Incidental Mutation 'R4619:Nolc1'
ID 386476
Institutional Source Beutler Lab
Gene Symbol Nolc1
Ensembl Gene ENSMUSG00000015176
Gene Name nucleolar and coiled-body phosphoprotein 1
Synonyms 3230402K17Rik, P130, NOPP140
MMRRC Submission 041885-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4619 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 46064302-46073969 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 46071959 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 583 (G583D)
Ref Sequence ENSEMBL: ENSMUSP00000153545 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165017] [ENSMUST00000223728] [ENSMUST00000223741] [ENSMUST00000225780] [ENSMUST00000224490]
AlphaFold E9Q5C9
Predicted Effect probably damaging
Transcript: ENSMUST00000165017
AA Change: G584D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000128331
Gene: ENSMUSG00000015176
AA Change: G584D

DomainStartEndE-ValueType
LisH 10 42 2.3e-2 SMART
low complexity region 76 100 N/A INTRINSIC
low complexity region 123 187 N/A INTRINSIC
low complexity region 189 210 N/A INTRINSIC
low complexity region 224 272 N/A INTRINSIC
low complexity region 273 285 N/A INTRINSIC
low complexity region 297 313 N/A INTRINSIC
low complexity region 315 328 N/A INTRINSIC
low complexity region 329 342 N/A INTRINSIC
low complexity region 353 383 N/A INTRINSIC
low complexity region 429 470 N/A INTRINSIC
low complexity region 472 486 N/A INTRINSIC
low complexity region 489 501 N/A INTRINSIC
low complexity region 509 538 N/A INTRINSIC
low complexity region 558 579 N/A INTRINSIC
Pfam:SRP40_C 627 699 1.1e-32 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000223683
AA Change: G583D
Predicted Effect probably damaging
Transcript: ENSMUST00000223728
AA Change: G582D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000223741
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224034
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224434
Predicted Effect probably damaging
Transcript: ENSMUST00000225780
AA Change: G583D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225758
Predicted Effect probably benign
Transcript: ENSMUST00000224490
Meta Mutation Damage Score 0.0659 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 100% (74/74)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik G A 3: 137,775,520 (GRCm39) V1570I probably damaging Het
Alx4 A G 2: 93,473,106 (GRCm39) R35G probably damaging Het
Apod T C 16: 31,116,211 (GRCm39) D173G probably benign Het
Atp8b3 G A 10: 80,361,858 (GRCm39) T731I possibly damaging Het
Birc6 A C 17: 74,947,145 (GRCm39) T2955P probably benign Het
Cdh15 G A 8: 123,587,612 (GRCm39) D179N probably damaging Het
Cntnap5c G T 17: 58,717,263 (GRCm39) V1282L probably benign Het
Crocc2 G A 1: 93,141,372 (GRCm39) R1175H probably benign Het
Dbh A G 2: 27,064,836 (GRCm39) D349G probably damaging Het
Dync1h1 A G 12: 110,605,278 (GRCm39) I2372V probably benign Het
Fer1l4 A T 2: 155,889,007 (GRCm39) W389R probably damaging Het
Fndc1 T C 17: 7,984,036 (GRCm39) T1297A unknown Het
Gart T C 16: 91,422,321 (GRCm39) N732S probably damaging Het
Gas2l2 T C 11: 83,313,924 (GRCm39) I463V probably benign Het
Gm5591 G A 7: 38,220,072 (GRCm39) S267L probably benign Het
Gzmk A G 13: 113,309,657 (GRCm39) V92A probably damaging Het
Hspg2 C T 4: 137,273,884 (GRCm39) R2680W probably damaging Het
Insyn2a A G 7: 134,520,270 (GRCm39) Y87H probably damaging Het
Kcnh3 G A 15: 99,131,982 (GRCm39) V646M probably damaging Het
Kcnk7 A C 19: 5,756,463 (GRCm39) I230L probably benign Het
Kif3b C T 2: 153,158,594 (GRCm39) R132* probably null Het
Klra5 T C 6: 129,885,776 (GRCm39) S128G probably benign Het
Krba1 C T 6: 48,383,282 (GRCm39) R4* probably null Het
Krt1c T A 15: 101,726,026 (GRCm39) I171F probably damaging Het
Lss A G 10: 76,372,089 (GRCm39) D148G probably benign Het
Mavs G T 2: 131,082,370 (GRCm39) A85S probably damaging Het
Mipep T C 14: 61,140,865 (GRCm39) C566R probably damaging Het
Myocd T A 11: 65,069,254 (GRCm39) probably benign Het
Ndufa9 C T 6: 126,804,498 (GRCm39) probably null Het
Nucb2 T C 7: 116,127,059 (GRCm39) probably null Het
Or1i2 T C 10: 78,448,409 (GRCm39) D22G probably benign Het
Or52e19 C T 7: 102,959,165 (GRCm39) T79I probably benign Het
Or5p63 A T 7: 107,811,301 (GRCm39) I145N possibly damaging Het
Pank4 C A 4: 155,061,076 (GRCm39) D508E probably benign Het
Phb1 T A 11: 95,562,416 (GRCm39) probably benign Het
Pign T A 1: 105,449,715 (GRCm39) probably benign Het
Plec T C 15: 76,076,382 (GRCm39) K349E probably benign Het
Ppp1r3c A T 19: 36,711,743 (GRCm39) V9E possibly damaging Het
Rap1gap T A 4: 137,443,422 (GRCm39) V130D probably damaging Het
Senp3 T A 11: 69,567,944 (GRCm39) Y432F probably benign Het
Serpina3f T C 12: 104,183,549 (GRCm39) I137T possibly damaging Het
Slc46a3 T A 5: 147,823,540 (GRCm39) K101* probably null Het
Snph G A 2: 151,436,434 (GRCm39) Q96* probably null Het
Sptb A T 12: 76,630,581 (GRCm39) C2244* probably null Het
Srbd1 A T 17: 86,416,693 (GRCm39) F488L probably benign Het
Ssc5d A T 7: 4,932,524 (GRCm39) H396L probably damaging Het
Sulf1 A C 1: 12,856,876 (GRCm39) R42S probably damaging Het
Taf1a T A 1: 183,181,752 (GRCm39) probably benign Het
Thoc5 T A 11: 4,876,218 (GRCm39) M609K probably damaging Het
Tiam2 A T 17: 3,568,617 (GRCm39) I1588F probably damaging Het
Tmcc1 C T 6: 116,020,247 (GRCm39) V402I probably damaging Het
Tmprss15 T C 16: 78,818,358 (GRCm39) D524G probably damaging Het
Trbv31 T C 6: 41,534,901 (GRCm39) I21V probably benign Het
Vmn1r74 A T 7: 11,581,398 (GRCm39) T233S possibly damaging Het
Vmn1r74 G C 7: 11,581,403 (GRCm39) Q234H probably damaging Het
Vsx1 A T 2: 150,530,529 (GRCm39) S118T probably benign Het
Wnt9b G A 11: 103,621,949 (GRCm39) T236I probably benign Het
Zbtb21 T C 16: 97,751,092 (GRCm39) T1092A possibly damaging Het
Zc3hc1 G A 6: 30,387,523 (GRCm39) T52I probably benign Het
Zfp558 T A 9: 18,367,577 (GRCm39) N404Y possibly damaging Het
Zfp735 A T 11: 73,602,031 (GRCm39) D325V probably damaging Het
Zhx3 A T 2: 160,623,879 (GRCm39) M96K probably damaging Het
Other mutations in Nolc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02679:Nolc1 APN 19 46,071,468 (GRCm39) unclassified probably benign
FR4976:Nolc1 UTSW 19 46,069,814 (GRCm39) small insertion probably benign
FR4976:Nolc1 UTSW 19 46,069,795 (GRCm39) small insertion probably benign
R0106:Nolc1 UTSW 19 46,068,528 (GRCm39) splice site probably benign
R0121:Nolc1 UTSW 19 46,069,817 (GRCm39) unclassified probably benign
R0140:Nolc1 UTSW 19 46,069,817 (GRCm39) unclassified probably benign
R0501:Nolc1 UTSW 19 46,067,359 (GRCm39) missense probably damaging 1.00
R0513:Nolc1 UTSW 19 46,072,598 (GRCm39) missense probably damaging 1.00
R0676:Nolc1 UTSW 19 46,068,528 (GRCm39) splice site probably benign
R1553:Nolc1 UTSW 19 46,069,814 (GRCm39) small insertion probably benign
R1642:Nolc1 UTSW 19 46,067,461 (GRCm39) critical splice donor site probably null
R1698:Nolc1 UTSW 19 46,069,870 (GRCm39) splice site probably null
R2067:Nolc1 UTSW 19 46,072,046 (GRCm39) missense probably damaging 1.00
R2113:Nolc1 UTSW 19 46,069,800 (GRCm39) small insertion probably benign
R2113:Nolc1 UTSW 19 46,069,798 (GRCm39) small insertion probably benign
R2300:Nolc1 UTSW 19 46,069,807 (GRCm39) small insertion probably benign
R2300:Nolc1 UTSW 19 46,069,798 (GRCm39) small insertion probably benign
R2895:Nolc1 UTSW 19 46,069,791 (GRCm39) small insertion probably benign
R2999:Nolc1 UTSW 19 46,071,594 (GRCm39) small deletion probably benign
R3737:Nolc1 UTSW 19 46,069,816 (GRCm39) small insertion probably benign
R3737:Nolc1 UTSW 19 46,069,792 (GRCm39) small insertion probably benign
R3737:Nolc1 UTSW 19 46,069,809 (GRCm39) small insertion probably benign
R3747:Nolc1 UTSW 19 46,069,795 (GRCm39) small insertion probably benign
R3806:Nolc1 UTSW 19 46,069,791 (GRCm39) small insertion probably benign
R3807:Nolc1 UTSW 19 46,069,791 (GRCm39) small insertion probably benign
R3807:Nolc1 UTSW 19 46,069,798 (GRCm39) small insertion probably benign
R3807:Nolc1 UTSW 19 46,069,810 (GRCm39) small insertion probably benign
R4035:Nolc1 UTSW 19 46,069,797 (GRCm39) small insertion probably benign
R4856:Nolc1 UTSW 19 46,071,594 (GRCm39) small deletion probably benign
R4999:Nolc1 UTSW 19 46,067,359 (GRCm39) missense probably damaging 1.00
R5103:Nolc1 UTSW 19 46,070,103 (GRCm39) nonsense probably null
R5559:Nolc1 UTSW 19 46,071,594 (GRCm39) small deletion probably benign
R5837:Nolc1 UTSW 19 46,071,622 (GRCm39) unclassified probably benign
R6457:Nolc1 UTSW 19 46,071,509 (GRCm39) unclassified probably benign
R7467:Nolc1 UTSW 19 46,070,773 (GRCm39) missense unknown
R7497:Nolc1 UTSW 19 46,071,257 (GRCm39) missense probably benign 0.23
R8011:Nolc1 UTSW 19 46,070,023 (GRCm39) missense unknown
R8806:Nolc1 UTSW 19 46,071,471 (GRCm39) missense unknown
RF027:Nolc1 UTSW 19 46,069,802 (GRCm39) small insertion probably benign
RF031:Nolc1 UTSW 19 46,069,810 (GRCm39) small insertion probably benign
RF034:Nolc1 UTSW 19 46,069,810 (GRCm39) small insertion probably benign
RF040:Nolc1 UTSW 19 46,069,802 (GRCm39) small insertion probably benign
RF044:Nolc1 UTSW 19 46,069,810 (GRCm39) small insertion probably benign
X0050:Nolc1 UTSW 19 46,069,791 (GRCm39) small deletion probably benign
Y5377:Nolc1 UTSW 19 46,069,808 (GRCm39) small insertion probably benign
Y5379:Nolc1 UTSW 19 46,069,798 (GRCm39) small insertion probably benign
Z1088:Nolc1 UTSW 19 46,071,537 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- GACCAAGCCAGGCATGTATC -3'
(R):5'- TCCCTAGAGAAGAATGCAGTAAACG -3'

Sequencing Primer
(F):5'- CAAGCCAGGCATGTATCTGTGG -3'
(R):5'- GCTCTTCTTAAAAGCACCCG -3'
Posted On 2016-06-03