Mutagenetix > Incidental Mutation

Incidental Mutation 'R3901:Cimip3'

308997

Institutional Source

Beutler Lab

Gene Symbol

Cimip3

Ensembl Gene

ENSMUSG00000047150

Gene Name

ciliary microtubule inner protein 3

Synonyms

1700001C19Rik

MMRRC Submission

040810-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.048) question?

Stock #

R3901 (G1)

Quality Score

217

Status

Validated

Chromosome

Chromosomal Location

47723659-47748301 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

AC to A at 47744348 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120133 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037701] [ENSMUST00000061885] [ENSMUST00000150819]

AlphaFold

Q8K168

Predicted Effect

probably benign
Transcript: ENSMUST00000037701

SMART Domains

Protein: ENSMUSP00000045345
Gene: ENSMUSG00000034382

Domain	Start	End	E-Value	Type
low complexity region	140	151	N/A	INTRINSIC
low complexity region	157	180	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000061885

SMART Domains

Protein: ENSMUSP00000050873
Gene: ENSMUSG00000047150

Domain	Start	End	E-Value	Type
low complexity region	74	86	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000150819

SMART Domains

Protein: ENSMUSP00000120133
Gene: ENSMUSG00000034382

Domain	Start	End	E-Value	Type
low complexity region	140	151	N/A	INTRINSIC
low complexity region	157	237	N/A	INTRINSIC
low complexity region	294	312	N/A	INTRINSIC
low complexity region	314	325	N/A	INTRINSIC
low complexity region	354	364	N/A	INTRINSIC
low complexity region	384	423	N/A	INTRINSIC
low complexity region	429	444	N/A	INTRINSIC
low complexity region	522	535	N/A	INTRINSIC
low complexity region	612	627	N/A	INTRINSIC
internal_repeat_1	628	654	6.24e-9	PROSPERO
low complexity region	656	671	N/A	INTRINSIC
internal_repeat_1	688	714	6.24e-9	PROSPERO
low complexity region	853	863	N/A	INTRINSIC
low complexity region	976	1016	N/A	INTRINSIC
low complexity region	1147	1154	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160678

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

98% (39/40)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	T	A	15: 94,226,726 (GRCm39)	D1109V	possibly damaging	Het
Apc2	G	C	10: 80,150,922 (GRCm39)	R1992P	possibly damaging	Het
Atmin	A	G	8: 117,683,036 (GRCm39)	N232S	probably benign	Het
Brat1	A	C	5: 140,703,751 (GRCm39)	D668A	possibly damaging	Het
Casp16	A	T	17: 23,771,922 (GRCm39)	V101E	probably damaging	Het
Cass4	C	T	2: 172,274,478 (GRCm39)	P753L	probably damaging	Het
Clec7a	A	G	6: 129,445,877 (GRCm39)	S98P	possibly damaging	Het
Cpne5	G	A	17: 29,378,082 (GRCm39)	R566C	unknown	Het
Csrnp1	C	T	9: 119,801,707 (GRCm39)	E451K	probably damaging	Het
Dlst	A	G	12: 85,179,465 (GRCm39)	T435A	possibly damaging	Het
Dock8	A	G	19: 25,078,269 (GRCm39)	T525A	possibly damaging	Het
Dync2li1	A	G	17: 84,939,070 (GRCm39)	T45A	probably damaging	Het
Efcab3	A	G	11: 104,974,713 (GRCm39)	N5307S	possibly damaging	Het
Epha4	A	G	1: 77,357,539 (GRCm39)	Y820H	probably damaging	Het
F5	A	G	1: 164,003,798 (GRCm39)	T198A	probably benign	Het
Fbn2	T	A	18: 58,199,083 (GRCm39)	N1395I	probably damaging	Het
Fcnb	T	A	2: 27,969,208 (GRCm39)	Y163F	probably damaging	Het
Gm5444	T	C	13: 4,884,278 (GRCm39)		noncoding transcript	Het
Jph3	G	T	8: 122,480,158 (GRCm39)	D279Y	possibly damaging	Het
Kcnj3	A	G	2: 55,327,360 (GRCm39)	N50D	possibly damaging	Het
Kcnma1	A	G	14: 23,555,323 (GRCm39)	I416T	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Kmt2e	A	G	5: 23,706,640 (GRCm39)	N1401S	probably benign	Het
Lama5	C	T	2: 179,824,144 (GRCm39)		probably benign	Het
Lrp1b	A	G	2: 40,712,707 (GRCm39)	V3095A	probably damaging	Het
Mmp1a	A	G	9: 7,475,346 (GRCm39)	*372W	probably null	Het
Or7d11	C	T	9: 19,966,169 (GRCm39)	V197I	probably benign	Het
Pdgfra	T	A	5: 75,353,169 (GRCm39)	N986K	probably benign	Het
Pgap1	C	T	1: 54,532,507 (GRCm39)	V671I	probably benign	Het
Pla2g4e	T	C	2: 119,999,085 (GRCm39)	S760G	probably benign	Het
Plk3	T	C	4: 116,990,633 (GRCm39)	I94V	probably benign	Het
Pogk	C	T	1: 166,231,193 (GRCm39)	V45I	probably damaging	Het
Pou2f1	G	C	1: 165,722,538 (GRCm39)	P349R	probably damaging	Het
Rims1	T	A	1: 22,572,578 (GRCm39)	Q541L	probably benign	Het
Rptn	A	G	3: 93,305,664 (GRCm39)	Q999R	probably benign	Het
Stxbp5	A	G	10: 9,645,163 (GRCm39)	L911P	probably damaging	Het
Tgfbr3	A	G	5: 107,362,753 (GRCm39)		probably benign	Het
Trim7	A	T	11: 48,728,435 (GRCm39)	T28S	probably damaging	Het
Zfp595	T	C	13: 67,465,379 (GRCm39)	I295V	probably benign	Het

Other mutations in Cimip3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0675:Cimip3	UTSW	17	47,724,701 (GRCm39)	missense	probably benign	0.25
R1529:Cimip3	UTSW	17	47,724,815 (GRCm39)	missense	probably benign	0.11
R2256:Cimip3	UTSW	17	47,744,348 (GRCm39)	unclassified	probably benign
R2257:Cimip3	UTSW	17	47,744,348 (GRCm39)	unclassified	probably benign
R2512:Cimip3	UTSW	17	47,724,651 (GRCm39)	missense	probably benign
R2883:Cimip3	UTSW	17	47,747,650 (GRCm39)	missense	probably damaging	0.99
R3498:Cimip3	UTSW	17	47,744,348 (GRCm39)	unclassified	probably benign
R3499:Cimip3	UTSW	17	47,744,348 (GRCm39)	unclassified	probably benign
R3834:Cimip3	UTSW	17	47,744,348 (GRCm39)	unclassified	probably benign
R3835:Cimip3	UTSW	17	47,744,348 (GRCm39)	unclassified	probably benign
R3910:Cimip3	UTSW	17	47,744,348 (GRCm39)	unclassified	probably benign
R3911:Cimip3	UTSW	17	47,744,348 (GRCm39)	unclassified	probably benign
R3913:Cimip3	UTSW	17	47,744,348 (GRCm39)	unclassified	probably benign
R4191:Cimip3	UTSW	17	47,747,562 (GRCm39)	missense	probably damaging	0.99
R4280:Cimip3	UTSW	17	47,724,780 (GRCm39)	missense	probably benign	0.02
R7054:Cimip3	UTSW	17	47,748,114 (GRCm39)	critical splice donor site	probably null
R8008:Cimip3	UTSW	17	47,747,661 (GRCm39)	missense	probably damaging	0.98
Z1176:Cimip3	UTSW	17	47,724,659 (GRCm39)	missense	probably benign	0.44

Predicted Primers

PCR Primer
(F):5'- GATTGTCTTTTAGAACAACCCTCCC -3'
(R):5'- ACAGTTATCATGCAGTAGCCCC -3'

Sequencing Primer
(F):5'- ACTGTAGCTCCGTGTAGAACC -3'
(R):5'- GTAGCCCCCGTCCCTATTAAAATAG -3'

Posted On

2015-04-17