Mutagenetix > Incidental Mutation

Incidental Mutation 'R4761:Ncaph'

356866

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

042402-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4761 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

126945729-126975857 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126948036 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 683 (D683G)

Ref Sequence

ENSEMBL: ENSMUSP00000106017 (fasta)

Gene Model

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

AlphaFold

Q8C156

Predicted Effect

probably benign
Transcript: ENSMUST00000110387
AA Change: D683G

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000106017
Gene: ENSMUSG00000034906
AA Change: D683G

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

Meta Mutation Damage Score

0.3499

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

100% (69/69)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9630041A04Rik	A	G	9: 101,820,165 (GRCm39)	D195G	possibly damaging	Het
Abcc8	G	A	7: 45,762,499 (GRCm39)	R1221C	probably damaging	Het
Adra1a	T	A	14: 66,964,880 (GRCm39)		probably null	Het
Akr1c6	A	T	13: 4,497,010 (GRCm39)	M98L	probably benign	Het
Alpk3	A	G	7: 80,753,916 (GRCm39)	Q1632R	probably damaging	Het
Arhgap24	G	T	5: 102,812,080 (GRCm39)		probably benign	Het
Atp8b5	A	G	4: 43,308,504 (GRCm39)	*40W	probably null	Het
Bdkrb2	A	T	12: 105,554,537 (GRCm39)	M17L	probably benign	Het
C4bp	T	C	1: 130,581,158 (GRCm39)	K117R	possibly damaging	Het
Cacng3	A	T	7: 122,367,887 (GRCm39)	T256S	probably benign	Het
Cep63	T	C	9: 102,464,240 (GRCm39)		probably benign	Het
Ces2b	T	A	8: 105,563,193 (GRCm39)		probably null	Het
Col12a1	T	A	9: 79,564,592 (GRCm39)	D1696V	probably benign	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dcst1	A	T	3: 89,264,860 (GRCm39)	M296K	possibly damaging	Het
Ehbp1l1	G	A	19: 5,769,875 (GRCm39)	P476L	possibly damaging	Het
Enpp1	A	G	10: 24,517,849 (GRCm39)	V858A	possibly damaging	Het
Ermp1	T	A	19: 29,623,656 (GRCm39)	E55D	probably benign	Het
Eya1	G	A	1: 14,373,045 (GRCm39)	L25F	probably damaging	Het
Foxn2	T	A	17: 88,770,136 (GRCm39)		probably null	Het
Gabrb3	A	T	7: 57,415,250 (GRCm39)	T107S	probably damaging	Het
Gm26678	A	T	3: 54,540,564 (GRCm39)		noncoding transcript	Het
Gm7897	G	T	1: 173,657,536 (GRCm39)		noncoding transcript	Het
Gm9789	A	T	16: 88,954,915 (GRCm39)	Y8F	unknown	Het
Gsta3	A	T	1: 21,330,381 (GRCm39)	T78S	probably benign	Het
H2-Ab1	A	G	17: 34,486,474 (GRCm39)	N178D	probably damaging	Het
Herc6	G	A	6: 57,639,885 (GRCm39)	V1000I	probably benign	Het
Hrnr	A	C	3: 93,230,062 (GRCm39)	K100T	probably damaging	Het
Ift57	T	C	16: 49,522,263 (GRCm39)	F2L	probably damaging	Het
Iqca1l	A	G	5: 24,756,981 (GRCm39)	V232A	probably benign	Het
Kmt2a	C	A	9: 44,760,421 (GRCm39)	R509L	probably damaging	Het
Lefty1	T	A	1: 180,765,190 (GRCm39)	C253S	probably benign	Het
Lhx3	TCCTACGGGCCGGCCC	TCC	2: 26,091,435 (GRCm39)		probably null	Het
Mfsd9	T	C	1: 40,813,635 (GRCm39)	K227E	possibly damaging	Het
Mrps2	C	G	2: 28,359,946 (GRCm39)	H268D	probably benign	Het
Mrps27	T	A	13: 99,548,739 (GRCm39)	S292T	probably benign	Het
Nlrc3	A	T	16: 3,781,514 (GRCm39)	S632T	probably damaging	Het
Nsun6	T	C	2: 15,034,872 (GRCm39)	T198A	possibly damaging	Het
Oasl2	C	T	5: 115,037,836 (GRCm39)	H78Y	probably benign	Het
Or8b54	T	C	9: 38,687,133 (GRCm39)	V194A	probably benign	Het
Pcsk5	T	C	19: 17,814,512 (GRCm39)	D2G	possibly damaging	Het
Pdgfrb	C	A	18: 61,212,772 (GRCm39)	S892Y	probably damaging	Het
Phf8-ps	A	T	17: 33,286,172 (GRCm39)	V210D	probably damaging	Het
Por	T	G	5: 135,754,784 (GRCm39)		probably benign	Het
Ppp2r5e	A	T	12: 75,640,035 (GRCm39)	V22D	possibly damaging	Het
Prcp	A	G	7: 92,566,933 (GRCm39)		probably null	Het
Ptchd3	A	T	11: 121,727,224 (GRCm39)	N366I	possibly damaging	Het
Rprd1b	A	G	2: 157,889,890 (GRCm39)	E4G	probably damaging	Het
Semp2l1	A	T	1: 32,585,588 (GRCm39)	S107R	possibly damaging	Het
Serpinb6d	C	A	13: 33,855,250 (GRCm39)	S308Y	probably damaging	Het
Slc12a7	T	C	13: 73,961,708 (GRCm39)	V1026A	probably benign	Het
Slc17a7	G	A	7: 44,820,408 (GRCm39)	V313I	probably benign	Het
Slc35c1	T	A	2: 92,289,168 (GRCm39)	M113L	probably damaging	Het
Smgc	A	G	15: 91,729,717 (GRCm39)	T178A	possibly damaging	Het
Spef2	A	T	15: 9,653,040 (GRCm39)	W914R	probably damaging	Het
Srfbp1	C	A	18: 52,621,638 (GRCm39)	P233Q	probably damaging	Het
Swt1	A	C	1: 151,276,853 (GRCm39)	C508G	probably benign	Het
Tex22	T	C	12: 113,052,386 (GRCm39)	V148A	possibly damaging	Het
Tle7	A	T	8: 110,836,753 (GRCm39)	D213V	probably damaging	Het
Tpd52	G	A	3: 9,028,933 (GRCm39)	P37L	probably damaging	Het
Utp25	T	C	1: 192,796,230 (GRCm39)	Y145C	probably damaging	Het
Vmn1r197	A	T	13: 22,512,174 (GRCm39)	M32L	probably benign	Het
Vmn2r100	T	C	17: 19,741,630 (GRCm39)	F114S	possibly damaging	Het
Xdh	T	A	17: 74,217,262 (GRCm39)	I669F	possibly damaging	Het
Zfp940	G	A	7: 29,545,578 (GRCm39)	R110C	probably benign	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
R4957:Ncaph	UTSW	2	126,963,177 (GRCm39)	missense	possibly damaging	0.46
R5491:Ncaph	UTSW	2	126,965,595 (GRCm39)	missense	probably benign
R5942:Ncaph	UTSW	2	126,958,608 (GRCm39)	splice site	probably null
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'- AGAGGTTCTGAGCCATGAGC -3'
(R):5'- CTCCAGAGAATTTAACTTTGCTTCC -3'

Sequencing Primer
(F):5'- GGCAAGCACTGAGTAGGTC -3'
(R):5'- AGAGAATTTAACTTTGCTTCCTTCAG -3'

Posted On

2015-11-11