Incidental Mutation 'R5981:Cnot1'
ID |
481415 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cnot1
|
Ensembl Gene |
ENSMUSG00000036550 |
Gene Name |
CCR4-NOT transcription complex, subunit 1 |
Synonyms |
6030411K04Rik |
MMRRC Submission |
043250-MU
|
Accession Numbers |
|
Is this an essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5981 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
95719451-95807464 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 95788665 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 23
(K23E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148735
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068452]
[ENSMUST00000098473]
[ENSMUST00000211887]
[ENSMUST00000212323]
[ENSMUST00000213006]
[ENSMUST00000213046]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000068452
AA Change: K23E
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000063565 Gene: ENSMUSG00000036550 AA Change: K23E
Domain | Start | End | E-Value | Type |
low complexity region
|
181 |
189 |
N/A |
INTRINSIC |
low complexity region
|
687 |
698 |
N/A |
INTRINSIC |
low complexity region
|
779 |
796 |
N/A |
INTRINSIC |
PDB:4J8S|A
|
798 |
999 |
1e-137 |
PDB |
low complexity region
|
1011 |
1028 |
N/A |
INTRINSIC |
low complexity region
|
1031 |
1055 |
N/A |
INTRINSIC |
PDB:4CT4|C
|
1056 |
1295 |
1e-148 |
PDB |
low complexity region
|
1296 |
1308 |
N/A |
INTRINSIC |
low complexity region
|
1328 |
1345 |
N/A |
INTRINSIC |
Pfam:DUF3819
|
1381 |
1530 |
2.5e-56 |
PFAM |
low complexity region
|
1634 |
1648 |
N/A |
INTRINSIC |
Pfam:Not1
|
1991 |
2305 |
2.4e-125 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000098473
AA Change: K23E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000096073 Gene: ENSMUSG00000036550 AA Change: K23E
Domain | Start | End | E-Value | Type |
low complexity region
|
181 |
189 |
N/A |
INTRINSIC |
Pfam:CNOT1_HEAT
|
500 |
656 |
2.4e-57 |
PFAM |
low complexity region
|
687 |
698 |
N/A |
INTRINSIC |
low complexity region
|
779 |
796 |
N/A |
INTRINSIC |
Pfam:CNOT1_TTP_bind
|
812 |
1004 |
1.4e-87 |
PFAM |
low complexity region
|
1016 |
1033 |
N/A |
INTRINSIC |
low complexity region
|
1036 |
1060 |
N/A |
INTRINSIC |
Pfam:CNOT1_CAF1_bind
|
1087 |
1313 |
5.7e-99 |
PFAM |
low complexity region
|
1333 |
1350 |
N/A |
INTRINSIC |
Pfam:DUF3819
|
1387 |
1534 |
2.3e-57 |
PFAM |
low complexity region
|
1639 |
1653 |
N/A |
INTRINSIC |
Pfam:Not1
|
1998 |
2357 |
5.7e-157 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000211887
AA Change: K23E
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212228
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000212323
AA Change: K23E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000213006
AA Change: K23E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
unknown
Transcript: ENSMUST00000213046
AA Change: K23E
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.5%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice hmozygous for a conditional allele activated in cardiomyocytes exhibit postnatal lethality, decreased cardiac muscle contractility, prolonged QT interval and cardiac muscle cell death. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ccr3 |
G |
A |
9: 124,028,783 |
G52S |
probably damaging |
Het |
Cep192 |
T |
C |
18: 67,860,590 |
L1992P |
probably damaging |
Het |
Col12a1 |
G |
A |
9: 79,678,506 |
R1224C |
probably damaging |
Het |
Cox7c |
A |
T |
13: 86,046,661 |
S5R |
possibly damaging |
Het |
Eps8 |
A |
G |
6: 137,482,210 |
V765A |
probably damaging |
Het |
Frg1 |
T |
C |
8: 41,410,270 |
D104G |
possibly damaging |
Het |
Gm11032 |
T |
C |
11: 4,621,697 |
V34A |
probably benign |
Het |
Gm5538 |
T |
C |
3: 59,751,878 |
Y251H |
probably benign |
Het |
Hid1 |
G |
A |
11: 115,350,948 |
T612I |
possibly damaging |
Het |
Hivep1 |
C |
T |
13: 42,160,188 |
T1968I |
probably damaging |
Het |
Mctp1 |
A |
G |
13: 76,757,110 |
D444G |
probably damaging |
Het |
Ms4a1 |
T |
C |
19: 11,251,816 |
E242G |
probably benign |
Het |
Mx1 |
T |
C |
16: 97,454,205 |
D216G |
probably damaging |
Het |
Panx3 |
A |
G |
9: 37,668,881 |
S59P |
possibly damaging |
Het |
Pcdhgb1 |
A |
G |
18: 37,681,854 |
D466G |
probably damaging |
Het |
Plg |
T |
C |
17: 12,378,718 |
|
probably null |
Het |
Prpf4b |
T |
C |
13: 34,886,710 |
S427P |
probably benign |
Het |
Rbm44 |
T |
C |
1: 91,152,689 |
S166P |
possibly damaging |
Het |
Recql |
A |
G |
6: 142,372,878 |
L213P |
probably damaging |
Het |
Rwdd1 |
A |
G |
10: 34,009,085 |
Y60H |
probably damaging |
Het |
Sult1b1 |
A |
C |
5: 87,534,957 |
I43R |
probably damaging |
Het |
Trak2 |
A |
T |
1: 58,908,690 |
V597E |
probably benign |
Het |
Usp17lb |
T |
A |
7: 104,841,187 |
I177F |
probably damaging |
Het |
Zfp410 |
A |
G |
12: 84,331,640 |
E193G |
probably benign |
Het |
|
Other mutations in Cnot1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00516:Cnot1
|
APN |
8 |
95726079 |
missense |
probably damaging |
1.00 |
IGL01340:Cnot1
|
APN |
8 |
95760537 |
missense |
probably damaging |
1.00 |
IGL01457:Cnot1
|
APN |
8 |
95741009 |
missense |
probably damaging |
1.00 |
IGL01505:Cnot1
|
APN |
8 |
95728718 |
missense |
probably damaging |
0.98 |
IGL02401:Cnot1
|
APN |
8 |
95756133 |
missense |
possibly damaging |
0.95 |
IGL02693:Cnot1
|
APN |
8 |
95773485 |
missense |
probably damaging |
1.00 |
IGL02696:Cnot1
|
APN |
8 |
95745017 |
missense |
probably benign |
0.00 |
IGL02754:Cnot1
|
APN |
8 |
95755078 |
missense |
probably benign |
0.03 |
IGL03092:Cnot1
|
APN |
8 |
95769615 |
intron |
probably benign |
|
IGL03174:Cnot1
|
APN |
8 |
95761355 |
missense |
probably damaging |
1.00 |
IGL03310:Cnot1
|
APN |
8 |
95735680 |
splice site |
probably benign |
|
IGL03371:Cnot1
|
APN |
8 |
95774716 |
missense |
possibly damaging |
0.85 |
Affiliate
|
UTSW |
8 |
95765125 |
missense |
probably damaging |
0.99 |
Barge
|
UTSW |
8 |
95734129 |
missense |
probably benign |
0.13 |
Byproduct
|
UTSW |
8 |
95745647 |
frame shift |
probably null |
|
Chairman
|
UTSW |
8 |
95765027 |
missense |
possibly damaging |
0.95 |
cohort
|
UTSW |
8 |
95735749 |
missense |
probably damaging |
0.99 |
Director
|
UTSW |
8 |
95765062 |
missense |
probably benign |
0.15 |
kowloon
|
UTSW |
8 |
95788658 |
missense |
probably damaging |
1.00 |
Quorum
|
UTSW |
8 |
95726118 |
missense |
probably damaging |
1.00 |
tugboat
|
UTSW |
8 |
95773618 |
missense |
probably damaging |
0.99 |
Xiao
|
UTSW |
8 |
95730420 |
missense |
probably damaging |
1.00 |
BB001:Cnot1
|
UTSW |
8 |
95745647 |
frame shift |
probably null |
|
BB003:Cnot1
|
UTSW |
8 |
95745647 |
frame shift |
probably null |
|
BB011:Cnot1
|
UTSW |
8 |
95745647 |
frame shift |
probably null |
|
BB013:Cnot1
|
UTSW |
8 |
95745647 |
frame shift |
probably null |
|
R0008:Cnot1
|
UTSW |
8 |
95761341 |
missense |
probably damaging |
1.00 |
R0008:Cnot1
|
UTSW |
8 |
95761341 |
missense |
probably damaging |
1.00 |
R0091:Cnot1
|
UTSW |
8 |
95763144 |
missense |
probably damaging |
1.00 |
R0335:Cnot1
|
UTSW |
8 |
95772000 |
missense |
probably benign |
0.02 |
R0409:Cnot1
|
UTSW |
8 |
95748855 |
missense |
probably damaging |
0.96 |
R0445:Cnot1
|
UTSW |
8 |
95760208 |
missense |
probably damaging |
1.00 |
R1505:Cnot1
|
UTSW |
8 |
95728667 |
missense |
probably damaging |
1.00 |
R1517:Cnot1
|
UTSW |
8 |
95743213 |
missense |
probably benign |
0.38 |
R1640:Cnot1
|
UTSW |
8 |
95769832 |
missense |
probably damaging |
0.98 |
R1737:Cnot1
|
UTSW |
8 |
95748276 |
missense |
probably damaging |
0.98 |
R1755:Cnot1
|
UTSW |
8 |
95724577 |
missense |
probably damaging |
1.00 |
R1901:Cnot1
|
UTSW |
8 |
95743121 |
missense |
possibly damaging |
0.50 |
R1902:Cnot1
|
UTSW |
8 |
95743121 |
missense |
possibly damaging |
0.50 |
R1903:Cnot1
|
UTSW |
8 |
95743121 |
missense |
possibly damaging |
0.50 |
R1988:Cnot1
|
UTSW |
8 |
95741944 |
missense |
possibly damaging |
0.89 |
R2051:Cnot1
|
UTSW |
8 |
95724593 |
missense |
possibly damaging |
0.47 |
R2054:Cnot1
|
UTSW |
8 |
95739841 |
missense |
possibly damaging |
0.55 |
R2072:Cnot1
|
UTSW |
8 |
95739833 |
missense |
possibly damaging |
0.89 |
R2074:Cnot1
|
UTSW |
8 |
95739833 |
missense |
possibly damaging |
0.89 |
R2075:Cnot1
|
UTSW |
8 |
95739833 |
missense |
possibly damaging |
0.89 |
R2093:Cnot1
|
UTSW |
8 |
95775358 |
missense |
probably damaging |
1.00 |
R2116:Cnot1
|
UTSW |
8 |
95726153 |
missense |
probably damaging |
1.00 |
R2191:Cnot1
|
UTSW |
8 |
95761426 |
missense |
probably damaging |
0.98 |
R2238:Cnot1
|
UTSW |
8 |
95769521 |
missense |
probably benign |
0.04 |
R2239:Cnot1
|
UTSW |
8 |
95769521 |
missense |
probably benign |
0.04 |
R2251:Cnot1
|
UTSW |
8 |
95763186 |
missense |
probably benign |
0.00 |
R2252:Cnot1
|
UTSW |
8 |
95763186 |
missense |
probably benign |
0.00 |
R2253:Cnot1
|
UTSW |
8 |
95763186 |
missense |
probably benign |
0.00 |
R2315:Cnot1
|
UTSW |
8 |
95749062 |
missense |
probably damaging |
1.00 |
R2431:Cnot1
|
UTSW |
8 |
95774652 |
missense |
probably damaging |
1.00 |
R2988:Cnot1
|
UTSW |
8 |
95744278 |
missense |
possibly damaging |
0.80 |
R2989:Cnot1
|
UTSW |
8 |
95744278 |
missense |
possibly damaging |
0.80 |
R3108:Cnot1
|
UTSW |
8 |
95735749 |
missense |
probably damaging |
0.99 |
R3109:Cnot1
|
UTSW |
8 |
95735749 |
missense |
probably damaging |
0.99 |
R3114:Cnot1
|
UTSW |
8 |
95744278 |
missense |
possibly damaging |
0.80 |
R3115:Cnot1
|
UTSW |
8 |
95744278 |
missense |
possibly damaging |
0.80 |
R3153:Cnot1
|
UTSW |
8 |
95744278 |
missense |
possibly damaging |
0.80 |
R3154:Cnot1
|
UTSW |
8 |
95744278 |
missense |
possibly damaging |
0.80 |
R4112:Cnot1
|
UTSW |
8 |
95773618 |
missense |
probably damaging |
0.99 |
R4359:Cnot1
|
UTSW |
8 |
95739848 |
missense |
probably damaging |
1.00 |
R4382:Cnot1
|
UTSW |
8 |
95769779 |
missense |
probably damaging |
0.97 |
R4747:Cnot1
|
UTSW |
8 |
95774682 |
missense |
probably benign |
0.27 |
R4910:Cnot1
|
UTSW |
8 |
95733231 |
missense |
probably benign |
0.43 |
R4913:Cnot1
|
UTSW |
8 |
95763067 |
missense |
possibly damaging |
0.63 |
R4971:Cnot1
|
UTSW |
8 |
95721626 |
missense |
probably damaging |
1.00 |
R5056:Cnot1
|
UTSW |
8 |
95741008 |
missense |
probably damaging |
1.00 |
R5092:Cnot1
|
UTSW |
8 |
95752768 |
missense |
possibly damaging |
0.91 |
R5101:Cnot1
|
UTSW |
8 |
95760187 |
missense |
possibly damaging |
0.90 |
R5498:Cnot1
|
UTSW |
8 |
95757355 |
missense |
possibly damaging |
0.92 |
R5719:Cnot1
|
UTSW |
8 |
95744296 |
missense |
possibly damaging |
0.92 |
R5850:Cnot1
|
UTSW |
8 |
95734147 |
nonsense |
probably null |
|
R5956:Cnot1
|
UTSW |
8 |
95754978 |
critical splice donor site |
probably null |
|
R6093:Cnot1
|
UTSW |
8 |
95748894 |
missense |
probably benign |
0.03 |
R6108:Cnot1
|
UTSW |
8 |
95730420 |
missense |
probably damaging |
1.00 |
R6261:Cnot1
|
UTSW |
8 |
95741921 |
missense |
probably benign |
0.00 |
R6632:Cnot1
|
UTSW |
8 |
95773267 |
intron |
probably benign |
|
R6882:Cnot1
|
UTSW |
8 |
95720426 |
missense |
possibly damaging |
0.85 |
R6966:Cnot1
|
UTSW |
8 |
95724532 |
missense |
probably damaging |
1.00 |
R6985:Cnot1
|
UTSW |
8 |
95734129 |
missense |
probably benign |
0.13 |
R7210:Cnot1
|
UTSW |
8 |
95788658 |
missense |
probably damaging |
1.00 |
R7410:Cnot1
|
UTSW |
8 |
95733159 |
missense |
possibly damaging |
0.77 |
R7623:Cnot1
|
UTSW |
8 |
95727648 |
missense |
probably damaging |
1.00 |
R7624:Cnot1
|
UTSW |
8 |
95751819 |
missense |
probably damaging |
1.00 |
R7695:Cnot1
|
UTSW |
8 |
95770632 |
missense |
probably benign |
0.03 |
R7703:Cnot1
|
UTSW |
8 |
95760098 |
critical splice donor site |
probably null |
|
R7771:Cnot1
|
UTSW |
8 |
95765125 |
missense |
probably damaging |
0.99 |
R7800:Cnot1
|
UTSW |
8 |
95765062 |
missense |
probably benign |
0.15 |
R7809:Cnot1
|
UTSW |
8 |
95751778 |
missense |
probably damaging |
1.00 |
R7857:Cnot1
|
UTSW |
8 |
95745647 |
frame shift |
probably null |
|
R7914:Cnot1
|
UTSW |
8 |
95745647 |
frame shift |
probably null |
|
R7924:Cnot1
|
UTSW |
8 |
95745647 |
frame shift |
probably null |
|
R7926:Cnot1
|
UTSW |
8 |
95745647 |
frame shift |
probably null |
|
R7981:Cnot1
|
UTSW |
8 |
95763169 |
missense |
probably damaging |
1.00 |
R8004:Cnot1
|
UTSW |
8 |
95752752 |
missense |
probably benign |
0.03 |
R8061:Cnot1
|
UTSW |
8 |
95765027 |
missense |
possibly damaging |
0.95 |
R8185:Cnot1
|
UTSW |
8 |
95761351 |
missense |
probably damaging |
1.00 |
R8269:Cnot1
|
UTSW |
8 |
95751761 |
missense |
probably damaging |
1.00 |
R8306:Cnot1
|
UTSW |
8 |
95747021 |
missense |
probably benign |
0.05 |
R8322:Cnot1
|
UTSW |
8 |
95769844 |
missense |
probably benign |
0.00 |
R8427:Cnot1
|
UTSW |
8 |
95734324 |
missense |
probably benign |
0.01 |
R8723:Cnot1
|
UTSW |
8 |
95736279 |
missense |
probably benign |
0.00 |
R8934:Cnot1
|
UTSW |
8 |
95765067 |
missense |
probably benign |
0.04 |
R9025:Cnot1
|
UTSW |
8 |
95749032 |
missense |
probably benign |
|
R9179:Cnot1
|
UTSW |
8 |
95773426 |
missense |
probably benign |
0.16 |
R9280:Cnot1
|
UTSW |
8 |
95770599 |
missense |
probably benign |
0.15 |
R9285:Cnot1
|
UTSW |
8 |
95726118 |
missense |
probably damaging |
1.00 |
R9299:Cnot1
|
UTSW |
8 |
95741820 |
missense |
probably damaging |
1.00 |
R9337:Cnot1
|
UTSW |
8 |
95741820 |
missense |
probably damaging |
1.00 |
R9480:Cnot1
|
UTSW |
8 |
95770710 |
missense |
possibly damaging |
0.94 |
R9548:Cnot1
|
UTSW |
8 |
95756226 |
missense |
probably benign |
0.02 |
R9601:Cnot1
|
UTSW |
8 |
95756207 |
missense |
probably benign |
0.02 |
R9629:Cnot1
|
UTSW |
8 |
95729246 |
missense |
probably damaging |
0.98 |
R9752:Cnot1
|
UTSW |
8 |
95761391 |
missense |
probably damaging |
1.00 |
R9764:Cnot1
|
UTSW |
8 |
95769581 |
missense |
probably benign |
0.00 |
R9789:Cnot1
|
UTSW |
8 |
95729144 |
missense |
probably damaging |
1.00 |
X0050:Cnot1
|
UTSW |
8 |
95743098 |
splice site |
probably null |
|
Z1176:Cnot1
|
UTSW |
8 |
95748277 |
missense |
possibly damaging |
0.73 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTGAACGTACCCATAGACTG -3'
(R):5'- TTCAGAACAGAGTAAGACACTTGG -3'
Sequencing Primer
(F):5'- CGTACCCATAGACTGATATAAGGTC -3'
(R):5'- GACATTTACAGATAACAGAGATAGCC -3'
|
Posted On |
2017-06-26 |