Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02250:Ccdc90b'

286369

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc90b

Ensembl Gene

ENSMUSG00000030613

Gene Name

coiled-coil domain containing 90B

Synonyms

2310015N07Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

IGL02250

Quality Score

Status

Chromosome

Chromosomal Location

92210357-92231502 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 92223823 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000082090 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032842] [ENSMUST00000085017]

AlphaFold

Q8C3X2

Predicted Effect

probably benign
Transcript: ENSMUST00000032842

SMART Domains

Protein: ENSMUSP00000032842
Gene: ENSMUSG00000030613

Domain	Start	End	E-Value	Type
Pfam:DUF1640	61	253	1.6e-62	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000085017

SMART Domains

Protein: ENSMUSP00000082090
Gene: ENSMUSG00000030613

Domain	Start	End	E-Value	Type
Pfam:DUF1640	60	109	1.6e-16	PFAM
Pfam:DUF1640	105	220	1.1e-39	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp7	T	A	7: 28,329,135 (GRCm39)		probably benign	Het
Antxr2	A	C	5: 98,125,454 (GRCm39)		probably null	Het
Areg	T	A	5: 91,288,967 (GRCm39)	I91K	possibly damaging	Het
Arf1	G	A	11: 59,103,993 (GRCm39)	R79C	probably benign	Het
Bbs2	A	T	8: 94,819,054 (GRCm39)	I105N	probably benign	Het
Ccdc158	A	T	5: 92,756,337 (GRCm39)	I1090N	probably damaging	Het
Cep57	A	T	9: 13,721,939 (GRCm39)	F221I	probably damaging	Het
Ckap5	C	T	2: 91,379,246 (GRCm39)	A62V	probably damaging	Het
Cntn5	G	A	9: 10,145,336 (GRCm39)	R125C	probably damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cxxc1	T	A	18: 74,352,240 (GRCm39)	D321E	probably benign	Het
Ddr1	G	A	17: 35,994,372 (GRCm39)	A801V	probably damaging	Het
Dnm1l	A	G	16: 16,139,550 (GRCm39)		probably benign	Het
Eif2d	T	A	1: 131,088,166 (GRCm39)	S184T	probably benign	Het
Emcn	T	A	3: 137,124,747 (GRCm39)		probably benign	Het
Fry	A	T	5: 150,326,899 (GRCm39)		probably benign	Het
Gas2	T	A	7: 51,537,786 (GRCm39)	M37K	probably damaging	Het
Habp2	A	G	19: 56,297,361 (GRCm39)	S100G	probably benign	Het
Kcnj5	A	G	9: 32,229,052 (GRCm39)	C49R	probably damaging	Het
Lhx2	T	A	2: 38,244,845 (GRCm39)	D236E	probably benign	Het
Megf8	T	A	7: 25,042,000 (GRCm39)	S1273T	probably benign	Het
Mrps2	T	C	2: 28,359,557 (GRCm39)	I138T	possibly damaging	Het
Mta1	T	C	12: 113,090,418 (GRCm39)	S175P	possibly damaging	Het
Npat	T	A	9: 53,460,251 (GRCm39)	Y66*	probably null	Het
Nup160	A	G	2: 90,539,214 (GRCm39)	R798G	probably damaging	Het
Or52n2c	T	C	7: 104,574,222 (GRCm39)	I250V	probably damaging	Het
Or8b54	C	A	9: 38,686,850 (GRCm39)	Q100K	probably damaging	Het
Plxnc1	C	T	10: 94,706,893 (GRCm39)	G548E	probably benign	Het
Radil	A	G	5: 142,529,529 (GRCm39)	S56P	probably damaging	Het
Rpgrip1l	A	T	8: 91,959,489 (GRCm39)	M1137K	probably benign	Het
Serpina1c	T	G	12: 103,863,487 (GRCm39)	M238L	probably benign	Het
Tbc1d14	A	G	5: 36,728,863 (GRCm39)	S168P	probably damaging	Het
Tmem209	A	G	6: 30,487,387 (GRCm39)	S498P	probably damaging	Het
Utrn	A	G	10: 12,312,135 (GRCm39)	Y607H	probably damaging	Het
Vipr1	A	G	9: 121,494,255 (GRCm39)	I279V	probably benign	Het
Vmn2r67	T	G	7: 84,805,008 (GRCm39)	N35H	probably benign	Het
Xirp2	C	T	2: 67,344,356 (GRCm39)	T2199I	probably benign	Het
Zfp423	A	G	8: 88,509,883 (GRCm39)	S86P	probably damaging	Het
Zfp831	A	G	2: 174,489,994 (GRCm39)	K1254E	possibly damaging	Het
Zfp873	T	A	10: 81,894,252 (GRCm39)	M1K	probably null	Het

Other mutations in Ccdc90b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02481:Ccdc90b	APN	7	92,223,854 (GRCm39)	missense	probably benign	0.01
R1540:Ccdc90b	UTSW	7	92,231,024 (GRCm39)	missense	probably benign	0.11
R2254:Ccdc90b	UTSW	7	92,221,776 (GRCm39)	missense	probably damaging	1.00
R5184:Ccdc90b	UTSW	7	92,224,019 (GRCm39)	missense	probably damaging	1.00
R6801:Ccdc90b	UTSW	7	92,216,943 (GRCm39)	missense	probably benign	0.00
R7242:Ccdc90b	UTSW	7	92,221,776 (GRCm39)	missense	probably damaging	1.00
R7604:Ccdc90b	UTSW	7	92,227,738 (GRCm39)	missense	probably damaging	1.00
R7644:Ccdc90b	UTSW	7	92,216,868 (GRCm39)	missense	possibly damaging	0.62
R7978:Ccdc90b	UTSW	7	92,216,921 (GRCm39)	missense	probably damaging	1.00
R8170:Ccdc90b	UTSW	7	92,210,750 (GRCm39)	missense	probably benign
R8504:Ccdc90b	UTSW	7	92,224,545 (GRCm39)	missense	probably benign	0.03
Z1177:Ccdc90b	UTSW	7	92,217,765 (GRCm39)	missense	possibly damaging	0.89

Posted On

2015-04-16