Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01954:Numa1'

181363

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Numa1

Ensembl Gene

ENSMUSG00000066306

Gene Name

nuclear mitotic apparatus protein 1

Synonyms

6720401E04Rik, NuMA

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01954

Quality Score

Status

Chromosome

Chromosomal Location

101583318-101664171 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 101645300 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 309 (R309*)

Ref Sequence

ENSEMBL: ENSMUSP00000148098 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084852] [ENSMUST00000209639] [ENSMUST00000210475] [ENSMUST00000210679] [ENSMUST00000211272]

AlphaFold

E9Q7G0

Predicted Effect

probably null
Transcript: ENSMUST00000084852
AA Change: R309*

SMART Domains

Protein: ENSMUSP00000081912
Gene: ENSMUSG00000066306
AA Change: R309*

Domain	Start	End	E-Value	Type
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: R309*

Predicted Effect

probably null
Transcript: ENSMUST00000210475
AA Change: R309*

Predicted Effect

probably benign
Transcript: ENSMUST00000210679

Predicted Effect

probably benign
Transcript: ENSMUST00000211272

Coding Region Coverage

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	A	T	4: 144,396,741 (GRCm39)	D330E	probably damaging	Het
Acsm3	T	C	7: 119,374,306 (GRCm39)		probably benign	Het
Ankrd26	T	A	6: 118,535,966 (GRCm39)	Y156F	possibly damaging	Het
Bcr	G	A	10: 75,011,173 (GRCm39)		probably null	Het
Cpn2	C	T	16: 30,079,138 (GRCm39)	A188T	probably benign	Het
Ctdsp1	T	C	1: 74,433,242 (GRCm39)		probably benign	Het
Cts7	T	A	13: 61,500,637 (GRCm39)	R303S	probably benign	Het
Dock7	T	C	4: 98,971,388 (GRCm39)	D59G	probably damaging	Het
Garre1	A	T	7: 33,944,460 (GRCm39)	W91R	probably damaging	Het
Gpr149	T	C	3: 62,438,348 (GRCm39)	N603S	probably benign	Het
Gucy2g	A	G	19: 55,187,123 (GRCm39)	I1099T	probably benign	Het
Gzf1	G	A	2: 148,525,981 (GRCm39)	A151T	probably benign	Het
Ighv1-80	A	T	12: 115,876,253 (GRCm39)	V21D	probably benign	Het
Klhl18	T	C	9: 110,257,934 (GRCm39)	Y432C	probably damaging	Het
Lama4	A	G	10: 38,963,295 (GRCm39)	D1289G	probably benign	Het
Mab21l4	T	A	1: 93,079,794 (GRCm39)	D432V	probably damaging	Het
Mcm7	T	C	5: 138,165,507 (GRCm39)	T466A	probably damaging	Het
Megf8	A	G	7: 25,048,439 (GRCm39)	E1704G	possibly damaging	Het
Mettl25	C	T	10: 105,659,068 (GRCm39)	C405Y	probably damaging	Het
Muc6	A	C	7: 141,218,497 (GRCm39)	S2059A	probably benign	Het
Ndc1	T	A	4: 107,253,001 (GRCm39)	I590N	probably damaging	Het
Npnt	G	T	3: 132,615,724 (GRCm39)	N137K	probably damaging	Het
Ogfod3	G	A	11: 121,093,851 (GRCm39)	T53I	probably benign	Het
Or11i1	A	G	3: 106,729,311 (GRCm39)	I188T	possibly damaging	Het
Or5v1	C	A	17: 37,809,540 (GRCm39)		probably benign	Het
Pcdhb9	G	T	18: 37,534,794 (GRCm39)	V263F	probably damaging	Het
Pld4	T	C	12: 112,734,355 (GRCm39)		probably null	Het
Ppp2r3c	A	G	12: 55,339,353 (GRCm39)	L170P	probably damaging	Het
Prex2	T	A	1: 11,210,235 (GRCm39)	D558E	possibly damaging	Het
Rasal2	A	G	1: 157,005,269 (GRCm39)	S227P	possibly damaging	Het
Rasal2	A	T	1: 157,003,686 (GRCm39)	D324E	probably damaging	Het
Rcbtb1	A	G	14: 59,467,416 (GRCm39)	Y418C	probably damaging	Het
Rhag	T	C	17: 41,139,341 (GRCm39)	F92S	possibly damaging	Het
Scel	T	C	14: 103,840,678 (GRCm39)		probably benign	Het
Serinc5	A	G	13: 92,819,441 (GRCm39)	N125S	probably damaging	Het
Sgpl1	A	T	10: 60,936,672 (GRCm39)	M561K	probably benign	Het
Sostdc1	T	C	12: 36,367,121 (GRCm39)	V99A	probably damaging	Het
Them6	A	G	15: 74,593,538 (GRCm39)	Y132C	probably damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Vmn2r27	A	T	6: 124,169,207 (GRCm39)	F641Y	probably damaging	Het
Vps13c	A	G	9: 67,876,580 (GRCm39)	Y3384C	probably damaging	Het
Zbtb32	G	T	7: 30,289,353 (GRCm39)		probably null	Het

Other mutations in Numa1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

Posted On

2014-05-07