Mutagenetix > Incidental Mutation

Incidental Mutation 'R1319:Cimip1'

157622

Institutional Source

Beutler Lab

Gene Symbol

Cimip1

Ensembl Gene

ENSMUSG00000027518

Gene Name

ciliary microtubule inner protein 1

Synonyms

1700021F07Rik

MMRRC Submission

039385-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R1319 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

173364385-173370295 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 173369716 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 77 (S77C)

Ref Sequence

ENSEMBL: ENSMUSP00000029023 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029023]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000029023
AA Change: S77C

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000029023
Gene: ENSMUSG00000027518
AA Change: S77C

Domain	Start	End	E-Value	Type
Pfam:LLC1	16	134	2.1e-51	PFAM

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 90.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam28	T	C	14: 68,846,578 (GRCm39)	E745G	probably benign	Het
Adamts12	G	T	15: 11,286,877 (GRCm39)	K827N	probably benign	Het
Ang2	T	C	14: 51,433,164 (GRCm39)	T73A	probably benign	Het
Bbs10	T	C	10: 111,134,735 (GRCm39)	L51P	probably damaging	Het
Bean1	T	C	8: 104,943,856 (GRCm39)	I137T	probably benign	Het
Cttnbp2	T	C	6: 18,434,629 (GRCm39)	T410A	probably benign	Het
Cyp4a10	A	C	4: 115,378,342 (GRCm39)	I143L	probably damaging	Het
Dlg2	A	T	7: 92,087,231 (GRCm39)	Q788L	probably damaging	Het
Epha10	G	A	4: 124,775,707 (GRCm39)	V14I	probably benign	Het
Eprs1	G	A	1: 185,117,159 (GRCm39)	D401N	probably damaging	Het
Fam169a	T	C	13: 97,234,070 (GRCm39)	V114A	probably damaging	Het
Fbn2	G	A	18: 58,333,682 (GRCm39)	P178S	possibly damaging	Het
Fcrl2	A	C	3: 87,169,484 (GRCm39)		probably null	Het
Grm1	G	T	10: 10,565,142 (GRCm39)	H1055Q	probably benign	Het
Mcm6	T	C	1: 128,276,789 (GRCm39)	N267S	probably benign	Het
Or5an1c	T	C	19: 12,218,866 (GRCm39)	D53G	probably damaging	Het
Phc3	T	C	3: 30,984,018 (GRCm39)	I699V	probably damaging	Het
Prl2c2	G	C	13: 13,176,786 (GRCm39)	T47R	probably damaging	Het
Pyroxd1	T	C	6: 142,304,874 (GRCm39)	V367A	probably benign	Het
R3hdm1	G	A	1: 128,159,142 (GRCm39)	R939H	probably benign	Het
Rag1	A	T	2: 101,473,537 (GRCm39)	I535N	probably damaging	Het
Rhot1	T	C	11: 80,136,847 (GRCm39)	C310R	probably damaging	Het
Tnrc6a	G	A	7: 122,783,474 (GRCm39)	V1481M	probably benign	Het
Vmn1r234	A	T	17: 21,449,172 (GRCm39)	M29L	probably benign	Het
Vmn2r68	A	G	7: 84,881,700 (GRCm39)	I460T	probably damaging	Het
Zfhx3	T	A	8: 109,660,465 (GRCm39)	Y1240N	probably damaging	Het

Other mutations in Cimip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02375:Cimip1	APN	2	173,364,496 (GRCm39)	missense	probably benign	0.34
R0376:Cimip1	UTSW	2	173,370,120 (GRCm39)	missense	probably benign	0.00
R0925:Cimip1	UTSW	2	173,367,867 (GRCm39)	missense	probably benign	0.01
R1102:Cimip1	UTSW	2	173,364,516 (GRCm39)	missense	probably damaging	1.00
R3430:Cimip1	UTSW	2	173,370,066 (GRCm39)	missense	possibly damaging	0.60
R4006:Cimip1	UTSW	2	173,367,880 (GRCm39)	critical splice donor site	probably null
R5663:Cimip1	UTSW	2	173,369,690 (GRCm39)	missense	probably damaging	1.00
R6347:Cimip1	UTSW	2	173,369,708 (GRCm39)	missense	possibly damaging	0.77
R6362:Cimip1	UTSW	2	173,369,967 (GRCm39)	splice site	probably null
R6452:Cimip1	UTSW	2	173,369,700 (GRCm39)	missense	probably benign	0.15
R6453:Cimip1	UTSW	2	173,370,052 (GRCm39)	missense	probably benign	0.28

Predicted Primers

PCR Primer
(F):5'- AGTCTAGCAGGAGGACCTCATCAAG -3'
(R):5'- GCCTAAGGTGCCAATGAAGCTTAGC -3'

Sequencing Primer
(F):5'- AAGGAGCACCTCTGCATGG -3'
(R):5'- CTTAGCATGGAGAAGCCAGTC -3'

Posted On

2014-02-18