Mutagenetix > Incidental Mutations

Incidental Mutation 'R4981:Numa1'

384829

Institutional Source

Beutler Lab

Gene Symbol

Numa1

Ensembl Gene

ENSMUSG00000066306

Gene Name

nuclear mitotic apparatus protein 1

Synonyms

6720401E04Rik

MMRRC Submission

042576-MU

Accession Numbers

Genbank: NM_133947.3; Ensembl: ENSMUST00000084852

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4981 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101934111-102014964 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101992674 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 110 (S110P)

Ref Sequence

ENSEMBL: ENSMUSP00000148215 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000084852
AA Change: S110P

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000081912
Gene: ENSMUSG00000066306
AA Change: S110P

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: ENSMUST00000209639
AA Change: S110P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000210475
AA Change: S110P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000210679

Predicted Effect

probably damaging
Transcript: ENSMUST00000211272
AA Change: S110P

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

Meta Mutation Damage Score

0.0706

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.3%

Validation Efficiency

100% (105/105)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	A	T	12: 55,048,987		probably null	Het
Aatf	T	C	11: 84,511,497	D121G	probably benign	Het
Amer2	T	A	14: 60,379,727	L331H	probably damaging	Het
Ang4	T	G	14: 51,764,372	K40Q	probably benign	Het
Aspm	A	C	1: 139,470,760		probably null	Het
Cacna1c	A	T	6: 118,751,471	D337E	probably benign	Het
Ccdc124	T	C	8: 70,868,785	E134G	probably benign	Het
Ccdc7a	G	T	8: 128,984,983	A312E	probably benign	Het
Ccdc84	A	T	9: 44,417,948	F14Y	probably damaging	Het
Cd209g	A	G	8: 4,136,845	D130G	probably damaging	Het
Cd320	T	C	17: 33,847,575	S96P	probably benign	Het
Clu	C	G	14: 65,973,366	Q134E	probably damaging	Het
Cnksr3	T	A	10: 7,160,777	H28L	probably benign	Het
Cntnap1	T	C	11: 101,176,333		probably null	Het
Col22a1	C	T	15: 71,861,066	C546Y	unknown	Het
Col6a3	C	T	1: 90,778,843	V2183I	unknown	Het
Cop1	A	G	1: 159,325,068		probably benign	Het
Cpne8	T	C	15: 90,679,235	I24V	probably benign	Het
Cspp1	T	A	1: 10,126,463	N900K	probably damaging	Het
Dennd5b	G	A	6: 149,009,772	L978F	possibly damaging	Het
Depdc1a	G	T	3: 159,523,913	M627I	probably benign	Het
Dnah3	A	T	7: 119,956,201	N2721K	probably benign	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Homo
Dsg1b	A	G	18: 20,408,868	T811A	possibly damaging	Het
Emilin1	C	G	5: 30,919,351	Q847E	probably benign	Het
Epha3	A	T	16: 63,652,412	V370D	probably benign	Het
Epha5	T	A	5: 84,150,483	T406S	probably damaging	Het
Ephb1	A	T	9: 102,040,960	I450N	probably benign	Het
Ephb2	A	G	4: 136,696,010	M319T	probably benign	Het
Eps15l1	A	G	8: 72,378,989		probably null	Het
Fbxo9	G	A	9: 78,085,886		probably benign	Het
Fgd5	T	C	6: 91,989,300	I838T	probably damaging	Het
Fnbp4	T	C	2: 90,765,830	F582L	probably damaging	Het
Frs3	T	C	17: 47,689,262		probably null	Het
Fscb	C	T	12: 64,473,619	V358I	possibly damaging	Het
Fus	G	T	7: 127,967,555		probably benign	Het
Fyb	CCTCTCTCTCTCTCTCTCTCT	CCTCTCTCTCTCTCTCTCT	15: 6,646,611		probably benign	Het
Glra3	A	T	8: 55,991,235	I77F	possibly damaging	Het
Gm4454	C	T	7: 38,570,436		noncoding transcript	Het
Gng3	G	A	19: 8,838,261	A37V	possibly damaging	Het
Grin3b	T	A	10: 79,976,357		probably benign	Het
Herpud1	A	G	8: 94,391,794	Y41C	probably damaging	Het
Igkv4-92	G	C	6: 68,755,044	S115R	possibly damaging	Het
Ikbip	T	A	10: 91,095,986	I164N	probably benign	Het
Kank1	A	G	19: 25,411,395	T783A	probably benign	Het
Kcnq3	A	T	15: 66,031,405	V152E	possibly damaging	Het
Kif23	C	T	9: 61,931,871	R314H	probably damaging	Het
Klc4	T	C	17: 46,644,361	H49R	probably benign	Het
Klhl20	A	T	1: 161,103,005	I309N	possibly damaging	Het
Lgals4	A	G	7: 28,841,276	Y268C	probably damaging	Het
Lingo4	A	G	3: 94,399,454	Q13R	probably benign	Het
Lmtk2	C	A	5: 144,176,447	F1328L	probably damaging	Het
Mapk14	A	G	17: 28,741,791	R179G	probably damaging	Het
Mbd3l1	A	T	9: 18,484,905	T109S	probably benign	Het
Megf6	T	C	4: 154,267,450	F1169L	possibly damaging	Het
Mrgpra1	A	T	7: 47,335,211	V240D	probably damaging	Het
Muc6	G	A	7: 141,638,400	S2120F	possibly damaging	Het
Myh1	T	C	11: 67,224,474		probably benign	Het
Nav3	T	C	10: 109,880,692	I172V	probably benign	Het
Nemp1	T	A	10: 127,693,530	L178Q	probably damaging	Het
Olfr1076	T	C	2: 86,508,827	Y123H	probably damaging	Het
Olfr1222	T	C	2: 89,125,501	T77A	probably benign	Het
Olfr1248	A	G	2: 89,617,425	Y256H	probably damaging	Het
Olfr1500	A	T	19: 13,828,094	F101I	probably damaging	Het
Olfr639	A	G	7: 104,012,105	I199T	probably damaging	Het
Olfr995	A	G	2: 85,438,469	S230P	probably damaging	Het
Pard3b	T	G	1: 62,344,060	M771R	probably damaging	Het
Phkg2	A	G	7: 127,582,379	I245V	probably damaging	Het
Pik3cg	A	T	12: 32,204,104	M628K	possibly damaging	Het
Poln	A	G	5: 34,107,085		probably null	Het
Ppip5k1	A	T	2: 121,312,390	S1172T	probably damaging	Het
Prdm5	A	T	6: 65,870,462	H363L	probably damaging	Het
Prkdc	A	G	16: 15,678,309	Y788C	probably damaging	Het
Prrc2c	T	A	1: 162,692,547	R2076S	probably damaging	Het
Sh2d2a	A	G	3: 87,849,421	Y191C	probably damaging	Het
Slc20a1	T	C	2: 129,199,999	I94T	probably damaging	Het
Sptbn2	T	C	19: 4,751,658	V2366A	probably benign	Het
Stab2	T	A	10: 86,960,223	M387L	probably benign	Het
Syne2	T	G	12: 75,941,219	M1718R	probably damaging	Het
Synm	G	T	7: 67,734,487	F700L	probably benign	Het
Tmco4	T	C	4: 138,990,701	F51L	possibly damaging	Het
Tmem104	C	A	11: 115,205,136	P168T	probably damaging	Het
Tril	G	T	6: 53,818,920	T439K	probably benign	Het
Trim2	A	G	3: 84,177,735	L559P	probably damaging	Het
Trim3	A	G	7: 105,619,128	V149A	probably damaging	Het
Triml2	A	G	8: 43,187,680	N191S	probably benign	Het
Usp4	A	G	9: 108,381,418	D16G	probably benign	Het
Vmn2r58	G	A	7: 41,837,461	T670I	probably damaging	Het
Vmn2r97	G	T	17: 18,940,174	G524*	probably null	Het
Xpo5	C	A	17: 46,220,817	F426L	probably damaging	Het
Zfp800	A	G	6: 28,247,191	L84S	probably damaging	Het
Zranb2	T	G	3: 157,546,741		probably benign	Het
Zswim4	C	T	8: 84,226,667		probably null	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	unclassified	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	unclassified	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	unclassified	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
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
R7374:Numa1	UTSW	7	102009128	missense	probably benign	0.00
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
R7969:Numa1	UTSW	7	102013865	missense	probably benign	0.27
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'- GAGCCCTTGGATTTATTTTGGAAA -3'
(R):5'- GGGGAATGACATTACTGCAGTA -3'

Sequencing Primer
(F):5'- TCCTCTAGAAGAGTAGCCAGTGC -3'
(R):5'- TGACATTACTGCAGTATCATTTCC -3'

Posted On

2016-05-10