Incidental Mutation 'R6667:Cblb'
| ID |
527041 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cblb
|
| Ensembl Gene |
ENSMUSG00000022637 |
| Gene Name |
Casitas B-lineage lymphoma b |
| Synonyms |
Cbl-b |
| MMRRC Submission |
044787-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.188)
|
| Stock # |
R6667 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
51851593-52028410 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 51973007 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 446
(M446K)
|
| 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: M446K
PolyPhen 2
Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000110115
Gene: ENSMUSG00000022637
AA Change: M446K
| 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: M446K
PolyPhen 2
Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227062
AA Change: M446K
PolyPhen 2
Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227756
AA Change: M294K
PolyPhen 2
Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227879
AA Change: M446K
PolyPhen 2
Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228247
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.6%
|
| Validation Efficiency |
98% (41/42) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3100002H09Rik |
G |
T |
4: 124,504,435 (GRCm39) |
A39E |
probably damaging |
Het |
| Agtr1b |
T |
A |
3: 20,369,913 (GRCm39) |
N231I |
possibly damaging |
Het |
| Alpk2 |
T |
C |
18: 65,440,811 (GRCm39) |
E661G |
probably damaging |
Het |
| Ankrd26 |
C |
T |
6: 118,484,749 (GRCm39) |
S1496N |
probably benign |
Het |
| Asah2 |
T |
C |
19: 31,972,758 (GRCm39) |
N659S |
probably benign |
Het |
| Atp12a |
T |
C |
14: 56,621,645 (GRCm39) |
V760A |
possibly damaging |
Het |
| Casp2 |
T |
C |
6: 42,256,770 (GRCm39) |
C343R |
probably damaging |
Het |
| Cipc |
T |
C |
12: 87,008,864 (GRCm39) |
V241A |
probably benign |
Het |
| Ddit4l |
A |
G |
3: 137,331,882 (GRCm39) |
K83E |
probably benign |
Het |
| Eif1ad10 |
A |
T |
12: 88,216,475 (GRCm39) |
D132E |
unknown |
Het |
| Epc2 |
A |
G |
2: 49,412,681 (GRCm39) |
T220A |
probably damaging |
Het |
| Epha5 |
T |
C |
5: 84,219,050 (GRCm39) |
D741G |
probably damaging |
Het |
| Flg2 |
A |
T |
3: 93,109,068 (GRCm39) |
R365S |
possibly damaging |
Het |
| Ggn |
A |
T |
7: 28,872,093 (GRCm39) |
H491L |
possibly damaging |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Ighv6-4 |
A |
G |
12: 114,370,152 (GRCm39) |
V100A |
probably benign |
Het |
| Invs |
A |
T |
4: 48,402,870 (GRCm39) |
Y501F |
possibly damaging |
Het |
| Iqcm |
G |
T |
8: 76,479,980 (GRCm39) |
G313W |
probably damaging |
Het |
| Jph2 |
A |
G |
2: 163,218,206 (GRCm39) |
S157P |
probably damaging |
Het |
| Mast4 |
T |
C |
13: 102,874,004 (GRCm39) |
E1596G |
probably damaging |
Het |
| Mllt6 |
T |
A |
11: 97,567,760 (GRCm39) |
L759Q |
probably damaging |
Het |
| Nalcn |
A |
G |
14: 123,558,735 (GRCm39) |
L837P |
probably damaging |
Het |
| Neb |
G |
A |
2: 52,037,201 (GRCm39) |
T6836I |
probably damaging |
Het |
| Nol12 |
T |
A |
15: 78,824,280 (GRCm39) |
D133E |
probably benign |
Het |
| Or5w13 |
A |
G |
2: 87,523,914 (GRCm39) |
V104A |
probably benign |
Het |
| Oxtr |
C |
A |
6: 112,454,060 (GRCm39) |
|
probably benign |
Het |
| Pcmt1 |
A |
G |
10: 7,538,913 (GRCm39) |
L38P |
probably damaging |
Het |
| Pik3r2 |
T |
C |
8: 71,221,817 (GRCm39) |
Y617C |
probably damaging |
Het |
| Potefam3b |
T |
C |
8: 21,161,955 (GRCm39) |
S267P |
probably benign |
Het |
| Prl7a2 |
T |
C |
13: 27,845,024 (GRCm39) |
N121D |
probably benign |
Het |
| Pvr |
G |
T |
7: 19,639,727 (GRCm39) |
Q380K |
probably benign |
Het |
| Rtn2 |
A |
G |
7: 19,021,184 (GRCm39) |
E188G |
probably benign |
Het |
| Setd4 |
C |
A |
16: 93,386,918 (GRCm39) |
R260L |
probably benign |
Het |
| Six5 |
A |
G |
7: 18,830,494 (GRCm39) |
N374D |
probably benign |
Het |
| Slc9b1 |
T |
C |
3: 135,077,726 (GRCm39) |
I140T |
probably damaging |
Het |
| Supt16 |
A |
G |
14: 52,409,520 (GRCm39) |
F797L |
probably damaging |
Het |
| Tbata |
T |
C |
10: 61,021,142 (GRCm39) |
L262P |
probably damaging |
Het |
| Tti1 |
A |
T |
2: 157,850,347 (GRCm39) |
C297* |
probably null |
Het |
| Ush1c |
C |
A |
7: 45,875,048 (GRCm39) |
G139C |
probably damaging |
Het |
| Vmn1r1 |
C |
T |
1: 181,985,342 (GRCm39) |
V108I |
probably benign |
Het |
| Vmn2r116 |
C |
T |
17: 23,620,066 (GRCm39) |
T600I |
probably damaging |
Het |
| Zfp764l1 |
A |
G |
7: 126,992,595 (GRCm39) |
M5T |
probably benign |
Het |
| Zfp873 |
A |
G |
10: 81,896,423 (GRCm39) |
T422A |
probably benign |
Het |
| Zfp943 |
G |
A |
17: 22,211,889 (GRCm39) |
C325Y |
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 |
|
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'- CCATCATTGATCCACAGACTTG -3'
(R):5'- TTTCTCAGCCAAGGACACACATAG -3'
Sequencing Primer
(F):5'- CAGACTTCTCTAGATTGGTTTGAGCC -3'
(R):5'- GGACACACATAGAGACTAATTGATTG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation