Incidental Mutation 'IGL02541:Cmc2'
ID 298253
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cmc2
Ensembl Gene ENSMUSG00000014633
Gene Name C-X9-C motif containing 2
Synonyms 1110046L09Rik, 2310061C15Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.152) question?
Stock # IGL02541
Quality Score
Status
Chromosome 8
Chromosomal Location 117615424-117648194 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 117620883 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 33 (F33L)
Ref Sequence ENSEMBL: ENSMUSP00000120966 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078589] [ENSMUST00000128304] [ENSMUST00000131616] [ENSMUST00000148235] [ENSMUST00000150128]
AlphaFold Q8K199
Predicted Effect probably benign
Transcript: ENSMUST00000078589
SMART Domains Protein: ENSMUSP00000077663
Gene: ENSMUSG00000014633

DomainStartEndE-ValueType
Pfam:Cmc1 1 35 2.2e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128304
SMART Domains Protein: ENSMUSP00000120919
Gene: ENSMUSG00000014633

DomainStartEndE-ValueType
Pfam:Cmc1 1 43 2.5e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131616
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134356
Predicted Effect probably benign
Transcript: ENSMUST00000148235
AA Change: F33L

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000120966
Gene: ENSMUSG00000014633
AA Change: F33L

DomainStartEndE-ValueType
Pfam:Cmc1 1 71 5.3e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000150128
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155260
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A T 7: 120,113,881 (GRCm39) L917F possibly damaging Het
Abca6 A T 11: 110,103,093 (GRCm39) W833R probably damaging Het
Asb15 T A 6: 24,566,265 (GRCm39) V406D probably damaging Het
Bcl9l T C 9: 44,419,066 (GRCm39) V968A probably benign Het
Bend7 T C 2: 4,768,116 (GRCm39) probably null Het
Cadm2 C A 16: 66,679,770 (GRCm39) G21V possibly damaging Het
Cadm2 C A 16: 66,679,771 (GRCm39) probably null Het
Camta1 G A 4: 151,169,112 (GRCm39) T1191I probably benign Het
Cep152 C T 2: 125,447,274 (GRCm39) A425T probably damaging Het
Cep95 C A 11: 106,706,407 (GRCm39) Q554K probably damaging Het
Cgref1 A G 5: 31,091,502 (GRCm39) probably null Het
Clock T A 5: 76,410,519 (GRCm39) probably null Het
Cnksr3 A G 10: 7,085,073 (GRCm39) V258A probably damaging Het
Col6a6 G T 9: 105,609,415 (GRCm39) N1624K probably benign Het
Cped1 T C 6: 22,120,988 (GRCm39) I356T probably benign Het
Dpy19l2 C T 9: 24,569,943 (GRCm39) V337I probably benign Het
E2f3 A T 13: 30,100,827 (GRCm39) probably null Het
Eif1ad A G 19: 5,418,445 (GRCm39) probably benign Het
Fam114a2 A T 11: 57,390,627 (GRCm39) D302E probably benign Het
Fign T C 2: 63,809,881 (GRCm39) N463S probably benign Het
Fzr1 T C 10: 81,205,867 (GRCm39) T220A probably damaging Het
Gm14496 G A 2: 181,642,186 (GRCm39) R619Q probably benign Het
Gm9966 T C 7: 95,607,991 (GRCm39) I104T unknown Het
Itgb7 G T 15: 102,131,892 (GRCm39) H230Q probably benign Het
Kif7 T C 7: 79,360,628 (GRCm39) H249R possibly damaging Het
Krtap4-2 T G 11: 99,525,792 (GRCm39) Q20P unknown Het
Mis18bp1 T C 12: 65,208,234 (GRCm39) T160A probably damaging Het
Mrps9 T C 1: 42,901,814 (GRCm39) probably null Het
Mynn T A 3: 30,665,752 (GRCm39) H461Q probably damaging Het
Naa25 A G 5: 121,562,594 (GRCm39) T459A possibly damaging Het
Niban3 A T 8: 72,055,426 (GRCm39) T279S probably benign Het
Notch1 C T 2: 26,358,515 (GRCm39) D1439N probably benign Het
Or2ag2b A G 7: 106,417,809 (GRCm39) E173G probably benign Het
Pals2 A G 6: 50,160,707 (GRCm39) I323V probably benign Het
Pcdhb3 A T 18: 37,435,198 (GRCm39) D388V probably damaging Het
Pold3 C T 7: 99,732,879 (GRCm39) G417S probably damaging Het
Pwwp3a G A 10: 80,064,273 (GRCm39) probably null Het
Rad17 A G 13: 100,769,951 (GRCm39) probably benign Het
Sh3glb1 T C 3: 144,425,801 (GRCm39) D5G probably damaging Het
Shank3 T A 15: 89,385,613 (GRCm39) Y167N probably damaging Het
Slc3a2 A T 19: 8,685,123 (GRCm39) Y292* probably null Het
Slc7a13 T A 4: 19,839,212 (GRCm39) probably benign Het
Snx18 A T 13: 113,731,302 (GRCm39) I564N probably damaging Het
Supt6 G A 11: 78,117,744 (GRCm39) R491C probably damaging Het
Tanc1 G T 2: 59,663,602 (GRCm39) G1120C probably damaging Het
Tnrc6b C A 15: 80,764,032 (GRCm39) D511E probably benign Het
Trio A G 15: 27,845,016 (GRCm39) probably benign Het
Trmt12 T A 15: 58,745,651 (GRCm39) W350R probably benign Het
Ttc1 T C 11: 43,629,648 (GRCm39) T173A probably benign Het
Ttc39d C A 17: 80,523,875 (GRCm39) T178K probably damaging Het
Ufl1 T A 4: 25,250,534 (GRCm39) E693V possibly damaging Het
Vamp2 G T 11: 68,979,977 (GRCm39) E16D unknown Het
Vmn2r-ps158 T A 7: 42,673,092 (GRCm39) probably benign Het
Wdr70 C T 15: 7,913,783 (GRCm39) W622* probably null Het
Zfp28 C T 7: 6,396,479 (GRCm39) Q305* probably null Het
Zfp653 C A 9: 21,967,079 (GRCm39) R602L probably damaging Het
Zzef1 T A 11: 72,763,475 (GRCm39) V1374E probably damaging Het
Other mutations in Cmc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1242:Cmc2 UTSW 8 117,637,937 (GRCm39) missense probably damaging 1.00
R4837:Cmc2 UTSW 8 117,620,879 (GRCm39) missense probably damaging 0.98
R6084:Cmc2 UTSW 8 117,616,566 (GRCm39) utr 3 prime probably benign
R6327:Cmc2 UTSW 8 117,620,896 (GRCm39) missense probably damaging 1.00
R7680:Cmc2 UTSW 8 117,620,849 (GRCm39) missense probably damaging 1.00
R7939:Cmc2 UTSW 8 117,616,513 (GRCm39) missense unknown
R7992:Cmc2 UTSW 8 117,616,446 (GRCm39) nonsense probably null
R8951:Cmc2 UTSW 8 117,637,904 (GRCm39) missense probably damaging 1.00
R9454:Cmc2 UTSW 8 117,616,550 (GRCm39) missense unknown
Posted On 2015-04-16