Mutagenetix > Incidental Mutation

Incidental Mutation 'RF013:Numa1'

603337

Institutional Source

Beutler Lab

Gene Symbol

Numa1

Ensembl Gene

ENSMUSG00000066306

Gene Name

nuclear mitotic apparatus protein 1

Synonyms

6720401E04Rik

Accession Numbers

Genbank: NM_133947.3; Ensembl: ENSMUST00000084852

Essential gene?

Essential (E-score: 1.000) question?

Stock #

RF013 (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 101999780 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 906 (L906P)

Ref Sequence

ENSEMBL: ENSMUSP00000081912 (fasta)

Gene Model

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

AlphaFold

E9Q7G0

Predicted Effect

probably damaging
Transcript: ENSMUST00000084852
AA Change: L906P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000081912
Gene: ENSMUSG00000066306
AA Change: L906P

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

probably benign
Transcript: ENSMUST00000209639

Predicted Effect

probably damaging
Transcript: ENSMUST00000210475
AA Change: L906P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000210679

Predicted Effect

probably benign
Transcript: ENSMUST00000211272

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.9%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019N19Rik	A	G	19: 58,789,294	F28S	probably damaging	Het
4930435E12Rik	T	C	16: 38,828,001	T249A	probably benign	Het
4932438A13Rik	TTAT	TTATTATTATTATTAGTAT	3: 37,050,757		probably benign	Het
Acap3	CCTGGGCTGCTG	CCTGGGCTGCTGCATACTGGGCTGCTG	4: 155,905,096		probably benign	Het
Adamts9	A	G	6: 92,943,145	V4A	possibly damaging	Het
AI837181	GGC	GGCTGC	19: 5,425,232		probably benign	Het
Alk	A	G	17: 71,895,936	Y1135H	probably damaging	Het
Ankhd1	CGGCGG	CGGCGGAGGCGG	18: 36,560,926		probably benign	Het
Ano3	A	C	2: 110,697,036	L609R	probably benign	Het
Bicc1	A	G	10: 70,935,830		probably null	Het
Card6	T	C	15: 5,100,142	I591V	probably benign	Het
Ccdc18	A	G	5: 108,220,716	N1235D	probably benign	Het
Cd109	TTAT	TTATTTATTTATCTAT	9: 78,712,531		probably benign	Het
Cnpy3	CCT	CCTGCT	17: 46,736,744		probably benign	Het
Col6a5	GCAGTC	GCAGTCTCCAGTC	9: 105,878,597		probably null	Het
Cyb5r4	GACACACTGCCCAGGGA	GACACACTGCCCAGGGATGTGACACACACACTGCCCAGGGA	9: 87,040,432		probably benign	Het
Cyp8b1	A	T	9: 121,915,495	M257K	possibly damaging	Het
Dbf4	A	T	5: 8,397,985	H408Q	possibly damaging	Het
Defb22	TTGCGGCA	TTGCGGCAGAGCTGGCCTGTGCGGCA	2: 152,485,831		probably benign	Het
Ercc6l2	A	T	13: 63,853,017	T417S	probably benign	Het
Exd2	AGCCACAG	A	12: 80,475,932		probably null	Het
Fam171b	GC	GCAGCATC	2: 83,812,895		probably benign	Het
Fam71e1	CCTGGGTCTGAGGGAGGA	CCTGGGTCTGAGGGAGGACGGCTGGATCCTGGATCACTGGGTCTGAGGGAGGA	7: 44,500,520		probably null	Het
Flvcr2	T	A	12: 85,747,186	L112Q	probably damaging	Het
Flywch1	GTG	GTGGGGGGAGGCTACGTACTCACCCACTCCTTTTG	17: 23,762,175		probably null	Het
Gabre	TCAGGCTCAGGCT	TCAGGCTCAGGCTCAGGCT	X: 72,270,416		probably benign	Het
Gm4884	C	A	7: 41,040,809	P43Q	probably damaging	Het
Gm6588	T	A	5: 112,450,071	N161K	probably benign	Het
Grm8	A	G	6: 27,363,780	W579R	probably damaging	Het
Hsdl2	AG	AGCAGCAGCCACAGCTGCCG	4: 59,610,657		probably benign	Het
Ivl	CTGCTGCTGCTGCTGT	C	3: 92,572,343		probably benign	Het
Kif18b	T	C	11: 102,912,366	D506G	probably benign	Het
Krtap28-10	AGCCAC	AGCCACGGCCAC	1: 83,042,135		probably benign	Het
Krtap28-10	GCCACAGCCACCACA	GCCACAGCCACCACATCCACAGCCACCACA	1: 83,042,274		probably benign	Het
Lama1	C	A	17: 67,781,062	S1558R		Het
Lcmt1	C	CCGCGGGGCTT	7: 123,369,836		probably null	Het
Lmna	A	G	3: 88,484,054	V494A	probably benign	Het
Mapk6	CCAC	CCACCTCAC	9: 75,388,260		probably null	Het
Mboat7	T	A	7: 3,691,857	H52L	probably damaging	Het
Med12l	CAG	CAGAAG	3: 59,275,966		probably benign	Het
Morc2a	T	A	11: 3,676,191	M225K	probably benign	Het
Mpdz	G	A	4: 81,293,592	A1566V	possibly damaging	Het
Mpi	T	C	9: 57,548,641	D186G	probably benign	Het
Mtmr12	C	A	15: 12,261,898	N386K	probably damaging	Het
Myh3	ATTAC	ATTACTTAC	11: 67,086,356		probably null	Het
Myo10	T	A	15: 25,799,479	M1376K	probably damaging	Het
Nbas	C	T	12: 13,279,408	T118I	possibly damaging	Het
Nedd4l	C	T	18: 65,209,680	R755C	probably damaging	Het
Nefh	GACTTGGCCTCACCTGGG	GACTTGGCCTCACCTGGGTACTTGGCCTCACCTGGG	11: 4,941,032		probably benign	Het
Olfr750	G	A	14: 51,071,012	A127V	probably damaging	Het
Olfr871	T	C	9: 20,212,894	S182P	probably benign	Het
Otop2	G	T	11: 115,323,666	R83L	probably benign	Het
Pmm1	T	A	15: 81,957,813	Q62L	probably damaging	Het
Pramef25	C	G	4: 143,948,908	Q449H	probably damaging	Het
Ptprj	A	T	2: 90,471,170	L206*	probably null	Het
Rassf6	TC	TCTGCCTCACTCATGGTCCTGTAGAGCATTGGGGATCC	5: 90,608,941		probably benign	Het
Rps19	A	AGAAAAT	7: 24,889,180		probably benign	Het
Rsrp1	T	A	4: 134,923,955	V10E	unknown	Het
Sh2d6	C	T	6: 72,516,388		probably null	Het
Six4	TG	T	12: 73,103,582		probably null	Het
Slc6a15	T	A	10: 103,400,216	V264D	probably damaging	Het
Snapc5	ATGGAAGAAGAGG	A	9: 64,182,211		probably benign	Het
Sost	A	T	11: 101,964,132	I117N	probably damaging	Het
Tbc1d22a	AGGTGTGTG	A	15: 86,299,774		probably null	Het
Tcaf1	C	T	6: 42,679,173	V290I	probably benign	Het
Tcof1	GCA	GCACCA	18: 60,835,743		probably benign	Het
Tgfbr1	A	G	4: 47,353,354	I15V	unknown	Het
Tmem241	A	T	18: 11,983,561	L288Q	probably damaging	Het
Tnfrsf13b	T	G	11: 61,141,444	V100G	probably benign	Het
Trim66	A	G	7: 109,460,753	S809P	probably damaging	Het
Tubb4a	C	G	17: 57,087,464	G17A	possibly damaging	Het
Txndc16	A	G	14: 45,169,338	V220A	probably benign	Het
Zan	T	A	5: 137,391,720	Q4830L	unknown	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
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
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
R8677:Numa1	UTSW	7	102000941	missense	probably damaging	0.99
R8683:Numa1	UTSW	7	101977410	start codon destroyed	probably null	0.09
R8786:Numa1	UTSW	7	101998409	missense	probably benign	0.45
R8855:Numa1	UTSW	7	101990628	missense	possibly damaging	0.92
R8881:Numa1	UTSW	7	102001477	missense	probably benign	0.01
R9127:Numa1	UTSW	7	101992662	missense	possibly damaging	0.90
R9153:Numa1	UTSW	7	101999911	missense	probably benign	0.01
R9214:Numa1	UTSW	7	102000932	missense	probably damaging	0.99
R9294:Numa1	UTSW	7	101995416	missense	possibly damaging	0.77
R9294:Numa1	UTSW	7	102012796	missense	probably damaging	1.00
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'- GGCAGTAGAGATCCACAGTG -3'
(R):5'- TGGCTCTTGATCAGTGCTGC -3'

Sequencing Primer
(F):5'- GATCCACAGTGAAGGCCAGC -3'
(R):5'- ACCGCCCATCTGCTCAG -3'

Posted On

2019-12-04