Incidental Mutation 'R1231:Cmss1'
ID 152305
Institutional Source Beutler Lab
Gene Symbol Cmss1
Ensembl Gene ENSMUSG00000022748
Gene Name cms small ribosomal subunit 1
Synonyms 1110001A06Rik, 2610528E23Rik, 4930572F24Rik
MMRRC Submission 039300-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R1231 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 57122363-57427227 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 57136560 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 104 (R104H)
Ref Sequence ENSEMBL: ENSMUSP00000110011 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114371]
AlphaFold Q9CZT6
Predicted Effect probably benign
Transcript: ENSMUST00000114371
AA Change: R104H

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000110011
Gene: ENSMUSG00000022748
AA Change: R104H

DomainStartEndE-ValueType
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: 99.2%
  • 3x: 98.3%
  • 10x: 96.0%
  • 20x: 91.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ascc3 C T 10: 50,699,756 (GRCm39) P1860S probably damaging Het
Cabp5 T C 7: 13,139,350 (GRCm39) I125T probably damaging Het
Ccnd2 A T 6: 127,107,363 (GRCm39) S269T probably benign Het
Dock9 A T 14: 121,813,362 (GRCm39) M1522K possibly damaging Het
Fcrl5 A G 3: 87,349,486 (GRCm39) H87R probably benign Het
Gabrr3 G A 16: 59,281,763 (GRCm39) D373N probably benign Het
Gm21738 T A 14: 19,415,957 (GRCm38) Y194F probably benign Het
Gm21738 T C 14: 19,415,963 (GRCm38) K192R probably benign Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Itgae C T 11: 73,010,205 (GRCm39) T565I probably benign Het
Mocos G T 18: 24,812,758 (GRCm39) A551S probably benign Het
Mtmr9 A T 14: 63,765,640 (GRCm39) N418K possibly damaging Het
Mtus2 T A 5: 148,014,198 (GRCm39) S330R probably benign Het
Or2t1 A T 14: 14,328,515 (GRCm38) M135L probably benign Het
Psg16 T A 7: 16,829,230 (GRCm39) Y271* probably null Het
Psmd2 T A 16: 20,474,335 (GRCm39) M297K possibly damaging Het
Rnf220 A T 4: 117,347,081 (GRCm39) S110R probably damaging Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
St8sia5 T C 18: 77,320,502 (GRCm39) Y49H probably damaging Het
Umodl1 A G 17: 31,178,252 (GRCm39) Y76C probably damaging Het
Urm1 G T 2: 29,722,711 (GRCm39) A15S probably damaging Het
Other mutations in Cmss1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- CAAGGATTAAGAGTGTGTGCGTGGA -3'
(R):5'- CAGGGAGCCCGCTAGAGCA -3'

Sequencing Primer
(F):5'- CGTGGAAAAGGGATACATTTTCAAC -3'
(R):5'- AGCACTCACTATGTCATGAGG -3'
Posted On 2014-01-29