Mutagenetix > Incidental Mutation

Incidental Mutation 'R6848:Mcidas'

534881

Institutional Source

Beutler Lab

Gene Symbol

Mcidas

Ensembl Gene

ENSMUSG00000074651

Gene Name

multiciliate differentiation and DNA synthesis associated cell cycle protein

Synonyms

Gm6320, Mcin, Idas, Mci, multicilin

MMRRC Submission

045022-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6848 (G1)

Quality Score

193.009

Status

Validated

Chromosome

Chromosomal Location

113130379-113136928 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 113130419 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 5 (E5G)

Ref Sequence

ENSEMBL: ENSMUSP00000089721 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038404] [ENSMUST00000092089]

AlphaFold

Q3UZ45

Predicted Effect

probably benign
Transcript: ENSMUST00000038404

SMART Domains

Protein: ENSMUSP00000040083
Gene: ENSMUSG00000042417

Domain	Start	End	E-Value	Type
low complexity region	6	17	N/A	INTRINSIC
low complexity region	30	46	N/A	INTRINSIC
low complexity region	63	79	N/A	INTRINSIC
CYCLIN	140	224	1.23e-19	SMART
Cyclin_C	233	350	3.49e-7	SMART
CYCLIN	244	327	5.77e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000092089
AA Change: E5G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000089721
Gene: ENSMUSG00000074651
AA Change: E5G

Domain	Start	End	E-Value	Type
low complexity region	60	73	N/A	INTRINSIC
Pfam:Geminin	169	258	4.8e-20	PFAM
low complexity region	262	272	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

98% (54/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the geminin family of proteins. The encoded nuclear protein is required for the generation of multiciliated cells in respiratory epithelium. Mutations in this gene cause a rare mucociliary clearance disorder associated with recurring respiratory infections in human patients, known as reduced generation of multiple motile cilia (RGMC). [provided by RefSeq, Sep 2016]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap1	T	C	11: 69,775,487 (GRCm39)	N290S	probably damaging	Het
Acox3	G	T	5: 35,749,528 (GRCm39)	G218C	probably damaging	Het
Acsf3	G	A	8: 123,517,329 (GRCm39)	G375D	probably damaging	Het
Adamts9	G	T	6: 92,840,335 (GRCm39)	N568K	possibly damaging	Het
Akr1cl	G	A	1: 65,063,928 (GRCm39)	T87I	probably damaging	Het
Brcc3dc	A	T	10: 108,535,451 (GRCm39)	V168E	probably damaging	Het
Cacna1s	G	A	1: 136,020,432 (GRCm39)	R823Q	probably benign	Het
Casp16	A	T	17: 23,770,053 (GRCm39)	C175*	probably null	Het
Cast	T	C	13: 74,844,052 (GRCm39)	K694R	possibly damaging	Het
Cep70	G	A	9: 99,144,954 (GRCm39)	R100H	probably benign	Het
Cep72	C	T	13: 74,186,395 (GRCm39)	A259T	possibly damaging	Het
Chsy1	T	A	7: 65,820,785 (GRCm39)	M340K	probably damaging	Het
Col27a1	T	C	4: 63,220,608 (GRCm39)	S182P	probably benign	Het
Crlf2	A	C	5: 109,704,897 (GRCm39)	F103V	possibly damaging	Het
Dync2h1	T	C	9: 7,159,632 (GRCm39)	N652S	probably benign	Het
Ephx4	G	A	5: 107,574,784 (GRCm39)	G274D	probably damaging	Het
Fer	T	A	17: 64,298,601 (GRCm39)	F517I	probably damaging	Het
Fsip2	A	T	2: 82,813,131 (GRCm39)	H3150L	probably benign	Het
Gata3	T	A	2: 9,863,339 (GRCm39)	N392Y	possibly damaging	Het
Gria4	C	T	9: 4,793,822 (GRCm39)	V79M	probably damaging	Het
Grk3	A	C	5: 113,133,641 (GRCm39)	N60K	probably damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Igf1r	T	G	7: 67,653,927 (GRCm39)	I155R	probably damaging	Het
Igsf9	T	C	1: 172,323,329 (GRCm39)	L681P	probably damaging	Het
Intu	T	C	3: 40,648,685 (GRCm39)	M789T	probably benign	Het
Kit	A	T	5: 75,767,872 (GRCm39)	Q85L	probably benign	Het
Klhdc2	T	A	12: 69,355,750 (GRCm39)	C325*	probably null	Het
Mcm5	G	T	8: 75,853,918 (GRCm39)	R724L	possibly damaging	Het
Nrbp2	G	A	15: 75,963,332 (GRCm39)		probably benign	Het
Nrg1	A	G	8: 32,308,084 (GRCm39)	I655T	probably damaging	Het
Nsun4	T	C	4: 115,910,131 (GRCm39)	D143G	possibly damaging	Het
Opn3	C	T	1: 175,490,615 (GRCm39)	V349M	probably damaging	Het
Or51ag1	A	G	7: 103,155,664 (GRCm39)	V163A	possibly damaging	Het
Or5d47	A	T	2: 87,804,514 (GRCm39)	V165E	possibly damaging	Het
Or6d14	T	C	6: 116,533,736 (GRCm39)	S117P	probably damaging	Het
Pank2	C	A	2: 131,124,546 (GRCm39)	L297I	probably damaging	Het
Pcdh20	T	A	14: 88,704,690 (GRCm39)	E870V	probably benign	Het
Pdcd6	T	A	13: 74,457,959 (GRCm39)	M71L	possibly damaging	Het
Phkb	A	T	8: 86,756,246 (GRCm39)	I847F	probably damaging	Het
Psmb1	A	G	17: 15,697,509 (GRCm39)	F202S	probably benign	Het
Pwp2	C	G	10: 78,020,127 (GRCm39)		probably null	Het
Rbms3	A	G	9: 117,080,809 (GRCm39)	Y21H	probably damaging	Het
Rhbdl1	T	A	17: 26,055,158 (GRCm39)	K17*	probably null	Het
Rp1l1	C	A	14: 64,265,667 (GRCm39)	Q418K	possibly damaging	Het
Scpppq1	A	G	5: 104,222,603 (GRCm39)		probably benign	Het
Slc22a4	A	T	11: 53,898,615 (GRCm39)	V159E	possibly damaging	Het
Spata31d1a	T	C	13: 59,849,777 (GRCm39)	T784A	possibly damaging	Het
Tll1	A	G	8: 64,551,544 (GRCm39)	M279T	probably damaging	Het
Tmem163	A	T	1: 127,479,117 (GRCm39)	V134D	probably damaging	Het
Top2b	A	G	14: 16,409,958 (GRCm38)	N875S	possibly damaging	Het
Tpd52l1	T	C	10: 31,208,853 (GRCm39)	E205G	probably benign	Het
Tpsb2	T	A	17: 25,586,802 (GRCm39)	Y271*	probably null	Het
Ugt3a1	G	A	15: 9,280,138 (GRCm39)		probably null	Het
Vmn2r67	T	C	7: 84,801,840 (GRCm39)	M154V	probably benign	Het
Zfp740	T	G	15: 102,117,243 (GRCm39)	I89S	probably benign	Het

Other mutations in Mcidas

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01013:Mcidas	APN	13	113,134,119 (GRCm39)	splice site	probably benign
IGL01355:Mcidas	APN	13	113,135,603 (GRCm39)	missense	probably damaging	1.00
IGL02000:Mcidas	APN	13	113,133,974 (GRCm39)	missense	probably benign
IGL02019:Mcidas	APN	13	113,133,377 (GRCm39)	missense	probably benign	0.00
R0145:Mcidas	UTSW	13	113,130,906 (GRCm39)	missense	probably damaging	1.00
R0412:Mcidas	UTSW	13	113,135,677 (GRCm39)	missense	probably damaging	1.00
R1293:Mcidas	UTSW	13	113,133,926 (GRCm39)	missense	probably benign
R2011:Mcidas	UTSW	13	113,130,515 (GRCm39)	missense	possibly damaging	0.84
R4183:Mcidas	UTSW	13	113,130,906 (GRCm39)	missense	probably damaging	1.00
R4905:Mcidas	UTSW	13	113,134,038 (GRCm39)	missense	possibly damaging	0.82
R4905:Mcidas	UTSW	13	113,130,951 (GRCm39)	missense	possibly damaging	0.84
R5615:Mcidas	UTSW	13	113,133,959 (GRCm39)	missense	probably benign	0.01
R5997:Mcidas	UTSW	13	113,135,120 (GRCm39)	missense	probably damaging	0.99
R7387:Mcidas	UTSW	13	113,130,622 (GRCm39)	missense	probably benign	0.03
R7398:Mcidas	UTSW	13	113,133,416 (GRCm39)	missense	probably benign
R7742:Mcidas	UTSW	13	113,135,521 (GRCm39)	missense	probably damaging	1.00
R7795:Mcidas	UTSW	13	113,135,521 (GRCm39)	missense	probably damaging	1.00
R7797:Mcidas	UTSW	13	113,135,521 (GRCm39)	missense	probably damaging	1.00
R7872:Mcidas	UTSW	13	113,135,521 (GRCm39)	missense	probably damaging	1.00
R7873:Mcidas	UTSW	13	113,135,521 (GRCm39)	missense	probably damaging	1.00
R7920:Mcidas	UTSW	13	113,135,521 (GRCm39)	missense	probably damaging	1.00
R8859:Mcidas	UTSW	13	113,130,664 (GRCm39)	missense	possibly damaging	0.90
R9342:Mcidas	UTSW	13	113,130,915 (GRCm39)	missense	probably damaging	1.00
R9761:Mcidas	UTSW	13	113,135,453 (GRCm39)	missense	probably benign	0.04
X0066:Mcidas	UTSW	13	113,133,981 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TTGCCAGGTTGGTTAACGCC -3'
(R):5'- TCCACGAAGGAACGAACTG -3'

Sequencing Primer
(F):5'- GTTGGTTAACGCCTCCGC -3'
(R):5'- GGATGCACATGGTCAGCGTTC -3'

Posted On

2018-09-12