Incidental Mutation 'R0294:Cblb'
| ID |
26317 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cblb
|
| Ensembl Gene |
ENSMUSG00000022637 |
| Gene Name |
Casitas B-lineage lymphoma b |
| Synonyms |
Cbl-b |
| MMRRC Submission |
038511-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.208)
|
| Stock # |
R0294 (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 G
at 51956187 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 263
(F263L)
|
| 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: F263L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000110115
Gene: ENSMUSG00000022637
AA Change: F263L
| 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: F263L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227062
AA Change: F263L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227756
AA Change: F111L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227879
AA Change: F263L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 95.4%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930527J03Rik |
ACCC |
ACC |
1: 178,276,503 (GRCm38) |
|
noncoding transcript |
Het |
| Aadat |
A |
G |
8: 60,987,642 (GRCm39) |
E319G |
possibly damaging |
Het |
| Abca13 |
A |
G |
11: 9,219,122 (GRCm39) |
|
probably null |
Het |
| Actl7b |
A |
T |
4: 56,740,848 (GRCm39) |
L170Q |
possibly damaging |
Het |
| Adam29 |
C |
A |
8: 56,326,311 (GRCm39) |
V48L |
probably benign |
Het |
| Aknad1 |
A |
G |
3: 108,682,508 (GRCm39) |
Y528C |
probably damaging |
Het |
| Alas1 |
T |
A |
9: 106,118,455 (GRCm39) |
K222N |
probably damaging |
Het |
| Aplf |
A |
G |
6: 87,623,227 (GRCm39) |
V284A |
probably benign |
Het |
| Atp11a |
G |
A |
8: 12,877,524 (GRCm39) |
V317M |
probably benign |
Het |
| Bub3 |
A |
G |
7: 131,169,953 (GRCm39) |
E206G |
possibly damaging |
Het |
| Ces2h |
T |
A |
8: 105,743,236 (GRCm39) |
M157K |
probably benign |
Het |
| Cfh |
A |
G |
1: 140,110,999 (GRCm39) |
F6L |
probably benign |
Het |
| Chst1 |
G |
T |
2: 92,443,987 (GRCm39) |
R153L |
probably damaging |
Het |
| Cimap2 |
T |
C |
4: 106,470,361 (GRCm39) |
D232G |
probably damaging |
Het |
| Cntnap5a |
T |
A |
1: 115,843,046 (GRCm39) |
N121K |
probably benign |
Het |
| Crybg1 |
A |
T |
10: 43,862,372 (GRCm39) |
S1467R |
probably damaging |
Het |
| Cyp2d22 |
A |
G |
15: 82,258,646 (GRCm39) |
F72L |
possibly damaging |
Het |
| Dmrt2 |
C |
T |
19: 25,655,435 (GRCm39) |
P345S |
probably damaging |
Het |
| Dock8 |
T |
C |
19: 25,165,714 (GRCm39) |
I1866T |
probably damaging |
Het |
| Egfem1 |
A |
G |
3: 29,744,270 (GRCm39) |
N503S |
probably damaging |
Het |
| Ehbp1 |
T |
C |
11: 22,045,427 (GRCm39) |
D774G |
probably benign |
Het |
| Foxp2 |
C |
A |
6: 15,376,773 (GRCm39) |
|
probably benign |
Het |
| Gins3 |
T |
C |
8: 96,364,547 (GRCm39) |
V99A |
possibly damaging |
Het |
| Grm1 |
A |
T |
10: 10,956,143 (GRCm39) |
I47N |
probably damaging |
Het |
| H2aj |
C |
G |
6: 136,785,602 (GRCm39) |
R89G |
probably damaging |
Het |
| Hsdl2 |
T |
A |
4: 59,601,408 (GRCm39) |
S127T |
probably benign |
Het |
| Il5ra |
A |
T |
6: 106,689,362 (GRCm39) |
M410K |
probably benign |
Het |
| Ints7 |
A |
G |
1: 191,344,003 (GRCm39) |
S548G |
possibly damaging |
Het |
| Kcnt1 |
A |
G |
2: 25,778,122 (GRCm39) |
E80G |
probably damaging |
Het |
| Lgr6 |
T |
A |
1: 135,032,799 (GRCm39) |
Q27L |
unknown |
Het |
| Lgr6 |
A |
G |
1: 134,915,629 (GRCm39) |
V373A |
probably damaging |
Het |
| Map3k14 |
T |
C |
11: 103,117,963 (GRCm39) |
I610V |
possibly damaging |
Het |
| Marf1 |
C |
T |
16: 13,960,398 (GRCm39) |
A549T |
probably damaging |
Het |
| Metap1d |
T |
A |
2: 71,352,889 (GRCm39) |
H239Q |
probably benign |
Het |
| Mgst2 |
A |
G |
3: 51,589,251 (GRCm39) |
Y88C |
probably damaging |
Het |
| Mroh4 |
T |
C |
15: 74,477,998 (GRCm39) |
N903D |
probably benign |
Het |
| Nbeal2 |
T |
G |
9: 110,461,927 (GRCm39) |
D1476A |
probably damaging |
Het |
| Nlgn1 |
C |
A |
3: 26,187,625 (GRCm39) |
A87S |
probably benign |
Het |
| Nln |
C |
T |
13: 104,189,087 (GRCm39) |
G295S |
probably damaging |
Het |
| Nnt |
T |
A |
13: 119,472,803 (GRCm39) |
Y719F |
probably benign |
Het |
| Nnt |
T |
G |
13: 119,474,953 (GRCm39) |
I659L |
possibly damaging |
Het |
| Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
| Or51b17 |
A |
T |
7: 103,542,137 (GRCm39) |
H268Q |
probably benign |
Het |
| Or52s6 |
G |
A |
7: 103,092,291 (GRCm39) |
T13I |
possibly damaging |
Het |
| Or5p78 |
A |
T |
7: 108,212,357 (GRCm39) |
Y281F |
probably damaging |
Het |
| Or9g4 |
A |
G |
2: 85,505,060 (GRCm39) |
V145A |
probably damaging |
Het |
| Otogl |
C |
T |
10: 107,613,089 (GRCm39) |
C2041Y |
probably damaging |
Het |
| Patj |
G |
T |
4: 98,385,285 (GRCm39) |
D300Y |
probably damaging |
Het |
| Pkhd1l1 |
A |
T |
15: 44,423,831 (GRCm39) |
E3124D |
probably benign |
Het |
| Plbd2 |
A |
G |
5: 120,625,514 (GRCm39) |
|
probably null |
Het |
| Pphln1 |
T |
C |
15: 93,318,171 (GRCm39) |
Y57H |
probably damaging |
Het |
| Ppp1r16b |
C |
T |
2: 158,588,523 (GRCm39) |
T78M |
probably damaging |
Het |
| Prss40 |
T |
G |
1: 34,595,162 (GRCm39) |
D224A |
possibly damaging |
Het |
| Senp6 |
A |
G |
9: 80,021,007 (GRCm39) |
|
probably null |
Het |
| Shank3 |
A |
G |
15: 89,416,301 (GRCm39) |
E666G |
probably damaging |
Het |
| Slc13a1 |
T |
A |
6: 24,090,779 (GRCm39) |
I547F |
possibly damaging |
Het |
| Slc17a3 |
C |
T |
13: 24,039,841 (GRCm39) |
S293F |
probably damaging |
Het |
| Slc22a18 |
G |
A |
7: 143,046,578 (GRCm39) |
|
probably null |
Het |
| Slc5a4b |
A |
G |
10: 75,917,161 (GRCm39) |
C292R |
probably damaging |
Het |
| Spata31e5 |
T |
C |
1: 28,817,744 (GRCm39) |
Q96R |
probably benign |
Het |
| Sphkap |
T |
A |
1: 83,255,966 (GRCm39) |
E594D |
possibly damaging |
Het |
| Srpra |
T |
A |
9: 35,126,811 (GRCm39) |
M61K |
probably damaging |
Het |
| Trmt10c |
A |
T |
16: 55,855,240 (GRCm39) |
Y132N |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCATTGGGGCTACACCAAGAAAAG -3'
(R):5'- GAGCAGGAACACTGTGTACCCAAC -3'
Sequencing Primer
(F):5'- GATCACAAATTCTCTATTGGCTGTC -3'
(R):5'- GGGCTCAATTAATATGCACCCTC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation