Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00662:Cmss1'

9750

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cmss1

Ensembl Gene

ENSMUSG00000022748

Gene Name

cms small ribosomal subunit 1

Synonyms

1110001A06Rik, 2610528E23Rik, 4930572F24Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

IGL00662

Quality Score

Status

Chromosome

Chromosomal Location

57122363-57427227 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57124092 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 233 (D233G)

Ref Sequence

ENSEMBL: ENSMUSP00000110011 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114371]

AlphaFold

Q9CZT6

Predicted Effect

probably damaging
Transcript: ENSMUST00000114371
AA Change: D233G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000110011
Gene: ENSMUSG00000022748
AA Change: D233G

Domain	Start	End	E-Value	Type
low complexity region	13	29	N/A	INTRINSIC
Pfam:CMS1	42	266	7.9e-35	PFAM
Pfam:DEAD	127	234	4e-7	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atg16l2	T	C	7: 100,939,103 (GRCm39)	N587S	probably benign	Het
Bcar3	C	T	3: 122,306,585 (GRCm39)	A186V	probably benign	Het
Bcr	A	T	10: 75,003,932 (GRCm39)		probably benign	Het
Cd207	A	G	6: 83,652,908 (GRCm39)	I74T	possibly damaging	Het
Cenpn	T	C	8: 117,655,326 (GRCm39)		probably null	Het
Chuk	A	T	19: 44,085,649 (GRCm39)	F228I	possibly damaging	Het
Copg1	C	T	6: 87,879,352 (GRCm39)	T466I	possibly damaging	Het
Ctsll3	A	G	13: 60,946,756 (GRCm39)	S288P	probably benign	Het
Fat3	T	A	9: 15,907,723 (GRCm39)	I2760F	possibly damaging	Het
Gpi1	A	G	7: 33,915,375 (GRCm39)		probably benign	Het
Il18rap	C	T	1: 40,581,081 (GRCm39)	R318C	probably benign	Het
Kcnk9	A	G	15: 72,417,924 (GRCm39)	S69P	probably benign	Het
Kctd18	T	C	1: 57,995,897 (GRCm39)	T127A	probably damaging	Het
Khk	T	C	5: 31,087,019 (GRCm39)		probably benign	Het
Ncapg	T	A	5: 45,850,502 (GRCm39)	S703T	possibly damaging	Het
Nup98	T	A	7: 101,844,194 (GRCm39)	N47I	probably damaging	Het
Rad1	A	G	15: 10,490,495 (GRCm39)	N154S	probably benign	Het
Rigi	A	G	4: 40,220,389 (GRCm39)		probably benign	Het
Slc35f5	T	A	1: 125,515,161 (GRCm39)	L438H	probably damaging	Het
Slc7a2	A	G	8: 41,358,659 (GRCm39)	Y334C	possibly damaging	Het
Spata17	T	C	1: 186,849,536 (GRCm39)	N124S	probably benign	Het
Tfap2c	T	C	2: 172,393,438 (GRCm39)	Y118H	probably damaging	Het
Tnpo3	A	T	6: 29,565,845 (GRCm39)	L503*	probably null	Het
Utrn	C	T	10: 12,540,705 (GRCm39)	E1907K	probably damaging	Het
Vav3	T	A	3: 109,435,708 (GRCm39)		probably benign	Het
Vps13a	T	A	19: 16,681,904 (GRCm39)	K1033I	probably damaging	Het
Zfp202	A	G	9: 40,122,339 (GRCm39)	N367S	probably benign	Het

Other mutations in Cmss1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0031:Cmss1	UTSW	16	57,131,612 (GRCm39)	splice site	probably null
R1231:Cmss1	UTSW	16	57,136,560 (GRCm39)	missense	probably benign	0.14
R1556:Cmss1	UTSW	16	57,136,560 (GRCm39)	missense	probably benign	0.14
R2017:Cmss1	UTSW	16	57,136,641 (GRCm39)	missense	probably damaging	0.99
R3748:Cmss1	UTSW	16	57,122,635 (GRCm39)	missense	probably damaging	0.96
R4835:Cmss1	UTSW	16	57,136,545 (GRCm39)	nonsense	probably null
R5316:Cmss1	UTSW	16	57,122,638 (GRCm39)	missense	probably damaging	0.99
R5598:Cmss1	UTSW	16	57,131,649 (GRCm39)	missense	probably damaging	1.00
R5987:Cmss1	UTSW	16	57,122,608 (GRCm39)	missense	probably benign	0.40
R7145:Cmss1	UTSW	16	57,131,718 (GRCm39)	missense	probably benign	0.19
R7664:Cmss1	UTSW	16	57,138,310 (GRCm39)	missense	probably benign	0.00
R8377:Cmss1	UTSW	16	57,127,757 (GRCm39)	missense	possibly damaging	0.58

Posted On

2012-12-06