Mutagenetix > Incidental Mutation

Incidental Mutation 'R4211:Numa1'

319195

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 #

R4211 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101583318-101664171 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 101658945 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 356 (L356R)

Ref Sequence

ENSEMBL: ENSMUSP00000126180 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084852] [ENSMUST00000163183]

AlphaFold

E9Q7G0

Predicted Effect

probably damaging
Transcript: ENSMUST00000084852
AA Change: L1709R

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000081912
Gene: ENSMUSG00000066306
AA Change: L1709R

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 damaging
Transcript: ENSMUST00000163183
AA Change: L356R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000126180
Gene: ENSMUSG00000066306
AA Change: L356R

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

noncoding transcript
Transcript: ENSMUST00000210353

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	T	C	10: 10,283,209 (GRCm39)	I166V	probably benign	Het
Albfm1	T	G	5: 90,712,096 (GRCm39)	V63G	probably damaging	Het
Anapc5	T	C	5: 122,955,968 (GRCm39)	E154G	probably benign	Het
Anpep	A	T	7: 79,490,744 (GRCm39)	Y257*	probably null	Het
Atp8b1	A	T	18: 64,686,118 (GRCm39)	D688E	probably damaging	Het
Bub1b	C	A	2: 118,461,459 (GRCm39)	H670Q	possibly damaging	Het
Casp3	G	T	8: 47,088,423 (GRCm39)	D107Y	probably damaging	Het
Castor2	T	C	5: 134,154,783 (GRCm39)		probably null	Het
Clcc1	A	T	3: 108,570,907 (GRCm39)	Y105F	possibly damaging	Het
Cr2	A	C	1: 194,838,636 (GRCm39)	L671R	probably damaging	Het
Cttnbp2	A	G	6: 18,427,542 (GRCm39)	V713A	probably damaging	Het
Cyp4a31	T	C	4: 115,422,210 (GRCm39)	F65L	probably benign	Het
Dpysl2	T	C	14: 67,052,926 (GRCm39)	S308G	probably damaging	Het
Dusp22	A	T	13: 30,892,726 (GRCm39)	I168F	probably benign	Het
Ecel1	A	G	1: 87,079,872 (GRCm39)	S414P	probably damaging	Het
Fat2	A	G	11: 55,174,810 (GRCm39)	F1968L	probably damaging	Het
Fsip2	C	T	2: 82,805,493 (GRCm39)	T604I	probably damaging	Het
H2-DMb1	T	A	17: 34,374,547 (GRCm39)	F66I	possibly damaging	Het
Hgf	T	C	5: 16,819,991 (GRCm39)	V574A	probably damaging	Het
Hoxa7	A	T	6: 52,193,605 (GRCm39)	Y137*	probably null	Het
Ikbke	T	A	1: 131,191,085 (GRCm39)	I519F	probably damaging	Het
Inpp5j	T	G	11: 3,451,107 (GRCm39)	H514P	probably damaging	Het
Kmt2d	A	G	15: 98,738,070 (GRCm39)		probably benign	Het
Larp7	T	A	3: 127,340,603 (GRCm39)	R112S	probably benign	Het
Lepr	C	T	4: 101,590,611 (GRCm39)	A63V	probably benign	Het
Lmx1a	G	T	1: 167,660,428 (GRCm39)	V238L	probably damaging	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Mcmbp	T	C	7: 128,317,729 (GRCm39)	E172G	possibly damaging	Het
Mcpt8	G	A	14: 56,321,375 (GRCm39)	H30Y	probably damaging	Het
Nek8	C	A	11: 78,061,309 (GRCm39)	V379L	probably benign	Het
Pard6b	C	T	2: 167,940,943 (GRCm39)	A310V	probably benign	Het
Pcgf5	C	A	19: 36,414,740 (GRCm39)	N26K	possibly damaging	Het
Phtf1	G	A	3: 103,910,919 (GRCm39)		probably null	Het
Plch1	C	A	3: 63,618,640 (GRCm39)	D675Y	probably damaging	Het
Plk2	A	G	13: 110,532,871 (GRCm39)	H144R	probably damaging	Het
Rax	T	A	18: 66,068,152 (GRCm39)	N318Y	unknown	Het
Slc9a5	A	G	8: 106,085,103 (GRCm39)	N535D	possibly damaging	Het
Smarcd2	T	A	11: 106,157,731 (GRCm39)	K138*	probably null	Het
Taar7e	A	T	10: 23,913,932 (GRCm39)	I141F	probably damaging	Het
Taar7f	T	A	10: 23,925,921 (GRCm39)	W172R	probably damaging	Het
Tango6	A	G	8: 107,415,856 (GRCm39)	I226V	probably benign	Het
Tcn2	T	C	11: 3,872,114 (GRCm39)	K338E	possibly damaging	Het
Tdp1	C	A	12: 99,864,588 (GRCm39)	A243E	probably damaging	Het
Tfpt	A	G	7: 3,623,386 (GRCm39)	Y240H	probably damaging	Het
Tmod4	A	G	3: 95,035,140 (GRCm39)	D215G	probably benign	Het
Top3b	A	G	16: 16,700,396 (GRCm39)		probably null	Het
Urgcp	C	A	11: 5,665,878 (GRCm39)	G820V	probably damaging	Het
Zfand2b	A	T	1: 75,146,454 (GRCm39)	M110L	probably benign	Het
Zfyve1	A	T	12: 83,621,909 (GRCm39)	V162E	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- AGGAAGCTGAACAGACCTGC -3'
(R):5'- CAAGGCTTTCCTAACTGCCC -3'

Sequencing Primer
(F):5'- GACCTGCCGTCACCTTACAG -3'
(R):5'- TCCTAACTGCCCCACCTCAC -3'

Posted On

2015-06-10