Mutagenetix > Incidental Mutation

Incidental Mutation 'R7463:Ncapg'

605551

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.950) question?

Stock #

R7463 (G1)

Quality Score

92.0077

Status

Validated

Chromosome

Chromosomal Location

45669919-45700546 bp(+) (GRCm38)

Type of Mutation

splice site (166 bp from exon)

DNA Base Change (assembly)

T to A at 45694092 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000112871 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045586] [ENSMUST00000117396] [ENSMUST00000190036]

AlphaFold

E9PWG6

Predicted Effect

probably benign
Transcript: ENSMUST00000045586

SMART Domains

Protein: ENSMUSP00000042677
Gene: ENSMUSG00000015882

Domain	Start	End	E-Value	Type
low complexity region	234	253	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000117396

SMART Domains

Protein: ENSMUSP00000112871
Gene: ENSMUSG00000015880

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

Predicted Effect

probably benign
Transcript: ENSMUST00000190036

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.7%

Validation Efficiency

100% (62/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	T	17: 46,323,772	V435E	probably damaging	Het
Acta2	G	A	19: 34,252,531	T8I	probably benign	Het
Adcy2	T	C	13: 68,730,280	D413G	probably damaging	Het
Adgrg6	T	A	10: 14,434,396	D727V	possibly damaging	Het
Aebp2	C	T	6: 140,637,726	Q309*	probably null	Het
Amy1	A	T	3: 113,569,884	C43*	probably null	Het
Bpifc	T	C	10: 85,979,334	E256G	probably benign	Het
Bysl	A	T	17: 47,602,471	S296T	probably benign	Het
Carmil3	C	T	14: 55,502,396	P980L	probably damaging	Het
Coch	T	A	12: 51,593,625	M1K	probably null	Het
Cpt2	A	T	4: 107,908,157	F137I	probably damaging	Het
Crem	T	C	18: 3,295,094	I112V	probably benign	Het
Cul9	A	G	17: 46,520,476		probably null	Het
Cyp3a41a	T	A	5: 145,713,564	I90F	probably damaging	Het
Cyp4f16	C	T	17: 32,550,787	A457V	possibly damaging	Het
Ddx6	A	G	9: 44,628,729	E318G	probably damaging	Het
Dip2b	A	G	15: 100,154,157	E213G	probably benign	Het
Dlx5	T	C	6: 6,878,316	H238R	probably damaging	Het
Dnaic2	A	C	11: 114,754,406	I556L	probably benign	Het
Dnmt1	C	T	9: 20,912,225	V1147M	possibly damaging	Het
Egf	G	T	3: 129,740,015	Q59K	probably benign	Het
Ermp1	A	T	19: 29,646,262	Y109*	probably null	Het
Fer1l6	T	A	15: 58,573,601	Y573*	probably null	Het
Fmnl1	T	C	11: 103,193,128	L503P	probably damaging	Het
Gnptab	T	G	10: 88,431,389	I447M	probably damaging	Het
Hgf	G	A	5: 16,578,450	D253N	probably benign	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,266,277		probably benign	Het
Igf2r	T	C	17: 12,710,645	T958A	probably benign	Het
Kcnd2	T	A	6: 21,216,498	L67Q	probably damaging	Het
Kif5a	A	G	10: 127,243,724	V248A	probably damaging	Het
Krt33b	A	G	11: 100,029,563	I88T	probably damaging	Het
Lhx2	G	A	2: 38,351,846	E25K	possibly damaging	Het
Mex3d	C	T	10: 80,381,698	G562R		Het
Myom2	A	T	8: 15,117,679	Y1088F	probably null	Het
Nudc	A	C	4: 133,534,403	V190G	possibly damaging	Het
Obscn	G	T	11: 59,122,860	R1054S	probably benign	Het
Olfr1045	T	C	2: 86,197,838	M305V	probably benign	Het
Olfr1510	A	G	14: 52,410,711	W54R	probably benign	Het
Olfr651	T	C	7: 104,553,482	S188P	possibly damaging	Het
Olfr683	T	A	7: 105,143,937	M119L	probably benign	Het
Olfr710	A	T	7: 106,944,173	V276E	probably damaging	Het
Olfr979	A	G	9: 40,000,564	V221A	probably benign	Het
Pcdh10	A	T	3: 45,383,572	R891S	possibly damaging	Het
Pcdh15	C	T	10: 74,631,770	S1873L	possibly damaging	Het
Pcdh7	A	G	5: 57,720,998	K632E	probably benign	Het
Pcdhgb8	G	A	18: 37,763,427	A517T	probably damaging	Het
Ptgr2	A	T	12: 84,292,298		probably benign	Het
Ptpn18	G	A	1: 34,473,364	D417N	possibly damaging	Het
Racgap1	T	A	15: 99,642,958	T4S	probably benign	Het
Rb1cc1	A	G	1: 6,249,180	H941R	probably benign	Het
Reln	T	C	5: 22,103,435	H312R	probably damaging	Het
Rnf166	T	A	8: 122,467,987	H208L	probably damaging	Het
Theg	T	C	10: 79,576,715	E314G	probably damaging	Het
Timeless	T	C	10: 128,250,426	S999P	probably benign	Het
Tmem94	G	T	11: 115,786,256	R118L	possibly damaging	Het
Tor1aip1	A	T	1: 156,007,609	H349Q	possibly damaging	Het
Ttn	T	A	2: 76,920,460	E3415V	probably benign	Het
Vmn2r102	A	T	17: 19,676,624	N78Y	probably damaging	Het
Wdr11	A	T	7: 129,607,086	D427V	probably damaging	Het
Zer1	A	T	2: 30,113,437		probably benign	Het
Zfp516	T	A	18: 82,957,108	M477K	probably benign	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
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
R8022:Ncapg	UTSW	5	45681794	missense	probably damaging	1.00
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'- GCTGAAGTAGATGTCACAAATGTTG -3'
(R):5'- GCAAGCCAACATTTGCAGACG -3'

Sequencing Primer
(F):5'- TCCTAAGGCAAAGAATTCTCAGG -3'
(R):5'- CTCACTAAGTGGGGAGAA -3'

Posted On

2019-12-13