Incidental Mutation 'R9741:Cblb'
| ID |
731856 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cblb
|
| Ensembl Gene |
ENSMUSG00000022637 |
| Gene Name |
Casitas B-lineage lymphoma b |
| Synonyms |
Cbl-b |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.208)
|
| Stock # |
R9741 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
51851593-52028410 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 51932490 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 149
(I149T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110115
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114471]
[ENSMUST00000226593]
[ENSMUST00000227062]
[ENSMUST00000227756]
[ENSMUST00000227879]
|
| AlphaFold |
Q3TTA7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114471
AA Change: I149T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110115
Gene: ENSMUSG00000022637
AA Change: I149T
| 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: I149T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227062
AA Change: I149T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227756
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227879
AA Change: I149T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 99.0%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd6 |
T |
A |
4: 32,860,339 (GRCm39) |
K35* |
probably null |
Het |
| Apoc3 |
G |
T |
9: 46,145,998 (GRCm39) |
T5K |
unknown |
Het |
| Arhgap20 |
T |
A |
9: 51,760,730 (GRCm39) |
Y860* |
probably null |
Het |
| Arhgef11 |
T |
C |
3: 87,595,156 (GRCm39) |
S123P |
probably benign |
Het |
| Armh4 |
A |
G |
14: 50,008,081 (GRCm39) |
I464T |
probably benign |
Het |
| Axdnd1 |
T |
A |
1: 156,169,385 (GRCm39) |
Y827F |
probably benign |
Het |
| Bbs5 |
A |
G |
2: 69,484,695 (GRCm39) |
T122A |
probably benign |
Het |
| Btbd6 |
T |
A |
12: 112,940,923 (GRCm39) |
D173E |
probably benign |
Het |
| Cyp2ab1 |
G |
A |
16: 20,132,953 (GRCm39) |
R214C |
probably damaging |
Het |
| Dbn1 |
C |
T |
13: 55,624,114 (GRCm39) |
S372N |
possibly damaging |
Het |
| Dlg1 |
T |
A |
16: 31,676,735 (GRCm39) |
Y776* |
probably null |
Het |
| Dock9 |
A |
T |
14: 121,877,516 (GRCm39) |
I409N |
probably damaging |
Het |
| Ect2 |
A |
T |
3: 27,156,607 (GRCm39) |
N815K |
probably benign |
Het |
| Fbxw11 |
G |
T |
11: 32,685,358 (GRCm39) |
V398L |
probably damaging |
Het |
| Gcsam |
T |
C |
16: 45,436,319 (GRCm39) |
F34S |
possibly damaging |
Het |
| Ghsr |
G |
A |
3: 27,428,898 (GRCm39) |
V308I |
possibly damaging |
Het |
| Gm40460 |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,450 (GRCm39) |
|
probably benign |
Het |
| H1f10 |
A |
G |
6: 87,958,200 (GRCm39) |
Y47H |
probably damaging |
Het |
| Hspg2 |
T |
C |
4: 137,239,962 (GRCm39) |
F510S |
probably damaging |
Het |
| Htr1a |
T |
C |
13: 105,581,861 (GRCm39) |
V367A |
possibly damaging |
Het |
| Iars1 |
T |
G |
13: 49,844,978 (GRCm39) |
F163C |
probably damaging |
Het |
| Igfn1 |
T |
C |
1: 135,895,383 (GRCm39) |
T1728A |
probably benign |
Het |
| Ighv7-3 |
C |
T |
12: 114,116,995 (GRCm39) |
V56I |
probably benign |
Het |
| Lrp1b |
A |
T |
2: 41,002,300 (GRCm39) |
I2133N |
|
Het |
| Lrrc37 |
T |
C |
11: 103,504,255 (GRCm39) |
E2571G |
possibly damaging |
Het |
| Or2d2 |
A |
G |
7: 106,728,366 (GRCm39) |
V78A |
possibly damaging |
Het |
| Or52z1 |
G |
T |
7: 103,436,941 (GRCm39) |
P181H |
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,897,224 (GRCm39) |
T562A |
|
Het |
| Ppp1r10 |
G |
A |
17: 36,237,331 (GRCm39) |
R167Q |
possibly damaging |
Het |
| Ppp1r13l |
C |
T |
7: 19,103,725 (GRCm39) |
R69W |
probably damaging |
Het |
| Proser2 |
G |
A |
2: 6,105,580 (GRCm39) |
A328V |
probably benign |
Het |
| Rhou |
A |
G |
8: 124,380,914 (GRCm39) |
Y77C |
possibly damaging |
Het |
| Rprml |
T |
A |
11: 103,540,857 (GRCm39) |
L84Q |
probably damaging |
Het |
| Ryr3 |
C |
T |
2: 112,477,271 (GRCm39) |
C4515Y |
probably benign |
Het |
| Slc9a3 |
T |
A |
13: 74,306,994 (GRCm39) |
I373N |
possibly damaging |
Het |
| Snx21 |
C |
T |
2: 164,634,231 (GRCm39) |
A339V |
probably benign |
Het |
| Srpk1 |
G |
A |
17: 28,818,652 (GRCm39) |
P395S |
probably benign |
Het |
| Syt14 |
A |
T |
1: 192,666,449 (GRCm39) |
S152T |
unknown |
Het |
| Urb2 |
G |
T |
8: 124,755,751 (GRCm39) |
R486L |
probably damaging |
Het |
| Utrn |
T |
A |
10: 12,702,564 (GRCm39) |
M7L |
probably benign |
Het |
| Vmn2r59 |
T |
A |
7: 41,708,209 (GRCm39) |
D66V |
probably damaging |
Het |
| Znrf2 |
T |
C |
6: 54,855,370 (GRCm39) |
I197T |
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 |
|
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 |
|
|
X0011:Cblb
|
UTSW |
16 |
51,972,992 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATCTCAGAGTGGCATTAACCC -3'
(R):5'- GCATAGCTCAGTGGTAAAACAC -3'
Sequencing Primer
(F):5'- CAGAGTGGCATTAACCCGTTTTTAG -3'
(R):5'- TACACTCAATTAGGTGACTCTGG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation