Incidental Mutation 'R2256:Numa1'
ID 243377
Institutional Source Beutler Lab
Gene Symbol Numa1
Ensembl Gene ENSMUSG00000066306
Gene Name nuclear mitotic apparatus protein 1
Synonyms 6720401E04Rik, NuMA
MMRRC Submission 040256-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2256 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 101583318-101664171 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 101649998 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1243 (E1243G)
Ref Sequence ENSEMBL: ENSMUSP00000081912 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084852] [ENSMUST00000163183] [ENSMUST00000209639] [ENSMUST00000210475]
AlphaFold E9Q7G0
Predicted Effect probably damaging
Transcript: ENSMUST00000084852
AA Change: E1243G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000081912
Gene: ENSMUSG00000066306
AA Change: E1243G

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
Meta Mutation Damage Score 0.0884 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.3%
Validation Efficiency 98% (97/99)
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: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T C 5: 9,008,431 (GRCm39) S1200P probably damaging Het
Acadsb A G 7: 131,045,382 (GRCm39) Y438C probably benign Het
Acp7 A C 7: 28,313,838 (GRCm39) W399G probably damaging Het
Actr3b A G 5: 26,027,403 (GRCm39) T113A possibly damaging Het
Adgrv1 T C 13: 81,654,259 (GRCm39) D2204G probably benign Het
Ago1 A G 4: 126,335,704 (GRCm39) V669A possibly damaging Het
Ang5 T A 14: 44,199,978 (GRCm39) L14Q probably null Het
Aoc1 T C 6: 48,883,374 (GRCm39) Y417H possibly damaging Het
Arhgap32 T C 9: 32,158,793 (GRCm39) I186T probably damaging Het
Atf2 A T 2: 73,675,855 (GRCm39) probably null Het
Atg4a A G X: 139,890,984 (GRCm39) I91V probably benign Het
Atp7b T G 8: 22,488,282 (GRCm39) T1102P probably damaging Het
Bend5 A C 4: 111,288,207 (GRCm39) probably benign Het
Camkk2 T C 5: 122,884,398 (GRCm39) D341G probably damaging Het
Cast T A 13: 74,888,024 (GRCm39) I208L probably damaging Het
Ccdc141 A T 2: 76,962,606 (GRCm39) W113R probably damaging Het
Cdk14 T A 5: 4,938,924 (GRCm39) M433L probably benign Het
Cel A G 2: 28,451,204 (GRCm39) F51S probably damaging Het
Cenpc1 A G 5: 86,164,062 (GRCm39) L853S probably damaging Het
Cep162 C A 9: 87,088,967 (GRCm39) D972Y probably damaging Het
Cimip3 AC A 17: 47,744,348 (GRCm39) probably benign Het
Clasrp A G 7: 19,320,510 (GRCm39) probably benign Het
Cntnap5c T A 17: 58,637,310 (GRCm39) N1062K probably benign Het
Col3a1 A G 1: 45,360,792 (GRCm39) D74G unknown Het
Copb1 T A 7: 113,853,110 (GRCm39) D29V possibly damaging Het
Cox6a1 C T 5: 115,486,907 (GRCm39) E35K possibly damaging Het
Cyp2b9 G A 7: 25,873,030 (GRCm39) probably null Het
Ddx46 A G 13: 55,795,521 (GRCm39) K177E possibly damaging Het
Dmbt1 T C 7: 130,692,224 (GRCm39) F823L probably benign Het
Drc7 A T 8: 95,801,637 (GRCm39) H666L probably benign Het
Fam228a T C 12: 4,787,775 (GRCm39) probably benign Het
Fam83e A T 7: 45,378,193 (GRCm39) K406* probably null Het
Fam83e A T 7: 45,378,194 (GRCm39) K406M possibly damaging Het
Fam90a1a T A 8: 22,453,533 (GRCm39) L296Q possibly damaging Het
Fat1 A G 8: 45,403,408 (GRCm39) Y53C probably damaging Het
Fhdc1 T C 3: 84,353,353 (GRCm39) E624G probably benign Het
Fryl T A 5: 73,230,187 (GRCm39) N1657Y possibly damaging Het
Fsip2 T A 2: 82,793,095 (GRCm39) D417E probably benign Het
Garin5b T A 7: 4,774,020 (GRCm39) M31L probably benign Het
Greb1l A G 18: 10,503,307 (GRCm39) M453V possibly damaging Het
Gtf2b A G 3: 142,487,185 (GRCm39) D207G probably benign Het
Has3 C A 8: 107,600,888 (GRCm39) L117I probably damaging Het
Iqca1l C T 5: 24,757,038 (GRCm39) probably benign Het
Jmjd1c T A 10: 67,061,073 (GRCm39) I1142N probably damaging Het
Lipt2 C T 7: 99,808,601 (GRCm39) T38I probably benign Het
Magea2 A T X: 153,810,855 (GRCm39) L243Q probably damaging Het
Mast4 A T 13: 102,872,259 (GRCm39) C2178S possibly damaging Het
Mctp2 A G 7: 71,835,568 (GRCm39) L543P probably damaging Het
Mmut A T 17: 41,267,210 (GRCm39) I595F probably benign Het
Mphosph9 C T 5: 124,421,722 (GRCm39) V740I probably benign Het
Mtrex A T 13: 113,013,046 (GRCm39) M890K probably damaging Het
Myo1e G A 9: 70,285,655 (GRCm39) probably null Het
Nlrc4 A G 17: 74,752,625 (GRCm39) I586T probably damaging Het
Nom1 T A 5: 29,642,750 (GRCm39) V417D probably damaging Het
Nphs1 A T 7: 30,167,417 (GRCm39) I782F possibly damaging Het
Or4a81 T C 2: 89,618,814 (GRCm39) H294R probably benign Het
Or4k42 T C 2: 111,320,323 (GRCm39) Y60C probably damaging Het
Or52e7 A G 7: 104,685,026 (GRCm39) Y207C probably benign Het
Or5g23 T A 2: 85,438,807 (GRCm39) Y149F possibly damaging Het
Or5p54 A T 7: 107,554,244 (GRCm39) Y132F probably damaging Het
Orai2 C T 5: 136,190,454 (GRCm39) V52I probably damaging Het
Osbpl5 A G 7: 143,262,831 (GRCm39) C186R probably damaging Het
Osbpl6 A G 2: 76,414,818 (GRCm39) E403G probably damaging Het
Padi4 G A 4: 140,487,251 (GRCm39) T217I possibly damaging Het
Parm1 C T 5: 91,741,980 (GRCm39) T116I possibly damaging Het
Pde4dip T A 3: 97,625,500 (GRCm39) Q1366L probably damaging Het
Phgdh T C 3: 98,235,607 (GRCm39) K108E probably benign Het
Pold1 T C 7: 44,183,223 (GRCm39) probably null Het
Ppp1r37 G T 7: 19,295,943 (GRCm39) probably benign Het
Sdk2 T C 11: 113,721,620 (GRCm39) N1332S probably benign Het
Sema6d A G 2: 124,506,070 (GRCm39) D626G probably damaging Het
Slc18b1 A G 10: 23,686,820 (GRCm39) N212S probably benign Het
Slc2a9 T C 5: 38,610,542 (GRCm39) T86A probably damaging Het
Slco1a6 A T 6: 142,036,742 (GRCm39) M555K probably benign Het
Sntg2 C T 12: 30,286,687 (GRCm39) W302* probably null Het
Spata22 T A 11: 73,231,301 (GRCm39) M185K possibly damaging Het
Stk35 T A 2: 129,652,427 (GRCm39) Y309* probably null Het
Taar8c A G 10: 23,976,969 (GRCm39) V281A probably benign Het
Thoc1 C A 18: 9,993,466 (GRCm39) D608E possibly damaging Het
Tmem121b A T 6: 120,469,030 (GRCm39) Y562* probably null Het
Tmem121b A G 6: 120,469,032 (GRCm39) Y562H probably damaging Het
Tmtc4 A T 14: 123,178,820 (GRCm39) I449N probably benign Het
Tmub1 C A 5: 24,651,922 (GRCm39) G14V possibly damaging Het
Tmub1 G A 5: 24,652,175 (GRCm39) probably benign Het
Tshz2 A G 2: 169,728,397 (GRCm39) T529A probably damaging Het
Ugdh A T 5: 65,574,458 (GRCm39) probably benign Het
Usp25 A G 16: 76,910,682 (GRCm39) K913E probably benign Het
Vgf A G 5: 137,060,401 (GRCm39) probably benign Het
Vmn2r19 T A 6: 123,306,845 (GRCm39) F451Y probably benign Het
Vmn2r59 A T 7: 41,661,669 (GRCm39) C715* probably null Het
Vps9d1 C A 8: 123,971,860 (GRCm39) A582S probably benign Het
Xbp1 T G 11: 5,474,841 (GRCm39) H247Q probably damaging Het
Zfp1008 A T 13: 62,755,210 (GRCm39) I36N probably benign Het
Zfp319 A T 8: 96,055,129 (GRCm39) M358K possibly damaging Het
Zfp438 A T 18: 5,213,508 (GRCm39) N483K probably damaging Het
Zfp518b T C 5: 38,828,979 (GRCm39) N1009D possibly damaging Het
Zfp644 A T 5: 106,783,711 (GRCm39) H945Q probably damaging Het
Zgrf1 T A 3: 127,355,646 (GRCm39) S291T 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
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'- AGCTAGGGCATAATCAGGCTG -3'
(R):5'- AGTTCTCTGAAACTACACGCTG -3'

Sequencing Primer
(F):5'- GCATAATCAGGCTGCCTCAG -3'
(R):5'- GAAACTACACGCTGTTTCTCCAC -3'
Posted On 2014-10-16