Incidental Mutation 'R1172:Cblb'
| ID |
99623 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cblb
|
| Ensembl Gene |
ENSMUSG00000022637 |
| Gene Name |
Casitas B-lineage lymphoma b |
| Synonyms |
Cbl-b |
| MMRRC Submission |
039245-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.208)
|
| Stock # |
R1172 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
51851593-52028410 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 52006603 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153787
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114471]
[ENSMUST00000226593]
[ENSMUST00000227062]
[ENSMUST00000227756]
[ENSMUST00000227879]
|
| AlphaFold |
Q3TTA7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114471
|
| SMART Domains |
Protein: ENSMUSP00000110115
Gene: ENSMUSG00000022637
| 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 benign
Transcript: ENSMUST00000226593
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227062
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227756
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227879
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.5%
|
| Validation Efficiency |
98% (62/63) |
| 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 |
|---|
| Accsl |
A |
T |
2: 93,696,589 (GRCm39) |
|
probably benign |
Het |
| Adam7 |
T |
G |
14: 68,752,370 (GRCm39) |
K371N |
probably damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,705,182 (GRCm39) |
S1543T |
probably damaging |
Het |
| Agbl4 |
A |
T |
4: 111,513,515 (GRCm39) |
|
probably benign |
Het |
| Arid1b |
T |
A |
17: 5,389,575 (GRCm39) |
I1707N |
probably damaging |
Het |
| Atp10a |
T |
C |
7: 58,453,514 (GRCm39) |
V864A |
probably benign |
Het |
| Bivm |
A |
G |
1: 44,165,942 (GRCm39) |
T131A |
probably benign |
Het |
| Bst1 |
A |
G |
5: 43,982,750 (GRCm39) |
|
probably null |
Het |
| C9orf72 |
C |
A |
4: 35,218,630 (GRCm39) |
E76D |
probably damaging |
Het |
| Ccdc28b |
T |
C |
4: 129,514,682 (GRCm39) |
|
probably benign |
Het |
| Cmas |
G |
T |
6: 142,702,604 (GRCm39) |
G36C |
probably benign |
Het |
| Eml6 |
A |
G |
11: 29,699,824 (GRCm39) |
S1771P |
possibly damaging |
Het |
| Epc1 |
A |
C |
18: 6,490,525 (GRCm39) |
Y31D |
probably damaging |
Het |
| Fbn1 |
A |
T |
2: 125,236,607 (GRCm39) |
C358S |
probably benign |
Het |
| Fbxl13 |
A |
T |
5: 21,825,602 (GRCm39) |
|
probably benign |
Het |
| Fermt2 |
T |
C |
14: 45,697,425 (GRCm39) |
D642G |
possibly damaging |
Het |
| Fmnl2 |
A |
T |
2: 52,962,286 (GRCm39) |
N257I |
probably damaging |
Het |
| Fry |
G |
A |
5: 150,404,959 (GRCm39) |
W793* |
probably null |
Het |
| Fsd2 |
T |
C |
7: 81,209,518 (GRCm39) |
D108G |
probably benign |
Het |
| Glipr1l2 |
C |
A |
10: 111,919,371 (GRCm39) |
L31I |
possibly damaging |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
| Gm10801 |
C |
T |
2: 98,494,252 (GRCm39) |
|
probably benign |
Het |
| Gm21718 |
T |
C |
14: 51,553,348 (GRCm39) |
|
noncoding transcript |
Het |
| Gpld1 |
A |
G |
13: 25,141,549 (GRCm39) |
|
probably null |
Het |
| Gtf3c2 |
A |
T |
5: 31,325,419 (GRCm39) |
Y500N |
probably damaging |
Het |
| Hbs1l |
A |
G |
10: 21,180,537 (GRCm39) |
D73G |
probably damaging |
Het |
| Idh1 |
G |
T |
1: 65,200,319 (GRCm39) |
N348K |
probably benign |
Het |
| Kank4 |
T |
C |
4: 98,653,806 (GRCm39) |
Y874C |
probably damaging |
Het |
| Lamc2 |
A |
T |
1: 153,042,033 (GRCm39) |
S34T |
probably damaging |
Het |
| Laptm4a |
T |
C |
12: 8,986,716 (GRCm39) |
V258A |
probably damaging |
Het |
| Lrrc19 |
A |
T |
4: 94,526,626 (GRCm39) |
Y310* |
probably null |
Het |
| Map3k5 |
G |
A |
10: 19,932,394 (GRCm39) |
|
probably benign |
Het |
| Map7 |
G |
A |
10: 20,121,045 (GRCm39) |
E92K |
probably damaging |
Het |
| Mettl24 |
G |
A |
10: 40,613,704 (GRCm39) |
A148T |
probably benign |
Het |
| Mosmo |
A |
G |
7: 120,329,745 (GRCm39) |
Y122C |
probably benign |
Het |
| Ncr1 |
T |
A |
7: 4,341,120 (GRCm39) |
I37N |
probably benign |
Het |
| Nkx3-1 |
T |
C |
14: 69,429,434 (GRCm39) |
S151P |
probably damaging |
Het |
| Npm2 |
T |
A |
14: 70,889,661 (GRCm39) |
K54* |
probably null |
Het |
| Npr1 |
T |
A |
3: 90,368,689 (GRCm39) |
D457V |
probably benign |
Het |
| Nudt21 |
T |
C |
8: 94,757,757 (GRCm39) |
|
probably benign |
Het |
| Pcnt |
A |
T |
10: 76,228,878 (GRCm39) |
|
probably null |
Het |
| Pik3r4 |
G |
T |
9: 105,540,373 (GRCm39) |
G754C |
probably damaging |
Het |
| Rftn2 |
A |
G |
1: 55,250,376 (GRCm39) |
V123A |
probably damaging |
Het |
| Rpa1 |
A |
T |
11: 75,203,219 (GRCm39) |
V392D |
probably damaging |
Het |
| Rxfp2 |
T |
C |
5: 149,975,021 (GRCm39) |
V210A |
probably benign |
Het |
| Slc45a4 |
C |
T |
15: 73,477,278 (GRCm39) |
|
probably benign |
Het |
| Syndig1l |
T |
A |
12: 84,725,942 (GRCm39) |
|
probably null |
Het |
| Tctn1 |
G |
A |
5: 122,389,752 (GRCm39) |
R257* |
probably null |
Het |
| Tenm4 |
A |
T |
7: 96,497,251 (GRCm39) |
E1179V |
probably damaging |
Het |
| Txlnb |
A |
G |
10: 17,718,504 (GRCm39) |
N445S |
probably benign |
Het |
| Tyrp1 |
C |
T |
4: 80,763,105 (GRCm39) |
Q331* |
probably null |
Het |
| Ubap2l |
A |
T |
3: 89,930,807 (GRCm39) |
S413T |
probably benign |
Het |
| Vdr |
A |
T |
15: 97,767,214 (GRCm39) |
Y185N |
probably benign |
Het |
| Vmn2r66 |
G |
T |
7: 84,654,799 (GRCm39) |
D503E |
probably benign |
Het |
| Vmn2r72 |
T |
A |
7: 85,401,152 (GRCm39) |
E89V |
probably damaging |
Het |
| Vmn2r87 |
T |
C |
10: 130,313,453 (GRCm39) |
T438A |
probably benign |
Het |
| Xrcc6 |
A |
G |
15: 81,915,364 (GRCm39) |
D94G |
probably damaging |
Het |
| Ywhaq |
T |
C |
12: 21,445,024 (GRCm39) |
N207S |
probably benign |
Het |
| Zfp185 |
A |
T |
X: 72,042,929 (GRCm39) |
E138D |
possibly damaging |
Het |
| Zfp981 |
G |
A |
4: 146,622,221 (GRCm39) |
S382N |
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 |
|
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 |
|
| Posted On |
2014-01-15 |
Incidental Mutation