Mutagenetix > Incidental Mutation

Incidental Mutation 'R8022:Ncapg'

617440

Institutional Source

Beutler Lab

Gene Symbol

Ncapg

Ensembl Gene

ENSMUSG00000015880

Gene Name

non-SMC condensin I complex, subunit G

Synonyms

5730507H05Rik, MFT.M05.13, Hcapg

MMRRC Submission

067461-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R8022 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45669919-45700546 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45681794 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 512 (D512G)

Ref Sequence

ENSEMBL: ENSMUSP00000112871 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000117396]

AlphaFold

E9PWG6

Predicted Effect

probably damaging
Transcript: ENSMUST00000117396
AA Change: D512G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112871
Gene: ENSMUSG00000015880
AA Change: D512G

Domain	Start	End	E-Value	Type
Pfam:Cnd3	557	863	7.4e-87	PFAM
low complexity region	864	874	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the condensin complex, which is responsible for the condensation and stabilization of chromosomes during mitosis and meiosis. Phosphorylation of the encoded protein activates the condensin complex. There are pseudogenes for this gene on chromosomes 8 and 15. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	T	5: 114,223,854	T1386S	probably benign	Het
AI661453	T	G	17: 47,466,236	S296A	unknown	Het
Ambp	G	T	4: 63,144,197	N268K	probably damaging	Het
Ankrd11	T	C	8: 122,887,593	K2503E	probably damaging	Het
Ap1g1	C	A	8: 109,832,735	R221S	possibly damaging	Het
Ap5z1	T	C	5: 142,470,149		probably null	Het
Aspa	A	C	11: 73,322,206	N103K	probably benign	Het
BC049730	T	A	7: 24,714,174	I205N	possibly damaging	Het
Bend7	G	A	2: 4,752,779	V211I	probably benign	Het
Bsn	A	G	9: 108,114,404	M1383T	probably benign	Het
Cad	G	T	5: 31,068,806	V1117F	probably damaging	Het
Cdh2	A	G	18: 16,590,301	L856S	probably damaging	Het
Cdh7	T	A	1: 110,061,108	S247T	probably benign	Het
Ces1b	A	G	8: 93,069,315		probably null	Het
Chd7	T	A	4: 8,751,605	V34E	unknown	Het
Clca3a2	A	T	3: 144,805,766	F623I	probably damaging	Het
Cope	T	G	8: 70,312,803	M217R	probably benign	Het
Crim1	T	A	17: 78,315,555	I394N	possibly damaging	Het
Crnkl1	A	T	2: 145,918,566	I644N	probably damaging	Het
Cry1	G	A	10: 85,146,402	A360V	probably damaging	Het
Ctcfl	A	T	2: 173,118,766	V8D	probably benign	Het
Cyp2d34	G	A	15: 82,616,114	Q475*	probably null	Het
Cyp39a1	T	C	17: 43,746,577	Y436H	probably damaging	Het
Cyp3a25	T	A	5: 145,977,668	Q484L	probably benign	Het
Dnah1	A	G	14: 31,265,014	F3607S	probably damaging	Het
Dnali1	T	A	4: 125,065,530	K23N	possibly damaging	Het
Ecel1	T	C	1: 87,153,330	I313V	probably benign	Het
Ehhadh	C	A	16: 21,777,820	A53S	probably benign	Het
Epcam	T	C	17: 87,646,308	S277P	probably benign	Het
Fbxo10	T	C	4: 45,062,062	I155V	possibly damaging	Het
Fgd6	A	T	10: 94,044,344	K353N	possibly damaging	Het
Glce	A	T	9: 62,060,591	M426K	probably benign	Het
Glmp	A	T	3: 88,326,520	N228I	probably damaging	Het
Gm4787	C	A	12: 81,377,720	V555F	possibly damaging	Het
Gm5114	T	A	7: 39,409,376	H273L	probably benign	Het
Gzmg	T	A	14: 56,157,446	T122S	probably benign	Het
Hace1	T	C	10: 45,700,970	V820A	probably damaging	Het
Igf2r	T	A	17: 12,718,795	D535V	probably damaging	Het
Kcnd3	A	G	3: 105,458,873	M20V	probably benign	Het
Kcnn3	T	G	3: 89,609,703	I473S	possibly damaging	Het
Klhl35	T	A	7: 99,473,239	F94Y	unknown	Het
Kmt2c	C	T	5: 25,281,680	V4712I	possibly damaging	Het
Lepr	A	G	4: 101,782,557	E740G	probably benign	Het
Lmod3	T	C	6: 97,248,299	D187G	probably benign	Het
Lsm3	C	T	6: 91,519,561	H49Y	probably benign	Het
Magi1	T	C	6: 93,697,365	S962G	probably damaging	Het
Man2b1	G	A	8: 85,095,613	R782Q	probably damaging	Het
Mical2	A	T	7: 112,303,767	K148N	probably damaging	Het
Nbeal1	C	T	1: 60,260,272	Q1256*	probably null	Het
Ncam1	G	T	9: 49,564,892	A299D	possibly damaging	Het
Nkiras2	A	G	11: 100,624,287	N28D	probably benign	Het
Nprl2	A	C	9: 107,543,061	K53T	probably damaging	Het
Nr4a3	T	A	4: 48,051,510	I88N	probably damaging	Het
Oas3	A	G	5: 120,756,966	I986T	possibly damaging	Het
Olfr809	A	T	10: 129,776,785	L305F	possibly damaging	Het
Pcsk1	A	T	13: 75,099,293	Y187F	possibly damaging	Het
Pgc	A	G	17: 47,728,776	T32A	probably benign	Het
Ranbp2	A	C	10: 58,485,861	D2660A	possibly damaging	Het
Retreg1	A	G	15: 25,843,479	R46G		Het
Rrbp1	C	A	2: 143,956,792	K1100N	probably benign	Het
Rsph10b	A	T	5: 143,967,232	T676S	probably benign	Het
Setdb1	A	T	3: 95,338,599	F672I	probably damaging	Het
Setdb1	T	A	3: 95,347,085	D195V	probably damaging	Het
Slc12a8	A	G	16: 33,625,086	E450G	probably benign	Het
Slc1a7	G	A	4: 108,012,276	V513M	probably benign	Het
Slc25a12	A	T	2: 71,275,189	V667E	unknown	Het
Slc39a3	T	C	10: 81,031,277	T212A	probably benign	Het
Slc45a1	C	T	4: 150,638,309	G373S	possibly damaging	Het
Snx11	G	A	11: 96,772,854	T53M	probably damaging	Het
Snx33	A	G	9: 56,925,340	F482L	possibly damaging	Het
Srebf2	C	T	15: 82,178,765	R468C	probably damaging	Het
Stk32a	C	T	18: 43,315,101	Q382*	probably null	Het
Sun3	C	A	11: 9,023,376	S167I	probably damaging	Het
Sycp2	A	G	2: 178,355,062	L1116P	probably damaging	Het
Thbs4	T	G	13: 92,752,447	T913P	probably damaging	Het
Trav8d-1	C	T	14: 52,778,827	Q57*	probably null	Het
Trio	C	G	15: 27,749,866	V2250L	probably benign	Het
Unc119b	A	T	5: 115,127,043	I204N	probably damaging	Het
Usp4	A	G	9: 108,378,471	E576G	probably damaging	Het
Uvssa	T	A	5: 33,409,504	L515Q	probably damaging	Het
Xkr8	T	C	4: 132,732,338	Y43C	probably damaging	Het
Xpo6	G	A	7: 126,169,254	L94F	probably benign	Het
Zbtb11	A	G	16: 56,006,020	K804R	probably damaging	Het
Zfp616	A	G	11: 74,084,068	R479G	probably benign	Het
Zfp661	T	C	2: 127,577,924	T99A	probably benign	Het
Zfp839	A	T	12: 110,855,098	Q115H	probably damaging	Het
Zyg11a	C	T	4: 108,189,568		probably null	Het

Other mutations in Ncapg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00662:Ncapg	APN	5	45693160	missense	possibly damaging	0.53
IGL00777:Ncapg	APN	5	45695765	missense	possibly damaging	0.93
IGL00857:Ncapg	APN	5	45676585	splice site	probably null
IGL00916:Ncapg	APN	5	45671192	missense	probably benign	0.37
IGL01293:Ncapg	APN	5	45681854	missense	probably benign	0.01
IGL01360:Ncapg	APN	5	45674385	nonsense	probably null
IGL01462:Ncapg	APN	5	45671135	missense	probably benign	0.02
IGL01527:Ncapg	APN	5	45672384	missense	possibly damaging	0.71
IGL01732:Ncapg	APN	5	45693853	missense	probably damaging	1.00
IGL01788:Ncapg	APN	5	45671081	missense	probably damaging	0.97
IGL01871:Ncapg	APN	5	45688581	missense	probably benign	0.09
IGL03106:Ncapg	APN	5	45695668	missense	probably damaging	1.00
IGL03124:Ncapg	APN	5	45671209	missense	probably benign
R0086:Ncapg	UTSW	5	45676744	splice site	probably null
R0109:Ncapg	UTSW	5	45693748	splice site	probably null
R0110:Ncapg	UTSW	5	45693147	unclassified	probably benign
R0377:Ncapg	UTSW	5	45693817	missense	probably benign
R0432:Ncapg	UTSW	5	45672428	missense	probably damaging	0.99
R0637:Ncapg	UTSW	5	45687324	missense	probably damaging	1.00
R0835:Ncapg	UTSW	5	45681448	missense	probably damaging	0.96
R0894:Ncapg	UTSW	5	45679894	missense	probably null	0.24
R1069:Ncapg	UTSW	5	45675930	intron	probably benign
R1216:Ncapg	UTSW	5	45699919	missense	possibly damaging	0.68
R1967:Ncapg	UTSW	5	45699910	missense	probably damaging	0.99
R2396:Ncapg	UTSW	5	45678373	missense	probably benign	0.00
R3157:Ncapg	UTSW	5	45676058	missense	probably benign
R3735:Ncapg	UTSW	5	45696127	missense	probably benign	0.00
R3736:Ncapg	UTSW	5	45696127	missense	probably benign	0.00
R3887:Ncapg	UTSW	5	45674363	missense	probably benign
R4371:Ncapg	UTSW	5	45678455	missense	probably benign
R4545:Ncapg	UTSW	5	45671212	missense	probably damaging	1.00
R4546:Ncapg	UTSW	5	45671212	missense	probably damaging	1.00
R4558:Ncapg	UTSW	5	45676644	missense	probably benign	0.00
R4615:Ncapg	UTSW	5	45687399	missense	probably benign	0.00
R4938:Ncapg	UTSW	5	45671209	missense	probably benign
R5839:Ncapg	UTSW	5	45672278	missense	probably damaging	0.99
R5871:Ncapg	UTSW	5	45695697	missense	probably damaging	1.00
R6086:Ncapg	UTSW	5	45693236	missense	probably damaging	1.00
R6418:Ncapg	UTSW	5	45681816	missense	probably damaging	1.00
R6617:Ncapg	UTSW	5	45670132	missense	probably benign	0.03
R7145:Ncapg	UTSW	5	45670030	missense	possibly damaging	0.82
R7408:Ncapg	UTSW	5	45695793	missense	probably benign	0.00
R7443:Ncapg	UTSW	5	45672310	missense	probably benign	0.31
R7463:Ncapg	UTSW	5	45694092	splice site	probably null
R7509:Ncapg	UTSW	5	45696108	missense	probably benign	0.01
R7687:Ncapg	UTSW	5	45699885	missense	probably benign	0.03
R7919:Ncapg	UTSW	5	45696048	missense	probably benign	0.00
R8177:Ncapg	UTSW	5	45693753	missense	probably benign	0.00
R8261:Ncapg	UTSW	5	45687388	missense	possibly damaging	0.90
R8263:Ncapg	UTSW	5	45691792	missense	probably benign	0.44
R8324:Ncapg	UTSW	5	45695668	missense	probably damaging	1.00
R8333:Ncapg	UTSW	5	45674463	missense	probably damaging	0.96
R8742:Ncapg	UTSW	5	45693874	missense	probably damaging	1.00
R9026:Ncapg	UTSW	5	45695773	missense	probably benign	0.00
R9051:Ncapg	UTSW	5	45695798	missense	probably damaging	1.00
R9076:Ncapg	UTSW	5	45676641	missense	probably benign
R9122:Ncapg	UTSW	5	45688673	missense	possibly damaging	0.95
R9751:Ncapg	UTSW	5	45693853	missense	probably damaging	1.00
R9776:Ncapg	UTSW	5	45672492	missense	probably damaging	0.96
RF019:Ncapg	UTSW	5	45698856	missense	probably benign	0.00
Z1088:Ncapg	UTSW	5	45679880	missense	probably damaging	1.00
Z1177:Ncapg	UTSW	5	45672502	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGGACATGCAAATTGTTACCAG -3'
(R):5'- CCCTCCAAAGTAAATAAATTCTGGC -3'

Sequencing Primer
(F):5'- GTCTTTGAGATATTGTGACAG -3'
(R):5'- GTTTGTTGAGCTAAGAGCAG -3'

Posted On

2020-01-23