Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01615:Cimap3'

92378

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cimap3

Ensembl Gene

ENSMUSG00000010136

Gene Name

ciliary microtubule associated protein 3

Synonyms

pitchfork, 1700027A23Rik, Pifo

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

IGL01615

Quality Score

Status

Chromosome

Chromosomal Location

105904273-105921962 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 105904523 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000069454 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010280] [ENSMUST00000066319]

AlphaFold

Q9D9W1

Predicted Effect

probably null
Transcript: ENSMUST00000010280

SMART Domains

Protein: ENSMUSP00000010280
Gene: ENSMUSG00000010136

Domain	Start	End	E-Value	Type
Pfam:SHIPPO-rpt	183	209	5.2e-6	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000066319

SMART Domains

Protein: ENSMUSP00000069454
Gene: ENSMUSG00000010136

Domain	Start	End	E-Value	Type
Pfam:SHIPPO-rpt	58	96	1.9e-2	PFAM
Pfam:SHIPPO-rpt	144	184	1.9e-5	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198855

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Heterozygous null embryos generated by tetraploid complementation display embryonic lethality with double outlet heart right ventricle, duplicated cilia and defects in cilia disassembly. A conditional allele activated in limb bub cultures doesn't interfere with cilia development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adnp2	T	C	18: 80,171,692 (GRCm39)	T906A	probably damaging	Het
Akap13	A	G	7: 75,347,141 (GRCm39)	S1731G	probably damaging	Het
Apbb2	A	G	5: 66,465,044 (GRCm39)	V650A	probably benign	Het
Appl1	A	G	14: 26,681,427 (GRCm39)		probably benign	Het
Avpr1b	T	G	1: 131,527,885 (GRCm39)	V136G	probably damaging	Het
C6	T	C	15: 4,811,378 (GRCm39)	F409L	probably benign	Het
Ccdc121rt3	A	G	5: 112,503,696 (GRCm39)	S3P	possibly damaging	Het
Cdk20	A	G	13: 64,584,124 (GRCm39)		probably benign	Het
Cenpf	T	C	1: 189,385,381 (GRCm39)	K2300E	possibly damaging	Het
Cfap57	C	T	4: 118,457,993 (GRCm39)	R399Q	probably damaging	Het
Cnnm1	A	T	19: 43,460,375 (GRCm39)	S706C	probably benign	Het
Cr1l	T	C	1: 194,812,189 (GRCm39)	I45V	possibly damaging	Het
D130043K22Rik	A	T	13: 25,083,779 (GRCm39)	R1081S	probably damaging	Het
Ddx60	A	T	8: 62,416,774 (GRCm39)	H573L	probably null	Het
Eif5b	T	C	1: 38,084,787 (GRCm39)	L878S	probably damaging	Het
Ets1	T	C	9: 32,644,235 (GRCm39)		probably benign	Het
Evi5	A	G	5: 107,912,573 (GRCm39)	L696P	probably damaging	Het
Fbh1	C	A	2: 11,762,334 (GRCm39)	E12*	probably null	Het
Gabpb1	C	A	2: 126,495,520 (GRCm39)	M77I	possibly damaging	Het
Glul	T	A	1: 153,782,222 (GRCm39)	N152K	probably benign	Het
Gm45234	T	C	6: 124,723,394 (GRCm39)	Y613C	probably damaging	Het
Gm5611	A	G	9: 16,941,647 (GRCm39)		noncoding transcript	Het
Gpr156	T	A	16: 37,808,953 (GRCm39)	I225K	probably damaging	Het
Herc4	T	C	10: 63,126,461 (GRCm39)		probably benign	Het
Iqsec3	C	T	6: 121,387,580 (GRCm39)	V720M	probably damaging	Het
Itgam	A	T	7: 127,715,939 (GRCm39)	H1104L	possibly damaging	Het
Itgb3	T	A	11: 104,534,791 (GRCm39)	D549E	probably damaging	Het
Kctd7	A	T	5: 130,176,976 (GRCm39)	M76L	probably damaging	Het
Kdm3b	T	G	18: 34,962,284 (GRCm39)	N1523K	probably damaging	Het
Map3k12	T	A	15: 102,412,186 (GRCm39)	E318D	probably damaging	Het
Mc1r	T	C	8: 124,134,789 (GRCm39)	Y181H	probably damaging	Het
Mex3c	G	A	18: 73,706,703 (GRCm39)	A197T	unknown	Het
Mvk	A	G	5: 114,584,353 (GRCm39)	D71G	probably benign	Het
Ndufb3	T	A	1: 58,634,912 (GRCm39)	L88*	probably null	Het
Or56a4	A	G	7: 104,806,667 (GRCm39)	V74A	probably benign	Het
Or5p55	A	G	7: 107,567,144 (GRCm39)	D180G	probably damaging	Het
Pramel17	T	A	4: 101,694,201 (GRCm39)	R227S	possibly damaging	Het
Psmg2	G	A	18: 67,786,293 (GRCm39)	V218I	probably benign	Het
Slc5a3	C	T	16: 91,876,000 (GRCm39)	Q686*	probably null	Het
Vmn2r75	T	C	7: 85,797,681 (GRCm39)	I711V	probably benign	Het
Vps13c	T	A	9: 67,863,063 (GRCm39)	H3026Q	probably benign	Het
Zfp354c	A	G	11: 50,708,732 (GRCm39)	S22P	possibly damaging	Het

Other mutations in Cimap3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Cimap3	APN	3	105,921,824 (GRCm39)	missense	probably benign	0.29
IGL02451:Cimap3	APN	3	105,921,820 (GRCm39)	missense	probably benign	0.09
R0139:Cimap3	UTSW	3	105,906,886 (GRCm39)	missense	possibly damaging	0.46
R1802:Cimap3	UTSW	3	105,921,866 (GRCm39)	missense	possibly damaging	0.77
R1832:Cimap3	UTSW	3	105,921,912 (GRCm39)	missense	possibly damaging	0.53
R4404:Cimap3	UTSW	3	105,908,684 (GRCm39)	missense	probably benign	0.25
R4681:Cimap3	UTSW	3	105,905,701 (GRCm39)	missense	probably damaging	1.00
R4984:Cimap3	UTSW	3	105,908,810 (GRCm39)	start gained	probably benign
R5245:Cimap3	UTSW	3	105,921,770 (GRCm39)	missense	possibly damaging	0.92
R5308:Cimap3	UTSW	3	105,908,419 (GRCm39)	missense	probably benign	0.02
R6015:Cimap3	UTSW	3	105,906,937 (GRCm39)	missense	possibly damaging	0.47
R7430:Cimap3	UTSW	3	105,921,834 (GRCm39)	missense	probably benign
R8253:Cimap3	UTSW	3	105,905,683 (GRCm39)	missense	probably benign
R9201:Cimap3	UTSW	3	105,906,921 (GRCm39)	missense	probably damaging	1.00
Z1177:Cimap3	UTSW	3	105,906,921 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-12-09