Mutagenetix > Incidental Mutations

Incidental Mutation 'R7374:Numa1'

572274

Institutional Source

Beutler Lab

Gene Symbol

Numa1

Ensembl Gene

ENSMUSG00000066306

Gene Name

nuclear mitotic apparatus protein 1

Synonyms

6720401E04Rik

MMRRC Submission

Accession Numbers

Genbank: NM_133947.3; Ensembl: ENSMUST00000084852

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7374 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

101934111-102014964 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102009128 bp

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]

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

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
AA Change: V215A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000126180
Gene: ENSMUSG00000066306
AA Change: V215A

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

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	A	15: 8,247,247	W2792R	unknown	Het
Abca13	C	T	11: 9,292,136	T1333I	possibly damaging	Het
Abcd4	A	T	12: 84,606,243	L395*	probably null	Het
Cdh23	G	A	10: 60,317,900	R2304W	probably damaging	Het
Ckap2l	T	C	2: 129,284,963	T432A	probably damaging	Het
Cyp2c68	T	C	19: 39,739,204		probably null	Het
Ddx51	C	A	5: 110,657,132	T580K	probably damaging	Het
Fbxo44	T	A	4: 148,156,637	D112V	probably benign	Het
Ffar2	T	C	7: 30,820,040	N25S	probably damaging	Het
Gas6	A	T	8: 13,474,802	V330D	probably damaging	Het
Gfpt1	A	G	6: 87,050,977	T22A	probably benign	Het
Gm3371	A	G	14: 44,403,783	V108A		Het
Gm8257	T	C	14: 44,650,283	E215G	probably benign	Het
Gria1	T	A	11: 57,189,808	S206T	probably benign	Het
Gria2	T	C	3: 80,741,076	T118A	probably benign	Het
Hfe	T	G	13: 23,706,047	T248P	probably damaging	Het
Kdm5d	T	C	Y: 941,491	W1231R	probably benign	Het
Ltbp2	C	T	12: 84,830,175	D419N	probably damaging	Het
Mei1	G	A	15: 82,095,908	A232T		Het
Mgam	G	A	6: 40,757,439	E1473K	possibly damaging	Het
Mtbp	A	C	15: 55,562,959	E99A	possibly damaging	Het
Muc5b	A	T	7: 141,863,126	T3270S	probably benign	Het
Myl2	A	G	5: 122,101,663	Y28C		Het
Nrxn1	A	G	17: 90,588,669		probably null	Het
Ntn4	A	G	10: 93,682,572	H247R	probably benign	Het
Nyap1	C	T	5: 137,735,529	G414D	probably damaging	Het
Olfr1061	C	A	2: 86,413,852	A67S	probably benign	Het
Olfr493	A	G	7: 108,346,888	F31S	probably damaging	Het
Pdgfrb	G	A	18: 61,071,708	V547I	possibly damaging	Het
Pom121l12	A	T	11: 14,599,962	M223L	probably benign	Het
Prps1l1	T	C	12: 34,985,425	S180P	possibly damaging	Het
Ptprf	A	G	4: 118,257,492	S189P	probably damaging	Het
Radil	G	A	5: 142,485,480	R1014W	probably damaging	Het
Rfx5	C	T	3: 94,958,742	P451S	unknown	Het
Rhbdl2	G	C	4: 123,817,865	V132L	probably benign	Het
Slc15a2	G	T	16: 36,751,845	T719K	probably benign	Het
Slc9a9	A	G	9: 95,055,489	T465A	possibly damaging	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,660,334		probably benign	Het
Sv2a	A	T	3: 96,188,209	Y306F	probably benign	Het
Sv2c	A	T	13: 95,989,136	H364Q	probably damaging	Het
Tmem181a	T	A	17: 6,304,258	L401Q	possibly damaging	Het
Trav9d-4	A	G	14: 52,983,843	Y98C	probably damaging	Het
Trim33	T	A	3: 103,310,323	C195S	probably damaging	Het
Uroc1	T	C	6: 90,338,833	Y191H	probably damaging	Het
Usp9y	T	C	Y: 1,381,305	I839V	probably benign	Het
Vmn1r52	A	T	6: 90,179,136	I141F	probably benign	Het
Vmn1r59	T	C	7: 5,454,161	H200R	probably damaging	Het
Vmn2r68	A	T	7: 85,232,399	M491K	possibly damaging	Het
Vmn2r74	T	C	7: 85,957,422	I239V	probably benign	Het
Wrn	A	C	8: 33,268,911	C1006W	probably damaging	Het

Other mutations in Numa1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00509:Numa1	APN	7	102013286	missense	possibly damaging	0.95
IGL00819:Numa1	APN	7	101992710	missense	possibly damaging	0.90
IGL01103:Numa1	APN	7	102001571	missense	probably benign	0.01
IGL01153:Numa1	APN	7	101994744	missense	probably damaging	1.00
IGL01954:Numa1	APN	7	101996093	nonsense	probably null
IGL02114:Numa1	APN	7	102011876	unclassified	probably benign
IGL02245:Numa1	APN	7	102000394	missense	probably benign	0.02
IGL02259:Numa1	APN	7	101987748	missense	possibly damaging	0.93
IGL02313:Numa1	APN	7	102000232	nonsense	probably null
IGL02316:Numa1	APN	7	102001370	missense	probably damaging	1.00
IGL02386:Numa1	APN	7	102007532	missense	probably benign	0.00
IGL02517:Numa1	APN	7	102012009	missense	probably benign	0.01
IGL02529:Numa1	APN	7	101999953	splice site	probably null
IGL02664:Numa1	APN	7	101998902	missense	possibly damaging	0.83
IGL02721:Numa1	APN	7	101999911	missense	probably benign	0.01
IGL02816:Numa1	APN	7	101996100	missense	probably damaging	1.00
IGL03126:Numa1	APN	7	102000667	nonsense	probably null
meltdown	UTSW	7	101990571	critical splice acceptor site	probably null
1mM(1):Numa1	UTSW	7	101994715	missense	probably benign	0.06
PIT4651001:Numa1	UTSW	7	102013934	missense	probably damaging	0.97
R0047:Numa1	UTSW	7	102009453	missense	probably damaging	1.00
R0047:Numa1	UTSW	7	102009453	missense	probably damaging	1.00
R0548:Numa1	UTSW	7	101995524	missense	possibly damaging	0.86
R0554:Numa1	UTSW	7	101995524	missense	possibly damaging	0.86
R0592:Numa1	UTSW	7	102013897	missense	probably benign
R0669:Numa1	UTSW	7	101999677	missense	probably benign
R0856:Numa1	UTSW	7	101998948	missense	probably damaging	1.00
R1072:Numa1	UTSW	7	102001150	splice site	probably null
R1776:Numa1	UTSW	7	102011050	missense	probably damaging	1.00
R1898:Numa1	UTSW	7	101992720	critical splice donor site	probably null
R1969:Numa1	UTSW	7	102009322	missense	probably damaging	0.98
R1970:Numa1	UTSW	7	102009322	missense	probably damaging	0.98
R1971:Numa1	UTSW	7	102009322	missense	probably damaging	0.98
R2180:Numa1	UTSW	7	101999990	missense	probably benign	0.00
R2256:Numa1	UTSW	7	102000791	missense	probably damaging	0.99
R2257:Numa1	UTSW	7	102000791	missense	probably damaging	0.99
R2508:Numa1	UTSW	7	101995524	missense	possibly damaging	0.86
R2958:Numa1	UTSW	7	102009495	missense	possibly damaging	0.92
R4210:Numa1	UTSW	7	102009738	missense	probably damaging	1.00
R4211:Numa1	UTSW	7	102009738	missense	probably damaging	1.00
R4643:Numa1	UTSW	7	102000665	splice site	probably null
R4783:Numa1	UTSW	7	102013566	missense	probably damaging	1.00
R4823:Numa1	UTSW	7	101996037	missense	probably damaging	1.00
R4908:Numa1	UTSW	7	102012805	missense	probably damaging	1.00
R4934:Numa1	UTSW	7	102010857	missense	probably benign	0.32
R4981:Numa1	UTSW	7	101992674	missense	probably damaging	1.00
R5120:Numa1	UTSW	7	101977437	missense	probably damaging	0.99
R5122:Numa1	UTSW	7	102013769	missense	probably damaging	1.00
R5210:Numa1	UTSW	7	101999981	missense	probably benign	0.03
R5230:Numa1	UTSW	7	101995524	missense	possibly damaging	0.86
R5547:Numa1	UTSW	7	102013930	missense	probably damaging	1.00
R5861:Numa1	UTSW	7	102009287	splice site	probably null
R6006:Numa1	UTSW	7	101992719	critical splice donor site	probably null
R6031:Numa1	UTSW	7	102012012	missense	possibly damaging	0.86
R6031:Numa1	UTSW	7	102012012	missense	possibly damaging	0.86
R6295:Numa1	UTSW	7	102000767	missense	probably benign	0.03
R6322:Numa1	UTSW	7	102000920	missense	probably damaging	1.00
R6413:Numa1	UTSW	7	101990571	critical splice acceptor site	probably null
R6786:Numa1	UTSW	7	101992638	missense	probably benign	0.05
R7218:Numa1	UTSW	7	102000910	missense	probably benign	0.02
R7312:Numa1	UTSW	7	101990599	missense	possibly damaging	0.92
R7626:Numa1	UTSW	7	101999423	missense	probably benign	0.42
R7769:Numa1	UTSW	7	101999000	missense	possibly damaging	0.77
R7830:Numa1	UTSW	7	101999285	missense	probably benign	0.03
R7886:Numa1	UTSW	7	102013865	missense	probably benign	0.27
R7935:Numa1	UTSW	7	102002331	missense	probably damaging	0.96
R8134:Numa1	UTSW	7	102001627	missense	probably benign	0.14
R8143:Numa1	UTSW	7	101999684	missense	possibly damaging	0.82
R8217:Numa1	UTSW	7	101992669	missense	possibly damaging	0.66
R8263:Numa1	UTSW	7	101999284	missense	probably benign	0.03
R8536:Numa1	UTSW	7	102001580	missense	probably damaging	0.96
RF013:Numa1	UTSW	7	101999780	missense	probably damaging	0.99
Z1088:Numa1	UTSW	7	101998331	missense	probably damaging	0.99
Z1088:Numa1	UTSW	7	101998402	missense	probably benign	0.27

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