Mutagenetix > Incidental Mutation

Incidental Mutation 'R5316:Cmss1'

405853

Institutional Source

Beutler Lab

Gene Symbol

Cmss1

Ensembl Gene

ENSMUSG00000022748

Gene Name

cms small ribosomal subunit 1

Synonyms

1110001A06Rik, 2610528E23Rik, 4930572F24Rik

MMRRC Submission

042899-MU

Accession Numbers

Essential gene?

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

Stock #

R5316 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57122363-57427227 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 57122638 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Threonine at position 252 (K252T)

Ref Sequence

ENSEMBL: ENSMUSP00000110011 (fasta)

Gene Model

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

AlphaFold

Q9CZT6

Predicted Effect

probably damaging
Transcript: ENSMUST00000114371
AA Change: K252T

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

SMART Domains

Protein: ENSMUSP00000110011
Gene: ENSMUSG00000022748
AA Change: K252T

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

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	G	A	12: 113,455,013 (GRCm39)	R610H	probably damaging	Het
Agap2	G	A	10: 126,918,296 (GRCm39)		probably null	Het
Apol10a	A	G	15: 77,372,729 (GRCm39)	T122A	probably damaging	Het
Arhgap17	G	T	7: 122,895,750 (GRCm39)	A458D	possibly damaging	Het
Cd80	C	T	16: 38,294,239 (GRCm39)	Q41*	probably null	Het
Cog2	A	G	8: 125,255,779 (GRCm39)	D122G	probably benign	Het
Dsc3	T	A	18: 20,096,598 (GRCm39)	D841V	possibly damaging	Het
Dst	C	A	1: 34,262,929 (GRCm39)	Q4549K	probably damaging	Het
Efcab3	A	G	11: 104,967,286 (GRCm39)	I5275M	possibly damaging	Het
Epha6	A	G	16: 59,775,083 (GRCm39)	L711P	probably damaging	Het
Gabrg2	T	A	11: 41,867,385 (GRCm39)	N78I	probably damaging	Het
H1f1	C	T	13: 23,948,085 (GRCm39)		probably benign	Het
Htra3	T	C	5: 35,821,420 (GRCm39)	D319G	probably damaging	Het
Jph1	T	C	1: 17,161,750 (GRCm39)	Y304C	probably damaging	Het
Kat2a	G	T	11: 100,602,996 (GRCm39)	Q79K	possibly damaging	Het
Klhl7	C	T	5: 24,332,748 (GRCm39)	A102V	probably benign	Het
Lamb3	A	G	1: 193,012,501 (GRCm39)	H426R	probably benign	Het
Lemd3	C	A	10: 120,788,161 (GRCm39)		probably null	Het
Mcm3ap	A	C	10: 76,306,760 (GRCm39)	D291A	possibly damaging	Het
Micos13	G	A	17: 56,916,649 (GRCm39)	S7L	possibly damaging	Het
Mme	C	G	3: 63,276,375 (GRCm39)	F717L	probably damaging	Het
Mybpc2	T	A	7: 44,169,806 (GRCm39)	K171*	probably null	Het
Naip6	T	C	13: 100,420,290 (GRCm39)	N1327D	probably benign	Het
Nr2e1	A	T	10: 42,447,487 (GRCm39)	M175K	probably benign	Het
Or8a1b	A	T	9: 37,622,981 (GRCm39)	V198D	possibly damaging	Het
Or8s5	G	A	15: 98,238,246 (GRCm39)	A208V	probably benign	Het
Ppef2	A	T	5: 92,383,670 (GRCm39)	M480K	probably benign	Het
Prkar2b	A	T	12: 32,110,984 (GRCm39)	L33Q	probably damaging	Het
Ralgps2	A	T	1: 156,641,067 (GRCm39)	V496E	probably damaging	Het
Rbms2	G	A	10: 127,981,606 (GRCm39)	P81L	probably damaging	Het
Scara5	T	C	14: 65,927,264 (GRCm39)	S54P	possibly damaging	Het
Slc18a3	T	C	14: 32,184,814 (GRCm39)	D523G	probably benign	Het
Sntb1	C	G	15: 55,506,191 (GRCm39)	G461R	probably damaging	Het
Srrt	C	A	5: 137,294,813 (GRCm39)	A747S	probably benign	Het
Sycp2	C	T	2: 177,998,296 (GRCm39)	D1075N	probably benign	Het
Tasor	A	G	14: 27,193,992 (GRCm39)	D1064G	possibly damaging	Het
Vat1l	G	A	8: 115,011,088 (GRCm39)	V279I	probably damaging	Het
Zfp677	A	G	17: 21,617,410 (GRCm39)	K156E	probably damaging	Het

Other mutations in Cmss1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00662:Cmss1	APN	16	57,124,092 (GRCm39)	missense	probably damaging	0.99
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
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

Predicted Primers

PCR Primer
(F):5'- ACAGTTGTCAAAGAATCCCCTC -3'
(R):5'- ACTCATGTTTTGCGCAGTACC -3'

Sequencing Primer
(F):5'- TTGTCAAAGAATCCCCTCGAGGC -3'
(R):5'- ATGTTTTGCGCAGTACCTCTCTC -3'

Posted On

2016-07-22