Incidental Mutation 'R2101:Nol4'
ID 230539
Institutional Source Beutler Lab
Gene Symbol Nol4
Ensembl Gene ENSMUSG00000041923
Gene Name nucleolar protein 4
Synonyms 1700013J13Rik, LOC383304, 4930568N03Rik
MMRRC Submission 040105-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.452) question?
Stock # R2101 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 22826238-23174710 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 22956466 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 239 (S239P)
Ref Sequence ENSEMBL: ENSMUSP00000080150 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081423] [ENSMUST00000097651] [ENSMUST00000164186] [ENSMUST00000164893]
AlphaFold P60954
Predicted Effect possibly damaging
Transcript: ENSMUST00000069215
AA Change: S93P

PolyPhen 2 Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000064166
Gene: ENSMUSG00000041923
AA Change: S93P

DomainStartEndE-ValueType
low complexity region 54 65 N/A INTRINSIC
low complexity region 164 175 N/A INTRINSIC
low complexity region 342 361 N/A INTRINSIC
low complexity region 368 378 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000081423
AA Change: S239P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000080150
Gene: ENSMUSG00000041923
AA Change: S239P

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 benign
Transcript: ENSMUST00000092015
AA Change: S93P

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000089642
Gene: ENSMUSG00000041923
AA Change: S93P

DomainStartEndE-ValueType
low complexity region 54 65 N/A INTRINSIC
low complexity region 164 175 N/A INTRINSIC
low complexity region 278 297 N/A INTRINSIC
low complexity region 304 314 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000097651
AA Change: S312P

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000095256
Gene: ENSMUSG00000041923
AA Change: S312P

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: S312P

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000130950
Gene: ENSMUSG00000041923
AA Change: S312P

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 noncoding transcript
Transcript: ENSMUST00000164521
Predicted Effect probably benign
Transcript: ENSMUST00000164893
AA Change: S312P

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000127870
Gene: ENSMUSG00000041923
AA Change: S312P

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
Meta Mutation Damage Score 0.0727 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (67/67)
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb2 G A 2: 103,397,207 (GRCm39) A46T probably benign Het
Agap3 T A 5: 24,692,797 (GRCm39) L47Q probably damaging Het
Apaf1 T G 10: 90,895,942 (GRCm39) I377L probably benign Het
Astn2 G A 4: 65,499,923 (GRCm39) R937* probably null Het
Cacnb1 A C 11: 97,896,554 (GRCm39) V369G probably damaging Het
Cdc42bpa G T 1: 179,974,533 (GRCm39) V1464L probably benign Het
Cdkn2aip A T 8: 48,166,036 (GRCm39) M90K probably damaging Het
Chd3 A T 11: 69,239,877 (GRCm39) D1650E probably benign Het
Chd9 C T 8: 91,760,615 (GRCm39) P2120L probably benign Het
Clca3a2 T C 3: 144,783,699 (GRCm39) T639A probably damaging Het
Cluh G T 11: 74,551,328 (GRCm39) probably benign Het
Cnga1 C T 5: 72,776,404 (GRCm39) V20I possibly damaging Het
Col11a2 A T 17: 34,271,143 (GRCm39) D528V probably damaging Het
Cyfip2 A G 11: 46,133,270 (GRCm39) L810P probably damaging Het
D430041D05Rik A G 2: 103,979,175 (GRCm39) V2084A probably damaging Het
Dcc G A 18: 71,943,941 (GRCm39) H237Y possibly damaging Het
Ddx60 T A 8: 62,393,679 (GRCm39) F38L probably damaging Het
Dio2 T C 12: 90,696,597 (GRCm39) *130W probably null Het
Dock5 G T 14: 68,031,459 (GRCm39) F990L probably benign Het
Dpy19l1 A T 9: 24,393,331 (GRCm39) V146E probably damaging Het
Dscam T C 16: 96,411,549 (GRCm39) T1776A probably benign Het
Enpep C T 3: 129,092,587 (GRCm39) S532N probably benign Het
Gdf6 A G 4: 9,860,025 (GRCm39) D369G probably damaging Het
Gtf2b T C 3: 142,477,144 (GRCm39) probably benign Het
Hmbox1 A G 14: 65,066,028 (GRCm39) probably benign Het
Hps3 C A 3: 20,066,947 (GRCm39) V540F possibly damaging Het
Hsd3b6 T A 3: 98,713,553 (GRCm39) I249F possibly damaging Het
Hunk T A 16: 90,229,388 (GRCm39) probably null Het
Kidins220 T A 12: 25,107,422 (GRCm39) L1625Q probably damaging Het
Krt1 C T 15: 101,754,622 (GRCm39) G543S unknown Het
Myo10 T A 15: 25,722,345 (GRCm39) L186Q probably benign Het
N4bp2 T A 5: 65,948,224 (GRCm39) W285R probably damaging Het
Nat8l T C 5: 34,155,716 (GRCm39) L124P probably damaging Het
Nemp2 T C 1: 52,680,225 (GRCm39) probably null Het
Nkain2 G A 10: 32,205,813 (GRCm39) T74I possibly damaging Het
Or4c118 T A 2: 88,975,301 (GRCm39) E22V probably benign Het
Pcbp3 T C 10: 76,625,589 (GRCm39) I152V possibly damaging Het
Pcp4l1 G T 1: 171,003,174 (GRCm39) P10Q probably damaging Het
Pla1a T C 16: 38,235,730 (GRCm39) N135D probably damaging Het
Plb1 T A 5: 32,507,004 (GRCm39) M1193K probably damaging Het
Prc1 T C 7: 79,962,032 (GRCm39) V73A probably benign Het
Prkd2 T A 7: 16,603,490 (GRCm39) W807R probably damaging Het
Prp2rt G T 13: 97,235,730 (GRCm39) R6S probably damaging Het
Ptprb C T 10: 116,150,943 (GRCm39) probably benign Het
Rb1cc1 A G 1: 6,319,559 (GRCm39) I993V probably benign Het
Rbp3 C T 14: 33,677,975 (GRCm39) T641M probably damaging Het
Rev3l T C 10: 39,704,092 (GRCm39) V2046A probably benign Het
Rnpep G T 1: 135,199,355 (GRCm39) N334K probably damaging Het
Sarm1 G A 11: 78,366,115 (GRCm39) P695S probably damaging Het
Sf3a3 C T 4: 124,612,136 (GRCm39) T131I possibly damaging Het
Slc38a10 A T 11: 120,023,567 (GRCm39) V283E probably damaging Het
Slco6c1 A T 1: 97,000,595 (GRCm39) L552* probably null Het
Tas2r136 T C 6: 132,754,495 (GRCm39) M211V probably benign Het
Tax1bp3 G A 11: 73,071,947 (GRCm39) D65N probably damaging Het
Tdrd5 A G 1: 156,129,209 (GRCm39) F167S probably damaging Het
Tfeb G A 17: 48,100,590 (GRCm39) V269M probably damaging Het
Tspan12 A T 6: 21,799,887 (GRCm39) F153L probably benign Het
Txnrd1 T G 10: 82,717,573 (GRCm39) L186V probably damaging Het
Upk1b A T 16: 38,600,499 (GRCm39) C160* probably null Het
Uty T C Y: 1,176,541 (GRCm39) Q172R probably damaging Het
Vmn1r23 T C 6: 57,903,437 (GRCm39) K114E possibly damaging Het
Vmn2r99 T G 17: 19,598,253 (GRCm39) N92K probably damaging Het
Vstm2a T A 11: 16,213,191 (GRCm39) M192K probably benign Het
Zc3h12c A G 9: 52,027,721 (GRCm39) V547A probably benign Het
Zfp944 T A 17: 22,558,809 (GRCm39) N146I 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
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
R4774:Nol4 UTSW 18 23,045,683 (GRCm39) missense probably damaging 0.96
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'- ACTTGGCTCTATTAACCCTGAC -3'
(R):5'- CCATCTTTCAGAACTTAGTCAACAC -3'

Sequencing Primer
(F):5'- TGGCTCTATTAACCCTGACATAAC -3'
(R):5'- GTCAATCTTTCTTCCTAACAGATGAC -3'
Posted On 2014-09-18