Incidental Mutation 'IGL01943:Cblb'
| ID |
180942 |
| 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: 0.188)
|
| Stock # |
IGL01943
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
51851593-52028410 bp(+) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 51959996 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 |
probably null
Transcript: ENSMUST00000226593
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000227062
|
| Predicted Effect |
probably null
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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd16a |
A |
G |
17: 35,315,459 (GRCm39) |
K169E |
probably benign |
Het |
| Ago4 |
A |
G |
4: 126,410,988 (GRCm39) |
V167A |
probably damaging |
Het |
| Bcam |
C |
T |
7: 19,499,423 (GRCm39) |
R200H |
probably damaging |
Het |
| Cdc37 |
T |
C |
9: 21,054,409 (GRCm39) |
E72G |
probably benign |
Het |
| Chek2 |
T |
A |
5: 110,989,093 (GRCm39) |
|
probably benign |
Het |
| Col6a1 |
A |
T |
10: 76,554,957 (GRCm39) |
|
probably null |
Het |
| Col7a1 |
A |
G |
9: 108,813,084 (GRCm39) |
|
probably null |
Het |
| Ecpas |
A |
G |
4: 58,849,937 (GRCm39) |
F429L |
possibly damaging |
Het |
| Fmo3 |
C |
T |
1: 162,794,575 (GRCm39) |
R165H |
probably benign |
Het |
| Gm2663 |
C |
T |
6: 40,973,010 (GRCm39) |
G199D |
probably damaging |
Het |
| Gm8108 |
T |
C |
14: 4,127,217 (GRCm38) |
S134P |
probably damaging |
Het |
| Kif1b |
A |
T |
4: 149,299,362 (GRCm39) |
|
probably null |
Het |
| Krt76 |
T |
A |
15: 101,797,480 (GRCm39) |
D293V |
probably null |
Het |
| Lifr |
T |
A |
15: 7,217,630 (GRCm39) |
C853S |
probably damaging |
Het |
| Muc5b |
A |
T |
7: 141,415,234 (GRCm39) |
I2727F |
possibly damaging |
Het |
| Myo7a |
T |
C |
7: 97,714,854 (GRCm39) |
K1606R |
possibly damaging |
Het |
| Noxred1 |
G |
T |
12: 87,269,955 (GRCm39) |
Q259K |
probably benign |
Het |
| Obox3 |
C |
T |
7: 15,360,777 (GRCm39) |
E121K |
probably benign |
Het |
| Or14j1 |
G |
A |
17: 38,145,944 (GRCm39) |
R18H |
probably benign |
Het |
| Or1j19 |
T |
C |
2: 36,677,095 (GRCm39) |
I186T |
probably benign |
Het |
| Or2y16 |
T |
A |
11: 49,335,015 (GRCm39) |
C112* |
probably null |
Het |
| Or5b24 |
T |
C |
19: 12,913,038 (GRCm39) |
L312S |
probably benign |
Het |
| Phf11 |
A |
T |
14: 59,488,611 (GRCm39) |
V62E |
probably damaging |
Het |
| Pkd2l2 |
T |
C |
18: 34,550,089 (GRCm39) |
F245L |
probably damaging |
Het |
| Pla2g6 |
T |
C |
15: 79,197,316 (GRCm39) |
Q86R |
probably null |
Het |
| Polq |
T |
A |
16: 36,881,805 (GRCm39) |
I1044K |
possibly damaging |
Het |
| Pomgnt2 |
G |
T |
9: 121,811,536 (GRCm39) |
T415N |
probably benign |
Het |
| Pprc1 |
T |
A |
19: 46,052,983 (GRCm39) |
|
probably benign |
Het |
| Prol1 |
T |
A |
5: 88,475,820 (GRCm39) |
M70K |
probably benign |
Het |
| Ptpn22 |
T |
A |
3: 103,793,652 (GRCm39) |
V601E |
probably benign |
Het |
| Slc16a3 |
T |
C |
11: 120,847,709 (GRCm39) |
|
probably null |
Het |
| Slco1b2 |
A |
G |
6: 141,622,012 (GRCm39) |
D489G |
possibly damaging |
Het |
| Sphk2 |
T |
C |
7: 45,360,148 (GRCm39) |
|
probably benign |
Het |
| Stat4 |
C |
T |
1: 52,136,014 (GRCm39) |
T441I |
possibly damaging |
Het |
| Tle1 |
A |
T |
4: 72,040,639 (GRCm39) |
V647E |
probably damaging |
Het |
| Tnrc6b |
C |
A |
15: 80,811,896 (GRCm39) |
Y814* |
probably null |
Het |
| Tubgcp3 |
A |
G |
8: 12,704,301 (GRCm39) |
F256S |
probably damaging |
Het |
| Uqcrb |
A |
T |
13: 67,050,827 (GRCm39) |
|
probably null |
Het |
| Vmn1r200 |
A |
T |
13: 22,580,097 (GRCm39) |
E300V |
possibly damaging |
Het |
| Zfp324 |
C |
T |
7: 12,702,713 (GRCm39) |
|
probably benign |
Het |
| Zxdc |
T |
C |
6: 90,349,520 (GRCm39) |
|
probably benign |
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 |
|
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 |
2014-05-07 |
Incidental Mutation