Incidental Mutation 'R9508:Cnot4'
ID 717924
Institutional Source Beutler Lab
Gene Symbol Cnot4
Ensembl Gene ENSMUSG00000038784
Gene Name CCR4-NOT transcription complex, subunit 4
Synonyms Not4h, Not4hp, Not4
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9508 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 34999000-35110646 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 35045554 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 219 (E219G)
Ref Sequence ENSEMBL: ENSMUSP00000110645 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044163] [ENSMUST00000114989] [ENSMUST00000114993] [ENSMUST00000202143] [ENSMUST00000202417]
AlphaFold Q8BT14
Predicted Effect possibly damaging
Transcript: ENSMUST00000044163
AA Change: E219G

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000044137
Gene: ENSMUSG00000038784
AA Change: E219G

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 possibly damaging
Transcript: ENSMUST00000114989
AA Change: E219G

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000110640
Gene: ENSMUSG00000038784
AA Change: E219G

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
SMART Domains Protein: ENSMUSP00000110645
Gene: ENSMUSG00000038784
AA Change: E219G

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 damaging
Transcript: ENSMUST00000202143
AA Change: E219G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000144352
Gene: ENSMUSG00000038784
AA Change: E219G

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 possibly damaging
Transcript: ENSMUST00000202417
AA Change: E219G

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000144409
Gene: ENSMUSG00000038784
AA Change: E219G

DomainStartEndE-ValueType
RING 14 56 4.14e-1 SMART
low complexity region 76 93 N/A INTRINSIC
RRM 110 189 6.41e-2 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik G A 13: 119,617,484 (GRCm39) V536I Het
Adam18 A G 8: 25,143,778 (GRCm39) I187T possibly damaging Het
Adam24 A G 8: 41,132,941 (GRCm39) I136M probably benign Het
B3galt2 A T 1: 143,522,280 (GRCm39) I139F possibly damaging Het
Cacna1i C T 15: 80,279,372 (GRCm39) P2038S probably benign Het
Cbll1 A T 12: 31,544,685 (GRCm39) I26N probably damaging Het
Cldn1 A T 16: 26,179,619 (GRCm39) Y149* probably null Het
Cnot11 T C 1: 39,581,575 (GRCm39) V372A probably damaging Het
Cnot2 A G 10: 116,329,616 (GRCm39) L458P probably damaging Het
Col8a1 T G 16: 57,448,947 (GRCm39) I188L unknown Het
Daam2 T C 17: 49,765,618 (GRCm39) K1095R probably damaging Het
Dnah9 T C 11: 65,725,089 (GRCm39) T4355A probably damaging Het
Dsg4 A G 18: 20,604,070 (GRCm39) I846V probably damaging Het
Ehd4 C T 2: 119,921,966 (GRCm39) G430E probably damaging Het
Fanci T C 7: 79,083,033 (GRCm39) Y670H possibly damaging Het
Galnt10 T A 11: 57,673,040 (GRCm39) N465K possibly damaging Het
Glipr1l1 A G 10: 111,912,015 (GRCm39) N183S probably damaging Het
Gnl1 T C 17: 36,299,625 (GRCm39) Y599H possibly damaging Het
Gpr26 T C 7: 131,585,830 (GRCm39) S267P probably benign Het
Grk2 A T 19: 4,341,636 (GRCm39) N179K probably damaging Het
Igf2bp2 T A 16: 21,898,845 (GRCm39) M255L probably benign Het
Ighv2-6 T C 12: 113,680,430 (GRCm39) I70M probably benign Het
Igkv4-74 T A 6: 69,161,942 (GRCm39) N76Y probably damaging Het
Il11ra1 T C 4: 41,767,527 (GRCm39) V293A probably damaging Het
Itpr3 G A 17: 27,337,651 (GRCm39) probably benign Het
Kank2 A T 9: 21,687,076 (GRCm39) L582Q probably damaging Het
Kmt2b T C 7: 30,269,259 (GRCm39) T2554A probably damaging Het
Mecom T A 3: 30,010,621 (GRCm39) Y619F probably benign Het
Mknk1 A G 4: 115,732,579 (GRCm39) N269S probably benign Het
Mpp2 T A 11: 101,951,692 (GRCm39) E435D probably damaging Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Or2f2 A G 6: 42,767,928 (GRCm39) *318W probably null Het
Or5g9 A G 2: 85,552,165 (GRCm39) R139G possibly damaging Het
Or7a41 A T 10: 78,870,933 (GRCm39) Q101L probably damaging Het
P3h3 A G 6: 124,830,012 (GRCm39) probably null Het
Paqr5 C T 9: 61,880,079 (GRCm39) V72M probably benign Het
Pilrb2 G A 5: 137,869,261 (GRCm39) T113I probably damaging Het
Pitpnm3 T C 11: 72,003,121 (GRCm39) E63G probably damaging Het
Ppp4r4 G A 12: 103,542,561 (GRCm39) V108M possibly damaging Het
Ptprf G T 4: 118,126,776 (GRCm39) S46* probably null Het
Rab2a T C 4: 8,582,447 (GRCm39) L143P Het
Rassf7 C T 7: 140,796,924 (GRCm39) R46* probably null Het
Sec23a T C 12: 59,036,185 (GRCm39) D393G probably benign Het
Semp2l2b A G 10: 21,942,816 (GRCm39) V388A probably damaging Het
Serpinb9f T A 13: 33,518,515 (GRCm39) F338L probably benign Het
Spg7 T C 8: 123,800,623 (GRCm39) V66A probably damaging Het
Sult2a4 C T 7: 13,723,437 (GRCm39) R27H probably benign Het
Sumo2 A C 11: 115,414,538 (GRCm39) Y95D possibly damaging Het
Tbx18 G A 9: 87,587,926 (GRCm39) S397F probably damaging Het
Ticam2 G C 18: 46,693,748 (GRCm39) P113R probably damaging Het
Timeless A G 10: 128,076,096 (GRCm39) S63G probably benign Het
Tinag C T 9: 76,912,981 (GRCm39) C276Y probably damaging Het
Tmem143 A T 7: 45,565,630 (GRCm39) K364* probably null Het
Tmem160 A G 7: 16,186,840 (GRCm39) probably benign Het
Tmod4 G C 3: 95,034,713 (GRCm39) E154Q probably benign Het
Trpv1 G T 11: 73,145,090 (GRCm39) K725N Het
Ttn G T 2: 76,715,978 (GRCm39) A7767D unknown Het
Tubd1 T A 11: 86,448,640 (GRCm39) Y318N probably damaging Het
Ufd1 T A 16: 18,643,802 (GRCm39) M187K possibly damaging Het
Unc5c A G 3: 141,494,736 (GRCm39) N424D possibly damaging Het
Usp19 C T 9: 108,371,608 (GRCm39) S329L probably damaging Het
Vps16 T A 2: 130,284,361 (GRCm39) I704N possibly damaging Het
Vwf A T 6: 125,532,471 (GRCm39) I72F Het
Ypel4 T C 2: 84,567,304 (GRCm39) S46P probably damaging Het
Zcchc8 A C 5: 123,842,584 (GRCm39) probably null Het
Other mutations in Cnot4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01328:Cnot4 APN 6 35,055,049 (GRCm39) missense probably damaging 1.00
IGL01341:Cnot4 APN 6 35,047,189 (GRCm39) missense probably damaging 1.00
IGL01346:Cnot4 APN 6 35,047,183 (GRCm39) missense probably damaging 1.00
IGL01775:Cnot4 APN 6 35,046,411 (GRCm39) splice site probably benign
IGL02035:Cnot4 APN 6 35,047,186 (GRCm39) missense probably damaging 1.00
IGL02167:Cnot4 APN 6 35,033,159 (GRCm39) missense possibly damaging 0.49
IGL02227:Cnot4 APN 6 35,028,198 (GRCm39) missense probably benign 0.44
IGL03136:Cnot4 APN 6 35,028,176 (GRCm39) missense probably damaging 0.99
IGL03230:Cnot4 APN 6 35,028,344 (GRCm39) missense probably damaging 1.00
IGL03297:Cnot4 APN 6 35,001,158 (GRCm39) missense probably benign
R0049:Cnot4 UTSW 6 35,028,212 (GRCm39) missense probably benign
R0049:Cnot4 UTSW 6 35,028,212 (GRCm39) missense probably benign
R0597:Cnot4 UTSW 6 35,028,438 (GRCm39) missense possibly damaging 0.66
R1518:Cnot4 UTSW 6 35,028,389 (GRCm39) missense probably damaging 0.98
R1883:Cnot4 UTSW 6 35,055,092 (GRCm39) missense probably damaging 0.99
R1884:Cnot4 UTSW 6 35,055,092 (GRCm39) missense probably damaging 0.99
R1992:Cnot4 UTSW 6 35,000,344 (GRCm39) missense probably benign
R3500:Cnot4 UTSW 6 35,057,076 (GRCm39) start gained probably benign
R4738:Cnot4 UTSW 6 35,028,311 (GRCm39) missense probably benign 0.28
R5029:Cnot4 UTSW 6 35,054,962 (GRCm39) missense probably damaging 1.00
R5247:Cnot4 UTSW 6 35,028,351 (GRCm39) missense probably damaging 0.96
R5534:Cnot4 UTSW 6 35,054,939 (GRCm39) missense possibly damaging 0.55
R5602:Cnot4 UTSW 6 35,028,464 (GRCm39) nonsense probably null
R6236:Cnot4 UTSW 6 35,045,608 (GRCm39) missense probably benign 0.33
R6701:Cnot4 UTSW 6 35,045,539 (GRCm39) missense probably damaging 1.00
R7252:Cnot4 UTSW 6 35,046,362 (GRCm39) missense probably damaging 1.00
R7360:Cnot4 UTSW 6 35,041,941 (GRCm39) missense probably damaging 1.00
R7479:Cnot4 UTSW 6 35,001,083 (GRCm39) missense probably benign 0.00
R7574:Cnot4 UTSW 6 35,029,939 (GRCm39) missense possibly damaging 0.82
R8063:Cnot4 UTSW 6 35,045,578 (GRCm39) missense probably damaging 0.98
R8137:Cnot4 UTSW 6 35,023,222 (GRCm39) missense unknown
R8312:Cnot4 UTSW 6 35,000,076 (GRCm39) missense probably damaging 0.99
R8407:Cnot4 UTSW 6 35,033,154 (GRCm39) missense probably benign 0.24
R9380:Cnot4 UTSW 6 35,029,865 (GRCm39) missense possibly damaging 0.77
R9773:Cnot4 UTSW 6 35,056,920 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTGTAACCATGTCCACAGAAGAG -3'
(R):5'- CAGCTTCCTAGTGCTCTTAGTCATG -3'

Sequencing Primer
(F):5'- GTCCACAGAAGAGACATTTTATGAG -3'
(R):5'- TGTCTCGTTTTAGGTGAAGTAAAAAC -3'
Posted On 2022-07-18