Incidental Mutation 'R7312:Numa1'
ID 567670
Institutional Source Beutler Lab
Gene Symbol Numa1
Ensembl Gene ENSMUSG00000066306
Gene Name nuclear mitotic apparatus protein 1
Synonyms 6720401E04Rik, NuMA
MMRRC Submission 045410-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7312 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 101583318-101664171 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 101639806 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 52 (I52T)
Ref Sequence ENSEMBL: ENSMUSP00000081912 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084852] [ENSMUST00000209639] [ENSMUST00000210475] [ENSMUST00000210679] [ENSMUST00000211272]
AlphaFold E9Q7G0
Predicted Effect possibly damaging
Transcript: ENSMUST00000084852
AA Change: I52T

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000081912
Gene: ENSMUSG00000066306
AA Change: I52T

DomainStartEndE-ValueType
low complexity region 187 201 N/A INTRINSIC
coiled coil region 211 249 N/A INTRINSIC
coiled coil region 274 818 N/A INTRINSIC
low complexity region 856 869 N/A INTRINSIC
internal_repeat_1 910 933 6.03e-6 PROSPERO
internal_repeat_2 911 951 2.35e-5 PROSPERO
low complexity region 979 992 N/A INTRINSIC
low complexity region 1002 1018 N/A INTRINSIC
low complexity region 1063 1081 N/A INTRINSIC
internal_repeat_5 1094 1116 4.63e-5 PROSPERO
low complexity region 1130 1138 N/A INTRINSIC
low complexity region 1220 1233 N/A INTRINSIC
low complexity region 1271 1289 N/A INTRINSIC
low complexity region 1364 1374 N/A INTRINSIC
coiled coil region 1464 1681 N/A INTRINSIC
low complexity region 1700 1711 N/A INTRINSIC
internal_repeat_3 1718 1755 4.63e-5 PROSPERO
internal_repeat_4 1777 1819 4.63e-5 PROSPERO
internal_repeat_3 1800 1842 4.63e-5 PROSPERO
internal_repeat_4 1811 1854 4.63e-5 PROSPERO
low complexity region 1859 1875 N/A INTRINSIC
PDB:3RO2|B 1881 1908 3e-13 PDB
internal_repeat_2 1938 1977 2.35e-5 PROSPERO
internal_repeat_5 1973 1995 4.63e-5 PROSPERO
internal_repeat_1 2020 2043 6.03e-6 PROSPERO
low complexity region 2073 2085 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000209639
AA Change: I52T

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000210475
AA Change: I52T

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably damaging
Transcript: ENSMUST00000210679
AA Change: I52T

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000211272
AA Change: I52T

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
Meta Mutation Damage Score 0.1050 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (60/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a large protein that forms a structural component of the nuclear matrix. The encoded protein interacts with microtubules and plays a role in the formation and organization of the mitotic spindle during cell division. Chromosomal translocation of this gene with the RARA (retinoic acid receptor, alpha) gene on chromosome 17 have been detected in patients with acute promyelocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]
PHENOTYPE: Mice homozygous for a knock-out or hypomorphic allele exhibit embryonic lethality by E9.5. [provided by MGI curators]
Allele List at MGI

All alleles(97) : Targeted, knock-out(1) Targeted, other(2) Gene trapped(94)

Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933434E20Rik T C 3: 89,969,021 (GRCm39) S215P probably benign Het
Ano2 C T 6: 126,016,460 (GRCm39) Q998* probably null Het
Atg9a A T 1: 75,164,736 (GRCm39) V76E probably damaging Het
Cacna1c T C 6: 119,034,172 (GRCm39) I118M Het
Cacna1g T A 11: 94,323,383 (GRCm39) I1274F probably damaging Het
Cd300lg C T 11: 101,937,767 (GRCm39) A199V probably benign Het
Cfap61 C T 2: 145,887,390 (GRCm39) R612* probably null Het
Cpeb4 A T 11: 31,881,417 (GRCm39) Y692F probably damaging Het
Dcun1d1 A G 3: 35,951,940 (GRCm39) probably null Het
Dennd2d T A 3: 106,398,579 (GRCm39) M188K probably benign Het
Dmgdh A G 13: 93,845,354 (GRCm39) probably null Het
Efl1 T A 7: 82,330,652 (GRCm39) M275K probably benign Het
Erp29 G T 5: 121,583,392 (GRCm39) A178D probably benign Het
Fbn1 T C 2: 125,308,594 (GRCm39) N156S possibly damaging Het
Frrs1 C T 3: 116,675,426 (GRCm39) T118I probably damaging Het
Frrs1l A G 4: 56,968,230 (GRCm39) W181R probably benign Het
Gprc5b C A 7: 118,583,482 (GRCm39) W129L probably damaging Het
Hoxc9 A G 15: 102,890,593 (GRCm39) H170R probably benign Het
Il12rb2 C T 6: 67,333,617 (GRCm39) D221N probably benign Het
Lmo1 T C 7: 108,742,819 (GRCm39) N28S probably benign Het
Lrrfip2 T A 9: 111,006,525 (GRCm39) probably null Het
Macf1 A T 4: 123,400,130 (GRCm39) F722I probably damaging Het
Mical1 T C 10: 41,355,772 (GRCm39) probably null Het
Mtcl3 A G 10: 29,073,240 (GRCm39) Y844C probably damaging Het
Mtmr11 C T 3: 96,071,855 (GRCm39) T223M possibly damaging Het
Mup21 A G 4: 62,068,468 (GRCm39) V66A probably benign Het
Nav2 C A 7: 49,111,672 (GRCm39) A726D possibly damaging Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Nudt21 A T 8: 94,746,227 (GRCm39) V157D probably benign Het
Obscn T C 11: 58,946,442 (GRCm39) D4421G probably benign Het
Oog3 T C 4: 143,886,801 (GRCm39) I106M probably benign Het
Or10g9 A T 9: 39,912,106 (GRCm39) V139E probably benign Het
Or2g25 T C 17: 37,970,403 (GRCm39) T274A possibly damaging Het
Or2z9 T C 8: 72,853,793 (GRCm39) L63P probably damaging Het
Or51f1 T A 7: 102,505,706 (GRCm39) Y261F probably damaging Het
Or5w20 T G 2: 87,726,755 (GRCm39) C71G possibly damaging Het
Orai2 T A 5: 136,179,437 (GRCm39) I199F probably damaging Het
P2rx5 C A 11: 73,055,692 (GRCm39) L50M probably damaging Het
Pdia2 T C 17: 26,416,634 (GRCm39) E215G possibly damaging Het
Pds5a A T 5: 65,823,570 (GRCm39) S74T possibly damaging Het
Phlpp2 A G 8: 110,666,785 (GRCm39) S1105G probably damaging Het
Pi4kb T A 3: 94,891,888 (GRCm39) D189E probably benign Het
Pigw G A 11: 84,768,585 (GRCm39) T248M probably damaging Het
Pnlip T A 19: 58,670,134 (GRCm39) V458D probably damaging Het
Ppm1l G A 3: 69,225,044 (GRCm39) V49I probably benign Het
Prl3b1 T A 13: 27,426,473 (GRCm39) M1K probably null Het
Rad1 T A 15: 10,493,367 (GRCm39) C265S probably benign Het
Rnaset2b C T 17: 7,265,427 (GRCm39) S237F probably benign Het
Rtl1 C T 12: 109,561,672 (GRCm39) A56T unknown Het
S1pr2 T C 9: 20,879,238 (GRCm39) I197V probably benign Het
Smyd4 A G 11: 75,281,082 (GRCm39) Q185R probably benign Het
Sox5 T A 6: 144,100,759 (GRCm39) T77S probably benign Het
Sox7 A G 14: 64,185,291 (GRCm39) Y109C probably damaging Het
Styxl2 C T 1: 165,954,676 (GRCm39) V25I probably damaging Het
Tln1 G A 4: 43,545,922 (GRCm39) R898C probably damaging Het
Tmprss11b T A 5: 86,812,173 (GRCm39) E158V probably damaging Het
Tnpo3 C A 6: 29,562,875 (GRCm39) R614L possibly damaging Het
Vmn2r100 T A 17: 19,742,296 (GRCm39) D223E probably benign Het
Zc3h12d A T 10: 7,743,345 (GRCm39) M372L probably benign Het
Zfp28 G T 7: 6,386,593 (GRCm39) probably benign Het
Zfp963 A T 8: 70,195,759 (GRCm39) H231Q probably damaging Het
Zscan4b A G 7: 10,634,867 (GRCm39) S459P probably benign Het
Other mutations in Numa1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00509:Numa1 APN 7 101,662,493 (GRCm39) missense possibly damaging 0.95
IGL00819:Numa1 APN 7 101,641,917 (GRCm39) missense possibly damaging 0.90
IGL01103:Numa1 APN 7 101,650,778 (GRCm39) missense probably benign 0.01
IGL01153:Numa1 APN 7 101,643,951 (GRCm39) missense probably damaging 1.00
IGL01954:Numa1 APN 7 101,645,300 (GRCm39) nonsense probably null
IGL02114:Numa1 APN 7 101,661,083 (GRCm39) unclassified probably benign
IGL02245:Numa1 APN 7 101,649,601 (GRCm39) missense probably benign 0.02
IGL02259:Numa1 APN 7 101,636,955 (GRCm39) missense possibly damaging 0.93
IGL02313:Numa1 APN 7 101,649,439 (GRCm39) nonsense probably null
IGL02316:Numa1 APN 7 101,650,577 (GRCm39) missense probably damaging 1.00
IGL02386:Numa1 APN 7 101,656,739 (GRCm39) missense probably benign 0.00
IGL02517:Numa1 APN 7 101,661,216 (GRCm39) missense probably benign 0.01
IGL02529:Numa1 APN 7 101,649,160 (GRCm39) splice site probably null
IGL02664:Numa1 APN 7 101,648,109 (GRCm39) missense possibly damaging 0.83
IGL02721:Numa1 APN 7 101,649,118 (GRCm39) missense probably benign 0.01
IGL02816:Numa1 APN 7 101,645,307 (GRCm39) missense probably damaging 1.00
IGL03126:Numa1 APN 7 101,649,874 (GRCm39) nonsense probably null
meltdown UTSW 7 101,639,778 (GRCm39) critical splice acceptor site probably null
1mM(1):Numa1 UTSW 7 101,643,922 (GRCm39) missense probably benign 0.06
PIT4651001:Numa1 UTSW 7 101,663,141 (GRCm39) missense probably damaging 0.97
R0047:Numa1 UTSW 7 101,658,660 (GRCm39) missense probably damaging 1.00
R0047:Numa1 UTSW 7 101,658,660 (GRCm39) missense probably damaging 1.00
R0548:Numa1 UTSW 7 101,644,731 (GRCm39) missense possibly damaging 0.86
R0554:Numa1 UTSW 7 101,644,731 (GRCm39) missense possibly damaging 0.86
R0592:Numa1 UTSW 7 101,663,104 (GRCm39) missense probably benign
R0669:Numa1 UTSW 7 101,648,884 (GRCm39) missense probably benign
R0856:Numa1 UTSW 7 101,648,155 (GRCm39) missense probably damaging 1.00
R1072:Numa1 UTSW 7 101,650,357 (GRCm39) splice site probably null
R1776:Numa1 UTSW 7 101,660,257 (GRCm39) missense probably damaging 1.00
R1898:Numa1 UTSW 7 101,641,927 (GRCm39) critical splice donor site probably null
R1969:Numa1 UTSW 7 101,658,529 (GRCm39) missense probably damaging 0.98
R1970:Numa1 UTSW 7 101,658,529 (GRCm39) missense probably damaging 0.98
R1971:Numa1 UTSW 7 101,658,529 (GRCm39) missense probably damaging 0.98
R2180:Numa1 UTSW 7 101,649,197 (GRCm39) missense probably benign 0.00
R2256:Numa1 UTSW 7 101,649,998 (GRCm39) missense probably damaging 0.99
R2257:Numa1 UTSW 7 101,649,998 (GRCm39) missense probably damaging 0.99
R2508:Numa1 UTSW 7 101,644,731 (GRCm39) missense possibly damaging 0.86
R2958:Numa1 UTSW 7 101,658,702 (GRCm39) missense possibly damaging 0.92
R4210:Numa1 UTSW 7 101,658,945 (GRCm39) missense probably damaging 1.00
R4211:Numa1 UTSW 7 101,658,945 (GRCm39) missense probably damaging 1.00
R4643:Numa1 UTSW 7 101,649,872 (GRCm39) splice site probably null
R4783:Numa1 UTSW 7 101,662,773 (GRCm39) missense probably damaging 1.00
R4823:Numa1 UTSW 7 101,645,244 (GRCm39) missense probably damaging 1.00
R4908:Numa1 UTSW 7 101,662,012 (GRCm39) missense probably damaging 1.00
R4934:Numa1 UTSW 7 101,660,064 (GRCm39) missense probably benign 0.32
R4981:Numa1 UTSW 7 101,641,881 (GRCm39) missense probably damaging 1.00
R5120:Numa1 UTSW 7 101,626,644 (GRCm39) missense probably damaging 0.99
R5122:Numa1 UTSW 7 101,662,976 (GRCm39) missense probably damaging 1.00
R5210:Numa1 UTSW 7 101,649,188 (GRCm39) missense probably benign 0.03
R5230:Numa1 UTSW 7 101,644,731 (GRCm39) missense possibly damaging 0.86
R5547:Numa1 UTSW 7 101,663,137 (GRCm39) missense probably damaging 1.00
R5861:Numa1 UTSW 7 101,658,494 (GRCm39) splice site probably null
R6006:Numa1 UTSW 7 101,641,926 (GRCm39) critical splice donor site probably null
R6031:Numa1 UTSW 7 101,661,219 (GRCm39) missense possibly damaging 0.86
R6031:Numa1 UTSW 7 101,661,219 (GRCm39) missense possibly damaging 0.86
R6295:Numa1 UTSW 7 101,649,974 (GRCm39) missense probably benign 0.03
R6322:Numa1 UTSW 7 101,650,127 (GRCm39) missense probably damaging 1.00
R6413:Numa1 UTSW 7 101,639,778 (GRCm39) critical splice acceptor site probably null
R6786:Numa1 UTSW 7 101,641,845 (GRCm39) missense probably benign 0.05
R7218:Numa1 UTSW 7 101,650,117 (GRCm39) missense probably benign 0.02
R7374:Numa1 UTSW 7 101,658,335 (GRCm39) missense probably benign 0.00
R7626:Numa1 UTSW 7 101,648,630 (GRCm39) missense probably benign 0.42
R7769:Numa1 UTSW 7 101,648,207 (GRCm39) missense possibly damaging 0.77
R7830:Numa1 UTSW 7 101,648,492 (GRCm39) missense probably benign 0.03
R7886:Numa1 UTSW 7 101,663,072 (GRCm39) missense probably benign 0.27
R7935:Numa1 UTSW 7 101,651,538 (GRCm39) missense probably damaging 0.96
R8134:Numa1 UTSW 7 101,650,834 (GRCm39) missense probably benign 0.14
R8143:Numa1 UTSW 7 101,648,891 (GRCm39) missense possibly damaging 0.82
R8217:Numa1 UTSW 7 101,641,876 (GRCm39) missense possibly damaging 0.66
R8263:Numa1 UTSW 7 101,648,491 (GRCm39) missense probably benign 0.03
R8536:Numa1 UTSW 7 101,650,787 (GRCm39) missense probably damaging 0.96
R8677:Numa1 UTSW 7 101,650,148 (GRCm39) missense probably damaging 0.99
R8683:Numa1 UTSW 7 101,626,617 (GRCm39) start codon destroyed probably null 0.09
R8786:Numa1 UTSW 7 101,647,616 (GRCm39) missense probably benign 0.45
R8855:Numa1 UTSW 7 101,639,835 (GRCm39) missense possibly damaging 0.92
R8881:Numa1 UTSW 7 101,650,684 (GRCm39) missense probably benign 0.01
R9127:Numa1 UTSW 7 101,641,869 (GRCm39) missense possibly damaging 0.90
R9153:Numa1 UTSW 7 101,649,118 (GRCm39) missense probably benign 0.01
R9214:Numa1 UTSW 7 101,650,139 (GRCm39) missense probably damaging 0.99
R9294:Numa1 UTSW 7 101,662,003 (GRCm39) missense probably damaging 1.00
R9294:Numa1 UTSW 7 101,644,623 (GRCm39) missense possibly damaging 0.77
RF013:Numa1 UTSW 7 101,648,987 (GRCm39) missense probably damaging 0.99
Z1088:Numa1 UTSW 7 101,647,609 (GRCm39) missense probably benign 0.27
Z1088:Numa1 UTSW 7 101,647,538 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CGCCACACATTTTCATCAGAG -3'
(R):5'- GTAAGCTGGTGGTGCAGTTAAC -3'

Sequencing Primer
(F):5'- GCCACACATTTTCATCAGAGTAAAG -3'
(R):5'- GTGGTGCAGTTAACTCAAGACCC -3'
Posted On 2019-06-26