Incidental Mutation 'R2180:Numa1'
ID 237124
Institutional Source Beutler Lab
Gene Symbol Numa1
Ensembl Gene ENSMUSG00000066306
Gene Name nuclear mitotic apparatus protein 1
Synonyms 6720401E04Rik, NuMA
MMRRC Submission 040182-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2180 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 101583318-101664171 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 101649197 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 976 (I976T)
Ref Sequence ENSEMBL: ENSMUSP00000148098 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084852] [ENSMUST00000163183] [ENSMUST00000209639] [ENSMUST00000210475] [ENSMUST00000210679] [ENSMUST00000211272]
AlphaFold E9Q7G0
Predicted Effect probably benign
Transcript: ENSMUST00000084852
AA Change: I976T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000081912
Gene: ENSMUSG00000066306
AA Change: I976T

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 benign
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 probably benign
Transcript: ENSMUST00000209639
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210353
Predicted Effect probably benign
Transcript: ENSMUST00000210475
AA Change: I976T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000210679
Predicted Effect probably benign
Transcript: ENSMUST00000211272
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.1%
Validation Efficiency
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts5 T C 16: 85,684,812 (GRCm39) D377G probably damaging Het
Adgrl4 A T 3: 151,205,779 (GRCm39) I164F probably damaging Het
Anxa9 T C 3: 95,213,735 (GRCm39) probably null Het
Aox4 A T 1: 58,252,226 (GRCm39) T34S probably benign Het
Asic1 G T 15: 99,569,846 (GRCm39) V56F probably benign Het
Atpaf1 T C 4: 115,645,557 (GRCm39) M1T probably null Het
Axin1 A G 17: 26,362,309 (GRCm39) T218A probably benign Het
Bdp1 ATTCTTCTTCTTCTTCTTC ATTCTTCTTCTTCTTCTTCTTC 13: 100,197,913 (GRCm39) probably benign Het
Birc6 T C 17: 74,919,146 (GRCm39) I1988T probably benign Het
Btbd7 A T 12: 102,752,156 (GRCm39) D869E probably damaging Het
Caln1 T C 5: 130,868,249 (GRCm39) *220Q probably null Het
Ccdc150 G A 1: 54,311,706 (GRCm39) probably null Het
Ccnt1 A T 15: 98,441,481 (GRCm39) S596T possibly damaging Het
Cd44 C T 2: 102,658,955 (GRCm39) G640E possibly damaging Het
Cep192 A G 18: 67,957,813 (GRCm39) E582G possibly damaging Het
Clcnkb G T 4: 141,136,819 (GRCm39) probably null Het
Dhx29 T C 13: 113,099,406 (GRCm39) probably null Het
Dnah8 T C 17: 31,059,621 (GRCm39) F4407S probably benign Het
Enah A T 1: 181,746,024 (GRCm39) M419K probably damaging Het
Fancd2 A T 6: 113,551,598 (GRCm39) T1055S probably benign Het
Gigyf2 G A 1: 87,344,642 (GRCm39) G525D probably damaging Het
Gm5800 T A 14: 51,953,451 (GRCm39) K55* probably null Het
Gpr149 A G 3: 62,511,489 (GRCm39) L170P probably damaging Het
Grik4 A T 9: 42,453,301 (GRCm39) Y695N probably benign Het
Gsg1 A T 6: 135,217,143 (GRCm39) V228D probably damaging Het
Helb G A 10: 119,941,353 (GRCm39) T445M probably benign Het
Helz2 A T 2: 180,875,525 (GRCm39) D1656E probably damaging Het
Hyou1 A T 9: 44,299,316 (GRCm39) K669M probably benign Het
Itga2 T C 13: 114,985,917 (GRCm39) N953D possibly damaging Het
Ldhd T C 8: 112,356,018 (GRCm39) I122V probably benign Het
Lrrtm1 A G 6: 77,221,329 (GRCm39) D262G probably damaging Het
Mapkapk5 T C 5: 121,673,927 (GRCm39) probably null Het
Msantd5l C A 11: 51,145,437 (GRCm39) W50L probably damaging Het
Niban1 A T 1: 151,593,829 (GRCm39) H838L probably benign Het
Or10x1 A G 1: 174,196,967 (GRCm39) I161M probably damaging Het
Or2a12 C T 6: 42,904,459 (GRCm39) T98I probably benign Het
Or4f14b A G 2: 111,775,348 (GRCm39) V151A probably benign Het
Or52e4 T C 7: 104,706,092 (GRCm39) I213T probably benign Het
Patj G A 4: 98,411,739 (GRCm39) probably null Het
Pfas T C 11: 68,883,013 (GRCm39) D757G possibly damaging Het
Pom121l2 A G 13: 22,166,145 (GRCm39) N139D probably benign Het
Ppp2r3d A T 9: 101,004,214 (GRCm39) Y994* probably null Het
Ppp6c T C 2: 39,087,525 (GRCm39) D227G probably benign Het
Ptpn13 T G 5: 103,717,424 (GRCm39) H1855Q probably damaging Het
Ptprh T A 7: 4,604,867 (GRCm39) Q59L probably benign Het
Rap1gap2 T C 11: 74,283,972 (GRCm39) K669E probably benign Het
Rbl2 T C 8: 91,816,683 (GRCm39) S348P possibly damaging Het
Rptor T A 11: 119,615,970 (GRCm39) N161K probably damaging Het
Satb1 C T 17: 52,110,524 (GRCm39) A192T probably damaging Het
Scn5a A G 9: 119,345,117 (GRCm39) V1083A probably benign Het
Sec14l2 C T 11: 4,058,964 (GRCm39) A194T probably damaging Het
Sema4b A G 7: 79,862,583 (GRCm39) N53S probably benign Het
Sin3b T A 8: 73,479,923 (GRCm39) Y876* probably null Het
Smchd1 C A 17: 71,770,794 (GRCm39) M129I probably benign Het
Spmip6 T A 4: 41,507,170 (GRCm39) M209L probably benign Het
Tmc1 T C 19: 20,801,448 (GRCm39) Y484C probably damaging Het
Utp20 A G 10: 88,656,801 (GRCm39) S135P probably damaging Het
Zfp266 A T 9: 20,410,975 (GRCm39) C401S probably damaging Het
Zfp738 G A 13: 67,819,313 (GRCm39) T226I probably damaging Het
Zfp871 G A 17: 32,994,275 (GRCm39) T300M 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
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
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'- TGGCCTGTCTGAAGACCTTG -3'
(R):5'- TTCCTGTAGGGCAGCAAACTC -3'

Sequencing Primer
(F):5'- CTGTCTGAAGACCTTGGTGCTC -3'
(R):5'- TCCACACGCTGCTCATTGAGG -3'
Posted On 2014-10-02