Mutagenetix > Incidental Mutation

Incidental Mutation 'R0925:Cimip1'

83130

Institutional Source

Beutler Lab

Gene Symbol

Cimip1

Ensembl Gene

ENSMUSG00000027518

Gene Name

ciliary microtubule inner protein 1

Synonyms

1700021F07Rik

MMRRC Submission

039072-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R0925 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

173364385-173370295 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 173367867 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 47 (S47T)

Ref Sequence

ENSEMBL: ENSMUSP00000029023 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000029023
AA Change: S47T

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000029023
Gene: ENSMUSG00000027518
AA Change: S47T

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

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34l	T	C	8: 44,079,340 (GRCm39)	I295V	probably benign	Het
Adam5	T	C	8: 25,302,441 (GRCm39)	Q101R	probably benign	Het
C2cd4c	T	C	10: 79,448,584 (GRCm39)	N188D	probably benign	Het
Cdc27	A	G	11: 104,416,875 (GRCm39)		probably null	Het
Cdh11	T	A	8: 103,361,356 (GRCm39)	I661L	probably damaging	Het
Csmd1	A	G	8: 16,760,634 (GRCm39)	I167T	probably benign	Het
Dennd3	T	G	15: 73,405,284 (GRCm39)	F346V	probably damaging	Het
Dis3l	A	T	9: 64,248,412 (GRCm39)	M1K	probably null	Het
Dnajb6	A	T	5: 29,957,398 (GRCm39)	K60I	probably damaging	Het
Dock10	T	A	1: 80,514,657 (GRCm39)	H1421L	probably benign	Het
Elmod3	A	T	6: 72,545,921 (GRCm39)	C274S	probably damaging	Het
Eme1	T	C	11: 94,541,558 (GRCm39)	E88G	probably damaging	Het
Fam227a	A	T	15: 79,505,006 (GRCm39)	M475K	probably benign	Het
Frem2	T	C	3: 53,561,394 (GRCm39)	I1038V	probably benign	Het
Gabpb1	T	A	2: 126,494,185 (GRCm39)	N147Y	probably damaging	Het
Gmnc	A	G	16: 26,779,173 (GRCm39)	L278P	probably benign	Het
Gpr153	A	G	4: 152,366,331 (GRCm39)	T299A	probably benign	Het
H2-M11	T	C	17: 36,858,353 (GRCm39)	V49A	probably benign	Het
Hemgn	T	A	4: 46,397,049 (GRCm39)	K62N	probably damaging	Het
Hormad2	G	A	11: 4,377,297 (GRCm39)	T47M	probably damaging	Het
Iqcf6	A	G	9: 106,504,500 (GRCm39)	T55A	probably benign	Het
Itgam	T	C	7: 127,711,410 (GRCm39)	F705L	probably benign	Het
Klk1	T	A	7: 43,878,240 (GRCm39)		probably null	Het
Myo1f	A	T	17: 33,797,107 (GRCm39)	I123F	probably damaging	Het
Nup58	T	C	14: 60,457,590 (GRCm39)	T538A	probably damaging	Het
Or52j3	T	A	7: 102,836,030 (GRCm39)	L74*	probably null	Het
Or5p81	C	T	7: 108,267,400 (GRCm39)	T259I	probably benign	Het
Pdzd2	C	T	15: 12,399,356 (GRCm39)	R790H	probably damaging	Het
Pigv	T	C	4: 133,389,960 (GRCm39)	K74R	probably benign	Het
Prmt8	T	C	6: 127,674,776 (GRCm39)	K284R	probably benign	Het
Rsl1d1	A	T	16: 11,017,553 (GRCm39)	Y138N	probably damaging	Het
Scara5	AC	ACC	14: 66,000,167 (GRCm39)		probably benign	Het
Smc4	T	A	3: 68,913,548 (GRCm39)		probably benign	Het
Spta1	G	A	1: 174,001,992 (GRCm39)	V41I	possibly damaging	Het
Tdrd7	C	A	4: 46,025,758 (GRCm39)	N859K	probably damaging	Het
Vps13d	T	G	4: 144,883,121 (GRCm39)	D824A	probably damaging	Het
Wdfy2	A	T	14: 63,167,675 (GRCm39)		probably null	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
R1102:Cimip1	UTSW	2	173,364,516 (GRCm39)	missense	probably damaging	1.00
R1319:Cimip1	UTSW	2	173,369,716 (GRCm39)	missense	probably damaging	0.98
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'- GGCCAAGTGTCTTTTCAAGCTCCC -3'
(R):5'- ATCAGGTGTCCTGTTGCATGGCTC -3'

Sequencing Primer
(F):5'- GCCAGGGTCTCCTCATAAGTTAAG -3'
(R):5'- gcatggctctcacccac -3'

Posted On

2013-11-08