Incidental Mutation 'R8683:Numa1'
ID 661875
Institutional Source Beutler Lab
Gene Symbol Numa1
Ensembl Gene ENSMUSG00000066306
Gene Name nuclear mitotic apparatus protein 1
Synonyms 6720401E04Rik, NuMA
MMRRC Submission 068538-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8683 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 101583318-101664171 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to G at 101626617 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 1 (M1R)
Ref Sequence ENSEMBL: ENSMUSP00000081912 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084852] [ENSMUST00000209639] [ENSMUST00000210475] [ENSMUST00000210679] [ENSMUST00000211272]
AlphaFold E9Q7G0
Predicted Effect probably null
Transcript: ENSMUST00000084852
AA Change: M1R

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000081912
Gene: ENSMUSG00000066306
AA Change: M1R

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: ENSMUST00000209639
AA Change: M1R

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably null
Transcript: ENSMUST00000210475
AA Change: M1R

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably null
Transcript: ENSMUST00000210679
AA Change: M1R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably null
Transcript: ENSMUST00000211272
AA Change: M1R

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 A G 8: 111,768,881 (GRCm39) D227G possibly damaging Het
Actl11 T A 9: 107,806,065 (GRCm39) D129E probably benign Het
Adam12 T A 7: 133,491,929 (GRCm39) E877D possibly damaging Het
Adarb2 T A 13: 8,807,395 (GRCm39) V732E probably damaging Het
Adcy1 T C 11: 7,111,328 (GRCm39) I873T probably damaging Het
Adgrg1 C T 8: 95,736,276 (GRCm39) H477Y probably damaging Het
Ahctf1 T C 1: 179,623,321 (GRCm39) E99G possibly damaging Het
Ankk1 T A 9: 49,329,292 (GRCm39) M93L Het
Ankmy1 A T 1: 92,812,972 (GRCm39) L446M possibly damaging Het
Anxa10 T A 8: 62,510,825 (GRCm39) Y309F probably damaging Het
Arg2 C T 12: 79,196,794 (GRCm39) Q172* probably null Het
Atp6v0a4 T A 6: 38,025,926 (GRCm39) *834L probably null Het
Avl9 T A 6: 56,730,378 (GRCm39) S574T probably benign Het
AW551984 G A 9: 39,511,005 (GRCm39) T194I possibly damaging Het
Azin1 G A 15: 38,493,775 (GRCm39) L283F probably damaging Het
Birc6 G A 17: 74,916,114 (GRCm39) A1677T possibly damaging Het
Carm1 A T 9: 21,497,464 (GRCm39) D342V possibly damaging Het
Ccr4 T C 9: 114,321,216 (GRCm39) D283G probably damaging Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Het
Cntn2 A T 1: 132,450,731 (GRCm39) L548Q probably damaging Het
Copg1 A G 6: 87,869,637 (GRCm39) D172G probably damaging Het
Cyp2j12 T A 4: 96,009,805 (GRCm39) N185Y probably benign Het
Dapk3 T C 10: 81,026,069 (GRCm39) L120P probably damaging Het
Dclre1b A C 3: 103,711,298 (GRCm39) S204R probably damaging Het
Dennd2a G A 6: 39,500,137 (GRCm39) R143* probably null Het
Dnah5 A T 15: 28,289,367 (GRCm39) E1185D probably benign Het
Dop1b C T 16: 93,568,699 (GRCm39) T1587I probably damaging Het
Dop1b A G 16: 93,570,809 (GRCm39) T1603A probably benign Het
Dym T A 18: 75,363,089 (GRCm39) V531E probably damaging Het
Dync2i1 G T 12: 116,193,262 (GRCm39) D563E probably benign Het
Ecpas T C 4: 58,834,515 (GRCm39) S788G probably benign Het
Eif2b4 A T 5: 31,345,274 (GRCm39) F453L probably damaging Het
Entpd8 G A 2: 24,974,992 (GRCm39) G441D probably damaging Het
Galnt6 A T 15: 100,592,603 (GRCm39) Y535N probably damaging Het
Garin2 TGATGTCACAGATGTCAC TGATGTCAC 12: 78,762,057 (GRCm39) probably benign Het
Gm10340 T A 14: 14,826,748 (GRCm39) D72E possibly damaging Het
Gm13102 T A 4: 143,835,680 (GRCm39) D449E probably damaging Het
Hdac9 T A 12: 34,440,220 (GRCm39) K386N probably damaging Het
Hgs T A 11: 120,366,044 (GRCm39) C212* probably null Het
Hoxa2 C A 6: 52,141,540 (GRCm39) A29S possibly damaging Het
Ifnar1 T A 16: 91,296,332 (GRCm39) W278R probably damaging Het
Irf7 C T 7: 140,843,422 (GRCm39) G389R probably null Het
Lipo3 G A 19: 33,759,604 (GRCm39) L211F probably benign Het
Mars2 C T 1: 55,277,741 (GRCm39) T448I probably benign Het
Mcm4 C A 16: 15,453,138 (GRCm39) G184C probably damaging Het
Mmaa C T 8: 79,994,598 (GRCm39) A403T probably damaging Het
Mmel1 A G 4: 154,973,985 (GRCm39) I342V probably benign Het
Myb T C 10: 21,026,405 (GRCm39) T188A possibly damaging Het
Myo1g C T 11: 6,467,569 (GRCm39) probably null Het
Npas2 A G 1: 39,386,708 (GRCm39) Q659R probably benign Het
Npr1 A G 3: 90,362,497 (GRCm39) V941A probably benign Het
Obscn T C 11: 58,967,705 (GRCm39) S2700G probably benign Het
Or2t35 T A 14: 14,407,480 (GRCm38) L84H probably benign Het
Or4k2 A T 14: 50,424,203 (GRCm39) M157K possibly damaging Het
Or5g25 A T 2: 85,478,410 (GRCm39) I85N probably benign Het
Pdpr T A 8: 111,850,492 (GRCm39) H476Q probably damaging Het
Pkd1l1 A T 11: 8,821,805 (GRCm39) S1630T Het
Prdm16 A G 4: 154,613,161 (GRCm39) S89P probably damaging Het
Ptgdr2 T A 19: 10,917,893 (GRCm39) W137R possibly damaging Het
Ptpra A G 2: 130,394,187 (GRCm39) I784V possibly damaging Het
Rabepk G T 2: 34,685,188 (GRCm39) D77E possibly damaging Het
Sh2b1 GGGGACCAGCTCAGCCACGGGGACCAGCTC GGGGACCAGCTCAGCCACAGGGACCAGCTCAGCCACGGGGACCAGCTC 7: 126,066,743 (GRCm39) probably benign Het
Smc3 T A 19: 53,629,616 (GRCm39) S994T possibly damaging Het
Sparc A G 11: 55,292,783 (GRCm39) C147R probably damaging Het
Supt6 A T 11: 78,108,727 (GRCm39) D1191E probably benign Het
Susd4 T C 1: 182,719,832 (GRCm39) probably null Het
Tbc1d5 A G 17: 51,291,631 (GRCm39) probably null Het
Tecta T G 9: 42,278,268 (GRCm39) D1080A probably damaging Het
Tenm4 G T 7: 96,552,064 (GRCm39) W2538L probably damaging Het
Trappc9 A G 15: 72,884,664 (GRCm39) F439L probably benign Het
Tsbp1 A T 17: 34,667,782 (GRCm39) Q158L possibly damaging Het
Vegfa A T 17: 46,342,396 (GRCm39) S141T probably benign Het
Vmn2r9 T A 5: 108,996,873 (GRCm39) D132V 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
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
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'- CAACATTTCTGTGCTGTCTTAGTG -3'
(R):5'- AAGACTTTGCAGAGCTCTGGC -3'

Sequencing Primer
(F):5'- GCTGTCTTAGTGGATTTAGTGCTAG -3'
(R):5'- GGTGCACGCCTTTAATCCCAG -3'
Posted On 2021-03-08