Incidental Mutation 'R2231:Cblb'
| ID |
240061 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cblb
|
| Ensembl Gene |
ENSMUSG00000022637 |
| Gene Name |
Casitas B-lineage lymphoma b |
| Synonyms |
Cbl-b |
| MMRRC Submission |
040232-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.208)
|
| Stock # |
R2231 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
51851593-52028410 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 52014635 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 895
(S895T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153787
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114471]
[ENSMUST00000226593]
[ENSMUST00000227062]
[ENSMUST00000227756]
[ENSMUST00000227879]
|
| AlphaFold |
Q3TTA7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114471
AA Change: S851T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000110115
Gene: ENSMUSG00000022637
AA Change: S851T
| 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 benign
Transcript: ENSMUST00000226593
AA Change: S895T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227062
AA Change: S851T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227756
AA Change: S743T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227879
AA Change: S895T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.7%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr1b |
G |
A |
1: 36,739,440 (GRCm39) |
R336W |
probably damaging |
Het |
| Alkbh6 |
G |
A |
7: 30,012,015 (GRCm39) |
|
probably null |
Het |
| Ankrd63 |
A |
G |
2: 118,533,846 (GRCm39) |
|
probably benign |
Het |
| Arsa |
T |
C |
15: 89,359,925 (GRCm39) |
M1V |
probably null |
Het |
| Cdk8 |
A |
T |
5: 146,168,414 (GRCm39) |
|
probably benign |
Het |
| Coch |
G |
A |
12: 51,649,648 (GRCm39) |
V320I |
probably benign |
Het |
| Cyp2c68 |
T |
A |
19: 39,687,804 (GRCm39) |
S398C |
probably benign |
Het |
| Cyp2e1 |
T |
C |
7: 140,344,827 (GRCm39) |
S98P |
probably damaging |
Het |
| Dnah5 |
G |
A |
15: 28,408,563 (GRCm39) |
|
probably null |
Het |
| Eif2b5 |
T |
C |
16: 20,323,520 (GRCm39) |
Y424H |
probably benign |
Het |
| Enoph1 |
C |
T |
5: 100,188,136 (GRCm39) |
T20I |
probably damaging |
Het |
| Entpd7 |
T |
C |
19: 43,710,255 (GRCm39) |
V304A |
probably benign |
Het |
| Fam227a |
T |
A |
15: 79,499,582 (GRCm39) |
Y591F |
possibly damaging |
Het |
| Gal3st1 |
T |
C |
11: 3,948,282 (GRCm39) |
I163T |
probably benign |
Het |
| Kif21a |
G |
A |
15: 90,869,565 (GRCm39) |
Q429* |
probably null |
Het |
| L1cam |
T |
A |
X: 72,904,947 (GRCm39) |
N503I |
possibly damaging |
Het |
| Myl3 |
T |
C |
9: 110,596,979 (GRCm39) |
L113P |
probably damaging |
Het |
| Nup153 |
A |
G |
13: 46,863,103 (GRCm39) |
|
probably null |
Het |
| Oaz3 |
T |
C |
3: 94,341,846 (GRCm39) |
T130A |
probably benign |
Het |
| Or4c3d |
A |
T |
2: 89,882,569 (GRCm39) |
F33Y |
probably benign |
Het |
| Or5b12b |
A |
G |
19: 12,861,313 (GRCm39) |
I23V |
probably benign |
Het |
| Pacs2 |
G |
A |
12: 113,026,987 (GRCm39) |
D605N |
probably damaging |
Het |
| Pdk3 |
G |
T |
X: 92,857,604 (GRCm39) |
N59K |
probably damaging |
Het |
| Piezo2 |
A |
T |
18: 63,278,143 (GRCm39) |
C254S |
probably damaging |
Het |
| Plekhd1 |
T |
C |
12: 80,768,725 (GRCm39) |
F403L |
possibly damaging |
Het |
| Pou5f1 |
A |
G |
17: 35,820,959 (GRCm39) |
T134A |
probably benign |
Het |
| Ppp3r1 |
G |
A |
11: 17,143,115 (GRCm39) |
G68R |
probably damaging |
Het |
| Prr5 |
T |
C |
15: 84,586,981 (GRCm39) |
S244P |
probably benign |
Het |
| Sacs |
A |
G |
14: 61,443,378 (GRCm39) |
|
probably null |
Het |
| Sbno1 |
A |
T |
5: 124,543,767 (GRCm39) |
D257E |
probably damaging |
Het |
| Scn10a |
T |
C |
9: 119,462,916 (GRCm39) |
E1040G |
possibly damaging |
Het |
| Sgce |
T |
C |
6: 4,730,066 (GRCm39) |
K53E |
probably benign |
Het |
| Slc6a11 |
A |
G |
6: 114,171,590 (GRCm39) |
T254A |
probably damaging |
Het |
| Spag1 |
A |
G |
15: 36,191,313 (GRCm39) |
Y180C |
probably benign |
Het |
| Ssna1 |
G |
T |
2: 25,162,019 (GRCm39) |
N58K |
possibly damaging |
Het |
| Tbx3 |
C |
A |
5: 119,815,589 (GRCm39) |
N296K |
probably damaging |
Het |
| Tcerg1 |
A |
G |
18: 42,657,309 (GRCm39) |
T264A |
unknown |
Het |
| Trdmt1 |
A |
T |
2: 13,530,436 (GRCm39) |
F82I |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,774,497 (GRCm39) |
F2136L |
probably damaging |
Het |
| Usb1 |
T |
G |
8: 96,070,674 (GRCm39) |
L200R |
probably damaging |
Het |
| Usp33 |
C |
T |
3: 152,079,023 (GRCm39) |
A425V |
probably benign |
Het |
| Zfp92 |
G |
T |
X: 72,466,358 (GRCm39) |
L450F |
possibly damaging |
Het |
| Zw10 |
C |
T |
9: 48,975,421 (GRCm39) |
T282M |
possibly 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 |
|
|
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 |
|
|
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 |
|
|
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'- AACCAGCTGGGATCATTGTC -3'
(R):5'- CTGTGAGTTTACTGACTGTTCAC -3'
Sequencing Primer
(F):5'- AAGTTCCATTGCCTCCTG -3'
(R):5'- CTGTTCACTCAGAATAGTAAGCCTC -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation