Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00825:Cimap1c'

12829

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cimap1c

Ensembl Gene

ENSMUSG00000045620

Gene Name

ciliary microtubule associated protein 1C

Synonyms

Odf3l1, LOC382075

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

IGL00825

Quality Score

Status

Chromosome

Chromosomal Location

56755943-56771963 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56758975 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 60 (I60T)

Ref Sequence

ENSEMBL: ENSMUSP00000149166 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055036] [ENSMUST00000215694]

AlphaFold

Q810P2

Predicted Effect

probably benign
Transcript: ENSMUST00000055036
AA Change: I29T

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000060418
Gene: ENSMUSG00000045620
AA Change: I29T

Domain	Start	End	E-Value	Type
Pfam:SHIPPO-rpt	235	264	5.8e-5	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000215694
AA Change: I60T

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd3	C	T	18: 10,704,657 (GRCm39)	V129M	probably benign	Het
Casp8	G	A	1: 58,868,165 (GRCm39)	S202N	probably benign	Het
Clec2g	C	A	6: 128,957,144 (GRCm39)		probably null	Het
Dnah7b	T	C	1: 46,263,811 (GRCm39)	Y2098H	probably damaging	Het
Dzip3	T	C	16: 48,748,778 (GRCm39)	K1053E	probably damaging	Het
Ern1	T	C	11: 106,312,793 (GRCm39)	K196R	probably benign	Het
Jcad	A	T	18: 4,673,516 (GRCm39)	Y426F	probably damaging	Het
Kansl1l	T	C	1: 66,840,671 (GRCm39)	T210A	probably benign	Het
Map2k2	G	A	10: 80,954,052 (GRCm39)	V173I	probably benign	Het
P3h2	A	G	16: 25,811,548 (GRCm39)	I225T	probably damaging	Het
Pld2	G	A	11: 70,442,006 (GRCm39)	W337*	probably null	Het
Ppp2r2b	C	T	18: 42,778,840 (GRCm39)	V429M	probably damaging	Het
Pprc1	G	T	19: 46,059,845 (GRCm39)		probably benign	Het
Ptpn4	A	G	1: 119,587,655 (GRCm39)		probably benign	Het
Rap1gds1	T	A	3: 138,689,588 (GRCm39)	I135F	possibly damaging	Het
Rasa2	A	T	9: 96,452,772 (GRCm39)	N371K	probably benign	Het
Rbbp8	A	G	18: 11,855,664 (GRCm39)	T604A	probably benign	Het
Safb2	A	G	17: 56,878,208 (GRCm39)		probably null	Het
Sec23ip	C	A	7: 128,369,333 (GRCm39)	L686I	probably damaging	Het
Slc22a6	T	C	19: 8,595,721 (GRCm39)	V21A	possibly damaging	Het
Slco1c1	A	T	6: 141,487,868 (GRCm39)	N79Y	probably damaging	Het
Tbl1xr1	G	T	3: 22,243,950 (GRCm39)		probably null	Het
Zfp961	T	A	8: 72,721,888 (GRCm39)	C134S	possibly damaging	Het

Other mutations in Cimap1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Cimap1c	APN	9	56,756,341 (GRCm39)	missense	probably benign	0.01
IGL03186:Cimap1c	APN	9	56,756,356 (GRCm39)	missense	probably benign	0.07
R1791:Cimap1c	UTSW	9	56,759,027 (GRCm39)	missense	possibly damaging	0.90
R1893:Cimap1c	UTSW	9	56,756,498 (GRCm39)	missense	probably benign	0.43
R7177:Cimap1c	UTSW	9	56,757,262 (GRCm39)	missense	possibly damaging	0.70
R7471:Cimap1c	UTSW	9	56,759,783 (GRCm39)	critical splice donor site	probably null
R7761:Cimap1c	UTSW	9	56,759,822 (GRCm39)	missense	unknown

Posted On

2012-12-06