Incidental Mutation 'R7374:Numa1'
ID 572274
Institutional Source Beutler Lab
Gene Symbol Numa1
Ensembl Gene ENSMUSG00000066306
Gene Name nuclear mitotic apparatus protein 1
Synonyms 6720401E04Rik, NuMA
MMRRC Submission 045457-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7374 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 101583318-101664171 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 101658335 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1568 (V1568A)
Ref Sequence ENSEMBL: ENSMUSP00000081912 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084852] [ENSMUST00000163183]
AlphaFold E9Q7G0
Predicted Effect probably benign
Transcript: ENSMUST00000084852
AA Change: V1568A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000081912
Gene: ENSMUSG00000066306
AA Change: V1568A

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
AA Change: V215A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000126180
Gene: ENSMUSG00000066306
AA Change: V215A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 C T 11: 9,242,136 (GRCm39) T1333I possibly damaging Het
Abcd4 A T 12: 84,653,017 (GRCm39) L395* probably null Het
Cdh23 G A 10: 60,153,679 (GRCm39) R2304W probably damaging Het
Ckap2l T C 2: 129,126,883 (GRCm39) T432A probably damaging Het
Cplane1 T A 15: 8,276,731 (GRCm39) W2792R unknown Het
Cyp2c68 T C 19: 39,727,648 (GRCm39) probably null Het
Ddx51 C A 5: 110,804,998 (GRCm39) T580K probably damaging Het
Fbxo44 T A 4: 148,241,094 (GRCm39) D112V probably benign Het
Ffar2 T C 7: 30,519,465 (GRCm39) N25S probably damaging Het
Gas6 A T 8: 13,524,802 (GRCm39) V330D probably damaging Het
Gfpt1 A G 6: 87,027,959 (GRCm39) T22A probably benign Het
Gm3371 A G 14: 44,641,240 (GRCm39) V108A Het
Gm8257 T C 14: 44,887,740 (GRCm39) E215G probably benign Het
Gria1 T A 11: 57,080,634 (GRCm39) S206T probably benign Het
Gria2 T C 3: 80,648,383 (GRCm39) T118A probably benign Het
Hfe T G 13: 23,890,030 (GRCm39) T248P probably damaging Het
Kdm5d T C Y: 941,491 (GRCm39) W1231R probably benign Het
Ltbp2 C T 12: 84,876,949 (GRCm39) D419N probably damaging Het
Mei1 G A 15: 81,980,109 (GRCm39) A232T Het
Mgam G A 6: 40,734,373 (GRCm39) E1473K possibly damaging Het
Mtbp A C 15: 55,426,355 (GRCm39) E99A possibly damaging Het
Muc5b A T 7: 141,416,863 (GRCm39) T3270S probably benign Het
Myl2 A G 5: 122,239,726 (GRCm39) Y28C Het
Nrxn1 A G 17: 90,896,097 (GRCm39) probably null Het
Ntn4 A G 10: 93,518,434 (GRCm39) H247R probably benign Het
Nyap1 C T 5: 137,733,791 (GRCm39) G414D probably damaging Het
Or5p68 A G 7: 107,946,095 (GRCm39) F31S probably damaging Het
Or8k25 C A 2: 86,244,196 (GRCm39) A67S probably benign Het
Pdgfrb G A 18: 61,204,780 (GRCm39) V547I possibly damaging Het
Pom121l12 A T 11: 14,549,962 (GRCm39) M223L probably benign Het
Prps1l1 T C 12: 35,035,424 (GRCm39) S180P possibly damaging Het
Ptprf A G 4: 118,114,689 (GRCm39) S189P probably damaging Het
Radil G A 5: 142,471,235 (GRCm39) R1014W probably damaging Het
Rfx5 C T 3: 94,866,053 (GRCm39) P451S unknown Het
Rhbdl2 G C 4: 123,711,658 (GRCm39) V132L probably benign Het
Slc15a2 G T 16: 36,572,207 (GRCm39) T719K probably benign Het
Slc9a9 A G 9: 94,937,542 (GRCm39) T465A possibly damaging Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,222 (GRCm39) probably benign Het
Sv2a A T 3: 96,095,525 (GRCm39) Y306F probably benign Het
Sv2c A T 13: 96,125,644 (GRCm39) H364Q probably damaging Het
Tmem181a T A 17: 6,354,533 (GRCm39) L401Q possibly damaging Het
Trav9d-4 A G 14: 53,221,300 (GRCm39) Y98C probably damaging Het
Trim33 T A 3: 103,217,639 (GRCm39) C195S probably damaging Het
Uroc1 T C 6: 90,315,815 (GRCm39) Y191H probably damaging Het
Usp9y T C Y: 1,381,305 (GRCm39) I839V probably benign Het
Vmn1r52 A T 6: 90,156,118 (GRCm39) I141F probably benign Het
Vmn1r59 T C 7: 5,457,160 (GRCm39) H200R probably damaging Het
Vmn2r68 A T 7: 84,881,607 (GRCm39) M491K possibly damaging Het
Vmn2r74 T C 7: 85,606,630 (GRCm39) I239V probably benign Het
Wrn A C 8: 33,758,939 (GRCm39) C1006W 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
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
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'- TTGGGCCAAGGTGTCCTAAG -3'
(R):5'- GTCTTGAAGCTGTTCCTGCAG -3'

Sequencing Primer
(F):5'- CAAGGTGTCCTAAGAGTCCTG -3'
(R):5'- GCTGCTTCTTGGCATCATAATG -3'
Posted On 2019-09-13