Incidental Mutation 'R4458:Nol4'
ID 330042
Institutional Source Beutler Lab
Gene Symbol Nol4
Ensembl Gene ENSMUSG00000041923
Gene Name nucleolar protein 4
Synonyms 1700013J13Rik, LOC383304, 4930568N03Rik
MMRRC Submission 041718-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.452) question?
Stock # R4458 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 22826238-23174710 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 22885052 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 419 (I419V)
Ref Sequence ENSEMBL: ENSMUSP00000080150 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081423] [ENSMUST00000097651] [ENSMUST00000164186] [ENSMUST00000164893]
AlphaFold P60954
Predicted Effect unknown
Transcript: ENSMUST00000069215
AA Change: I273V
SMART Domains Protein: ENSMUSP00000064166
Gene: ENSMUSG00000041923
AA Change: I273V

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: I419V

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000080150
Gene: ENSMUSG00000041923
AA Change: I419V

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: I209V
SMART Domains Protein: ENSMUSP00000089642
Gene: ENSMUSG00000041923
AA Change: I209V

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 possibly damaging
Transcript: ENSMUST00000097651
AA Change: I428V

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000095256
Gene: ENSMUSG00000041923
AA Change: I428V

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 damaging
Transcript: ENSMUST00000164186
AA Change: I492V

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000130950
Gene: ENSMUSG00000041923
AA Change: I492V

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 damaging
Transcript: ENSMUST00000164893
AA Change: I428V

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000127870
Gene: ENSMUSG00000041923
AA Change: I428V

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630076J17Rik G A 3: 107,139,997 (GRCm39) probably null Het
Akap13 A G 7: 75,389,213 (GRCm39) D2377G probably damaging Het
Ankrd44 A T 1: 54,801,550 (GRCm39) I56N possibly damaging Het
Apob T A 12: 8,065,445 (GRCm39) I4105N probably damaging Het
Arhgap5 T A 12: 52,564,740 (GRCm39) N570K probably benign Het
Arid1b A T 17: 5,293,191 (GRCm39) Q703L probably damaging Het
Atp4a G A 7: 30,419,650 (GRCm39) R671Q probably benign Het
Cad T A 5: 31,218,570 (GRCm39) V499D probably damaging Het
Cdkn2d C G 9: 21,202,185 (GRCm39) V21L probably benign Het
Celsr2 A C 3: 108,302,313 (GRCm39) I2605S probably damaging Het
Chd6 T A 2: 160,871,796 (GRCm39) Y213F possibly damaging Het
Clec18a T A 8: 111,802,102 (GRCm39) T296S probably damaging Het
Crybg2 C T 4: 133,802,205 (GRCm39) P1122S probably benign Het
Cyld G T 8: 89,445,929 (GRCm39) S309I probably benign Het
Dctn5 G T 7: 121,734,303 (GRCm39) R49L probably damaging Het
Egr2 GAA GA 10: 67,375,733 (GRCm39) probably null Het
Erbin C A 13: 103,970,065 (GRCm39) V1184F probably damaging Het
Ercc2 G T 7: 19,127,771 (GRCm39) R406L probably damaging Het
Eya1 C T 1: 14,253,420 (GRCm39) V519M probably damaging Het
Flad1 T C 3: 89,316,241 (GRCm39) H107R probably benign Het
Fsip2 G T 2: 82,821,120 (GRCm39) A5618S possibly damaging Het
Gabbr1 G T 17: 37,378,667 (GRCm39) probably null Het
Haghl A T 17: 26,003,994 (GRCm39) V30E probably damaging Het
Itga5 C T 15: 103,258,630 (GRCm39) E822K probably damaging Het
Klhl26 T A 8: 70,905,342 (GRCm39) E108D possibly damaging Het
Kpnb1 A T 11: 97,059,996 (GRCm39) L558Q probably damaging Het
Lias T C 5: 65,551,383 (GRCm39) probably null Het
Ltbp1 A T 17: 75,583,502 (GRCm39) K434M possibly damaging Het
Marchf1 C A 8: 66,908,823 (GRCm39) A177E probably damaging Het
Naip2 T A 13: 100,291,419 (GRCm39) H1173L probably benign Het
Nol6 A G 4: 41,115,888 (GRCm39) L1068P probably damaging Het
Nrcam T C 12: 44,606,513 (GRCm39) S420P probably damaging Het
Or10c1 A T 17: 37,522,204 (GRCm39) I180N possibly damaging Het
Pitpnm2 T C 5: 124,259,439 (GRCm39) T1299A probably benign Het
Prdm16 A G 4: 154,406,765 (GRCm39) V1220A probably benign Het
Saraf T C 8: 34,621,870 (GRCm39) S25P unknown Het
Serpine3 C A 14: 62,911,922 (GRCm39) L295I probably damaging Het
Sntb2 G A 8: 107,718,239 (GRCm39) probably null Het
Surf6 T C 2: 26,782,721 (GRCm39) E202G probably benign Het
Tent5a T C 9: 85,208,527 (GRCm39) I99V possibly damaging Het
Th A T 7: 142,450,690 (GRCm39) D135E probably benign Het
Traf1 A G 2: 34,835,445 (GRCm39) Y326H probably damaging Het
Tshz2 G A 2: 169,727,008 (GRCm39) A66T probably benign Het
Ttn T C 2: 76,777,257 (GRCm39) M1382V probably benign Het
Ubqlnl A G 7: 103,798,396 (GRCm39) V367A probably benign Het
Uspl1 T A 5: 149,150,962 (GRCm39) S707T possibly damaging Het
Utp18 A G 11: 93,761,359 (GRCm39) S350P possibly damaging Het
Vmn1r177 A G 7: 23,565,645 (GRCm39) V77A possibly damaging Het
Vmn1r229 A G 17: 21,034,894 (GRCm39) I46M probably damaging Het
Vnn3 T C 10: 23,741,567 (GRCm39) Y291H probably benign Het
Vps9d1 A G 8: 123,974,487 (GRCm39) S267P probably benign Het
Wrn T A 8: 33,785,026 (GRCm39) T692S probably damaging Het
Yeats2 T C 16: 20,032,071 (GRCm39) I19T probably damaging Het
Zfp13 G A 17: 23,800,150 (GRCm39) A36V 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
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'- TCTCGATCATCAGAGCATAGC -3'
(R):5'- GGTGCATCTGTGTAGCAGCTATAG -3'

Sequencing Primer
(F):5'- CGATCATCAGAGCATAGCATTTTTC -3'
(R):5'- GCTATAGCTCTAACCTCTAACTAGC -3'
Posted On 2015-07-21