Incidental Mutation 'R4134:Cnot11'
| ID |
314791 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cnot11
|
| Ensembl Gene |
ENSMUSG00000003135 |
| Gene Name |
CCR4-NOT transcription complex, subunit 11 |
| Synonyms |
2410015L18Rik, D1Bwg0212e |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.954)
|
| Stock # |
R4134 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
39574782-39585962 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 39576629 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 211
(V211A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125638
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003219]
[ENSMUST00000161515]
[ENSMUST00000195567]
|
| AlphaFold |
Q9CWN7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003219
AA Change: V211A
PolyPhen 2
Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000003219
Gene: ENSMUSG00000003135
AA Change: V211A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
62 |
73 |
N/A |
INTRINSIC |
|
low complexity region
|
234 |
257 |
N/A |
INTRINSIC |
|
Pfam:DUF2363
|
366 |
490 |
1.7e-58 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160145
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161515
AA Change: V211A
PolyPhen 2
Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000125638
Gene: ENSMUSG00000003135
AA Change: V211A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
62 |
73 |
N/A |
INTRINSIC |
|
low complexity region
|
234 |
257 |
N/A |
INTRINSIC |
|
Pfam:DUF2363
|
366 |
491 |
3.3e-57 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195567
|
| SMART Domains |
Protein: ENSMUSP00000141388
Gene: ENSMUSG00000003135
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2363
|
40 |
148 |
3.4e-44 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ces1g |
T |
C |
8: 94,046,500 (GRCm39) |
T342A |
probably benign |
Het |
| Clip2 |
A |
G |
5: 134,521,107 (GRCm39) |
V977A |
probably benign |
Het |
| Dcaf12l1 |
T |
C |
X: 43,878,330 (GRCm39) |
N156S |
probably damaging |
Het |
| Dennd2d |
T |
A |
3: 106,389,977 (GRCm39) |
D2E |
probably benign |
Het |
| F2 |
T |
C |
2: 91,459,553 (GRCm39) |
D410G |
possibly damaging |
Het |
| Gabrb3 |
G |
T |
7: 57,241,036 (GRCm39) |
A5S |
probably benign |
Het |
| Gcnt2 |
T |
A |
13: 41,041,283 (GRCm39) |
N147K |
probably damaging |
Het |
| Greb1l |
T |
C |
18: 10,529,708 (GRCm39) |
|
probably null |
Het |
| Gtdc1 |
A |
G |
2: 44,715,430 (GRCm39) |
W38R |
probably damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Hspg2 |
A |
T |
4: 137,283,968 (GRCm39) |
Q3446L |
probably damaging |
Het |
| Htr5a |
A |
G |
5: 28,047,690 (GRCm39) |
M82V |
probably benign |
Het |
| Itgb4 |
G |
T |
11: 115,897,296 (GRCm39) |
G1454V |
probably benign |
Het |
| Lrrc9 |
T |
C |
12: 72,513,740 (GRCm39) |
S534P |
probably benign |
Het |
| Nkx6-1 |
T |
A |
5: 101,807,371 (GRCm39) |
D337V |
probably damaging |
Het |
| Npm2 |
C |
T |
14: 70,885,822 (GRCm39) |
E128K |
possibly damaging |
Het |
| Nyap2 |
A |
G |
1: 81,218,908 (GRCm39) |
D310G |
probably damaging |
Het |
| Or2l13b |
T |
A |
16: 19,349,452 (GRCm39) |
I73F |
possibly damaging |
Het |
| Or4l1 |
T |
C |
14: 50,166,272 (GRCm39) |
H243R |
probably damaging |
Het |
| Pum1 |
A |
T |
4: 130,491,380 (GRCm39) |
I770F |
probably damaging |
Het |
| Rreb1 |
A |
T |
13: 38,131,099 (GRCm39) |
N1418Y |
probably damaging |
Het |
| Syt9 |
A |
G |
7: 107,035,630 (GRCm39) |
S216G |
probably benign |
Het |
| Tep1 |
G |
A |
14: 51,082,317 (GRCm39) |
H1120Y |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,715,138 (GRCm39) |
|
probably benign |
Het |
| Vmn1r8 |
A |
G |
6: 57,013,705 (GRCm39) |
D252G |
probably benign |
Het |
| Vwa5b1 |
A |
T |
4: 138,321,641 (GRCm39) |
M384K |
possibly damaging |
Het |
| Zfhx2 |
G |
A |
14: 55,302,600 (GRCm39) |
P1795S |
possibly damaging |
Het |
| Zfhx4 |
T |
C |
3: 5,308,687 (GRCm39) |
S638P |
probably damaging |
Het |
| Zfp677 |
A |
G |
17: 21,618,043 (GRCm39) |
T367A |
probably benign |
Het |
| Zfp729a |
C |
A |
13: 67,767,925 (GRCm39) |
C768F |
probably damaging |
Het |
| Zfp810 |
T |
C |
9: 22,190,369 (GRCm39) |
K180E |
probably damaging |
Het |
|
| Other mutations in Cnot11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02337:Cnot11
|
APN |
1 |
39,583,964 (GRCm39) |
splice site |
probably benign |
|
|
R1087:Cnot11
|
UTSW |
1 |
39,579,139 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1398:Cnot11
|
UTSW |
1 |
39,584,261 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3433:Cnot11
|
UTSW |
1 |
39,584,268 (GRCm39) |
splice site |
probably null |
|
|
R4633:Cnot11
|
UTSW |
1 |
39,575,299 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5856:Cnot11
|
UTSW |
1 |
39,576,534 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6841:Cnot11
|
UTSW |
1 |
39,579,148 (GRCm39) |
nonsense |
probably null |
|
|
R6931:Cnot11
|
UTSW |
1 |
39,579,002 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7290:Cnot11
|
UTSW |
1 |
39,579,020 (GRCm39) |
nonsense |
probably null |
|
|
R9251:Cnot11
|
UTSW |
1 |
39,581,587 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9508:Cnot11
|
UTSW |
1 |
39,581,575 (GRCm39) |
missense |
probably damaging |
0.99 |
|
RF007:Cnot11
|
UTSW |
1 |
39,581,575 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Cnot11
|
UTSW |
1 |
39,574,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACCCATTGGCGAGAAACCG -3'
(R):5'- TGGGTGTCAATCAGAAGCACAG -3'
Sequencing Primer
(F):5'- GAAACCGGCATGCATTCTTATTTGC -3'
(R):5'- AGTTAGAGGCCAGCATGCTCTAC -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation