Incidental Mutation 'R5861:Numa1'
ID 453913
Institutional Source Beutler Lab
Gene Symbol Numa1
Ensembl Gene ENSMUSG00000066306
Gene Name nuclear mitotic apparatus protein 1
Synonyms 6720401E04Rik, NuMA
MMRRC Submission 044073-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5861 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 101583318-101664171 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to A at 101658494 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000126180 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084852] [ENSMUST00000163183]
AlphaFold E9Q7G0
Predicted Effect probably null
Transcript: ENSMUST00000084852
SMART Domains Protein: ENSMUSP00000081912
Gene: ENSMUSG00000066306

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 probably null
Transcript: ENSMUST00000163183
SMART Domains Protein: ENSMUSP00000126180
Gene: ENSMUSG00000066306

DomainStartEndE-ValueType
coiled coil region 7 73 N/A INTRINSIC
low complexity region 150 160 N/A INTRINSIC
SCOP:d1fxkc_ 164 290 7e-3 SMART
low complexity region 347 358 N/A INTRINSIC
low complexity region 506 522 N/A INTRINSIC
PDB:3RO2|B 528 555 2e-10 PDB
low complexity region 720 732 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209583
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210353
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.3%
  • 20x: 91.3%
Validation Efficiency 98% (81/83)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 G T 16: 20,218,644 (GRCm39) T246N probably damaging Het
Aopep A G 13: 63,446,626 (GRCm39) D143G probably damaging Het
Arhgap10 C T 8: 78,037,393 (GRCm39) A612T probably damaging Het
Arsg T A 11: 109,454,014 (GRCm39) F407I probably damaging Het
Asxl1 C A 2: 153,241,310 (GRCm39) A620D probably damaging Het
C2cd3 A G 7: 100,093,682 (GRCm39) probably benign Het
Chn2 G A 6: 54,267,359 (GRCm39) V92I probably damaging Het
Cog2 T C 8: 125,264,617 (GRCm39) F332S probably damaging Het
Crhbp G A 13: 95,580,333 (GRCm39) A82V probably damaging Het
Cyp2j6 A G 4: 96,434,040 (GRCm39) V90A possibly damaging Het
Dennd4c A T 4: 86,709,589 (GRCm39) M397L probably benign Het
Dnajb8 A G 6: 88,200,088 (GRCm39) D208G possibly damaging Het
Ecm1 G C 3: 95,643,909 (GRCm39) L230V probably damaging Het
Ercc2 G C 7: 19,128,066 (GRCm39) A696P possibly damaging Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Gm13035 A G 4: 146,009,859 (GRCm39) noncoding transcript Het
Gm28042 T C 2: 119,865,116 (GRCm39) V247A probably damaging Het
Gm28455 T A 7: 39,148,003 (GRCm39) noncoding transcript Het
Gpr150 A T 13: 76,204,192 (GRCm39) V251D possibly damaging Het
Grip1 C T 10: 119,765,875 (GRCm39) S69L probably damaging Het
Hs6st3 A G 14: 119,376,265 (GRCm39) I147V possibly damaging Het
Il5 G A 11: 53,614,743 (GRCm39) E102K probably benign Het
Kif1c T C 11: 70,594,621 (GRCm39) F94L probably damaging Het
Lrrc63 T C 14: 75,344,806 (GRCm39) E427G possibly damaging Het
Man1b1 A G 2: 25,238,066 (GRCm39) T384A probably benign Het
Mapk15 C A 15: 75,868,208 (GRCm39) probably benign Het
Mfsd10 T C 5: 34,791,588 (GRCm39) probably benign Het
Mgat5 C A 1: 127,315,129 (GRCm39) A285E probably damaging Het
Mroh4 T A 15: 74,478,456 (GRCm39) probably benign Het
Myf5 A T 10: 107,320,069 (GRCm39) C194S probably benign Het
Myh7 A G 14: 55,226,347 (GRCm39) V431A possibly damaging Het
Nadsyn1 A C 7: 143,364,964 (GRCm39) M247R possibly damaging Het
Nipsnap3b A G 4: 53,021,177 (GRCm39) D166G probably damaging Het
Nqo2 A T 13: 34,156,413 (GRCm39) L42F probably damaging Het
Nt5dc3 A T 10: 86,651,738 (GRCm39) D180V probably damaging Het
Olfm3 T A 3: 114,916,052 (GRCm39) L328Q probably damaging Het
Or4e1 T C 14: 52,700,953 (GRCm39) Y171C probably damaging Het
Or5w17 A T 2: 87,583,922 (GRCm39) N138K probably benign Het
Or7a37 A T 10: 78,805,765 (GRCm39) Y94F probably damaging Het
Papolb T C 5: 142,514,992 (GRCm39) N217S possibly damaging Het
Pcmtd2 C A 2: 181,484,268 (GRCm39) T26K probably damaging Het
Pld5 T G 1: 175,917,571 (GRCm39) N59H probably damaging Het
Ppm1d T C 11: 85,202,674 (GRCm39) S126P possibly damaging Het
Ppp1r21 T C 17: 88,889,937 (GRCm39) L727P probably damaging Het
Pramel20 G T 4: 143,297,810 (GRCm39) V77L probably benign Het
Prpsap2 C T 11: 61,627,870 (GRCm39) R202H probably damaging Het
Rara T A 11: 98,858,987 (GRCm39) C148* probably null Het
Rexo2 A T 9: 48,386,481 (GRCm39) I83N probably damaging Het
Rnf213 A G 11: 119,364,203 (GRCm39) R4501G probably damaging Het
Rps5 T A 7: 12,659,501 (GRCm39) F97L probably damaging Het
Sigirr G A 7: 140,671,292 (GRCm39) R397W probably damaging Het
Slc6a6 T C 6: 91,718,014 (GRCm39) Y318H probably damaging Het
Spam1 A G 6: 24,796,570 (GRCm39) T174A probably benign Het
Stam2 G T 2: 52,632,116 (GRCm39) probably benign Het
Taar7a T C 10: 23,868,337 (GRCm39) E348G probably benign Het
Taf11 T C 17: 28,120,644 (GRCm39) T209A probably benign Het
Tenm4 A G 7: 96,492,424 (GRCm39) probably benign Het
Tmed6 G T 8: 107,790,786 (GRCm39) T87K probably damaging Het
Trim5 G T 7: 103,928,726 (GRCm39) H72N probably benign Het
Trim5 A C 7: 103,928,728 (GRCm39) L71R probably benign Het
Uevld A T 7: 46,576,104 (GRCm39) S461T probably benign Het
Vmn2r6 T A 3: 64,463,454 (GRCm39) N460I probably benign Het
Ylpm1 C T 12: 85,087,660 (GRCm39) P1148L probably damaging Het
Zfp316 T C 5: 143,249,095 (GRCm39) Y180C unknown Het
Zfp941 A G 7: 140,392,052 (GRCm39) S436P probably damaging Het
Zfp979 G A 4: 147,697,966 (GRCm39) Q248* probably null Het
Zscan29 G T 2: 120,994,518 (GRCm39) T489N probably damaging 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
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
R7312:Numa1 UTSW 7 101,639,806 (GRCm39) missense possibly damaging 0.92
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'- TACCTGTGGAGACTGAGCAG -3'
(R):5'- AGGTCTGTTCAGCTTCCTTG -3'

Sequencing Primer
(F):5'- GATTGACTTCTCAGGCTTTCCAGG -3'
(R):5'- GGTCTTCAGCCCTGCCTG -3'
Posted On 2017-02-10