Mutagenetix > Incidental Mutation

Incidental Mutation 'R5210:Numa1'

403093

Institutional Source

Beutler Lab

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 #

R5210 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101583318-101664171 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 101649188 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 973 (A973E)

Ref Sequence

ENSEMBL: ENSMUSP00000148098 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084852] [ENSMUST00000163183] [ENSMUST00000209639] [ENSMUST00000210475] [ENSMUST00000210679] [ENSMUST00000211272]

AlphaFold

E9Q7G0

Predicted Effect

probably benign
Transcript: ENSMUST00000084852
AA Change: A973E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000081912
Gene: ENSMUSG00000066306
AA Change: A973E

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: 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

noncoding transcript
Transcript: ENSMUST00000209583

Predicted Effect

probably benign
Transcript: ENSMUST00000209639

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210353

Predicted Effect

probably benign
Transcript: ENSMUST00000210475
AA Change: A973E

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000210679

Predicted Effect

probably benign
Transcript: ENSMUST00000211272

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

98% (40/41)

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	T	A	5: 35,994,416 (GRCm39)	V342E	probably benign	Het
Adgre4	T	A	17: 56,092,029 (GRCm39)	N96K	probably damaging	Het
Aopep	A	G	13: 63,215,924 (GRCm39)	I399V	probably benign	Het
Bltp1	T	C	3: 37,087,414 (GRCm39)	V710A	possibly damaging	Het
Ccdc171	A	G	4: 83,473,093 (GRCm39)	E174G	probably damaging	Het
Col11a1	T	C	3: 113,946,806 (GRCm39)	F1026S	probably damaging	Het
Coro1c	A	G	5: 113,983,367 (GRCm39)	L387P	probably damaging	Het
Dsg1c	C	T	18: 20,407,758 (GRCm39)	T368I	probably damaging	Het
Exoc3l4	C	A	12: 111,395,275 (GRCm39)		probably benign	Het
Extl1	T	C	4: 134,087,895 (GRCm39)	D453G	probably benign	Het
Gm21136	T	C	7: 38,567,165 (GRCm39)		noncoding transcript	Het
H3c4	G	T	13: 23,760,015 (GRCm39)	G14C	possibly damaging	Het
Ifi208	T	C	1: 173,510,831 (GRCm39)	S329P	probably benign	Het
Iscu	T	A	5: 113,915,034 (GRCm39)	L182*	probably null	Het
Klra6	T	A	6: 129,995,855 (GRCm39)	K168*	probably null	Het
Map3k5	T	C	10: 19,900,647 (GRCm39)	S274P	possibly damaging	Het
Megf6	G	T	4: 154,354,273 (GRCm39)		probably benign	Het
Mmp12	T	A	9: 7,349,729 (GRCm39)	Y53*	probably null	Het
Nucb2	T	A	7: 116,128,222 (GRCm39)	Y278N	probably damaging	Het
Or1o4	C	A	17: 37,590,824 (GRCm39)	K162N	probably benign	Het
Or2w1b	A	T	13: 21,300,222 (GRCm39)	Y120F	probably damaging	Het
Or5b123	A	G	19: 13,596,763 (GRCm39)	K79R	probably damaging	Het
Or7g18	T	A	9: 18,787,103 (GRCm39)	L157Q	probably damaging	Het
Pcdhga3	C	A	18: 37,808,963 (GRCm39)	T472K	probably benign	Het
Pclo	A	G	5: 14,763,464 (GRCm39)	D694G	probably damaging	Het
Plch1	A	G	3: 63,607,199 (GRCm39)		probably null	Het
Pou3f2	C	T	4: 22,487,324 (GRCm39)	D270N	probably damaging	Het
Prrc2a	G	A	17: 35,372,596 (GRCm39)	R1682W	probably damaging	Het
Rb1	A	G	14: 73,436,751 (GRCm39)	F838S	probably damaging	Het
Sec24c	A	G	14: 20,741,872 (GRCm39)	E769G	probably damaging	Het
Slc45a2	C	T	15: 11,027,871 (GRCm39)	T480I	probably damaging	Het
Tmem63c	A	T	12: 87,136,172 (GRCm39)	E796V	probably benign	Het
Tomm70a	G	A	16: 56,953,614 (GRCm39)		probably null	Het
Tpcn1	G	A	5: 120,677,279 (GRCm39)	T676I	probably damaging	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	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
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
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'- CTGTCTGAAGACCTTGGTGC -3'
(R):5'- TTCCTGTAGGGCAGCAAACTC -3'

Sequencing Primer
(F):5'- CTCAAGGCAGGTGAGCAGC -3'
(R):5'- TCCACACGCTGCTCATTGAGG -3'

Posted On

2016-07-22