Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02136:Ncapg2'

281324

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ncapg2

Ensembl Gene

ENSMUSG00000042029

Gene Name

non-SMC condensin II complex, subunit G2

Synonyms

Luzp5, 5830426I05Rik, mCAP-G2, Mtb

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02136

Quality Score

Status

Chromosome

Chromosomal Location

116405402-116463731 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 116460583 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 1129 (M1129L)

Ref Sequence

ENSEMBL: ENSMUSP00000081889 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084828]

Predicted Effect

probably benign
Transcript: ENSMUST00000084828
AA Change: M1129L

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

SMART Domains

Protein: ENSMUSP00000081889
Gene: ENSMUSG00000042029
AA Change: M1129L

Domain	Start	End	E-Value	Type
low complexity region	14	25	N/A	INTRINSIC
Pfam:Condensin2nSMC	212	361	7.2e-62	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222761

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the Condensin2nSMC family of proteins. The encoded protein is a regulatory subunit of the condensin II complex which, along with the condensin I complex, plays a role in chromosome assembly and segregation during mitosis. A similar protein in mouse is required for early development of the embryo. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
PHENOTYPE: Homozygous null embryos exhibit impaired inner cell mass expansion and die shortly after implantation and prior to gastrulation and blood cell development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	G	T	1: 71,247,142	T2511K	probably damaging	Het
Acta2	T	A	19: 34,251,830	D53V	probably damaging	Het
Banf1	G	A	19: 5,365,070	A71V	probably benign	Het
Cacng5	A	T	11: 107,881,731	I97N	probably benign	Het
Clec14a	T	A	12: 58,268,629	E69V	probably damaging	Het
Cracr2a	T	C	6: 127,629,930		probably benign	Het
Dysf	A	G	6: 84,108,167	R845G	probably benign	Het
Dzip3	T	C	16: 48,927,582	N949S	possibly damaging	Het
Eprs	T	G	1: 185,384,983	W408G	probably damaging	Het
Fgf14	G	A	14: 123,980,372	P240S	possibly damaging	Het
Fpgt	G	T	3: 155,093,352	A2E	probably benign	Het
Galntl5	T	A	5: 25,220,062	S392R	probably benign	Het
Gatd1	A	G	7: 141,408,960	*221Q	probably null	Het
Gcsam	T	A	16: 45,610,533	M1K	probably null	Het
Ksr2	A	G	5: 117,616,894	N351S	possibly damaging	Het
Map1a	T	C	2: 121,300,212	V503A	probably damaging	Het
Myl12a	T	A	17: 70,996,856	K9*	probably null	Het
Olfr228	T	C	2: 86,483,465	I92M	probably damaging	Het
Olfr744	T	C	14: 50,618,251	S10P	possibly damaging	Het
Otof	T	C	5: 30,373,992	K1691E	possibly damaging	Het
Pdk4	A	T	6: 5,486,715	M353K	probably damaging	Het
Pkhd1	A	T	1: 20,275,615	W2730R	probably damaging	Het
Pkn2	T	A	3: 142,853,590	K58I	probably damaging	Het
Plk5	T	C	10: 80,363,167		probably null	Het
Prkcq	T	C	2: 11,260,668	F399L	probably benign	Het
Ptprz1	G	A	6: 22,972,822	V244M	probably damaging	Het
Rpusd2	T	C	2: 119,038,178	F361L	probably damaging	Het
Rttn	T	A	18: 89,046,128	L1168I	possibly damaging	Het
S100a9	T	C	3: 90,692,768	H107R	probably benign	Het
Serpinb3a	T	A	1: 107,046,285	M299L	probably benign	Het
Slfn8	G	A	11: 83,003,465	Q783*	probably null	Het
Smc3	T	C	19: 53,635,716	I721T	probably benign	Het
Top2b	C	A	14: 16,407,103		probably benign	Het
Uvssa	T	A	5: 33,391,848	W351R	probably damaging	Het
Vmn2r107	G	T	17: 20,374,906	V574L	probably benign	Het
Wdr3	G	A	3: 100,138,725	R931*	probably null	Het

Other mutations in Ncapg2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01410:Ncapg2	APN	12	116424650	missense	possibly damaging	0.54
IGL01694:Ncapg2	APN	12	116407230	utr 5 prime	probably benign
IGL01724:Ncapg2	APN	12	116426711	missense	probably damaging	1.00
IGL01792:Ncapg2	APN	12	116425818	missense	probably damaging	0.99
IGL02098:Ncapg2	APN	12	116444332	missense	possibly damaging	0.59
IGL02409:Ncapg2	APN	12	116420717	missense	probably damaging	1.00
IGL02580:Ncapg2	APN	12	116420689	missense	probably damaging	1.00
IGL02653:Ncapg2	APN	12	116425906	critical splice donor site	probably null
IGL03073:Ncapg2	APN	12	116452274	missense	probably benign	0.01
IGL03114:Ncapg2	APN	12	116452373	splice site	probably benign
IGL03199:Ncapg2	APN	12	116419236	missense	probably damaging	1.00
IGL03328:Ncapg2	APN	12	116440057	missense	possibly damaging	0.90
P0033:Ncapg2	UTSW	12	116438635	missense	probably benign	0.03
R0008:Ncapg2	UTSW	12	116429835	missense	probably damaging	1.00
R0194:Ncapg2	UTSW	12	116420683	splice site	probably null
R0379:Ncapg2	UTSW	12	116443075	missense	probably damaging	1.00
R0568:Ncapg2	UTSW	12	116423215	missense	probably damaging	1.00
R0771:Ncapg2	UTSW	12	116413159	nonsense	probably null
R1016:Ncapg2	UTSW	12	116438675	missense	probably damaging	1.00
R1507:Ncapg2	UTSW	12	116460566	missense	probably benign	0.00
R1524:Ncapg2	UTSW	12	116434578	splice site	probably benign
R1596:Ncapg2	UTSW	12	116419236	missense	probably damaging	1.00
R1635:Ncapg2	UTSW	12	116434685	frame shift	probably null
R1752:Ncapg2	UTSW	12	116426718	missense	probably damaging	1.00
R2164:Ncapg2	UTSW	12	116450475	splice site	probably null
R2266:Ncapg2	UTSW	12	116429676	missense	probably damaging	1.00
R2366:Ncapg2	UTSW	12	116420729	nonsense	probably null
R2924:Ncapg2	UTSW	12	116438729	missense	probably benign	0.03
R2925:Ncapg2	UTSW	12	116438729	missense	probably benign	0.03
R3828:Ncapg2	UTSW	12	116407318	splice site	probably benign
R3829:Ncapg2	UTSW	12	116407318	splice site	probably benign
R4384:Ncapg2	UTSW	12	116439877	critical splice donor site	probably null
R4651:Ncapg2	UTSW	12	116425787	missense	probably damaging	1.00
R4701:Ncapg2	UTSW	12	116440618	missense	probably benign
R4821:Ncapg2	UTSW	12	116415457	missense	probably damaging	0.99
R4845:Ncapg2	UTSW	12	116440588	missense	probably damaging	0.96
R5135:Ncapg2	UTSW	12	116427786	missense	possibly damaging	0.64
R5294:Ncapg2	UTSW	12	116427794	missense	possibly damaging	0.54
R5334:Ncapg2	UTSW	12	116426637	missense	probably damaging	1.00
R5588:Ncapg2	UTSW	12	116413077	missense	possibly damaging	0.95
R5888:Ncapg2	UTSW	12	116425800	missense	possibly damaging	0.84
R5938:Ncapg2	UTSW	12	116429657	missense	probably damaging	1.00
R5978:Ncapg2	UTSW	12	116424671	missense	possibly damaging	0.68
R6016:Ncapg2	UTSW	12	116426607	missense	probably damaging	1.00
R6026:Ncapg2	UTSW	12	116443021	missense	possibly damaging	0.73
R6155:Ncapg2	UTSW	12	116438011	missense	possibly damaging	0.83
R6509:Ncapg2	UTSW	12	116427756	missense	probably damaging	1.00
R6675:Ncapg2	UTSW	12	116434661	missense	possibly damaging	0.71
R6912:Ncapg2	UTSW	12	116426582	missense	probably benign
R7069:Ncapg2	UTSW	12	116424717	splice site	probably null
R7339:Ncapg2	UTSW	12	116414834	missense	probably damaging	0.96
R7440:Ncapg2	UTSW	12	116450413	missense	possibly damaging	0.89
R7445:Ncapg2	UTSW	12	116419268	missense	possibly damaging	0.50
R7704:Ncapg2	UTSW	12	116419277	missense	probably damaging	1.00
R8061:Ncapg2	UTSW	12	116426577	missense	probably benign
X0020:Ncapg2	UTSW	12	116424707	missense	probably damaging	1.00
Z1177:Ncapg2	UTSW	12	116438605	missense	probably damaging	0.99

Posted On

2015-04-16