Incidental Mutation 'R5367:Cblb'
| ID |
429443 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cblb
|
| Ensembl Gene |
ENSMUSG00000022637 |
| Gene Name |
Casitas B-lineage lymphoma b |
| Synonyms |
Cbl-b |
| MMRRC Submission |
042945-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.208)
|
| Stock # |
R5367 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
51851593-52028410 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 52025016 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 970
(F970L)
|
| 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: F926L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000110115
Gene: ENSMUSG00000022637
AA Change: F926L
| 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: F970L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227062
AA Change: F926L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227756
AA Change: F818L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227879
AA Change: F970L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.4330 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
97% (70/72) |
| 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 |
|---|
| Aadac |
T |
C |
3: 59,947,057 (GRCm39) |
Y252H |
probably damaging |
Het |
| Aadat |
T |
C |
8: 60,979,630 (GRCm39) |
I164T |
probably damaging |
Het |
| Adam11 |
A |
G |
11: 102,664,479 (GRCm39) |
H389R |
probably benign |
Het |
| Alkbh5 |
G |
T |
11: 60,429,529 (GRCm39) |
R94L |
possibly damaging |
Het |
| Ampd3 |
A |
G |
7: 110,407,078 (GRCm39) |
K644R |
possibly damaging |
Het |
| Ankhd1 |
T |
A |
18: 36,722,461 (GRCm39) |
L328H |
probably damaging |
Het |
| Ankrd55 |
G |
T |
13: 112,455,036 (GRCm39) |
V45F |
probably damaging |
Het |
| Apol7c |
C |
A |
15: 77,410,347 (GRCm39) |
V200F |
probably damaging |
Het |
| Arap1 |
G |
A |
7: 101,058,337 (GRCm39) |
V721M |
probably damaging |
Het |
| Arhgef40 |
A |
G |
14: 52,227,156 (GRCm39) |
D400G |
probably damaging |
Het |
| Bmp4 |
G |
T |
14: 46,621,950 (GRCm39) |
T198K |
possibly damaging |
Het |
| Celf5 |
A |
G |
10: 81,303,098 (GRCm39) |
S148P |
probably damaging |
Het |
| Ckap5 |
T |
A |
2: 91,445,486 (GRCm39) |
C1708S |
possibly damaging |
Het |
| Clec2l |
T |
C |
6: 38,654,459 (GRCm39) |
F147L |
possibly damaging |
Het |
| Cnksr1 |
T |
A |
4: 133,957,525 (GRCm39) |
I465F |
possibly damaging |
Het |
| Coq10b |
A |
G |
1: 55,092,143 (GRCm39) |
D37G |
probably benign |
Het |
| Cpq |
T |
G |
15: 33,213,250 (GRCm39) |
Y90D |
possibly damaging |
Het |
| Depdc1a |
G |
A |
3: 159,229,591 (GRCm39) |
|
probably null |
Het |
| Eif2ak4 |
T |
A |
2: 118,266,639 (GRCm39) |
|
probably null |
Het |
| Eif3e |
C |
T |
15: 43,115,700 (GRCm39) |
M355I |
probably damaging |
Het |
| Eif4e1b |
G |
A |
13: 54,934,757 (GRCm39) |
V181M |
probably damaging |
Het |
| Erap1 |
A |
G |
13: 74,794,680 (GRCm39) |
E113G |
probably damaging |
Het |
| Fads2 |
A |
G |
19: 10,041,649 (GRCm39) |
L438P |
probably damaging |
Het |
| Fbl |
T |
A |
7: 27,874,475 (GRCm39) |
V67E |
probably damaging |
Het |
| Gde1 |
A |
G |
7: 118,304,629 (GRCm39) |
L82P |
probably damaging |
Het |
| Gm10226 |
T |
C |
17: 21,910,884 (GRCm39) |
S40P |
possibly damaging |
Het |
| Gm10717 |
T |
G |
9: 3,026,317 (GRCm39) |
F205C |
probably damaging |
Het |
| Gm1988 |
T |
A |
7: 38,823,204 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6728 |
T |
C |
6: 136,463,502 (GRCm39) |
|
noncoding transcript |
Het |
| Grb14 |
C |
T |
2: 64,747,653 (GRCm39) |
V369I |
probably benign |
Het |
| Jag1 |
T |
A |
2: 136,927,014 (GRCm39) |
Q915L |
possibly damaging |
Het |
| Kdm5d |
G |
A |
Y: 941,645 (GRCm39) |
G1282D |
probably benign |
Het |
| Krt87 |
A |
T |
15: 101,384,875 (GRCm39) |
L407Q |
probably damaging |
Het |
| Mlf1 |
A |
T |
3: 67,301,296 (GRCm39) |
H118L |
probably damaging |
Het |
| Mmp10 |
G |
T |
9: 7,505,603 (GRCm39) |
C289F |
probably damaging |
Het |
| Mroh2a |
A |
T |
1: 88,182,687 (GRCm39) |
N1205I |
possibly damaging |
Het |
| Myo9a |
T |
A |
9: 59,807,732 (GRCm39) |
S2029T |
probably damaging |
Het |
| Nap1l4 |
A |
C |
7: 143,088,035 (GRCm39) |
S174R |
probably damaging |
Het |
| Nos3 |
A |
G |
5: 24,576,942 (GRCm39) |
T490A |
probably benign |
Het |
| Or12d2 |
T |
A |
17: 37,625,147 (GRCm39) |
I43F |
probably damaging |
Het |
| Or4k35 |
T |
A |
2: 111,100,235 (GRCm39) |
Q159L |
possibly damaging |
Het |
| Or5a1 |
A |
G |
19: 12,097,800 (GRCm39) |
V80A |
possibly damaging |
Het |
| Or5b106 |
G |
A |
19: 13,123,865 (GRCm39) |
L53F |
probably damaging |
Het |
| Or5g23 |
A |
T |
2: 85,438,718 (GRCm39) |
C179S |
probably damaging |
Het |
| Pdlim7 |
G |
C |
13: 55,653,975 (GRCm39) |
T214S |
probably benign |
Het |
| Piezo2 |
T |
C |
18: 63,197,802 (GRCm39) |
E1578G |
probably damaging |
Het |
| Ptcd1 |
T |
A |
5: 145,084,715 (GRCm39) |
|
probably benign |
Het |
| Sart3 |
C |
T |
5: 113,897,277 (GRCm39) |
|
probably null |
Het |
| Scara5 |
CG |
C |
14: 65,997,111 (GRCm39) |
|
probably null |
Het |
| Scrn2 |
A |
G |
11: 96,923,953 (GRCm39) |
D279G |
possibly damaging |
Het |
| Sh2d3c |
A |
G |
2: 32,635,914 (GRCm39) |
D94G |
probably damaging |
Het |
| Slc12a4 |
A |
T |
8: 106,678,266 (GRCm39) |
V309E |
probably damaging |
Het |
| Slc1a6 |
A |
G |
10: 78,623,637 (GRCm39) |
E12G |
probably damaging |
Het |
| Smarcal1 |
T |
C |
1: 72,635,135 (GRCm39) |
|
probably null |
Het |
| Smr3a |
T |
C |
5: 88,155,897 (GRCm39) |
|
probably benign |
Het |
| Stox2 |
A |
G |
8: 47,656,260 (GRCm39) |
I72T |
probably damaging |
Het |
| Tmem234 |
G |
T |
4: 129,494,500 (GRCm39) |
|
probably benign |
Het |
| Tmem35b |
A |
G |
4: 127,018,266 (GRCm39) |
Q20R |
possibly damaging |
Het |
| Tom1l2 |
G |
A |
11: 60,132,634 (GRCm39) |
H430Y |
probably benign |
Het |
| Tpo |
T |
C |
12: 30,153,289 (GRCm39) |
Y355C |
probably damaging |
Het |
| Tulp2 |
A |
G |
7: 45,166,075 (GRCm39) |
N122S |
possibly damaging |
Het |
| Washc2 |
T |
A |
6: 116,236,111 (GRCm39) |
L1194H |
probably damaging |
Het |
| Xbp1 |
T |
C |
11: 5,471,910 (GRCm39) |
V12A |
probably benign |
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 |
|
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'- AGATGGTTCGCAAGCACCAG -3'
(R):5'- TCCTAAGAGAGCTGTGGAACCAG -3'
Sequencing Primer
(F):5'- GCACCAGCTAGACCCCC -3'
(R):5'- CTGTGGAACCAGAGAAGCTG -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation