Incidental Mutation 'R7769:Numa1'
ID 598469
Institutional Source Beutler Lab
Gene Symbol Numa1
Ensembl Gene ENSMUSG00000066306
Gene Name nuclear mitotic apparatus protein 1
Synonyms 6720401E04Rik, NuMA
MMRRC Submission 045825-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7769 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 101583318-101664171 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 101648207 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 646 (I646K)
Ref Sequence ENSEMBL: ENSMUSP00000081912 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084852] [ENSMUST00000163183] [ENSMUST00000209639] [ENSMUST00000210475] [ENSMUST00000210679] [ENSMUST00000211272]
AlphaFold E9Q7G0
Predicted Effect possibly damaging
Transcript: ENSMUST00000084852
AA Change: I646K

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000081912
Gene: ENSMUSG00000066306
AA Change: I646K

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 possibly damaging
Transcript: ENSMUST00000209639
AA Change: I646K

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000210475
AA Change: I646K

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000210679
Predicted Effect probably benign
Transcript: ENSMUST00000211272
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 96% (71/74)
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
Abcc4 ACCAGCCC ACC 14: 118,852,682 (GRCm39) probably null Het
Abhd14b T C 9: 106,328,819 (GRCm39) Y147H probably damaging Het
Adam26b C A 8: 43,974,732 (GRCm39) R90L probably benign Het
Agt A T 8: 125,291,289 (GRCm39) M6K probably benign Het
Akr1c14 T C 13: 4,109,644 (GRCm39) S5P probably benign Het
Arhgef38 A C 3: 132,855,383 (GRCm39) S235A unknown Het
Cabp5 A G 7: 13,134,658 (GRCm39) D31G probably benign Het
Cacna1h T A 17: 25,604,779 (GRCm39) D1178V probably damaging Het
Ccdc88a A T 11: 29,432,381 (GRCm39) E1199D probably damaging Het
Cd244a A T 1: 171,404,873 (GRCm39) I242F probably benign Het
Clpb G T 7: 101,371,924 (GRCm39) R220L probably damaging Het
Cltc C T 11: 86,610,319 (GRCm39) R638H probably damaging Het
Cnr1 A T 4: 33,944,892 (GRCm39) M427L probably benign Het
Ctnnbl1 C T 2: 157,579,390 (GRCm39) probably benign Het
Epb41l2 A T 10: 25,369,471 (GRCm39) T597S probably benign Het
Epb41l3 T C 17: 69,545,421 (GRCm39) Y163H probably damaging Het
Fgg A G 3: 82,920,433 (GRCm39) probably null Het
Gm37240 A T 3: 84,417,232 (GRCm39) D162E possibly damaging Het
Gm44511 T A 6: 128,797,240 (GRCm39) T83S probably benign Het
Gm6685 T A 11: 28,289,252 (GRCm39) Y188F probably benign Het
Gprin2 A T 14: 33,917,570 (GRCm39) C67S probably benign Het
Grk6 A G 13: 55,598,820 (GRCm39) D140G probably benign Het
Hps3 T C 3: 20,072,972 (GRCm39) probably null Het
Hspb7 T C 4: 141,151,335 (GRCm39) V159A possibly damaging Het
Ibsp A G 5: 104,453,871 (GRCm39) N70D probably benign Het
Ibsp A G 5: 104,458,050 (GRCm39) N196D probably damaging Het
Igfn1 A T 1: 135,910,143 (GRCm39) F147Y possibly damaging Het
Iqca1 T G 1: 90,005,532 (GRCm39) D492A possibly damaging Het
Klhl42 T C 6: 146,993,358 (GRCm39) L110P possibly damaging Het
Krt12 C T 11: 99,308,852 (GRCm39) R395Q probably damaging Het
Lig4 A T 8: 10,023,629 (GRCm39) H50Q possibly damaging Het
Mttp A C 3: 137,808,873 (GRCm39) L730R probably damaging Het
Muc16 T A 9: 18,571,803 (GRCm39) I239L unknown Het
Myo15a T C 11: 60,399,975 (GRCm39) F1723L Het
Niban2 A G 2: 32,809,844 (GRCm39) T314A possibly damaging Het
Nin T C 12: 70,090,004 (GRCm39) D1137G Het
Nsf C T 11: 103,819,665 (GRCm39) V35M probably damaging Het
Nwd2 A G 5: 63,961,847 (GRCm39) N477S probably damaging Het
Or1p1 T A 11: 74,179,589 (GRCm39) V39E probably damaging Het
P4ha3 A G 7: 99,934,924 (GRCm39) D62G probably damaging Het
Palb2 G T 7: 121,727,638 (GRCm39) D77E probably benign Het
Pcmtd2 T C 2: 181,493,494 (GRCm39) V233A probably benign Het
Perm1 TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT 4: 156,302,525 (GRCm39) probably benign Het
Pgr C T 9: 8,946,856 (GRCm39) T699I possibly damaging Het
Pknox2 C A 9: 36,806,602 (GRCm39) probably null Het
Ppp2r3d T C 9: 124,439,087 (GRCm38) H110R Het
Psmd11 T A 11: 80,325,408 (GRCm39) probably benign Het
Pyroxd2 T C 19: 42,736,001 (GRCm39) N59S probably benign Het
Qser1 A T 2: 104,588,921 (GRCm39) D1662E possibly damaging Het
Rasip1 A G 7: 45,278,239 (GRCm39) Y180C probably damaging Het
Rbl1 T C 2: 157,033,900 (GRCm39) S393G probably benign Het
Rtn4r C T 16: 17,969,153 (GRCm39) P194S probably benign Het
Ryr1 C T 7: 28,798,210 (GRCm39) G944D probably damaging Het
Scamp3 A G 3: 89,085,298 (GRCm39) D23G probably damaging Het
Secisbp2l CTGGG C 2: 125,613,465 (GRCm39) probably benign Het
Shcbp1 A G 8: 4,789,232 (GRCm39) I529T probably damaging Het
Slc5a10 T A 11: 61,564,473 (GRCm39) D502V probably damaging Het
Smad5 T C 13: 56,880,855 (GRCm39) I323T possibly damaging Het
Spred1 T C 2: 117,007,930 (GRCm39) S279P probably benign Het
Stag1 T A 9: 100,826,880 (GRCm39) V949D possibly damaging Het
Stxbp3 A G 3: 108,708,144 (GRCm39) S386P probably benign Het
Syt14 A G 1: 192,666,632 (GRCm39) S91P unknown Het
Thpo C T 16: 20,544,401 (GRCm39) A211T probably benign Het
Tns1 T A 1: 73,992,530 (GRCm39) D716V probably damaging Het
Trbv26 A G 6: 41,204,481 (GRCm39) Y8C probably benign Het
Tshr A G 12: 91,505,044 (GRCm39) I661V probably damaging Het
Uvrag G A 7: 98,628,928 (GRCm39) P380S probably damaging Het
Vkorc1 G T 7: 127,493,696 (GRCm39) Y88* probably null Het
Vmn1r63 C T 7: 5,806,369 (GRCm39) V88M probably damaging Het
Wdsub1 A G 2: 59,708,763 (GRCm39) Y37H probably damaging Het
Zap70 A G 1: 36,809,983 (GRCm39) D31G probably benign Het
Zc3h12d G A 10: 7,743,390 (GRCm39) A387T probably benign Het
Zfp438 C T 18: 5,213,377 (GRCm39) R527H 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
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
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'- AACTGGCCATCGTTGCTGAG -3'
(R):5'- CAAGGCTGCCTTTGGTAATC -3'

Sequencing Primer
(F):5'- CATCGTTGCTGAGGCTCGAG -3'
(R):5'- GGTAATCTTCAAAGACTCCTCAAGGG -3'
Posted On 2019-11-26