Incidental Mutation 'R7218:Numa1'
ID 561595
Institutional Source Beutler Lab
Gene Symbol Numa1
Ensembl Gene ENSMUSG00000066306
Gene Name nuclear mitotic apparatus protein 1
Synonyms 6720401E04Rik, NuMA
MMRRC Submission 045290-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7218 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 101583318-101664171 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 101650117 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 1283 (S1283C)
Ref Sequence ENSEMBL: ENSMUSP00000081912 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084852] [ENSMUST00000163183] [ENSMUST00000209639] [ENSMUST00000210475]
AlphaFold E9Q7G0
Predicted Effect probably benign
Transcript: ENSMUST00000084852
AA Change: S1283C

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000081912
Gene: ENSMUSG00000066306
AA Change: S1283C

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 probably benign
Transcript: ENSMUST00000209639
Predicted Effect probably benign
Transcript: ENSMUST00000210475
Meta Mutation Damage Score 0.0636 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (69/69)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600014C23Rik T C 17: 46,043,977 (GRCm39) T94A unknown Het
1700025G04Rik T C 1: 151,791,259 (GRCm39) R101G probably damaging Het
6430548M08Rik T A 8: 120,872,322 (GRCm39) S83R probably damaging Het
Actn2 A G 13: 12,293,799 (GRCm39) S574P probably benign Het
Ank A T 15: 27,544,407 (GRCm39) Y56F probably damaging Het
Ano7 A G 1: 93,308,191 (GRCm39) D74G probably benign Het
Apaf1 T A 10: 90,872,864 (GRCm39) T738S probably damaging Het
Apcs A T 1: 172,722,231 (GRCm39) D38E possibly damaging Het
Asap1 G A 15: 64,002,099 (GRCm39) T404M probably damaging Het
Atp8a1 T A 5: 67,860,324 (GRCm39) D717V Het
Baiap2l1 A G 5: 144,212,687 (GRCm39) S443P probably benign Het
Bmal1 A T 7: 112,886,390 (GRCm39) H149L probably damaging Het
Brix1 T C 15: 10,483,378 (GRCm39) probably null Het
C1qtnf6 T C 15: 78,411,574 (GRCm39) E34G probably benign Het
Chil3 A C 3: 106,067,853 (GRCm39) probably null Het
Chmp4c T A 3: 10,432,198 (GRCm39) L36Q probably damaging Het
Chrna2 T A 14: 66,381,320 (GRCm39) probably null Het
Clec1a C T 6: 129,413,918 (GRCm39) C57Y probably damaging Het
Clec7a G T 6: 129,445,885 (GRCm39) T95K probably damaging Het
Csf1r C A 18: 61,263,396 (GRCm39) S926R probably damaging Het
Dnajc9 A G 14: 20,438,507 (GRCm39) I61T probably benign Het
Extl1 T G 4: 134,087,080 (GRCm39) S493R probably benign Het
Fance A G 17: 28,545,148 (GRCm39) D143G probably benign Het
Fcho2 C T 13: 98,890,121 (GRCm39) probably null Het
Filip1 T C 9: 79,725,356 (GRCm39) S1088G probably benign Het
Gnat1 A C 9: 107,553,184 (GRCm39) M319R possibly damaging Het
Gpr132 A T 12: 112,816,049 (GRCm39) V259E probably damaging Het
Gprc5d T A 6: 135,093,452 (GRCm39) M152L probably benign Het
Hif3a C T 7: 16,784,513 (GRCm39) R244H probably damaging Het
Hivep3 T C 4: 119,952,649 (GRCm39) S322P possibly damaging Het
Il33 T A 19: 29,936,325 (GRCm39) F229I probably damaging Het
Il4ra A G 7: 125,174,950 (GRCm39) D386G probably benign Het
Ino80 G T 2: 119,288,608 (GRCm39) H33N probably benign Het
Ip6k1 A G 9: 107,922,781 (GRCm39) D228G unknown Het
Mamdc2 C T 19: 23,424,974 (GRCm39) A40T probably benign Het
Meis3 T C 7: 15,918,626 (GRCm39) V357A probably benign Het
Mycbp2 T C 14: 103,371,282 (GRCm39) T4199A probably benign Het
Myo7b A T 18: 32,114,054 (GRCm39) M1099K probably benign Het
Mzb1 A T 18: 35,780,975 (GRCm39) H104Q probably benign Het
Nfatc2 A G 2: 168,413,184 (GRCm39) L167P probably benign Het
Nup98 T G 7: 101,841,107 (GRCm39) probably null Het
Or13p4 T C 4: 118,547,215 (GRCm39) I145V probably benign Het
Or5p55 T C 7: 107,566,874 (GRCm39) L90P probably benign Het
Pkhd1l1 A G 15: 44,386,091 (GRCm39) T1243A possibly damaging Het
Pramel39-ps C A 5: 94,451,113 (GRCm39) V338F probably benign Het
Ptpro C T 6: 137,431,596 (GRCm39) R1152W probably damaging Het
Ptprt T C 2: 161,389,284 (GRCm39) T1270A probably damaging Het
Pwwp2b A C 7: 138,836,049 (GRCm39) T497P probably damaging Het
Rab44 T A 17: 29,358,418 (GRCm39) V202E Het
Rbfox1 C T 16: 7,111,947 (GRCm39) T191I probably damaging Het
Rufy4 A G 1: 74,172,174 (GRCm39) K299R probably damaging Het
Snip1 T A 4: 124,966,712 (GRCm39) S381T probably damaging Het
Spen T C 4: 141,199,961 (GRCm39) I2889V possibly damaging Het
Spopfm2 A T 3: 94,082,856 (GRCm39) H318Q possibly damaging Het
St3gal3 T A 4: 117,814,639 (GRCm39) D218V Het
Sun1 A G 5: 139,212,442 (GRCm39) T70A unknown Het
Tbc1d23 C T 16: 56,990,745 (GRCm39) V678M probably damaging Het
Tdh T A 14: 63,733,206 (GRCm39) Y195F probably damaging Het
Tescl C T 7: 24,033,286 (GRCm39) R13H possibly damaging Het
Tfap2c T A 2: 172,399,277 (GRCm39) M508K probably benign Het
Trappc4 A G 9: 44,316,587 (GRCm39) M136T probably benign Het
Tyk2 A G 9: 21,016,350 (GRCm39) C1207R probably damaging Het
Ugt2b36 T C 5: 87,229,398 (GRCm39) Y355C probably damaging Het
Vmn1r119 T A 7: 20,745,572 (GRCm39) H270L probably benign Het
Vmn2r20 G A 6: 123,363,074 (GRCm39) P570L probably damaging Het
Wnk1 A C 6: 119,979,234 (GRCm39) Y284* probably null Het
Yars2 C T 16: 16,121,182 (GRCm39) A112V probably damaging Het
Zer1 T C 2: 29,995,024 (GRCm39) N470S probably damaging Het
Zfp747l1 A T 7: 126,983,852 (GRCm39) S417T probably benign Het
Zfp879 A C 11: 50,723,508 (GRCm39) V516G possibly 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
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
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'- TATCAGCAGCTTGGAAGAGG -3'
(R):5'- TGACAAAGGTGCTTGGCAGG -3'

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