Mutagenetix > Incidental Mutation

Incidental Mutation 'R4558:Ncapg'

342941

Institutional Source

Beutler Lab

Gene Symbol

Ncapg

Ensembl Gene

ENSMUSG00000015880

Gene Name

non-SMC condensin I complex, subunit G

Synonyms

MFT.M05.13, Hcapg, 5730507H05Rik

MMRRC Submission

042005-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.955) question?

Stock #

R4558 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45827261-45857888 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45833986 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 341 (T341S)

Ref Sequence

ENSEMBL: ENSMUSP00000112871 (fasta)

Gene Model

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

AlphaFold

E9PWG6

Predicted Effect

probably benign
Transcript: ENSMUST00000117396
AA Change: T341S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000112871
Gene: ENSMUSG00000015880
AA Change: T341S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129562

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134309

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198274

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

100% (36/36)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017G19Rik	A	G	3: 40,567,240 (GRCm39)		noncoding transcript	Het
A830018L16Rik	C	A	1: 12,042,300 (GRCm39)	S440*	probably null	Het
Acot11	T	C	4: 106,605,563 (GRCm39)	N583S	probably damaging	Het
Alox12	T	G	11: 70,143,889 (GRCm39)	M164L	probably benign	Het
Atad2b	A	G	12: 4,993,223 (GRCm39)	I247M	probably benign	Het
Bmpr2	T	A	1: 59,884,851 (GRCm39)	M279K	probably damaging	Het
Cacna2d3	T	C	14: 28,825,670 (GRCm39)	T502A	possibly damaging	Het
Casp12	A	T	9: 5,352,742 (GRCm39)	Y188F	probably damaging	Het
Catsperb	A	G	12: 101,557,799 (GRCm39)	Y790C	possibly damaging	Het
Cnbd1	G	T	4: 19,055,095 (GRCm39)	N110K	possibly damaging	Het
Entrep1	G	A	19: 24,007,913 (GRCm39)	S130L	probably damaging	Het
Fam227b	C	T	2: 125,968,963 (GRCm39)	S37N	probably benign	Het
Fsip2	T	C	2: 82,815,297 (GRCm39)	S3677P	possibly damaging	Het
Gm10764	A	G	10: 87,126,682 (GRCm39)		noncoding transcript	Het
H2-Q6	T	C	17: 35,647,291 (GRCm39)	V312A	probably benign	Het
Hecw1	T	A	13: 14,422,190 (GRCm39)	D972V	probably damaging	Het
Kalrn	G	A	16: 33,807,578 (GRCm39)	T2597I	possibly damaging	Het
Kng1	C	A	16: 22,896,168 (GRCm39)		probably null	Het
Med13	T	C	11: 86,189,880 (GRCm39)	T1010A	probably damaging	Het
Nbeal1	C	T	1: 60,320,469 (GRCm39)	R2021*	probably null	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Pabir2	G	A	X: 52,349,554 (GRCm39)		probably benign	Het
Pcdhb4	A	G	18: 37,443,017 (GRCm39)	I776V	probably benign	Het
Ppp4r4	T	C	12: 103,573,192 (GRCm39)	V697A	probably benign	Het
Pramel13	T	C	4: 144,122,542 (GRCm39)	M1V	probably null	Het
Psd4	G	A	2: 24,294,806 (GRCm39)	V789M	probably damaging	Het
Rasa3	T	C	8: 13,648,259 (GRCm39)	E135G	probably damaging	Het
Serpinb9c	T	A	13: 33,338,482 (GRCm39)	E139V	probably benign	Het
Sgsm1	G	A	5: 113,405,977 (GRCm39)		probably benign	Het
Tmem161b	A	G	13: 84,399,363 (GRCm39)	I6M	possibly damaging	Het
Upf2	A	G	2: 5,978,404 (GRCm39)	M423V	unknown	Het
Vmn1r207	A	G	13: 22,910,581 (GRCm39)		noncoding transcript	Het

Other mutations in Ncapg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00662:Ncapg	APN	5	45,850,502 (GRCm39)	missense	possibly damaging	0.53
IGL00777:Ncapg	APN	5	45,853,107 (GRCm39)	missense	possibly damaging	0.93
IGL00857:Ncapg	APN	5	45,833,927 (GRCm39)	splice site	probably null
IGL00916:Ncapg	APN	5	45,828,534 (GRCm39)	missense	probably benign	0.37
IGL01293:Ncapg	APN	5	45,839,196 (GRCm39)	missense	probably benign	0.01
IGL01360:Ncapg	APN	5	45,831,727 (GRCm39)	nonsense	probably null
IGL01462:Ncapg	APN	5	45,828,477 (GRCm39)	missense	probably benign	0.02
IGL01527:Ncapg	APN	5	45,829,726 (GRCm39)	missense	possibly damaging	0.71
IGL01732:Ncapg	APN	5	45,851,195 (GRCm39)	missense	probably damaging	1.00
IGL01788:Ncapg	APN	5	45,828,423 (GRCm39)	missense	probably damaging	0.97
IGL01871:Ncapg	APN	5	45,845,923 (GRCm39)	missense	probably benign	0.09
IGL03106:Ncapg	APN	5	45,853,010 (GRCm39)	missense	probably damaging	1.00
IGL03124:Ncapg	APN	5	45,828,551 (GRCm39)	missense	probably benign
R0086:Ncapg	UTSW	5	45,834,086 (GRCm39)	splice site	probably null
R0109:Ncapg	UTSW	5	45,851,090 (GRCm39)	splice site	probably null
R0110:Ncapg	UTSW	5	45,850,489 (GRCm39)	unclassified	probably benign
R0377:Ncapg	UTSW	5	45,851,159 (GRCm39)	missense	probably benign
R0432:Ncapg	UTSW	5	45,829,770 (GRCm39)	missense	probably damaging	0.99
R0637:Ncapg	UTSW	5	45,844,666 (GRCm39)	missense	probably damaging	1.00
R0835:Ncapg	UTSW	5	45,838,790 (GRCm39)	missense	probably damaging	0.96
R0894:Ncapg	UTSW	5	45,837,236 (GRCm39)	missense	probably null	0.24
R1069:Ncapg	UTSW	5	45,833,272 (GRCm39)	intron	probably benign
R1216:Ncapg	UTSW	5	45,857,261 (GRCm39)	missense	possibly damaging	0.68
R1967:Ncapg	UTSW	5	45,857,252 (GRCm39)	missense	probably damaging	0.99
R2396:Ncapg	UTSW	5	45,835,715 (GRCm39)	missense	probably benign	0.00
R3157:Ncapg	UTSW	5	45,833,400 (GRCm39)	missense	probably benign
R3735:Ncapg	UTSW	5	45,853,469 (GRCm39)	missense	probably benign	0.00
R3736:Ncapg	UTSW	5	45,853,469 (GRCm39)	missense	probably benign	0.00
R3887:Ncapg	UTSW	5	45,831,705 (GRCm39)	missense	probably benign
R4371:Ncapg	UTSW	5	45,835,797 (GRCm39)	missense	probably benign
R4545:Ncapg	UTSW	5	45,828,554 (GRCm39)	missense	probably damaging	1.00
R4546:Ncapg	UTSW	5	45,828,554 (GRCm39)	missense	probably damaging	1.00
R4615:Ncapg	UTSW	5	45,844,741 (GRCm39)	missense	probably benign	0.00
R4938:Ncapg	UTSW	5	45,828,551 (GRCm39)	missense	probably benign
R5839:Ncapg	UTSW	5	45,829,620 (GRCm39)	missense	probably damaging	0.99
R5871:Ncapg	UTSW	5	45,853,039 (GRCm39)	missense	probably damaging	1.00
R6086:Ncapg	UTSW	5	45,850,578 (GRCm39)	missense	probably damaging	1.00
R6418:Ncapg	UTSW	5	45,839,158 (GRCm39)	missense	probably damaging	1.00
R6617:Ncapg	UTSW	5	45,827,474 (GRCm39)	missense	probably benign	0.03
R7145:Ncapg	UTSW	5	45,827,372 (GRCm39)	missense	possibly damaging	0.82
R7408:Ncapg	UTSW	5	45,853,135 (GRCm39)	missense	probably benign	0.00
R7443:Ncapg	UTSW	5	45,829,652 (GRCm39)	missense	probably benign	0.31
R7463:Ncapg	UTSW	5	45,851,434 (GRCm39)	splice site	probably null
R7509:Ncapg	UTSW	5	45,853,450 (GRCm39)	missense	probably benign	0.01
R7687:Ncapg	UTSW	5	45,857,227 (GRCm39)	missense	probably benign	0.03
R7919:Ncapg	UTSW	5	45,853,390 (GRCm39)	missense	probably benign	0.00
R8022:Ncapg	UTSW	5	45,839,136 (GRCm39)	missense	probably damaging	1.00
R8177:Ncapg	UTSW	5	45,851,095 (GRCm39)	missense	probably benign	0.00
R8261:Ncapg	UTSW	5	45,844,730 (GRCm39)	missense	possibly damaging	0.90
R8263:Ncapg	UTSW	5	45,849,134 (GRCm39)	missense	probably benign	0.44
R8324:Ncapg	UTSW	5	45,853,010 (GRCm39)	missense	probably damaging	1.00
R8333:Ncapg	UTSW	5	45,831,805 (GRCm39)	missense	probably damaging	0.96
R8742:Ncapg	UTSW	5	45,851,216 (GRCm39)	missense	probably damaging	1.00
R9026:Ncapg	UTSW	5	45,853,115 (GRCm39)	missense	probably benign	0.00
R9051:Ncapg	UTSW	5	45,853,140 (GRCm39)	missense	probably damaging	1.00
R9076:Ncapg	UTSW	5	45,833,983 (GRCm39)	missense	probably benign
R9122:Ncapg	UTSW	5	45,846,015 (GRCm39)	missense	possibly damaging	0.95
R9751:Ncapg	UTSW	5	45,851,195 (GRCm39)	missense	probably damaging	1.00
R9776:Ncapg	UTSW	5	45,829,834 (GRCm39)	missense	probably damaging	0.96
RF019:Ncapg	UTSW	5	45,856,198 (GRCm39)	missense	probably benign	0.00
Z1088:Ncapg	UTSW	5	45,837,222 (GRCm39)	missense	probably damaging	1.00
Z1177:Ncapg	UTSW	5	45,829,844 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CCATGTTGACTCATCTGAAGCTTTC -3'
(R):5'- TCTCATGACTTTGATGAAGACGAC -3'

Sequencing Primer
(F):5'- TGGGTGGGGAAATTAATGACTTAG -3'
(R):5'- TTGATGAAGACGACTATGAAATTGG -3'

Posted On

2015-09-24