Mutagenetix > Incidental Mutation

Incidental Mutation 'R3499:Cimip3'

273727

Institutional Source

Beutler Lab

Gene Symbol

Cimip3

Ensembl Gene

ENSMUSG00000047150

Gene Name

ciliary microtubule inner protein 3

Synonyms

1700001C19Rik

MMRRC Submission

040662-MU

Accession Numbers

Essential gene?

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

Stock #

R3499 (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: 99.2%
3x: 98.7%
10x: 97.7%
20x: 96.3%

Validation Efficiency

100% (46/46)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430571L13Rik	A	T	9: 107,219,678 (GRCm39)	T44S	probably damaging	Het
Cass4	C	T	2: 172,274,478 (GRCm39)	P753L	probably damaging	Het
Ctif	A	T	18: 75,744,828 (GRCm39)	L92Q	possibly damaging	Het
Dnah11	C	A	12: 117,874,758 (GRCm39)	D4036Y	probably damaging	Het
Dnah17	C	T	11: 117,971,675 (GRCm39)		probably benign	Het
Dnah6	G	C	6: 73,009,616 (GRCm39)	A3725G	probably benign	Het
Ebag9	A	G	15: 44,493,528 (GRCm39)	N117D	probably benign	Het
Elf4	C	T	X: 47,507,942 (GRCm39)	E158K	probably benign	Het
Ephb6	C	T	6: 41,593,093 (GRCm39)	R444*	probably null	Het
Fcgbpl1	T	A	7: 27,853,980 (GRCm39)	I1648K	probably benign	Het
Fndc1	C	T	17: 7,972,416 (GRCm39)	M1505I	possibly damaging	Het
Gpr35	A	G	1: 92,911,113 (GRCm39)	Y275C	probably damaging	Het
Hmcn1	A	T	1: 150,480,853 (GRCm39)	I4441N	probably damaging	Het
Kif13a	T	C	13: 46,978,815 (GRCm39)	D195G	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Ksr2	C	A	5: 117,827,640 (GRCm39)	T473K	probably damaging	Het
Kxd1	T	C	8: 70,966,632 (GRCm39)		probably null	Het
Lyplal1	A	G	1: 185,820,857 (GRCm39)	S197P	possibly damaging	Het
Macf1	A	T	4: 123,421,098 (GRCm39)	L52*	probably null	Het
Mrgprb5	A	G	7: 47,818,661 (GRCm39)	S25P	probably benign	Het
Nucb1	T	C	7: 45,148,300 (GRCm39)	H171R	probably benign	Het
Or10d1c	A	G	9: 38,893,761 (GRCm39)	L193P	probably damaging	Het
Or4a15	A	T	2: 89,193,294 (GRCm39)	F160I	probably benign	Het
Or56b35	G	A	7: 104,963,607 (GRCm39)	C132Y	probably damaging	Het
Or8h8	A	G	2: 86,753,373 (GRCm39)	F168L	possibly damaging	Het
Or8k18	A	G	2: 86,085,185 (GRCm39)	M284T	possibly damaging	Het
Prkdc	A	T	16: 15,585,889 (GRCm39)	I2476F	probably damaging	Het
Ptprf	A	T	4: 118,082,127 (GRCm39)	I1037N	probably damaging	Het
Ralgapa1	T	G	12: 55,741,928 (GRCm39)		probably benign	Het
Ranbp17	GCCTGGATACTGACC	GCC	11: 33,169,203 (GRCm39)		probably benign	Het
Sla2	G	A	2: 156,717,862 (GRCm39)	R137C	probably damaging	Het
Slc28a3	C	T	13: 58,721,253 (GRCm39)		probably benign	Het
Slc44a4	A	G	17: 35,140,656 (GRCm39)	D283G	probably benign	Het
Slc6a9	A	G	4: 117,714,000 (GRCm39)	I105V	probably benign	Het
Smgc	A	G	15: 91,726,206 (GRCm39)	T51A	possibly damaging	Het
Smyd5	T	A	6: 85,415,172 (GRCm39)	L60H	probably damaging	Het
Spred1	A	T	2: 117,005,867 (GRCm39)	M210L	probably benign	Het
Syne2	G	A	12: 76,101,752 (GRCm39)		probably null	Het
Tab3	T	C	X: 84,658,727 (GRCm39)	I418T	probably benign	Het
Tbc1d12	A	T	19: 38,884,478 (GRCm39)	E343V	possibly damaging	Het
Tktl2	T	A	8: 66,965,897 (GRCm39)	I485N	probably damaging	Het
Tmem181a	T	A	17: 6,330,894 (GRCm39)	Y51*	probably null	Het
Tmem229b-ps	C	T	10: 53,351,223 (GRCm39)		noncoding transcript	Het
Trip11	A	G	12: 101,859,953 (GRCm39)	I307T	possibly damaging	Het
Ttf1	T	C	2: 28,955,499 (GRCm39)	S288P	possibly damaging	Het
Zfp395	G	T	14: 65,628,742 (GRCm39)	R198L	possibly damaging	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
R3834:Cimip3	UTSW	17	47,744,348 (GRCm39)	unclassified	probably benign
R3835:Cimip3	UTSW	17	47,744,348 (GRCm39)	unclassified	probably benign
R3901: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'- GGATTGTCTTTTAGAACAACCCTCC -3'
(R):5'- CAGTTATCATGCAGTAGCCCC -3'

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

Posted On

2015-04-02