Incidental Mutation 'R0097:Nol4'
ID 41180
Institutional Source Beutler Lab
Gene Symbol Nol4
Ensembl Gene ENSMUSG00000041923
Gene Name nucleolar protein 4
Synonyms 1700013J13Rik, LOC383304, 4930568N03Rik
MMRRC Submission 038383-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.452) question?
Stock # R0097 (G1)
Quality Score 192
Status Validated
Chromosome 18
Chromosomal Location 22826238-23174710 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 22852198 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 456 (A456S)
Ref Sequence ENSEMBL: ENSMUSP00000095256 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081423] [ENSMUST00000097651] [ENSMUST00000164186] [ENSMUST00000164893]
AlphaFold P60954
Predicted Effect unknown
Transcript: ENSMUST00000069215
AA Change: A301S
SMART Domains Protein: ENSMUSP00000064166
Gene: ENSMUSG00000041923
AA Change: A301S

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 benign
Transcript: ENSMUST00000081423
AA Change: A447S

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000080150
Gene: ENSMUSG00000041923
AA Change: A447S

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 unknown
Transcript: ENSMUST00000092015
AA Change: A237S
SMART Domains Protein: ENSMUSP00000089642
Gene: ENSMUSG00000041923
AA Change: A237S

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: A456S

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000095256
Gene: ENSMUSG00000041923
AA Change: A456S

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: A520S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000130950
Gene: ENSMUSG00000041923
AA Change: A520S

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 probably benign
Transcript: ENSMUST00000164893
AA Change: A456S

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000127870
Gene: ENSMUSG00000041923
AA Change: A456S

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 0.0603 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
Validation Efficiency 100% (57/57)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A T 3: 124,206,129 (GRCm39) I353K probably benign Het
Albfm1 T A 5: 90,732,795 (GRCm39) S535R probably benign Het
Arfgap2 T A 2: 91,105,160 (GRCm39) V422E probably benign Het
Baz1b T C 5: 135,227,113 (GRCm39) S105P probably benign Het
Bbs10 T C 10: 111,134,705 (GRCm39) V41A probably damaging Het
Cacna1s T A 1: 136,028,360 (GRCm39) M899K possibly damaging Het
Ccnd2 G A 6: 127,123,015 (GRCm39) A180V probably benign Het
Ciao3 T C 17: 25,995,976 (GRCm39) S67P possibly damaging Het
Cldnd1 A G 16: 58,550,078 (GRCm39) N87S possibly damaging Het
Cyp2c54 T A 19: 40,036,102 (GRCm39) probably benign Het
Cyp2c54 G T 19: 40,036,103 (GRCm39) probably benign Het
Dab2ip G A 2: 35,608,928 (GRCm39) V629M possibly damaging Het
Ddx41 A T 13: 55,683,691 (GRCm39) probably benign Het
Dmrta1 A T 4: 89,577,109 (GRCm39) R188S probably benign Het
Eml3 T A 19: 8,914,015 (GRCm39) F465L probably benign Het
Gm9938 T A 19: 23,701,828 (GRCm39) probably benign Het
Gpr87 G A 3: 59,086,506 (GRCm39) T333I probably damaging Het
Krt81 C A 15: 101,361,508 (GRCm39) R24L possibly damaging Het
Llgl2 T A 11: 115,735,323 (GRCm39) Y59* probably null Het
Lzic A G 4: 149,572,533 (GRCm39) E41G probably damaging Het
Mprip T A 11: 59,649,317 (GRCm39) L1007Q possibly damaging Het
Mtfr2 T A 10: 20,224,122 (GRCm39) S19T probably damaging Het
Mycbp2 A T 14: 103,393,198 (GRCm39) M3121K probably damaging Het
Myocd T A 11: 65,069,840 (GRCm39) M667L possibly damaging Het
Ncam2 A G 16: 81,314,425 (GRCm39) D467G probably damaging Het
Neb T C 2: 52,094,906 (GRCm39) N4882S probably damaging Het
Neu2 A G 1: 87,525,188 (GRCm39) D391G probably benign Het
Or5m13 T C 2: 85,749,184 (GRCm39) V305A probably benign Het
Padi6 C T 4: 140,458,268 (GRCm39) V513M probably benign Het
Pign G A 1: 105,515,701 (GRCm39) probably benign Het
Plpp2 T C 10: 79,366,371 (GRCm39) E91G possibly damaging Het
Pnp T A 14: 51,188,873 (GRCm39) V222D probably damaging Het
Pnp2 C T 14: 51,200,958 (GRCm39) R148C probably benign Het
Pramel30 T C 4: 144,057,857 (GRCm39) S155P probably benign Het
Prss38 A G 11: 59,266,434 (GRCm39) L8S possibly damaging Het
Rab5b A T 10: 128,518,809 (GRCm39) F108I probably damaging Het
Rbbp5 T A 1: 132,418,227 (GRCm39) H15Q possibly damaging Het
Rhox4f A C X: 36,789,122 (GRCm39) V15G probably benign Het
Rsl1 A C 13: 67,329,966 (GRCm39) Q138P probably damaging Het
Ryr3 T C 2: 112,630,400 (GRCm39) D2157G probably damaging Het
Secisbp2l T C 2: 125,613,376 (GRCm39) D206G probably damaging Het
Sh3pxd2b T A 11: 32,353,978 (GRCm39) I182N probably damaging Het
Slc3a1 A T 17: 85,340,288 (GRCm39) I237F probably damaging Het
Svs3b T C 2: 164,098,159 (GRCm39) E54G probably damaging Het
T A T 17: 8,658,733 (GRCm39) probably benign Het
Tenm4 A T 7: 96,542,133 (GRCm39) D1882V probably damaging Het
Tgfbr1 T A 4: 47,403,451 (GRCm39) L283* probably null Het
Tppp3 C T 8: 106,194,554 (GRCm39) A149T probably benign Het
Ubp1 T C 9: 113,802,575 (GRCm39) probably benign Het
Ushbp1 C T 8: 71,843,357 (GRCm39) C314Y probably damaging Het
Vav2 A T 2: 27,189,374 (GRCm39) probably benign Het
Vmn1r228 T C 17: 20,996,625 (GRCm39) M298V probably benign Het
Zmpste24 A T 4: 120,952,740 (GRCm39) 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
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
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'- TGCAAGCTGTGATAAAGACTCACCG -3'
(R):5'- GAGGTGTCCTGCTTCAAGGGTAAAC -3'

Sequencing Primer
(F):5'- CGCTACTAGAAGTGTCATCCAGG -3'
(R):5'- GGTAAACAGGATTCCACTATGC -3'
Posted On 2013-05-23