17: 43,785,881 (GRCm39) |
V736A |
probably benign |
Het |
Mex3a |
T |
A |
3: 88,443,602 (GRCm39) |
I226N |
probably damaging |
Het |
Mgl2 |
A |
T |
11: 70,025,026 (GRCm39) |
K16* |
probably null |
Het |
Mms22l |
G |
T |
4: 24,581,161 (GRCm39) |
V864L |
probably damaging |
Het |
Mroh4 |
T |
A |
15: 74,487,963 (GRCm39) |
M320L |
probably benign |
Het |
Mylk3 |
G |
A |
8: 86,085,806 (GRCm39) |
P243S |
probably damaging |
Het |
Nbea |
A |
C |
3: 55,912,048 (GRCm39) |
D1246E |
possibly damaging |
Het |
Ndnf |
A |
G |
6: 65,680,299 (GRCm39) |
T193A |
possibly damaging |
Het |
Nfasc |
T |
C |
1: 132,549,247 (GRCm39) |
|
probably benign |
Het |
Or6k8-ps1 |
A |
G |
1: 173,979,126 (GRCm39) |
T15A |
probably benign |
Het |
Ptprq |
A |
T |
10: 107,378,518 (GRCm39) |
F2008I |
probably damaging |
Het |
Rhag |
A |
G |
17: 41,139,413 (GRCm39) |
K116R |
probably benign |
Het |
Rictor |
T |
A |
15: 6,798,721 (GRCm39) |
|
probably benign |
Het |
Slc35f5 |
C |
A |
1: 125,502,479 (GRCm39) |
T277N |
probably damaging |
Het |
Sorcs2 |
A |
G |
5: 36,222,675 (GRCm39) |
|
probably benign |
Het |
Ssh2 |
T |
A |
11: 77,312,032 (GRCm39) |
|
probably benign |
Het |
Togaram2 |
T |
C |
17: 72,024,365 (GRCm39) |
S830P |
probably benign |
Het |
Trim30d |
T |
C |
7: 104,122,476 (GRCm39) |
T112A |
probably benign |
Het |
Ttc34 |
T |
C |
4: 154,949,888 (GRCm39) |
V947A |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,642,953 (GRCm39) |
|
probably benign |
Het |
Ubr5 |
A |
T |
15: 38,025,096 (GRCm39) |
V560D |
probably damaging |
Het |
Ush2a |
A |
T |
1: 188,282,053 (GRCm39) |
E1856V |
possibly damaging |
Het |
Zfp142 |
T |
C |
1: 74,612,777 (GRCm39) |
M457V |
probably benign |
Het |
Zfp711 |
C |
T |
X: 111,534,555 (GRCm39) |
Q137* |
probably null |
Het |
Zkscan17 |
T |
C |
11: 59,377,986 (GRCm39) |
Y399C |
probably damaging |
Het |
Zswim6 |
T |
G |
13: 107,863,649 (GRCm39) |
|
noncoding transcript |
Het |
Zswim6 |
T |
A |
13: 107,863,650 (GRCm39) |
|
noncoding transcript |
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 |
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 |
2016-08-02 |