Mutagenetix > Incidental Mutation

Incidental Mutation 'R5942:Ncaph'

460328

Institutional Source

Beutler Lab

Gene Symbol

Ncaph

Ensembl Gene

ENSMUSG00000034906

Gene Name

non-SMC condensin I complex, subunit H

Synonyms

Brrn1, A730011O11Rik, HCAP-H

MMRRC Submission

044134-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5942 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

126945729-126975857 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 126958608 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000106017 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110387]

AlphaFold

Q8C156

Predicted Effect

probably null
Transcript: ENSMUST00000110387

SMART Domains

Protein: ENSMUSP00000106017
Gene: ENSMUSG00000034906

Domain	Start	End	E-Value	Type
Pfam:Cnd2	25	729	9e-160	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146142

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152806

Predicted Effect

probably benign
Transcript: ENSMUST00000175885

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177191

Coding Region Coverage

1x: 99.8%
3x: 99.3%
10x: 96.7%
20x: 89.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the barr gene family and a regulatory subunit of the condensin complex. This complex is required for the conversion of interphase chromatin into condensed chromosomes. The protein encoded by this gene is associated with mitotic chromosomes, except during the early phase of chromosome condensation. During interphase, the protein has a distinct punctate nucleolar localization. Alternatively spliced transcript variants encoding different proteins have been described. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous null mice die before E12.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	C	T	17: 46,623,333 (GRCm39)	V860M	probably benign	Het
Accs	A	T	2: 93,666,392 (GRCm39)	L432M	probably damaging	Het
Actrt3	T	A	3: 30,652,813 (GRCm39)	N94Y	possibly damaging	Het
Adamts18	T	C	8: 114,504,380 (GRCm39)	Q80R	probably benign	Het
Ccr8	G	T	9: 119,923,772 (GRCm39)	V296F	probably damaging	Het
Cep170	T	A	1: 176,583,985 (GRCm39)	E798V	probably damaging	Het
Cttnbp2	T	A	6: 18,448,439 (GRCm39)	E73D	probably damaging	Het
Cyp2a4	A	T	7: 26,010,129 (GRCm39)		probably null	Het
Dync2h1	A	T	9: 7,117,466 (GRCm39)	Y41*	probably null	Het
Enc1	G	A	13: 97,382,887 (GRCm39)	D466N	probably benign	Het
Enpp1	C	A	10: 24,551,966 (GRCm39)	E138*	probably null	Het
Entrep1	A	G	19: 23,963,834 (GRCm39)	V245A	probably damaging	Het
Ezh2	T	C	6: 47,554,516 (GRCm39)	R27G	possibly damaging	Het
Fut10	A	G	8: 31,691,485 (GRCm39)	N110S	possibly damaging	Het
Glt1d1	A	T	5: 127,721,534 (GRCm39)		probably null	Het
Gm14393	G	A	2: 174,903,689 (GRCm39)	Q73*	probably null	Het
Gpr156	C	T	16: 37,825,264 (GRCm39)	P494S	probably benign	Het
Has2	T	A	15: 56,531,192 (GRCm39)	K508*	probably null	Het
Hc	A	T	2: 34,918,137 (GRCm39)	C715*	probably null	Het
Hook2	C	T	8: 85,721,409 (GRCm39)		probably null	Het
Klhdc7b	A	C	15: 89,271,634 (GRCm39)	I839L	probably benign	Het
Kndc1	T	C	7: 139,516,792 (GRCm39)	L1584P	probably damaging	Het
Lamp1	T	C	8: 13,223,941 (GRCm39)	F358L	probably damaging	Het
Man2a1	A	G	17: 64,932,375 (GRCm39)	K154R	probably benign	Het
Mga	A	G	2: 119,777,440 (GRCm39)	I1871V	probably benign	Het
Mgmt	T	A	7: 136,723,219 (GRCm39)	D96E	probably benign	Het
Morc2a	C	A	11: 3,629,936 (GRCm39)	T424K	probably damaging	Het
Myo1g	A	G	11: 6,464,888 (GRCm39)	L462P	probably damaging	Het
Nlrc3	A	T	16: 3,767,293 (GRCm39)	D969E	probably damaging	Het
Nt5c3	A	T	6: 56,874,839 (GRCm39)		probably null	Het
Or4c12b	G	T	2: 89,646,684 (GRCm39)	E5*	probably null	Het
Or5ac15	A	T	16: 58,940,039 (GRCm39)	Y131*	probably null	Het
Or5d41	A	C	2: 88,054,916 (GRCm39)	I153M	probably benign	Het
Or8h8	T	C	2: 86,753,750 (GRCm39)	N42S	probably damaging	Het
Parp14	C	A	16: 35,659,737 (GRCm39)	M1628I	probably damaging	Het
Parp8	G	T	13: 117,005,969 (GRCm39)	P693Q	probably benign	Het
Parp9	A	G	16: 35,792,259 (GRCm39)	D485G	possibly damaging	Het
Pcdha1	T	A	18: 37,063,444 (GRCm39)	V36D	probably damaging	Het
Pcdhb5	C	T	18: 37,453,838 (GRCm39)	Q73*	probably null	Het
Pecam1	G	T	11: 106,552,809 (GRCm39)		probably benign	Het
Pex1	A	G	5: 3,660,277 (GRCm39)	I527V	probably benign	Het
Phf11	G	A	14: 59,497,593 (GRCm39)	P13S	probably benign	Het
Ppp4r4	T	A	12: 103,553,706 (GRCm39)	V388D	possibly damaging	Het
Psmc4	C	T	7: 27,746,480 (GRCm39)	V202I	probably damaging	Het
Ptx3	T	G	3: 66,127,484 (GRCm39)	M1R	probably null	Het
Rimbp3	A	G	16: 17,029,752 (GRCm39)	T1059A	probably benign	Het
Rmdn3	G	A	2: 118,978,058 (GRCm39)	A181V	probably damaging	Het
Rnase10	A	T	14: 51,246,735 (GRCm39)	M38L	probably benign	Het
Sec16b	T	A	1: 157,358,920 (GRCm39)	Y118N	probably damaging	Het
Sigmar1	T	C	4: 41,741,159 (GRCm39)	T32A	probably benign	Het
Srcap	A	G	7: 127,137,180 (GRCm39)	D954G	probably damaging	Het
Tfrc	A	G	16: 32,445,533 (GRCm39)	N618S	possibly damaging	Het
Tnrc6a	A	G	7: 122,785,888 (GRCm39)	D1028G	probably damaging	Het
Tns3	A	T	11: 8,385,860 (GRCm39)	D1379E	probably damaging	Het
Ttn	A	T	2: 76,580,505 (GRCm39)	C23463S	possibly damaging	Het
Ufl1	T	C	4: 25,250,619 (GRCm39)	T745A	probably benign	Het
Vmn1r231	T	A	17: 21,110,417 (GRCm39)	Y166F	possibly damaging	Het
Wbp1l	C	A	19: 46,642,869 (GRCm39)	T290K	probably damaging	Het
Wdr25	A	G	12: 108,864,392 (GRCm39)	N179S	probably benign	Het
Wdr62	G	A	7: 29,942,504 (GRCm39)	Q1035*	probably null	Het
Yif1a	C	T	19: 5,141,669 (GRCm39)	R196C	probably damaging	Het
Zfp352	A	T	4: 90,113,307 (GRCm39)	K482N	probably damaging	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het

Other mutations in Ncaph

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02556:Ncaph	APN	2	126,968,025 (GRCm39)	splice site	probably benign
IGL02619:Ncaph	APN	2	126,969,456 (GRCm39)	missense	probably damaging	0.99
IGL02674:Ncaph	APN	2	126,955,496 (GRCm39)	missense	probably damaging	0.98
IGL02679:Ncaph	APN	2	126,966,784 (GRCm39)	missense	possibly damaging	0.95
R2060:Ncaph	UTSW	2	126,966,795 (GRCm39)	missense	probably damaging	1.00
R3508:Ncaph	UTSW	2	126,969,113 (GRCm39)	missense	probably benign	0.33
R4283:Ncaph	UTSW	2	126,963,005 (GRCm39)	intron	probably benign
R4761:Ncaph	UTSW	2	126,948,036 (GRCm39)	missense	probably benign	0.07
R4957:Ncaph	UTSW	2	126,963,177 (GRCm39)	missense	possibly damaging	0.46
R5491:Ncaph	UTSW	2	126,965,595 (GRCm39)	missense	probably benign
R6523:Ncaph	UTSW	2	126,947,809 (GRCm39)	missense	probably damaging	0.97
R7177:Ncaph	UTSW	2	126,958,506 (GRCm39)	missense	probably damaging	1.00
R7188:Ncaph	UTSW	2	126,964,034 (GRCm39)	missense	probably benign	0.09
R7467:Ncaph	UTSW	2	126,975,795 (GRCm39)	unclassified	probably benign
R7857:Ncaph	UTSW	2	126,946,165 (GRCm39)	missense	probably damaging	0.99
R8699:Ncaph	UTSW	2	126,963,096 (GRCm39)	missense	possibly damaging	0.83
R8701:Ncaph	UTSW	2	126,948,058 (GRCm39)	missense	probably benign	0.13
R8843:Ncaph	UTSW	2	126,950,529 (GRCm39)	missense	probably benign
R9090:Ncaph	UTSW	2	126,958,554 (GRCm39)	missense	probably damaging	0.99
R9271:Ncaph	UTSW	2	126,958,554 (GRCm39)	missense	probably damaging	0.99
X0021:Ncaph	UTSW	2	126,969,058 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGGCACCATCTTACCCTTTTG -3'
(R):5'- ACAAAGTCAGTGGCAGGGTC -3'

Sequencing Primer
(F):5'- ACCCTTTTGCCTGGTTTGAG -3'
(R):5'- TTTAGATAGGGTAGCACCATGTAGCC -3'

Posted On

2017-02-28