Incidental Mutation 'R5534:Cnot4'
ID434701
Institutional Source Beutler Lab
Gene Symbol Cnot4
Ensembl Gene ENSMUSG00000038784
Gene NameCCR4-NOT transcription complex, subunit 4
SynonymsNot4h, Not4, Not4hp
MMRRC Submission 043092-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R5534 (G1)
Quality Score225
Status Not validated
Chromosome6
Chromosomal Location35022065-35133724 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 35078004 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 117 (S117P)
Ref Sequence ENSEMBL: ENSMUSP00000110645 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044163] [ENSMUST00000114989] [ENSMUST00000114993] [ENSMUST00000202143] [ENSMUST00000202417]
Predicted Effect probably benign
Transcript: ENSMUST00000044163
AA Change: S117P

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000044137
Gene: ENSMUSG00000038784
AA Change: S117P

DomainStartEndE-ValueType
RING 14 56 4.14e-1 SMART
low complexity region 76 93 N/A INTRINSIC
RRM 110 189 6.41e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114989
AA Change: S117P

PolyPhen 2 Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000110640
Gene: ENSMUSG00000038784
AA Change: S117P

DomainStartEndE-ValueType
RING 14 56 4.14e-1 SMART
low complexity region 76 93 N/A INTRINSIC
RRM 110 189 6.41e-2 SMART
low complexity region 537 549 N/A INTRINSIC
low complexity region 576 590 N/A INTRINSIC
low complexity region 602 617 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000114993
AA Change: S117P

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000110645
Gene: ENSMUSG00000038784
AA Change: S117P

DomainStartEndE-ValueType
RING 14 56 4.14e-1 SMART
low complexity region 76 93 N/A INTRINSIC
RRM 110 189 6.41e-2 SMART
low complexity region 572 592 N/A INTRINSIC
low complexity region 644 658 N/A INTRINSIC
low complexity region 670 685 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000202143
AA Change: S117P

PolyPhen 2 Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000144352
Gene: ENSMUSG00000038784
AA Change: S117P

DomainStartEndE-ValueType
RING 14 56 4.14e-1 SMART
low complexity region 76 93 N/A INTRINSIC
RRM 110 189 6.41e-2 SMART
low complexity region 534 546 N/A INTRINSIC
low complexity region 573 587 N/A INTRINSIC
low complexity region 599 614 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000202417
AA Change: S117P

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000144409
Gene: ENSMUSG00000038784
AA Change: S117P

DomainStartEndE-ValueType
RING 14 56 4.14e-1 SMART
low complexity region 76 93 N/A INTRINSIC
RRM 110 189 6.41e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202666
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 94.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a subunit of the CCR4-NOT complex, a global transcriptional regulator. The encoded protein interacts with CNOT1 and has E3 ubiquitin ligase activity. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2010]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik C A 15: 8,228,835 F2188L probably benign Het
Adam18 T A 8: 24,665,514 D163V probably benign Het
Ank2 A T 3: 126,947,298 probably benign Het
Ankmy1 T C 1: 92,886,720 E355G probably damaging Het
Ankmy2 A G 12: 36,182,492 N172S probably damaging Het
Ankrd50 A G 3: 38,456,082 M712T probably damaging Het
Apcdd1 T C 18: 62,937,034 I124T probably benign Het
Carmil3 A G 14: 55,494,890 K256R probably damaging Het
Cass4 G T 2: 172,426,768 V259L probably benign Het
Ccdc141 A G 2: 77,057,897 V508A probably benign Het
Ccdc33 A G 9: 58,117,167 S226P possibly damaging Het
Cep72 T C 13: 74,062,216 E9G probably benign Het
Clca4b A T 3: 144,915,466 Y616N probably damaging Het
Col11a2 C T 17: 34,051,024 A429V probably damaging Het
Col4a4 T C 1: 82,487,517 E979G unknown Het
Coq10b T C 1: 55,064,200 Y46H possibly damaging Het
Dnah17 T C 11: 118,052,770 T3169A possibly damaging Het
Dock6 G A 9: 21,803,076 R1824* probably null Het
Dsp A C 13: 38,195,842 I1589L probably benign Het
Edil3 A G 13: 89,199,474 T383A probably benign Het
Efemp1 T C 11: 28,867,758 V79A probably damaging Het
Esyt1 C T 10: 128,519,460 V471I probably benign Het
Fbxo30 T C 10: 11,289,665 S44P possibly damaging Het
Fdx1l G T 9: 21,073,266 D57E probably benign Het
Gbp11 A T 5: 105,331,038 V178D probably damaging Het
Gm13084 G T 4: 143,812,599 S108* probably null Het
Gna11 A T 10: 81,531,133 I283N probably damaging Het
Grid2 A T 6: 63,503,361 Q53L probably benign Het
Jmjd6 A G 11: 116,840,426 S266P probably damaging Het
Kdelc1 C T 1: 44,112,677 V351M probably damaging Het
Kirrel G A 3: 87,090,518 R233C probably damaging Het
Kmt2d A G 15: 98,837,357 probably benign Het
Lama3 A T 18: 12,553,210 T1171S probably benign Het
Ltbr G A 6: 125,312,794 R146W probably damaging Het
Med13 A T 11: 86,319,365 S650R probably benign Het
Meltf T A 16: 31,890,814 probably null Het
Mgat1 T C 11: 49,261,149 V153A probably benign Het
Mmp16 A T 4: 18,110,452 D416V probably damaging Het
Myh3 A T 11: 67,097,044 R1448W probably damaging Het
Nedd1 A T 10: 92,695,032 F398L probably benign Het
Olfr1009 T C 2: 85,721,987 I194T probably benign Het
Olfr1295 T C 2: 111,565,004 T147A probably benign Het
Olfr199 T C 16: 59,216,040 D191G probably benign Het
Olfr237-ps1 A G 6: 43,153,633 I109M probably benign Het
Otud3 A G 4: 138,897,583 L269P probably damaging Het
Otx1 A G 11: 21,996,296 probably benign Het
Pcdhga7 A C 18: 37,716,278 D446A probably damaging Het
Pcnx2 T G 8: 125,838,015 K1046N possibly damaging Het
Pfkp C A 13: 6,648,583 G33W probably damaging Het
Pold1 A G 7: 44,538,619 I585T probably damaging Het
Pole4 A G 6: 82,652,134 Y84H possibly damaging Het
Ptpn23 A G 9: 110,392,741 S126P possibly damaging Het
R3hdm4 C T 10: 79,912,458 E162K possibly damaging Het
Rin3 T C 12: 102,387,632 L766P probably damaging Het
Rnd2 C T 11: 101,468,999 L57F probably damaging Het
Rras2 G A 7: 114,050,415 T138I possibly damaging Het
Scrn2 A G 11: 97,030,925 I74V probably benign Het
Sema6d T C 2: 124,659,815 I526T possibly damaging Het
Shd G T 17: 55,971,577 E47* probably null Het
Slc22a27 T C 19: 7,926,631 H47R probably damaging Het
Slc36a3 C G 11: 55,142,769 W141S possibly damaging Het
Slc9c1 T A 16: 45,556,614 V429E probably benign Het
Smg8 A T 11: 87,085,470 D428E probably benign Het
Snrpe A T 1: 133,606,473 F84Y probably benign Het
Tbc1d2b C T 9: 90,227,506 D306N possibly damaging Het
Trav9n-4 A G 14: 53,294,899 Y70C probably damaging Het
Ush1c A G 7: 46,221,423 I330T probably damaging Het
Wnt11 T C 7: 98,839,142 L12P probably damaging Het
Zan A G 5: 137,438,451 S2047P unknown Het
Zcchc6 A G 13: 59,788,553 F843L probably damaging Het
Zfp763 A C 17: 33,021,794 S20R probably damaging Het
Other mutations in Cnot4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01328:Cnot4 APN 6 35078114 missense probably damaging 1.00
IGL01341:Cnot4 APN 6 35070254 missense probably damaging 1.00
IGL01346:Cnot4 APN 6 35070248 missense probably damaging 1.00
IGL01775:Cnot4 APN 6 35069476 splice site probably benign
IGL02035:Cnot4 APN 6 35070251 missense probably damaging 1.00
IGL02167:Cnot4 APN 6 35056224 missense possibly damaging 0.49
IGL02227:Cnot4 APN 6 35051263 missense probably benign 0.44
IGL03136:Cnot4 APN 6 35051241 missense probably damaging 0.99
IGL03230:Cnot4 APN 6 35051409 missense probably damaging 1.00
IGL03297:Cnot4 APN 6 35024223 missense probably benign
R0049:Cnot4 UTSW 6 35051277 missense probably benign
R0049:Cnot4 UTSW 6 35051277 missense probably benign
R0597:Cnot4 UTSW 6 35051503 missense possibly damaging 0.66
R1518:Cnot4 UTSW 6 35051454 missense probably damaging 0.98
R1883:Cnot4 UTSW 6 35078157 missense probably damaging 0.99
R1884:Cnot4 UTSW 6 35078157 missense probably damaging 0.99
R1992:Cnot4 UTSW 6 35023409 missense probably benign
R3500:Cnot4 UTSW 6 35080141 start gained probably benign
R4738:Cnot4 UTSW 6 35051376 missense probably benign 0.28
R5029:Cnot4 UTSW 6 35078027 missense probably damaging 1.00
R5247:Cnot4 UTSW 6 35051416 missense probably damaging 0.96
R5602:Cnot4 UTSW 6 35051529 nonsense probably null
R6236:Cnot4 UTSW 6 35068673 missense probably benign 0.33
R6701:Cnot4 UTSW 6 35068604 missense probably damaging 1.00
R7252:Cnot4 UTSW 6 35069427 missense probably damaging 1.00
R7360:Cnot4 UTSW 6 35065006 missense probably damaging 1.00
R7479:Cnot4 UTSW 6 35024148 missense probably benign 0.00
R7574:Cnot4 UTSW 6 35053004 missense possibly damaging 0.82
R8063:Cnot4 UTSW 6 35068643 missense probably damaging 0.98
R8137:Cnot4 UTSW 6 35046287 missense unknown
R8312:Cnot4 UTSW 6 35023141 missense probably damaging 0.99
R8407:Cnot4 UTSW 6 35056219 missense probably benign 0.24
Predicted Primers PCR Primer
(F):5'- TGACAGGATCATTACCACGTC -3'
(R):5'- ATCCAGAAGATCCAGCAGTTTAC -3'

Sequencing Primer
(F):5'- AAGCCCTTAGTTTCACGAGG -3'
(R):5'- GTTTACAAACCACTTTCCCAGG -3'
Posted On2016-10-24