Mutagenetix > Incidental Mutation

Incidental Mutation 'R8253:Cimap3'

640114

Institutional Source

Beutler Lab

Gene Symbol

Cimap3

Ensembl Gene

ENSMUSG00000010136

Gene Name

ciliary microtubule associated protein 3

Synonyms

pitchfork, 1700027A23Rik, Pifo

MMRRC Submission

067679-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R8253 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

105904273-105921962 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 105905683 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 193 (M193V)

Ref Sequence

ENSEMBL: ENSMUSP00000010280 (fasta)

Gene Model

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

AlphaFold

Q9D9W1

Predicted Effect

probably benign
Transcript: ENSMUST00000010280
AA Change: M193V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000010280
Gene: ENSMUSG00000010136
AA Change: M193V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000066319
AA Change: M154V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000069454
Gene: ENSMUSG00000010136
AA Change: M154V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1l1	T	C	18: 61,874,702 (GRCm39)	E493G	probably benign	Het
Akr1a1	A	T	4: 116,493,840 (GRCm39)	D313E	probably damaging	Het
Ap1m1	T	A	8: 73,006,730 (GRCm39)	V242E	probably damaging	Het
Atad2b	T	A	12: 5,024,159 (GRCm39)	S670T	possibly damaging	Het
Atad2b	C	T	12: 5,024,160 (GRCm39)	S670L	probably benign	Het
Atp23	C	T	10: 126,704,543 (GRCm39)	G197S	probably benign	Het
Avpr1b	A	T	1: 131,537,154 (GRCm39)	T313S	probably benign	Het
Cblc	A	G	7: 19,520,157 (GRCm39)	I362T	probably damaging	Het
Ccdc171	T	A	4: 83,661,207 (GRCm39)	S1106T	probably damaging	Het
Csde1	C	A	3: 102,946,037 (GRCm39)	N10K	probably damaging	Het
Csnk2a2	T	C	8: 96,215,005 (GRCm39)	Y24C		Het
Cyb5r4	G	T	9: 86,941,108 (GRCm39)	L420F	probably damaging	Het
Cyth4	A	G	15: 78,486,937 (GRCm39)	I22V	probably benign	Het
Dnah8	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	17: 30,979,841 (GRCm39)		probably null	Het
Dner	C	T	1: 84,512,598 (GRCm39)	G323E	probably damaging	Het
Elf1	T	C	14: 79,773,792 (GRCm39)	M1T	probably null	Het
Fam13c	T	C	10: 70,389,033 (GRCm39)	S520P	probably damaging	Het
Fhip1b	T	A	7: 105,028,294 (GRCm39)	H885L	possibly damaging	Het
Gabra2	A	G	5: 71,249,413 (GRCm39)	I30T	probably benign	Het
Gm6793	T	A	8: 112,741,640 (GRCm39)	M1L	probably benign	Het
Inpp5a	T	C	7: 139,061,556 (GRCm39)	L76P	probably damaging	Het
Itih5	T	C	2: 10,243,406 (GRCm39)	I381T	probably benign	Het
Lyrm7	T	C	11: 54,741,227 (GRCm39)	I36V	probably null	Het
Magi2	A	G	5: 20,814,305 (GRCm39)	I906V	probably benign	Het
Mup5	C	T	4: 61,752,811 (GRCm39)	A71T	probably benign	Het
Ndufaf6	G	A	4: 11,059,086 (GRCm39)	R248W	probably damaging	Het
Or52z14	A	T	7: 103,253,538 (GRCm39)	I226L	possibly damaging	Het
Or5p50	A	G	7: 107,421,776 (GRCm39)	I300T	probably damaging	Het
Palm	A	T	10: 79,643,511 (GRCm39)	K80*	probably null	Het
Pcyox1	C	T	6: 86,366,044 (GRCm39)	R390K	probably benign	Het
Pdx1	T	C	5: 147,207,459 (GRCm39)		probably null	Het
Pkp2	T	A	16: 16,086,406 (GRCm39)	V689D	probably damaging	Het
Prkar2a	G	T	9: 108,617,638 (GRCm39)	R232L	probably damaging	Het
Rasgrp4	C	T	7: 28,838,287 (GRCm39)	T87M	possibly damaging	Het
Ryr2	T	A	13: 11,842,439 (GRCm39)	Q486L	possibly damaging	Het
Shd	T	C	17: 56,283,295 (GRCm39)	V309A		Het
Skint7	C	T	4: 111,834,675 (GRCm39)	Q20*	probably null	Het
Slc35g1	C	A	19: 38,391,237 (GRCm39)	T173K	probably damaging	Het
Slit2	T	C	5: 48,433,013 (GRCm39)	F1073L	probably benign	Het
Snx18	T	A	13: 113,731,317 (GRCm39)	D559V	probably damaging	Het
Tbr1	G	T	2: 61,635,585 (GRCm39)	Q178H	probably benign	Het
Tmem145	T	G	7: 25,006,939 (GRCm39)	Y114D	probably damaging	Het
Ttc22	T	C	4: 106,495,717 (GRCm39)	L357P	probably damaging	Het
Uba2	T	C	7: 33,850,323 (GRCm39)	M377V	probably damaging	Het
Vps13c	T	A	9: 67,850,770 (GRCm39)	Y2242*	probably null	Het
Xdh	T	G	17: 74,225,377 (GRCm39)	Q475P	possibly damaging	Het
Zbtb42	T	G	12: 112,646,746 (GRCm39)	L307R	probably 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
IGL01615:Cimap3	APN	3	105,904,523 (GRCm39)	splice site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- CCTTCAGGGGATCATGAACTACC -3'
(R):5'- ACCCTATTTGGATGTTGAGGC -3'

Sequencing Primer
(F):5'- GGGGATCATGAACTACCTTAATTTC -3'
(R):5'- AGGCTGGTTTTCTTTAACCTAATGAG -3'

Posted On

2020-07-28