Incidental Mutation 'IGL01705:Mettl7b'
ID 104570
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mettl7b
Ensembl Gene ENSMUSG00000025347
Gene Name methyltransferase like 7B
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01705
Quality Score
Status
Chromosome 10
Chromosomal Location 128958274-128960988 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 128958862 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 198 (I198F)
Ref Sequence ENSEMBL: ENSMUSP00000026398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026398] [ENSMUST00000099112] [ENSMUST00000218290]
AlphaFold Q9DD20
Predicted Effect probably benign
Transcript: ENSMUST00000026398
AA Change: I198F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000026398
Gene: ENSMUSG00000025347
AA Change: I198F

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Ubie_methyltran 40 193 2.8e-9 PFAM
Pfam:Methyltransf_23 43 222 5.5e-20 PFAM
Pfam:Methyltransf_31 68 225 1.6e-15 PFAM
Pfam:Methyltransf_18 71 175 4.6e-10 PFAM
Pfam:Methyltransf_25 74 168 2.3e-10 PFAM
Pfam:Methyltransf_12 75 170 8.8e-16 PFAM
Pfam:Methyltransf_11 75 172 1.9e-22 PFAM
Pfam:Methyltransf_8 120 192 3.8e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000099112
SMART Domains Protein: ENSMUSP00000096712
Gene: ENSMUSG00000025348

DomainStartEndE-ValueType
Int_alpha 48 110 4.11e-6 SMART
Int_alpha 259 312 3.72e-4 SMART
Int_alpha 316 372 1.16e-14 SMART
Int_alpha 377 430 9.21e-18 SMART
Int_alpha 435 490 4.38e-1 SMART
low complexity region 510 523 N/A INTRINSIC
SCOP:d1m1xa3 807 1039 6e-50 SMART
low complexity region 1041 1058 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000218290
Predicted Effect probably benign
Transcript: ENSMUST00000219427
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219897
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 A G 18: 59,032,966 T1077A possibly damaging Het
Akap13 T C 7: 75,746,767 V2504A possibly damaging Het
Anks3 A T 16: 4,947,723 W172R probably benign Het
Asap2 T A 12: 21,249,368 N633K possibly damaging Het
Astn1 A T 1: 158,504,313 S326C probably damaging Het
Cachd1 A G 4: 100,983,539 K900E possibly damaging Het
Cd5 A T 19: 10,726,295 probably null Het
D130043K22Rik T A 13: 24,857,941 N284K probably benign Het
Dtna C T 18: 23,545,731 A38V probably damaging Het
Eny2 C A 15: 44,432,435 probably null Het
Grm5 A G 7: 88,130,046 Q930R possibly damaging Het
Igkv4-73 A T 6: 69,197,725 noncoding transcript Het
Lama2 A T 10: 27,189,274 probably benign Het
Lipg A G 18: 74,947,971 probably null Het
Neto2 T C 8: 85,641,003 K371E probably damaging Het
Olfr965 T C 9: 39,719,581 M118T possibly damaging Het
Paxbp1 A G 16: 91,016,988 F834L probably benign Het
Paxip1 A T 5: 27,748,859 S946R probably damaging Het
Pclo A G 5: 14,677,865 probably benign Het
Plcg2 T C 8: 117,581,662 L331P probably damaging Het
Reep1 A G 6: 71,773,288 T95A probably damaging Het
Rfx2 A G 17: 56,785,303 Y332H possibly damaging Het
Smchd1 A T 17: 71,381,398 D1288E probably damaging Het
Spag17 A G 3: 100,022,730 M582V probably benign Het
Susd1 A G 4: 59,332,931 probably benign Het
Syt9 T G 7: 107,436,352 L192R probably damaging Het
Tlr6 T C 5: 64,954,130 K478R probably benign Het
Tmem115 G T 9: 107,535,204 L242F probably benign Het
Tnfaip1 T C 11: 78,525,468 D263G probably benign Het
Ubqln3 T A 7: 104,142,677 I69F probably damaging Het
Vps52 T C 17: 33,966,068 L712P probably damaging Het
Other mutations in Mettl7b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02157:Mettl7b APN 10 128960617 missense possibly damaging 0.82
R1392:Mettl7b UTSW 10 128960698 missense possibly damaging 0.90
R1392:Mettl7b UTSW 10 128960698 missense possibly damaging 0.90
R2210:Mettl7b UTSW 10 128958722 missense probably damaging 1.00
R4684:Mettl7b UTSW 10 128960702 nonsense probably null
R5075:Mettl7b UTSW 10 128960680 missense probably damaging 1.00
R8686:Mettl7b UTSW 10 128960607 missense possibly damaging 0.96
R9327:Mettl7b UTSW 10 128958738 missense probably benign 0.30
Z1176:Mettl7b UTSW 10 128958748 missense probably damaging 1.00
Posted On 2014-01-21