Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02114:Numa1'

280315

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 #

IGL02114

Quality Score

Status

Chromosome

Chromosomal Location

101583318-101664171 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 101661083 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147912 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084852] [ENSMUST00000094134] [ENSMUST00000163183] [ENSMUST00000209368] [ENSMUST00000209844] [ENSMUST00000211502]

AlphaFold

E9Q7G0

Predicted Effect

probably benign
Transcript: ENSMUST00000084852

SMART Domains

Protein: ENSMUSP00000081912
Gene: ENSMUSG00000066306

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 benign
Transcript: ENSMUST00000094134

SMART Domains

Protein: ENSMUSP00000091685
Gene: ENSMUSG00000070427

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Blast:IG	66	170	7e-54	BLAST
PDB:4EKX\|A	71	167	6e-6	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000163183

SMART Domains

Protein: ENSMUSP00000126180
Gene: ENSMUSG00000066306

Domain	Start	End	E-Value	Type
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

probably benign
Transcript: ENSMUST00000209368

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209583

Predicted Effect

probably benign
Transcript: ENSMUST00000209844

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210353

Predicted Effect

probably benign
Transcript: ENSMUST00000211502

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700084J12Rik	C	A	15: 33,405,844 (GRCm39)		probably benign	Het
Akap3	T	C	6: 126,842,959 (GRCm39)	V526A	probably damaging	Het
Ano6	C	A	15: 95,841,341 (GRCm39)	S479R	probably damaging	Het
Aqp8	C	A	7: 123,063,419 (GRCm39)	H90N	probably damaging	Het
Arih1	A	T	9: 59,333,452 (GRCm39)	C229S	probably damaging	Het
Col6a6	C	A	9: 105,644,398 (GRCm39)		probably null	Het
Cp	A	G	3: 20,020,511 (GRCm39)	E168G	probably benign	Het
Creb5	C	T	6: 53,581,443 (GRCm39)		probably benign	Het
Cstdc3	T	A	16: 36,131,617 (GRCm39)	Y42*	probably null	Het
Cyp2c66	C	A	19: 39,159,519 (GRCm39)		probably benign	Het
Dcpp2	C	A	17: 24,119,609 (GRCm39)	A141D	possibly damaging	Het
Dnah5	A	G	15: 28,397,270 (GRCm39)	D3321G	probably damaging	Het
Ecsit	T	C	9: 21,989,440 (GRCm39)		probably benign	Het
Gabra1	T	C	11: 42,026,402 (GRCm39)	I297V	probably damaging	Het
Gja8	T	C	3: 96,827,341 (GRCm39)	K107R	probably benign	Het
Gm16686	A	T	4: 88,673,739 (GRCm39)	L30Q	probably null	Het
Hbp1	T	C	12: 31,980,674 (GRCm39)		probably benign	Het
Inhbc	T	C	10: 127,205,971 (GRCm39)	I99V	probably benign	Het
Kcne3	T	A	7: 99,833,697 (GRCm39)		probably benign	Het
Larp1	T	C	11: 57,947,881 (GRCm39)	Y926H	probably damaging	Het
Lhfpl5	G	T	17: 28,795,149 (GRCm39)	A59S	possibly damaging	Het
Mov10	T	A	3: 104,702,634 (GRCm39)		probably benign	Het
Myl12b	A	T	17: 71,284,164 (GRCm39)	N21K	possibly damaging	Het
Ncoa7	A	T	10: 30,538,360 (GRCm39)	V675E	probably damaging	Het
Nt5c1b	T	C	12: 10,425,444 (GRCm39)	I255T	probably damaging	Het
Or13c3	T	A	4: 52,856,144 (GRCm39)	Y123F	probably damaging	Het
Otop2	A	T	11: 115,217,806 (GRCm39)	D214V	possibly damaging	Het
Plec	C	A	15: 76,057,748 (GRCm39)	G3928V	probably damaging	Het
Prkcz	T	C	4: 155,356,047 (GRCm39)	E176G	probably damaging	Het
Qdpr	G	A	5: 45,592,018 (GRCm39)	T106I	possibly damaging	Het
R3hdm2	T	G	10: 127,319,978 (GRCm39)	M481R	probably damaging	Het
Setdb2	C	T	14: 59,639,764 (GRCm39)	R709Q	probably damaging	Het
Skic2	C	T	17: 35,060,092 (GRCm39)	V145M	probably damaging	Het
Slx4ip	T	A	2: 136,842,120 (GRCm39)	V15D	probably damaging	Het
Stat4	T	C	1: 52,142,024 (GRCm39)	S624P	probably damaging	Het
Tecpr2	T	A	12: 110,935,321 (GRCm39)	L1380Q	probably damaging	Het
Traf2	T	C	2: 25,415,004 (GRCm39)	I286V	possibly damaging	Het
Vmn2r30	T	C	7: 7,340,408 (GRCm39)	I29V	possibly damaging	Het
Wdr43	A	G	17: 71,959,843 (GRCm39)	Q561R	probably benign	Het
Zfp607b	T	A	7: 27,403,150 (GRCm39)	F535L	probably benign	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
IGL01954:Numa1	APN	7	101,645,300 (GRCm39)	nonsense	probably null
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

2015-04-16