Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03199:Ncapg2'

412930

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ncapg2

Ensembl Gene

ENSMUSG00000042029

Gene Name

non-SMC condensin II complex, subunit G2

Synonyms

5830426I05Rik, Mtb, mCAP-G2, Luzp5

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03199

Quality Score

Status

Chromosome

Chromosomal Location

116368969-116427152 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 116382856 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 229 (L229H)

Ref Sequence

ENSEMBL: ENSMUSP00000081889 (fasta)

Gene Model

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

AlphaFold

Q6DFV1

Predicted Effect

probably damaging
Transcript: ENSMUST00000084828
AA Change: L229H

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

SMART Domains

Protein: ENSMUSP00000081889
Gene: ENSMUSG00000042029
AA Change: L229H

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: ENSMUST00000220608

Meta Mutation Damage Score

0.7779

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	T	C	15: 81,946,556 (GRCm39)	I151T	possibly damaging	Het
Alms1	T	A	6: 85,599,479 (GRCm39)	M1904K	possibly damaging	Het
Chsy3	T	A	18: 59,309,473 (GRCm39)	F242Y	probably damaging	Het
Cwf19l2	G	A	9: 3,477,830 (GRCm39)	G845D	probably damaging	Het
Cyfip2	A	G	11: 46,167,670 (GRCm39)	I244T	probably benign	Het
Dnah10	A	T	5: 124,894,761 (GRCm39)	Q3499L	probably benign	Het
Fat3	A	G	9: 16,288,344 (GRCm39)	V393A	possibly damaging	Het
Fcamr	T	A	1: 130,740,655 (GRCm39)	V358D	probably damaging	Het
Fndc3c1	T	A	X: 105,479,993 (GRCm39)	K696N	possibly damaging	Het
Igkv2-112	G	A	6: 68,197,000 (GRCm39)	M12I	probably benign	Het
Macc1	T	C	12: 119,410,156 (GRCm39)	M308T	probably benign	Het
Map4k1	A	G	7: 28,682,842 (GRCm39)	E16G	probably damaging	Het
Myl7	C	T	11: 5,848,205 (GRCm39)	G50R	probably damaging	Het
Or10d4b	A	G	9: 39,535,240 (GRCm39)	I272V	probably benign	Het
Prkcz	A	G	4: 155,357,441 (GRCm39)	F157L	possibly damaging	Het
Sult2a1	C	A	7: 13,566,585 (GRCm39)	G130V	probably damaging	Het
Trim27	G	A	13: 21,375,421 (GRCm39)		probably null	Het
Trim43b	T	G	9: 88,971,481 (GRCm39)	Q225P	probably damaging	Het
Ugt2b34	A	G	5: 87,054,739 (GRCm39)	L14P	unknown	Het
Vmn1r209	A	T	13: 22,990,220 (GRCm39)	S157T	possibly damaging	Het
Vmn2r38	A	T	7: 9,078,375 (GRCm39)	V669D	probably damaging	Het
Vps35l	T	C	7: 118,365,611 (GRCm39)	S15P	probably benign	Het
Zfp422	T	C	6: 116,603,912 (GRCm39)	Q29R	probably benign	Het
Zfp623	C	T	15: 75,819,119 (GRCm39)	A25V	probably benign	Het

Other mutations in Ncapg2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01410:Ncapg2	APN	12	116,388,270 (GRCm39)	missense	possibly damaging	0.54
IGL01694:Ncapg2	APN	12	116,370,850 (GRCm39)	utr 5 prime	probably benign
IGL01724:Ncapg2	APN	12	116,390,331 (GRCm39)	missense	probably damaging	1.00
IGL01792:Ncapg2	APN	12	116,389,438 (GRCm39)	missense	probably damaging	0.99
IGL02098:Ncapg2	APN	12	116,407,952 (GRCm39)	missense	possibly damaging	0.59
IGL02136:Ncapg2	APN	12	116,424,203 (GRCm39)	missense	probably benign
IGL02409:Ncapg2	APN	12	116,384,337 (GRCm39)	missense	probably damaging	1.00
IGL02580:Ncapg2	APN	12	116,384,309 (GRCm39)	missense	probably damaging	1.00
IGL02653:Ncapg2	APN	12	116,389,526 (GRCm39)	critical splice donor site	probably null
IGL03073:Ncapg2	APN	12	116,415,894 (GRCm39)	missense	probably benign	0.01
IGL03114:Ncapg2	APN	12	116,415,993 (GRCm39)	splice site	probably benign
IGL03328:Ncapg2	APN	12	116,403,677 (GRCm39)	missense	possibly damaging	0.90
P0033:Ncapg2	UTSW	12	116,402,255 (GRCm39)	missense	probably benign	0.03
R0008:Ncapg2	UTSW	12	116,393,455 (GRCm39)	missense	probably damaging	1.00
R0194:Ncapg2	UTSW	12	116,384,303 (GRCm39)	splice site	probably null
R0379:Ncapg2	UTSW	12	116,406,695 (GRCm39)	missense	probably damaging	1.00
R0568:Ncapg2	UTSW	12	116,386,835 (GRCm39)	missense	probably damaging	1.00
R0771:Ncapg2	UTSW	12	116,376,779 (GRCm39)	nonsense	probably null
R1016:Ncapg2	UTSW	12	116,402,295 (GRCm39)	missense	probably damaging	1.00
R1507:Ncapg2	UTSW	12	116,424,186 (GRCm39)	missense	probably benign	0.00
R1524:Ncapg2	UTSW	12	116,398,198 (GRCm39)	splice site	probably benign
R1596:Ncapg2	UTSW	12	116,382,856 (GRCm39)	missense	probably damaging	1.00
R1635:Ncapg2	UTSW	12	116,398,305 (GRCm39)	frame shift	probably null
R1752:Ncapg2	UTSW	12	116,390,338 (GRCm39)	missense	probably damaging	1.00
R2164:Ncapg2	UTSW	12	116,414,095 (GRCm39)	splice site	probably null
R2266:Ncapg2	UTSW	12	116,393,296 (GRCm39)	missense	probably damaging	1.00
R2366:Ncapg2	UTSW	12	116,384,349 (GRCm39)	nonsense	probably null
R2924:Ncapg2	UTSW	12	116,402,349 (GRCm39)	missense	probably benign	0.03
R2925:Ncapg2	UTSW	12	116,402,349 (GRCm39)	missense	probably benign	0.03
R3828:Ncapg2	UTSW	12	116,370,938 (GRCm39)	splice site	probably benign
R3829:Ncapg2	UTSW	12	116,370,938 (GRCm39)	splice site	probably benign
R4384:Ncapg2	UTSW	12	116,403,497 (GRCm39)	critical splice donor site	probably null
R4651:Ncapg2	UTSW	12	116,389,407 (GRCm39)	missense	probably damaging	1.00
R4701:Ncapg2	UTSW	12	116,404,238 (GRCm39)	missense	probably benign
R4821:Ncapg2	UTSW	12	116,379,077 (GRCm39)	missense	probably damaging	0.99
R4845:Ncapg2	UTSW	12	116,404,208 (GRCm39)	missense	probably damaging	0.96
R5135:Ncapg2	UTSW	12	116,391,406 (GRCm39)	missense	possibly damaging	0.64
R5294:Ncapg2	UTSW	12	116,391,414 (GRCm39)	missense	possibly damaging	0.54
R5334:Ncapg2	UTSW	12	116,390,257 (GRCm39)	missense	probably damaging	1.00
R5588:Ncapg2	UTSW	12	116,376,697 (GRCm39)	missense	possibly damaging	0.95
R5888:Ncapg2	UTSW	12	116,389,420 (GRCm39)	missense	possibly damaging	0.84
R5938:Ncapg2	UTSW	12	116,393,277 (GRCm39)	missense	probably damaging	1.00
R5978:Ncapg2	UTSW	12	116,388,291 (GRCm39)	missense	possibly damaging	0.68
R6016:Ncapg2	UTSW	12	116,390,227 (GRCm39)	missense	probably damaging	1.00
R6026:Ncapg2	UTSW	12	116,406,641 (GRCm39)	missense	possibly damaging	0.73
R6155:Ncapg2	UTSW	12	116,401,631 (GRCm39)	missense	possibly damaging	0.83
R6509:Ncapg2	UTSW	12	116,391,376 (GRCm39)	missense	probably damaging	1.00
R6675:Ncapg2	UTSW	12	116,398,281 (GRCm39)	missense	possibly damaging	0.71
R6912:Ncapg2	UTSW	12	116,390,202 (GRCm39)	missense	probably benign
R7069:Ncapg2	UTSW	12	116,388,337 (GRCm39)	splice site	probably null
R7339:Ncapg2	UTSW	12	116,378,454 (GRCm39)	missense	probably damaging	0.96
R7440:Ncapg2	UTSW	12	116,414,033 (GRCm39)	missense	possibly damaging	0.89
R7445:Ncapg2	UTSW	12	116,382,888 (GRCm39)	missense	possibly damaging	0.50
R7704:Ncapg2	UTSW	12	116,382,897 (GRCm39)	missense	probably damaging	1.00
R8061:Ncapg2	UTSW	12	116,390,197 (GRCm39)	missense	probably benign
R8132:Ncapg2	UTSW	12	116,407,967 (GRCm39)	missense	possibly damaging	0.93
R8166:Ncapg2	UTSW	12	116,376,036 (GRCm39)	missense	probably benign	0.00
R8351:Ncapg2	UTSW	12	116,403,647 (GRCm39)	missense	possibly damaging	0.80
R8526:Ncapg2	UTSW	12	116,403,679 (GRCm39)	missense	probably benign	0.00
R8692:Ncapg2	UTSW	12	116,414,049 (GRCm39)	missense	probably damaging	1.00
R8739:Ncapg2	UTSW	12	116,379,098 (GRCm39)	missense	possibly damaging	0.75
R8766:Ncapg2	UTSW	12	116,390,356 (GRCm39)	missense	probably damaging	1.00
R8929:Ncapg2	UTSW	12	116,415,983 (GRCm39)	missense	probably damaging	1.00
R9046:Ncapg2	UTSW	12	116,376,145 (GRCm39)	missense	probably benign	0.01
R9187:Ncapg2	UTSW	12	116,402,287 (GRCm39)	missense	probably damaging	1.00
R9344:Ncapg2	UTSW	12	116,388,273 (GRCm39)	missense	probably damaging	1.00
R9444:Ncapg2	UTSW	12	116,370,863 (GRCm39)	missense	probably damaging	1.00
R9580:Ncapg2	UTSW	12	116,424,228 (GRCm39)	missense	probably damaging	1.00
R9634:Ncapg2	UTSW	12	116,379,077 (GRCm39)	missense	probably damaging	0.99
R9749:Ncapg2	UTSW	12	116,411,368 (GRCm39)	nonsense	probably null
X0020:Ncapg2	UTSW	12	116,388,327 (GRCm39)	missense	probably damaging	1.00
Z1177:Ncapg2	UTSW	12	116,402,225 (GRCm39)	missense	probably damaging	0.99

Posted On

2016-08-02