Incidental Mutation 'R8236:Cblb'
ID |
637378 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cblb
|
Ensembl Gene |
ENSMUSG00000022637 |
Gene Name |
Casitas B-lineage lymphoma b |
Synonyms |
Cbl-b |
MMRRC Submission |
067668-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.188)
|
Stock # |
R8236 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
51851593-52028410 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 51986392 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Glutamine
at position 545
(P545Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110115
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114471]
|
AlphaFold |
Q3TTA7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114471
AA Change: P545Q
PolyPhen 2
Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000110115 Gene: ENSMUSG00000022637 AA Change: P545Q
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 98.8%
|
Validation Efficiency |
100% (59/59) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2810459M11Rik |
C |
T |
1: 85,974,115 (GRCm39) |
A144V |
possibly damaging |
Het |
Actr8 |
A |
G |
14: 29,704,585 (GRCm39) |
I51M |
probably damaging |
Het |
Afm |
A |
T |
5: 90,671,747 (GRCm39) |
D143V |
probably damaging |
Het |
Ankfy1 |
T |
A |
11: 72,645,181 (GRCm39) |
S753R |
possibly damaging |
Het |
Aven |
C |
T |
2: 112,390,120 (GRCm39) |
R8W |
probably benign |
Het |
Bicdl1 |
T |
C |
5: 115,787,618 (GRCm39) |
H527R |
probably benign |
Het |
Birc6 |
G |
C |
17: 74,918,126 (GRCm39) |
L1845F |
probably damaging |
Het |
Brip1 |
C |
A |
11: 86,029,938 (GRCm39) |
D569Y |
probably damaging |
Het |
Cab39 |
T |
C |
1: 85,776,092 (GRCm39) |
L263P |
probably damaging |
Het |
Cdk5rap2 |
G |
T |
4: 70,160,722 (GRCm39) |
P1579Q |
probably benign |
Het |
Cdt1 |
A |
G |
8: 123,298,767 (GRCm39) |
E468G |
probably damaging |
Het |
Col28a1 |
A |
G |
6: 8,097,024 (GRCm39) |
|
probably null |
Het |
Coro2a |
A |
G |
4: 46,548,796 (GRCm39) |
I166T |
possibly damaging |
Het |
Ctnnd2 |
G |
A |
15: 30,647,164 (GRCm39) |
A287T |
probably benign |
Het |
Dcc |
C |
T |
18: 72,088,089 (GRCm39) |
V50I |
probably benign |
Het |
Defb30 |
A |
T |
14: 63,287,216 (GRCm39) |
M19K |
unknown |
Het |
Dync2h1 |
C |
A |
9: 7,080,363 (GRCm39) |
|
probably benign |
Het |
Edc4 |
A |
G |
8: 106,618,905 (GRCm39) |
T1291A |
possibly damaging |
Het |
Epyc |
A |
T |
10: 97,517,067 (GRCm39) |
N302Y |
probably damaging |
Het |
Espn |
G |
A |
4: 152,233,487 (GRCm39) |
T106I |
probably damaging |
Het |
Fam135a |
T |
C |
1: 24,059,729 (GRCm39) |
|
probably null |
Het |
Fam171b |
G |
A |
2: 83,710,550 (GRCm39) |
E741K |
probably damaging |
Het |
Fgfr1 |
G |
T |
8: 26,052,288 (GRCm39) |
E205* |
probably null |
Het |
Flt3 |
A |
G |
5: 147,293,670 (GRCm39) |
S469P |
probably benign |
Het |
Gdpd3 |
A |
G |
7: 126,367,838 (GRCm39) |
K224E |
probably benign |
Het |
Gm10110 |
C |
T |
14: 90,135,677 (GRCm39) |
V76M |
noncoding transcript |
Het |
Gm43518 |
C |
T |
5: 124,072,285 (GRCm39) |
Q17* |
probably null |
Het |
Gm4353 |
T |
C |
7: 115,682,618 (GRCm39) |
Y321C |
probably damaging |
Het |
Gphn |
A |
G |
12: 78,711,311 (GRCm39) |
H631R |
probably damaging |
Het |
Hook1 |
T |
A |
4: 95,903,042 (GRCm39) |
|
probably null |
Het |
Il9 |
T |
A |
13: 56,630,058 (GRCm39) |
|
probably benign |
Het |
Itpr2 |
A |
G |
6: 146,292,281 (GRCm39) |
|
probably null |
Het |
Lhcgr |
A |
T |
17: 89,050,014 (GRCm39) |
L504* |
probably null |
Het |
Mical3 |
A |
G |
6: 120,989,504 (GRCm39) |
V272A |
|
Het |
Mup10 |
A |
G |
4: 60,537,562 (GRCm39) |
I63T |
probably damaging |
Het |
Mxi1 |
C |
G |
19: 53,358,029 (GRCm39) |
P165R |
probably damaging |
Het |
Nanog |
A |
T |
6: 122,690,131 (GRCm39) |
I179F |
probably benign |
Het |
Or5w14 |
T |
A |
2: 87,542,104 (GRCm39) |
I49F |
possibly damaging |
Het |
Or8b54 |
G |
A |
9: 38,686,577 (GRCm39) |
V9M |
noncoding transcript |
Het |
Pip |
A |
G |
6: 41,824,596 (GRCm39) |
D28G |
probably damaging |
Het |
Ppp2r3d |
T |
C |
9: 124,440,067 (GRCm38) |
H53R |
|
Het |
Psmd6 |
GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC |
GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC |
14: 14,119,882 (GRCm38) |
|
probably null |
Het |
Ptpn4 |
A |
G |
1: 119,606,552 (GRCm39) |
V781A |
possibly damaging |
Het |
Ptprt |
C |
T |
2: 161,528,988 (GRCm39) |
|
probably null |
Het |
Rtf1 |
T |
C |
2: 119,531,695 (GRCm39) |
S141P |
probably damaging |
Het |
Slc2a1 |
G |
C |
4: 118,990,454 (GRCm39) |
S226T |
probably benign |
Het |
Smyd3 |
A |
C |
1: 179,233,205 (GRCm39) |
|
probably null |
Het |
Sos1 |
T |
C |
17: 80,715,712 (GRCm39) |
E1015G |
probably benign |
Het |
Sult1b1 |
G |
T |
5: 87,669,383 (GRCm39) |
T155N |
probably damaging |
Het |
Tcam1 |
A |
G |
11: 106,177,243 (GRCm39) |
I412V |
probably benign |
Het |
Tet2 |
G |
A |
3: 133,193,547 (GRCm39) |
P296S |
probably benign |
Het |
Tmem30c |
T |
C |
16: 57,096,542 (GRCm39) |
D193G |
probably null |
Het |
Trem2 |
G |
T |
17: 48,658,934 (GRCm39) |
W233L |
probably benign |
Het |
Trpm3 |
C |
A |
19: 22,964,772 (GRCm39) |
D1422E |
probably benign |
Het |
Ttbk1 |
T |
G |
17: 46,781,655 (GRCm39) |
D366A |
probably damaging |
Het |
Ttyh1 |
G |
A |
7: 4,128,547 (GRCm39) |
G148D |
probably benign |
Het |
Ubr2 |
T |
C |
17: 47,262,835 (GRCm39) |
M1259V |
probably benign |
Het |
Zfp608 |
T |
A |
18: 55,032,281 (GRCm39) |
D553V |
probably damaging |
Het |
Zkscan2 |
A |
G |
7: 123,079,135 (GRCm39) |
S941P |
probably benign |
Het |
Zranb1 |
T |
C |
7: 132,551,393 (GRCm39) |
Y15H |
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 |
|
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 |
|
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 |
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'- TCTCTGGAATCACAGGAGTTTAC -3'
(R):5'- CATCACCTGGTTAGTCCCGAAG -3'
Sequencing Primer
(F):5'- CTGGAATCACAGGAGTTTACAAATTC -3'
(R):5'- AAGGCATCCCGAGGGCAC -3'
|
Posted On |
2020-07-13 |