Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03173:Cntrob'

411911

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cntrob

Ensembl Gene

ENSMUSG00000032782

Gene Name

centrobin, centrosomal BRCA2 interacting protein

Synonyms

Nip2, 9830165K03Rik, Lip8

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.175) question?

Stock #

IGL03173

Quality Score

Status

Chromosome

Chromosomal Location

69190313-69214601 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 69200853 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 503 (A503T)

Ref Sequence

ENSEMBL: ENSMUSP00000090651 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092973] [ENSMUST00000123176]

AlphaFold

Q8CB62

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092973
AA Change: A503T

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000090651
Gene: ENSMUSG00000032782
AA Change: A503T

Domain	Start	End	E-Value	Type
coiled coil region	191	218	N/A	INTRINSIC
coiled coil region	249	557	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123176

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125777

Predicted Effect

probably benign
Transcript: ENSMUST00000135979

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148490

Predicted Effect

probably benign
Transcript: ENSMUST00000176938

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 centrosomal protein that interacts with BRCA2, and is required for centriole duplication and cytokinesis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atg2b	T	C	12: 105,624,553 (GRCm39)	K649E	possibly damaging	Het
Cnnm4	A	G	1: 36,512,173 (GRCm39)		probably benign	Het
D3Ertd751e	T	A	3: 41,710,497 (GRCm39)	Y170N	probably damaging	Het
Ddx23	T	C	15: 98,548,885 (GRCm39)	I306V	probably benign	Het
Ep400	A	G	5: 110,856,737 (GRCm39)		probably benign	Het
Gmps	T	C	3: 63,897,750 (GRCm39)	V234A	probably damaging	Het
Hivep2	G	T	10: 14,003,726 (GRCm39)	G108V	possibly damaging	Het
Irgc	T	C	7: 24,132,727 (GRCm39)	E30G	probably damaging	Het
Krt75	T	C	15: 101,481,162 (GRCm39)	Y204C	probably damaging	Het
Ms4a14	G	A	19: 11,281,560 (GRCm39)	L333F	possibly damaging	Het
Or51l4	A	G	7: 103,404,183 (GRCm39)	V203A	probably benign	Het
Or5an6	T	A	19: 12,372,410 (GRCm39)	M261K	possibly damaging	Het
Or8k27	A	T	2: 86,275,788 (GRCm39)	C179*	probably null	Het
Pitpnm3	G	A	11: 71,983,389 (GRCm39)	T80I	probably benign	Het
Pou2f2	T	C	7: 24,799,371 (GRCm39)		probably benign	Het
Slc34a1	T	C	13: 55,561,089 (GRCm39)	L518P	probably damaging	Het
Sorbs1	T	A	19: 40,351,706 (GRCm39)	T235S	probably damaging	Het
Ssxa1	C	T	X: 20,985,224 (GRCm39)	R41C	probably benign	Het
Syt2	A	G	1: 134,671,317 (GRCm39)	N142D	possibly damaging	Het
Taf3	A	G	2: 9,957,738 (GRCm39)	V143A	probably damaging	Het
Trav13-5	T	C	14: 54,033,534 (GRCm39)		probably benign	Het
Tti1	A	G	2: 157,848,932 (GRCm39)		probably benign	Het
Vmn2r13	T	C	5: 109,319,645 (GRCm39)	E445G	possibly damaging	Het
Zfp663	G	T	2: 165,194,419 (GRCm39)	T600K	probably damaging	Het
Zfp750	G	A	11: 121,404,651 (GRCm39)	Q75*	probably null	Het

Other mutations in Cntrob

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02975:Cntrob	APN	11	69,210,199 (GRCm39)	missense	possibly damaging	0.66
groats	UTSW	11	69,200,317 (GRCm39)	nonsense	probably null
BB005:Cntrob	UTSW	11	69,191,121 (GRCm39)	missense	probably damaging	0.97
BB015:Cntrob	UTSW	11	69,191,121 (GRCm39)	missense	probably damaging	0.97
R0270:Cntrob	UTSW	11	69,202,167 (GRCm39)	missense	possibly damaging	0.66
R0501:Cntrob	UTSW	11	69,213,694 (GRCm39)	missense	probably damaging	1.00
R1749:Cntrob	UTSW	11	69,213,700 (GRCm39)	missense	probably damaging	0.99
R1775:Cntrob	UTSW	11	69,211,693 (GRCm39)	missense	possibly damaging	0.90
R1900:Cntrob	UTSW	11	69,198,880 (GRCm39)	missense	probably benign	0.27
R1967:Cntrob	UTSW	11	69,211,789 (GRCm39)	missense	probably damaging	0.97
R2495:Cntrob	UTSW	11	69,213,749 (GRCm39)	missense	probably damaging	0.96
R3121:Cntrob	UTSW	11	69,213,526 (GRCm39)	nonsense	probably null
R3780:Cntrob	UTSW	11	69,193,708 (GRCm39)	missense	probably damaging	0.97
R4449:Cntrob	UTSW	11	69,196,375 (GRCm39)	missense	probably benign	0.29
R4696:Cntrob	UTSW	11	69,211,714 (GRCm39)	missense	probably damaging	1.00
R4841:Cntrob	UTSW	11	69,206,220 (GRCm39)	missense	possibly damaging	0.92
R4842:Cntrob	UTSW	11	69,206,220 (GRCm39)	missense	possibly damaging	0.92
R4908:Cntrob	UTSW	11	69,211,732 (GRCm39)	missense	probably damaging	0.97
R4982:Cntrob	UTSW	11	69,202,188 (GRCm39)	splice site	probably null
R5168:Cntrob	UTSW	11	69,190,816 (GRCm39)	missense	possibly damaging	0.66
R5187:Cntrob	UTSW	11	69,212,717 (GRCm39)	missense	possibly damaging	0.62
R5307:Cntrob	UTSW	11	69,205,576 (GRCm39)	missense	possibly damaging	0.66
R5473:Cntrob	UTSW	11	69,213,579 (GRCm39)	missense	possibly damaging	0.81
R5903:Cntrob	UTSW	11	69,200,201 (GRCm39)	missense	possibly damaging	0.83
R6643:Cntrob	UTSW	11	69,202,248 (GRCm39)	missense	possibly damaging	0.46
R6742:Cntrob	UTSW	11	69,213,749 (GRCm39)	missense	probably damaging	0.96
R6964:Cntrob	UTSW	11	69,200,317 (GRCm39)	nonsense	probably null
R7020:Cntrob	UTSW	11	69,193,918 (GRCm39)	critical splice donor site	probably null
R7425:Cntrob	UTSW	11	69,205,560 (GRCm39)	nonsense	probably null
R7928:Cntrob	UTSW	11	69,191,121 (GRCm39)	missense	probably damaging	0.97
R7946:Cntrob	UTSW	11	69,206,047 (GRCm39)	missense	possibly damaging	0.82
R8348:Cntrob	UTSW	11	69,190,679 (GRCm39)	missense	unknown
R8448:Cntrob	UTSW	11	69,190,679 (GRCm39)	missense	unknown
R8539:Cntrob	UTSW	11	69,211,652 (GRCm39)	missense	possibly damaging	0.94
R9259:Cntrob	UTSW	11	69,211,665 (GRCm39)	missense	possibly damaging	0.81
R9415:Cntrob	UTSW	11	69,193,741 (GRCm39)	missense	possibly damaging	0.66
R9553:Cntrob	UTSW	11	69,205,679 (GRCm39)	missense	probably benign	0.00
R9626:Cntrob	UTSW	11	69,202,167 (GRCm39)	missense	possibly damaging	0.66
R9628:Cntrob	UTSW	11	69,213,782 (GRCm39)	missense	possibly damaging	0.66
R9801:Cntrob	UTSW	11	69,212,233 (GRCm39)	missense	possibly damaging	0.82
Z1177:Cntrob	UTSW	11	69,202,275 (GRCm39)	missense	possibly damaging	0.66
Z1186:Cntrob	UTSW	11	69,198,882 (GRCm39)	missense	probably benign	0.23
Z1186:Cntrob	UTSW	11	69,196,404 (GRCm39)	missense	probably benign
Z1187:Cntrob	UTSW	11	69,198,882 (GRCm39)	missense	probably benign	0.23
Z1187:Cntrob	UTSW	11	69,196,404 (GRCm39)	missense	probably benign
Z1188:Cntrob	UTSW	11	69,198,882 (GRCm39)	missense	probably benign	0.23
Z1188:Cntrob	UTSW	11	69,196,404 (GRCm39)	missense	probably benign
Z1189:Cntrob	UTSW	11	69,198,882 (GRCm39)	missense	probably benign	0.23
Z1189:Cntrob	UTSW	11	69,196,404 (GRCm39)	missense	probably benign
Z1190:Cntrob	UTSW	11	69,198,882 (GRCm39)	missense	probably benign	0.23
Z1190:Cntrob	UTSW	11	69,196,404 (GRCm39)	missense	probably benign
Z1191:Cntrob	UTSW	11	69,198,882 (GRCm39)	missense	probably benign	0.23
Z1191:Cntrob	UTSW	11	69,196,404 (GRCm39)	missense	probably benign
Z1192:Cntrob	UTSW	11	69,198,882 (GRCm39)	missense	probably benign	0.23
Z1192:Cntrob	UTSW	11	69,196,404 (GRCm39)	missense	probably benign

Posted On

2016-08-02