Incidental Mutation 'R4074:Cnot10'
| ID |
316474 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cnot10
|
| Ensembl Gene |
ENSMUSG00000056167 |
| Gene Name |
CCR4-NOT transcription complex, subunit 10 |
| Synonyms |
2600001P13Rik |
| MMRRC Submission |
040855-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4074 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
114414946-114469252 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 114452015 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 254
(F254L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064840
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070117]
[ENSMUST00000213955]
[ENSMUST00000215155]
[ENSMUST00000216785]
[ENSMUST00000217148]
|
| AlphaFold |
Q8BH15 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000070117
AA Change: F254L
PolyPhen 2
Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000064840
Gene: ENSMUSG00000056167
AA Change: F254L
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:TPR
|
27 |
60 |
2e-10 |
BLAST |
|
coiled coil region
|
73 |
107 |
N/A |
INTRINSIC |
|
TPR
|
110 |
143 |
4.32e1 |
SMART |
|
low complexity region
|
182 |
198 |
N/A |
INTRINSIC |
|
TPR
|
293 |
326 |
3.37e-2 |
SMART |
|
TPR
|
355 |
388 |
6.75e1 |
SMART |
|
low complexity region
|
496 |
508 |
N/A |
INTRINSIC |
|
TPR
|
643 |
676 |
7.87e0 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213539
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213955
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215155
AA Change: F254L
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215701
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216785
AA Change: F254L
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000217148
AA Change: F254L
PolyPhen 2
Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217296
|
| Meta Mutation Damage Score |
0.3200 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
95% (63/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
T |
C |
2: 19,485,401 (GRCm39) |
E422G |
probably damaging |
Het |
| Ace3 |
A |
G |
11: 105,888,040 (GRCm39) |
Y287C |
probably damaging |
Het |
| Adam34l |
A |
T |
8: 44,079,387 (GRCm39) |
F279Y |
probably damaging |
Het |
| Albfm1 |
T |
A |
5: 90,740,727 (GRCm39) |
|
probably null |
Het |
| Arfgap3 |
C |
T |
15: 83,187,330 (GRCm39) |
A510T |
probably damaging |
Het |
| Atg12 |
A |
G |
18: 46,870,491 (GRCm39) |
F92L |
probably benign |
Het |
| Axl |
A |
G |
7: 25,463,336 (GRCm39) |
|
probably benign |
Het |
| Chgb |
C |
A |
2: 132,635,847 (GRCm39) |
D596E |
possibly damaging |
Het |
| Cmtr2 |
T |
A |
8: 110,947,849 (GRCm39) |
F53Y |
possibly damaging |
Het |
| Crb2 |
G |
T |
2: 37,676,855 (GRCm39) |
C251F |
probably damaging |
Het |
| Crybg3 |
A |
T |
16: 59,376,120 (GRCm39) |
|
probably benign |
Het |
| Cytl1 |
A |
G |
5: 37,892,940 (GRCm39) |
I17V |
unknown |
Het |
| D930020B18Rik |
A |
G |
10: 121,492,123 (GRCm39) |
|
probably benign |
Het |
| Depp1 |
A |
G |
6: 116,629,029 (GRCm39) |
N124S |
possibly damaging |
Het |
| Dnah11 |
A |
G |
12: 118,009,413 (GRCm39) |
M2083T |
probably benign |
Het |
| Dst |
A |
G |
1: 34,231,350 (GRCm39) |
E2656G |
probably benign |
Het |
| Dst |
T |
C |
1: 34,267,542 (GRCm39) |
F4995L |
probably damaging |
Het |
| Egf |
C |
T |
3: 129,529,618 (GRCm39) |
R264Q |
probably benign |
Het |
| Eps15l1 |
A |
G |
8: 73,134,128 (GRCm39) |
I482T |
probably damaging |
Het |
| Eqtn |
A |
G |
4: 94,808,199 (GRCm39) |
I201T |
possibly damaging |
Het |
| Ero1a |
A |
T |
14: 45,529,893 (GRCm39) |
|
probably null |
Het |
| Etl4 |
T |
C |
2: 20,814,030 (GRCm39) |
|
probably benign |
Het |
| Fcho1 |
T |
C |
8: 72,163,013 (GRCm39) |
H672R |
probably damaging |
Het |
| Glt6d1 |
T |
C |
2: 25,684,139 (GRCm39) |
D289G |
probably damaging |
Het |
| Gm5134 |
T |
A |
10: 75,844,365 (GRCm39) |
W574R |
probably damaging |
Het |
| Gm5414 |
T |
C |
15: 101,533,988 (GRCm39) |
N332D |
probably benign |
Het |
| Gnb3 |
T |
A |
6: 124,813,942 (GRCm39) |
E215D |
probably benign |
Het |
| Ighv1-30 |
C |
T |
12: 114,781,021 (GRCm39) |
|
noncoding transcript |
Het |
| Ighv1-4 |
A |
G |
12: 114,451,147 (GRCm39) |
S15P |
possibly damaging |
Het |
| Igkv1-133 |
T |
G |
6: 67,702,505 (GRCm39) |
Y74* |
probably null |
Het |
| Il17f |
G |
A |
1: 20,847,987 (GRCm39) |
|
probably benign |
Het |
| Itpr2 |
C |
T |
6: 146,274,742 (GRCm39) |
|
probably null |
Het |
| Krtap31-1 |
T |
C |
11: 99,799,058 (GRCm39) |
I87T |
possibly damaging |
Het |
| Lilra6 |
A |
T |
7: 3,917,889 (GRCm39) |
F85Y |
probably benign |
Het |
| Lrig3 |
C |
T |
10: 125,849,277 (GRCm39) |
T999I |
probably benign |
Het |
| Myh7b |
T |
C |
2: 155,460,678 (GRCm39) |
I277T |
probably damaging |
Het |
| Myo3b |
T |
C |
2: 70,119,808 (GRCm39) |
F984S |
probably damaging |
Het |
| Naip5 |
G |
A |
13: 100,382,572 (GRCm39) |
R46W |
probably damaging |
Het |
| Nup205 |
T |
A |
6: 35,168,975 (GRCm39) |
|
probably null |
Het |
| Or52e18 |
A |
T |
7: 104,609,923 (GRCm39) |
N5K |
probably damaging |
Het |
| Pde11a |
C |
T |
2: 76,168,242 (GRCm39) |
R237H |
probably damaging |
Het |
| Pdk4 |
T |
C |
6: 5,491,865 (GRCm39) |
N69S |
probably benign |
Het |
| Pot1a |
T |
C |
6: 25,752,356 (GRCm39) |
|
probably null |
Het |
| Pramel33 |
A |
T |
5: 93,633,057 (GRCm39) |
M50K |
probably damaging |
Het |
| Psg23 |
A |
T |
7: 18,341,043 (GRCm39) |
S404T |
possibly damaging |
Het |
| Rev1 |
T |
G |
1: 38,093,319 (GRCm39) |
K1075T |
possibly damaging |
Het |
| Rrbp1 |
T |
G |
2: 143,805,030 (GRCm39) |
Q1045P |
probably benign |
Het |
| Scg2 |
A |
C |
1: 79,414,574 (GRCm39) |
F50V |
probably damaging |
Het |
| Sel1l3 |
A |
G |
5: 53,311,629 (GRCm39) |
Y619H |
probably damaging |
Het |
| Slco1a5 |
A |
T |
6: 142,213,950 (GRCm39) |
I57K |
possibly damaging |
Het |
| Srp72 |
C |
A |
5: 77,146,098 (GRCm39) |
T633K |
probably benign |
Het |
| Swt1 |
A |
G |
1: 151,270,520 (GRCm39) |
V565A |
probably benign |
Het |
| Tesk1 |
A |
G |
4: 43,443,606 (GRCm39) |
I58V |
possibly damaging |
Het |
| Tm2d3 |
T |
A |
7: 65,347,498 (GRCm39) |
L49* |
probably null |
Het |
| Tmprss11e |
T |
C |
5: 86,863,502 (GRCm39) |
T188A |
possibly damaging |
Het |
| Tnxb |
A |
G |
17: 34,890,845 (GRCm39) |
N396S |
probably benign |
Het |
| Tuba8 |
T |
A |
6: 121,199,756 (GRCm39) |
S147T |
probably damaging |
Het |
| Usp8 |
A |
G |
2: 126,594,290 (GRCm39) |
D822G |
probably damaging |
Het |
| Vmn2r13 |
T |
A |
5: 109,304,566 (GRCm39) |
I622F |
probably damaging |
Het |
| Vmn2r24 |
A |
T |
6: 123,764,374 (GRCm39) |
H417L |
possibly damaging |
Het |
| Zfp608 |
A |
T |
18: 55,031,180 (GRCm39) |
V920E |
probably damaging |
Het |
| Zmym2 |
T |
C |
14: 57,140,461 (GRCm39) |
L100P |
probably damaging |
Het |
|
| Other mutations in Cnot10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01313:Cnot10
|
APN |
9 |
114,460,923 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02004:Cnot10
|
APN |
9 |
114,451,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03297:Cnot10
|
APN |
9 |
114,427,784 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
BB003:Cnot10
|
UTSW |
9 |
114,446,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB013:Cnot10
|
UTSW |
9 |
114,446,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0348:Cnot10
|
UTSW |
9 |
114,427,838 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0390:Cnot10
|
UTSW |
9 |
114,458,218 (GRCm39) |
nonsense |
probably null |
|
|
R1256:Cnot10
|
UTSW |
9 |
114,439,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1471:Cnot10
|
UTSW |
9 |
114,420,619 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1607:Cnot10
|
UTSW |
9 |
114,458,163 (GRCm39) |
nonsense |
probably null |
|
|
R1721:Cnot10
|
UTSW |
9 |
114,444,067 (GRCm39) |
missense |
probably benign |
|
|
R1741:Cnot10
|
UTSW |
9 |
114,426,892 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2116:Cnot10
|
UTSW |
9 |
114,455,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4073:Cnot10
|
UTSW |
9 |
114,452,015 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4075:Cnot10
|
UTSW |
9 |
114,452,015 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4365:Cnot10
|
UTSW |
9 |
114,460,949 (GRCm39) |
nonsense |
probably null |
|
|
R4383:Cnot10
|
UTSW |
9 |
114,460,949 (GRCm39) |
nonsense |
probably null |
|
|
R4385:Cnot10
|
UTSW |
9 |
114,460,949 (GRCm39) |
nonsense |
probably null |
|
|
R4398:Cnot10
|
UTSW |
9 |
114,460,949 (GRCm39) |
nonsense |
probably null |
|
|
R4423:Cnot10
|
UTSW |
9 |
114,446,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4859:Cnot10
|
UTSW |
9 |
114,456,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4916:Cnot10
|
UTSW |
9 |
114,458,202 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4927:Cnot10
|
UTSW |
9 |
114,447,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5153:Cnot10
|
UTSW |
9 |
114,442,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5677:Cnot10
|
UTSW |
9 |
114,458,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5702:Cnot10
|
UTSW |
9 |
114,458,078 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5790:Cnot10
|
UTSW |
9 |
114,454,985 (GRCm39) |
splice site |
probably null |
|
|
R6190:Cnot10
|
UTSW |
9 |
114,461,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6353:Cnot10
|
UTSW |
9 |
114,426,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6463:Cnot10
|
UTSW |
9 |
114,454,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6819:Cnot10
|
UTSW |
9 |
114,444,123 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6849:Cnot10
|
UTSW |
9 |
114,461,004 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6875:Cnot10
|
UTSW |
9 |
114,444,175 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7071:Cnot10
|
UTSW |
9 |
114,446,787 (GRCm39) |
splice site |
probably null |
|
|
R7408:Cnot10
|
UTSW |
9 |
114,460,894 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7412:Cnot10
|
UTSW |
9 |
114,454,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7645:Cnot10
|
UTSW |
9 |
114,442,705 (GRCm39) |
missense |
probably benign |
|
|
R7706:Cnot10
|
UTSW |
9 |
114,422,506 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7926:Cnot10
|
UTSW |
9 |
114,446,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8187:Cnot10
|
UTSW |
9 |
114,426,556 (GRCm39) |
nonsense |
probably null |
|
|
R8322:Cnot10
|
UTSW |
9 |
114,456,537 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8412:Cnot10
|
UTSW |
9 |
114,439,738 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8904:Cnot10
|
UTSW |
9 |
114,430,423 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9340:Cnot10
|
UTSW |
9 |
114,460,897 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9691:Cnot10
|
UTSW |
9 |
114,420,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0062:Cnot10
|
UTSW |
9 |
114,444,202 (GRCm39) |
splice site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CACTCTGAAGAATGGGATGTGTAG -3'
(R):5'- TTAAGGTGGTCACTCACAGGC -3'
Sequencing Primer
(F):5'- TGTGTAGGTGGGAGGAACC -3'
(R):5'- TAAGGTGGTCACTCACAGGCTTTTC -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation