Incidental Mutation 'R1443:Cblb'
| ID |
158680 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cblb
|
| Ensembl Gene |
ENSMUSG00000022637 |
| Gene Name |
Casitas B-lineage lymphoma b |
| Synonyms |
Cbl-b |
| MMRRC Submission |
039498-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.208)
|
| Stock # |
R1443 (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 51959974 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 322
(D322E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153787
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114471]
[ENSMUST00000226593]
[ENSMUST00000227062]
[ENSMUST00000227756]
[ENSMUST00000227879]
|
| AlphaFold |
Q3TTA7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114471
AA Change: D322E
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000110115
Gene: ENSMUSG00000022637
AA Change: D322E
| 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 |
possibly damaging
Transcript: ENSMUST00000226593
AA Change: D322E
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227062
AA Change: D322E
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227756
AA Change: D170E
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227879
AA Change: D322E
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.2%
- 20x: 85.7%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr8 |
A |
G |
14: 29,706,056 (GRCm39) |
M99V |
possibly damaging |
Het |
| Adamtsl2 |
T |
A |
2: 26,993,078 (GRCm39) |
C703S |
possibly damaging |
Het |
| Afap1 |
G |
T |
5: 36,126,005 (GRCm39) |
K333N |
probably damaging |
Het |
| Aldh3a2 |
G |
A |
11: 61,155,133 (GRCm39) |
S137L |
probably damaging |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Aoc1 |
A |
T |
6: 48,882,379 (GRCm39) |
K107M |
possibly damaging |
Het |
| Aoc1l1 |
A |
T |
6: 48,952,849 (GRCm39) |
Y258F |
probably damaging |
Het |
| Bltp2 |
T |
A |
11: 78,153,624 (GRCm39) |
S56R |
probably damaging |
Het |
| Bmp8a |
G |
T |
4: 123,210,758 (GRCm39) |
S252R |
possibly damaging |
Het |
| C7 |
T |
C |
15: 5,088,901 (GRCm39) |
I13M |
probably benign |
Het |
| Cfap54 |
G |
A |
10: 92,768,583 (GRCm39) |
T180I |
probably damaging |
Het |
| Clrn2 |
C |
T |
5: 45,617,453 (GRCm39) |
A108V |
probably damaging |
Het |
| Cspg4 |
T |
A |
9: 56,793,796 (GRCm39) |
D510E |
probably damaging |
Het |
| Cyp2c40 |
A |
T |
19: 39,766,415 (GRCm39) |
N393K |
possibly damaging |
Het |
| Dcaf5 |
T |
C |
12: 80,410,843 (GRCm39) |
Y294C |
probably damaging |
Het |
| Dclk3 |
T |
A |
9: 111,298,088 (GRCm39) |
M544K |
probably benign |
Het |
| Ell3 |
A |
T |
2: 121,269,946 (GRCm39) |
F388I |
probably damaging |
Het |
| Fam78b |
A |
G |
1: 166,906,329 (GRCm39) |
I163V |
probably damaging |
Het |
| Gnptab |
T |
C |
10: 88,269,943 (GRCm39) |
L882P |
probably damaging |
Het |
| Herc2 |
A |
T |
7: 55,854,481 (GRCm39) |
D3802V |
possibly damaging |
Het |
| Hs3st5 |
A |
G |
10: 36,709,410 (GRCm39) |
E315G |
probably benign |
Het |
| Idh3b |
A |
T |
2: 130,125,974 (GRCm39) |
|
probably null |
Het |
| Lama4 |
G |
A |
10: 38,949,639 (GRCm39) |
E911K |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,404,800 (GRCm39) |
I436T |
probably damaging |
Het |
| Mgam |
C |
A |
6: 40,736,714 (GRCm39) |
S871* |
probably null |
Het |
| Mtmr7 |
A |
G |
8: 41,013,923 (GRCm39) |
S212P |
probably damaging |
Het |
| Mylk2 |
A |
G |
2: 152,761,336 (GRCm39) |
T480A |
probably damaging |
Het |
| Myo3a |
A |
T |
2: 22,287,437 (GRCm39) |
N191I |
probably damaging |
Het |
| Nanog |
C |
T |
6: 122,688,734 (GRCm39) |
S105F |
probably damaging |
Het |
| Nanos2 |
A |
G |
7: 18,721,564 (GRCm39) |
Y12C |
probably damaging |
Het |
| Nsg1 |
C |
T |
5: 38,312,987 (GRCm39) |
V71I |
probably benign |
Het |
| Or10g3 |
A |
T |
14: 52,610,408 (GRCm39) |
I34N |
probably damaging |
Het |
| Or13a1 |
T |
C |
6: 116,471,386 (GRCm39) |
L272S |
probably benign |
Het |
| Or2ad1 |
C |
T |
13: 21,326,337 (GRCm39) |
V297I |
probably benign |
Het |
| Or51a42 |
A |
T |
7: 103,707,930 (GRCm39) |
I293N |
probably damaging |
Het |
| Or5b105 |
G |
T |
19: 13,080,568 (GRCm39) |
Y33* |
probably null |
Het |
| Pcdhb17 |
A |
G |
18: 37,619,701 (GRCm39) |
Q497R |
probably benign |
Het |
| Pcsk7 |
C |
A |
9: 45,837,284 (GRCm39) |
P536Q |
probably damaging |
Het |
| Phactr4 |
G |
A |
4: 132,104,559 (GRCm39) |
T256I |
probably benign |
Het |
| Phyhip |
A |
G |
14: 70,704,731 (GRCm39) |
K317E |
probably damaging |
Het |
| Pkhd1 |
C |
T |
1: 20,604,782 (GRCm39) |
G1178R |
probably damaging |
Het |
| Ppp1r9a |
G |
A |
6: 5,057,557 (GRCm39) |
G544D |
probably damaging |
Het |
| Ptpn3 |
T |
C |
4: 57,225,775 (GRCm39) |
D480G |
probably benign |
Het |
| Ptprn2 |
A |
T |
12: 117,217,235 (GRCm39) |
K918N |
probably damaging |
Het |
| Rab42 |
T |
C |
4: 132,029,658 (GRCm39) |
D188G |
probably benign |
Het |
| Rasgrf2 |
C |
A |
13: 92,131,795 (GRCm39) |
D20Y |
probably damaging |
Het |
| Ryr2 |
G |
A |
13: 11,794,152 (GRCm39) |
T942I |
probably benign |
Het |
| Sbpl |
T |
C |
17: 24,172,328 (GRCm39) |
K197R |
unknown |
Het |
| Slc44a1 |
T |
A |
4: 53,561,069 (GRCm39) |
V595E |
probably damaging |
Het |
| Slc6a19 |
A |
G |
13: 73,832,463 (GRCm39) |
M410T |
probably damaging |
Het |
| Sntb1 |
A |
T |
15: 55,511,351 (GRCm39) |
L411H |
probably damaging |
Het |
| Synj2 |
A |
G |
17: 6,073,940 (GRCm39) |
K245E |
probably damaging |
Het |
| Tasor2 |
T |
C |
13: 3,625,543 (GRCm39) |
K1469R |
probably benign |
Het |
| Tmem131 |
G |
A |
1: 36,864,559 (GRCm39) |
T558I |
probably damaging |
Het |
| Tnrc18 |
A |
T |
5: 142,757,288 (GRCm39) |
S1078T |
unknown |
Het |
| Trmu |
T |
A |
15: 85,781,302 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
T |
2: 76,721,430 (GRCm39) |
|
probably benign |
Het |
| Tyw3 |
T |
C |
3: 154,293,160 (GRCm39) |
T172A |
probably benign |
Het |
| Vldlr |
T |
C |
19: 27,217,121 (GRCm39) |
I348T |
possibly damaging |
Het |
| Zfp114 |
A |
G |
7: 23,877,194 (GRCm39) |
D12G |
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 |
|
|
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'- ATGTCACAGCTCTATCACAGCAGC -3'
(R):5'- AGGCACCACTATTGCTATTGGTTCG -3'
Sequencing Primer
(F):5'- CTAAATGATGCTGCTCAAGAAGAC -3'
(R):5'- GCTCTATGCCCAGACAGTTT -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation