Mutagenetix > Incidental Mutation

Incidental Mutation 'R6347:Cimip1'

520049

Institutional Source

Beutler Lab

Gene Symbol

Cimip1

Ensembl Gene

ENSMUSG00000027518

Gene Name

ciliary microtubule inner protein 1

Synonyms

1700021F07Rik

MMRRC Submission

044501-MU

Accession Numbers

Essential gene?

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

Stock #

R6347 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

173364385-173370295 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 173369708 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 74 (R74L)

Ref Sequence

ENSEMBL: ENSMUSP00000029023 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029023
AA Change: R74L

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000029023
Gene: ENSMUSG00000027518
AA Change: R74L

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.6%
20x: 92.3%

Validation Efficiency

95% (41/43)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atat1	A	G	17: 36,220,921 (GRCm39)	F3L	probably damaging	Het
Atf7	T	A	15: 102,454,914 (GRCm39)	M285L	possibly damaging	Het
Bcl7b	T	C	5: 135,209,387 (GRCm39)	S95P	possibly damaging	Het
Cald1	A	C	6: 34,741,981 (GRCm39)	K453Q	probably damaging	Het
Cog4	A	T	8: 111,607,275 (GRCm39)	I580F	probably damaging	Het
Cpq	T	A	15: 33,290,332 (GRCm39)		probably null	Het
Csf2rb	G	A	15: 78,229,752 (GRCm39)	D440N	probably damaging	Het
Dst	A	G	1: 34,218,765 (GRCm39)		probably null	Het
Eif2b3	T	C	4: 116,901,763 (GRCm39)	V142A	probably benign	Het
Fat3	A	T	9: 15,909,668 (GRCm39)	N2111K	probably damaging	Het
Fbxo31	C	A	8: 122,305,198 (GRCm39)	E99D	possibly damaging	Het
Fgfr2	T	C	7: 129,863,487 (GRCm39)	E34G	probably damaging	Het
Flvcr2	T	C	12: 85,794,194 (GRCm39)	V190A	possibly damaging	Het
Herc2	T	C	7: 55,844,151 (GRCm39)		probably null	Het
Igkv3-2	A	C	6: 70,676,017 (GRCm39)	M109L	probably benign	Het
Il36rn	G	A	2: 24,169,726 (GRCm39)	A29T	probably damaging	Het
Kif13b	C	T	14: 65,005,068 (GRCm39)	T1120I	probably benign	Het
Kmt2c	A	G	5: 25,515,833 (GRCm39)	I2670T	possibly damaging	Het
Lcp2	A	G	11: 34,032,501 (GRCm39)	M360V	probably benign	Het
Ldlrad4	A	G	18: 68,368,851 (GRCm39)	S103G	probably benign	Het
Loxl4	T	C	19: 42,596,709 (GRCm39)	K88E	probably damaging	Het
Ltbp2	C	A	12: 84,900,686 (GRCm39)	R192L	probably damaging	Het
Mast2	C	A	4: 116,174,929 (GRCm39)	G475V	probably damaging	Het
Meis1	A	C	11: 18,855,631 (GRCm39)		probably null	Het
Mroh3	T	C	1: 136,128,675 (GRCm39)		probably null	Het
Myo5b	C	T	18: 74,903,456 (GRCm39)	A1824V	probably benign	Het
Nectin3	C	T	16: 46,278,487 (GRCm39)	V303M	probably benign	Het
Or5p52	T	C	7: 107,502,157 (GRCm39)	S78P	possibly damaging	Het
Peak1	T	C	9: 56,165,495 (GRCm39)	N811S	probably benign	Het
Pik3ca	C	T	3: 32,516,970 (GRCm39)	A1066V	probably benign	Het
Rnf103	A	G	6: 71,482,808 (GRCm39)	T153A	possibly damaging	Het
Sacs	G	A	14: 61,448,609 (GRCm39)	V3552I	probably damaging	Het
Sgca	A	T	11: 94,862,854 (GRCm39)	N109K	probably damaging	Het
Speg	T	A	1: 75,403,519 (GRCm39)	M2621K	probably benign	Het
Stfa2l1	T	C	16: 35,977,271 (GRCm39)	I22T	probably damaging	Het
Tbpl2	G	A	2: 23,984,715 (GRCm39)	P144L	probably benign	Het
Tmem219	T	C	7: 126,495,998 (GRCm39)	N119S	possibly damaging	Het
Ush2a	A	G	1: 188,643,084 (GRCm39)	T4149A	probably benign	Het
Wdr46	C	A	17: 34,160,826 (GRCm39)	P197T	probably damaging	Het
Wee2	C	T	6: 40,432,039 (GRCm39)	R203C	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
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
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'- GGCTAACTCCGCAACTCAGATC -3'
(R):5'- TGTCATTGTAGGGCAAATGGC -3'

Sequencing Primer
(F):5'- AGGAGCACCTCTGCATGG -3'
(R):5'- CCACACATGCCACAGGGTG -3'

Posted On

2018-06-06