Incidental Mutation 'R4774:Nol4'
ID 367810
Institutional Source Beutler Lab
Gene Symbol Nol4
Ensembl Gene ENSMUSG00000041923
Gene Name nucleolar protein 4
Synonyms 1700013J13Rik, LOC383304, 4930568N03Rik
MMRRC Submission 042412-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.452) question?
Stock # R4774 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 22826238-23174710 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 23045683 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 243 (E243G)
Ref Sequence ENSEMBL: ENSMUSP00000095256 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081423] [ENSMUST00000097651] [ENSMUST00000164186] [ENSMUST00000164893] [ENSMUST00000165323]
AlphaFold P60954
Predicted Effect possibly damaging
Transcript: ENSMUST00000081423
AA Change: E170G

PolyPhen 2 Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000080150
Gene: ENSMUSG00000041923
AA Change: E170G

DomainStartEndE-ValueType
low complexity region 139 155 N/A INTRINSIC
low complexity region 199 210 N/A INTRINSIC
low complexity region 309 320 N/A INTRINSIC
low complexity region 487 506 N/A INTRINSIC
low complexity region 513 523 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000097651
AA Change: E243G

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000095256
Gene: ENSMUSG00000041923
AA Change: E243G

DomainStartEndE-ValueType
low complexity region 212 228 N/A INTRINSIC
low complexity region 272 283 N/A INTRINSIC
low complexity region 382 393 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164186
AA Change: E243G

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000130950
Gene: ENSMUSG00000041923
AA Change: E243G

DomainStartEndE-ValueType
low complexity region 212 228 N/A INTRINSIC
low complexity region 272 283 N/A INTRINSIC
low complexity region 382 393 N/A INTRINSIC
low complexity region 560 579 N/A INTRINSIC
low complexity region 586 596 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000164893
AA Change: E243G

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000127870
Gene: ENSMUSG00000041923
AA Change: E243G

DomainStartEndE-ValueType
low complexity region 212 228 N/A INTRINSIC
low complexity region 272 283 N/A INTRINSIC
low complexity region 382 393 N/A INTRINSIC
low complexity region 496 515 N/A INTRINSIC
low complexity region 522 532 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000165323
SMART Domains Protein: ENSMUSP00000125860
Gene: ENSMUSG00000041923

DomainStartEndE-ValueType
low complexity region 95 108 N/A INTRINSIC
Meta Mutation Damage Score 0.0673 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.9%
Validation Efficiency 98% (97/99)
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 T C 6: 142,585,043 (GRCm39) I844V probably damaging Het
Acnat1 T A 4: 49,450,784 (GRCm39) Y109F probably benign Het
Alox12b T C 11: 69,054,033 (GRCm39) V205A probably benign Het
Arl6ip1 G A 7: 117,721,208 (GRCm39) R77C probably damaging Het
Atp8b1 A G 18: 64,666,730 (GRCm39) C1156R possibly damaging Het
Atp8b3 A C 10: 80,372,156 (GRCm39) N24K probably damaging Het
Bdh1 T C 16: 31,273,954 (GRCm39) V209A possibly damaging Het
Blm A T 7: 80,113,596 (GRCm39) C1234S probably damaging Het
Caml A G 13: 55,779,740 (GRCm39) D271G possibly damaging Het
Capn11 T C 17: 45,944,006 (GRCm39) D545G probably benign Het
Catspere1 T C 1: 177,765,304 (GRCm39) noncoding transcript Het
Cep128 T C 12: 91,200,969 (GRCm39) E347G probably damaging Het
Cngb3 A G 4: 19,415,713 (GRCm39) T408A possibly damaging Het
Coa8 A G 12: 111,679,823 (GRCm39) T33A possibly damaging Het
Cog1 G A 11: 113,548,253 (GRCm39) R18Q possibly damaging Het
Cps1 T C 1: 67,259,671 (GRCm39) F1338L probably damaging Het
Csmd1 T C 8: 16,059,369 (GRCm39) H2122R probably benign Het
Ctu2 T G 8: 123,207,851 (GRCm39) S26A probably benign Het
Dbf4 G A 5: 8,453,062 (GRCm39) probably benign Het
Ddx23 A T 15: 98,545,116 (GRCm39) D663E probably benign Het
Dpep2 T C 8: 106,717,388 (GRCm39) T123A possibly damaging Het
Eed A G 7: 89,613,976 (GRCm39) I274T probably damaging Het
Eif3b A G 5: 140,405,255 (GRCm39) D47G probably benign Het
Epas1 T C 17: 87,113,186 (GRCm39) V124A probably damaging Het
Fer1l6 T C 15: 58,449,798 (GRCm39) L668P probably damaging Het
Fnip2 C A 3: 79,373,028 (GRCm39) E1017* probably null Het
Gm43517 A T 12: 49,436,690 (GRCm39) probably benign Het
Got1 A G 19: 43,491,345 (GRCm39) probably null Het
H2-Eb2 T A 17: 34,553,375 (GRCm39) V187E probably damaging Het
H2-Q1 T C 17: 35,540,242 (GRCm39) probably benign Het
Hpgd T C 8: 56,751,454 (GRCm39) V94A probably damaging Het
Htra1 T A 7: 130,586,756 (GRCm39) N446K probably benign Het
Igkv3-4 T A 6: 70,649,269 (GRCm39) S89R probably damaging Het
Immt C T 6: 71,829,720 (GRCm39) T142I probably damaging Het
Itpkb C A 1: 180,245,759 (GRCm39) P759T probably damaging Het
Jmjd1c G A 10: 67,060,571 (GRCm39) V688I possibly damaging Het
Kbtbd13 G T 9: 65,298,025 (GRCm39) R304S probably benign Het
Lama5 A C 2: 179,827,734 (GRCm39) L2176R probably damaging Het
Lrp1b G C 2: 40,551,544 (GRCm39) L418V probably null Het
Lrrc4b C A 7: 44,111,796 (GRCm39) probably null Het
Lyst A G 13: 13,915,182 (GRCm39) N3292S probably damaging Het
Mep1b A T 18: 21,219,241 (GRCm39) I132F probably benign Het
Mettl2 A G 11: 105,017,436 (GRCm39) probably null Het
Nherf2 T C 17: 24,863,873 (GRCm39) M1V probably null Het
Niban1 A T 1: 151,591,445 (GRCm39) D529V probably damaging Het
Nmd3 T C 3: 69,652,569 (GRCm39) L385S probably benign Het
Odad1 T A 7: 45,597,804 (GRCm39) S571R probably damaging Het
Or4l1 T A 14: 50,166,726 (GRCm39) I92F probably damaging Het
Or51k1 A G 7: 103,661,795 (GRCm39) I38T probably benign Het
Or5j3 A T 2: 86,129,042 (GRCm39) N294I possibly damaging Het
Or8b52 A G 9: 38,576,519 (GRCm39) I207T probably benign Het
Pcnp A G 16: 55,837,522 (GRCm39) probably benign Het
Pla2g6 A C 15: 79,171,818 (GRCm39) C680G probably damaging Het
Plekha7 G T 7: 115,744,178 (GRCm39) D661E probably damaging Het
Prim1 A T 10: 127,862,887 (GRCm39) probably benign Het
Psg29 T A 7: 16,944,460 (GRCm39) N323K probably benign Het
Ptrh2 G A 11: 86,580,833 (GRCm39) R150H probably damaging Het
Rasa1 A G 13: 85,398,621 (GRCm39) probably benign Het
Rasa3 T C 8: 13,627,501 (GRCm39) D667G probably benign Het
Rnase2a T C 14: 51,493,201 (GRCm39) N55D probably damaging Het
Rsf1 GCGGCGGCGGCGGCGGCGGC GCGGCGGCGGCGGCGGCGGCGGCGGCGGC 7: 97,229,123 (GRCm39) probably benign Het
Sbp T A 17: 24,164,218 (GRCm39) N133K probably damaging Het
Scml4 A G 10: 42,833,743 (GRCm39) probably benign Het
Sema5b T A 16: 35,483,552 (GRCm39) N1063K probably damaging Het
Serpind1 C T 16: 17,154,272 (GRCm39) T33M probably benign Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Slc15a2 A T 16: 36,602,057 (GRCm39) L80* probably null Het
Sorcs3 A G 19: 48,782,602 (GRCm39) D1039G probably benign Het
Spon1 A G 7: 113,639,102 (GRCm39) E776G probably damaging Het
Tdp1 C T 12: 99,868,623 (GRCm39) A259V possibly damaging Het
Tex46 C A 4: 136,337,991 (GRCm39) P61Q probably benign Het
Tnr T A 1: 159,724,636 (GRCm39) L1109Q probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tpra1 G A 6: 88,887,661 (GRCm39) probably benign Het
Trim43c A T 9: 88,729,705 (GRCm39) H383L possibly damaging Het
Trip6 A G 5: 137,308,433 (GRCm39) C439R probably damaging Het
Tsen2 C T 6: 115,552,894 (GRCm39) S398L possibly damaging Het
Tubgcp2 T C 7: 139,576,074 (GRCm39) D863G probably damaging Het
Ube2d2a A G 18: 35,903,498 (GRCm39) probably benign Het
Umad1 T A 6: 8,427,181 (GRCm39) F145I probably damaging Het
Unc5c A T 3: 141,534,278 (GRCm39) E933V probably damaging Het
Vmn1r208 A G 13: 22,956,646 (GRCm39) F284L probably benign Het
Vmn2r53 T A 7: 12,334,692 (GRCm39) R323* probably null Het
Zan G A 5: 137,387,281 (GRCm39) T4924I unknown Het
Zfp597 G T 16: 3,683,851 (GRCm39) Q302K probably benign Het
Other mutations in Nol4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00339:Nol4 APN 18 22,956,469 (GRCm39) missense probably benign 0.15
IGL00677:Nol4 APN 18 23,054,924 (GRCm39) missense probably damaging 1.00
IGL01153:Nol4 APN 18 22,902,850 (GRCm39) missense probably damaging 1.00
IGL01400:Nol4 APN 18 22,956,555 (GRCm39) missense probably damaging 0.99
IGL02006:Nol4 APN 18 23,054,975 (GRCm39) missense probably damaging 1.00
IGL02342:Nol4 APN 18 22,903,926 (GRCm39) splice site probably benign
IGL02501:Nol4 APN 18 22,956,398 (GRCm39) missense probably damaging 1.00
PIT4378001:Nol4 UTSW 18 23,172,933 (GRCm39) missense probably damaging 1.00
R0096:Nol4 UTSW 18 23,054,915 (GRCm39) missense possibly damaging 0.95
R0097:Nol4 UTSW 18 22,852,198 (GRCm39) missense probably benign 0.23
R0097:Nol4 UTSW 18 22,852,198 (GRCm39) missense probably benign 0.23
R1257:Nol4 UTSW 18 22,903,738 (GRCm39) missense probably damaging 1.00
R1793:Nol4 UTSW 18 22,902,878 (GRCm39) missense probably damaging 1.00
R2101:Nol4 UTSW 18 22,956,466 (GRCm39) missense probably damaging 1.00
R2357:Nol4 UTSW 18 23,172,967 (GRCm39) missense probably benign 0.01
R2414:Nol4 UTSW 18 22,956,629 (GRCm39) critical splice acceptor site probably null
R2427:Nol4 UTSW 18 22,983,755 (GRCm39) intron probably benign
R3713:Nol4 UTSW 18 23,172,994 (GRCm39) missense probably damaging 1.00
R3734:Nol4 UTSW 18 22,903,921 (GRCm39) splice site probably benign
R3803:Nol4 UTSW 18 22,828,012 (GRCm39) missense probably damaging 1.00
R4458:Nol4 UTSW 18 22,885,052 (GRCm39) missense probably damaging 0.99
R4736:Nol4 UTSW 18 22,852,050 (GRCm39) missense probably damaging 1.00
R4795:Nol4 UTSW 18 23,054,944 (GRCm39) missense probably damaging 1.00
R5245:Nol4 UTSW 18 22,828,179 (GRCm39) makesense probably null
R5980:Nol4 UTSW 18 23,085,258 (GRCm39) missense probably damaging 0.97
R6372:Nol4 UTSW 18 23,171,613 (GRCm39) critical splice donor site probably null
R6485:Nol4 UTSW 18 22,903,850 (GRCm39) missense probably damaging 1.00
R6614:Nol4 UTSW 18 23,053,913 (GRCm39) missense probably damaging 1.00
R6809:Nol4 UTSW 18 23,053,882 (GRCm39) missense probably damaging 1.00
R6877:Nol4 UTSW 18 22,852,186 (GRCm39) missense probably benign 0.06
R7269:Nol4 UTSW 18 23,172,846 (GRCm39) missense probably benign
R7310:Nol4 UTSW 18 22,903,801 (GRCm39) missense
R7720:Nol4 UTSW 18 23,173,080 (GRCm39) missense probably benign 0.16
R7753:Nol4 UTSW 18 23,171,659 (GRCm39) start codon destroyed probably benign 0.15
R7897:Nol4 UTSW 18 22,956,400 (GRCm39) missense
R7974:Nol4 UTSW 18 22,852,082 (GRCm39) nonsense probably null
R8297:Nol4 UTSW 18 23,173,069 (GRCm39) missense probably damaging 0.99
R8303:Nol4 UTSW 18 23,173,231 (GRCm39) unclassified probably benign
R8466:Nol4 UTSW 18 23,171,638 (GRCm39) missense probably benign 0.03
R8985:Nol4 UTSW 18 23,085,294 (GRCm39) missense probably damaging 1.00
R9064:Nol4 UTSW 18 22,903,850 (GRCm39) missense
R9296:Nol4 UTSW 18 22,956,388 (GRCm39) missense
R9442:Nol4 UTSW 18 22,902,899 (GRCm39) missense probably damaging 1.00
R9456:Nol4 UTSW 18 23,172,897 (GRCm39) missense probably benign 0.41
R9469:Nol4 UTSW 18 23,085,318 (GRCm39) missense probably damaging 0.99
R9478:Nol4 UTSW 18 23,053,934 (GRCm39) missense probably damaging 1.00
R9708:Nol4 UTSW 18 22,828,053 (GRCm39) missense probably damaging 1.00
Z1088:Nol4 UTSW 18 23,054,959 (GRCm39) missense probably damaging 1.00
Z1177:Nol4 UTSW 18 22,902,897 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GTGGATGACATAACCTGAATGCC -3'
(R):5'- GAGTCTGATAATATGAACTGGCTAACC -3'

Sequencing Primer
(F):5'- TGAATGCCCAGAAAATGTCTCCATAG -3'
(R):5'- GGCTAACCTCTAATTAAGCACATAGG -3'
Posted On 2015-12-29