Incidental Mutation 'R0907:Gm45713'
ID 83359
Institutional Source Beutler Lab
Gene Symbol Gm45713
Ensembl Gene ENSMUSG00000089989
Gene Name predicted gene 45713
Synonyms
MMRRC Submission 039065-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0907 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 44775346-44785655 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 44781788 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 203 (T203M)
Ref Sequence ENSEMBL: ENSMUSP00000147468 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000146760] [ENSMUST00000150350] [ENSMUST00000209212] [ENSMUST00000209238] [ENSMUST00000209467] [ENSMUST00000209927] [ENSMUST00000209711] [ENSMUST00000209815] [ENSMUST00000209812] [ENSMUST00000210197] [ENSMUST00000211429] [ENSMUST00000210967] [ENSMUST00000210918] [ENSMUST00000210818] [ENSMUST00000211246] [ENSMUST00000211037] [ENSMUST00000210191]
AlphaFold no structure available at present
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083285
Predicted Effect possibly damaging
Transcript: ENSMUST00000125500
AA Change: T201M

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000119175
Gene: ENSMUSG00000089989
AA Change: T201M

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:Flt3_lig 30 161 2.5e-63 PFAM
transmembrane domain 210 232 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000146760
AA Change: T180M

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000123506
Gene: ENSMUSG00000110206
AA Change: T180M

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:Flt3_lig 28 162 1.9e-94 PFAM
transmembrane domain 189 211 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000150350
SMART Domains Protein: ENSMUSP00000115722
Gene: ENSMUSG00000074129

DomainStartEndE-ValueType
Pfam:Ribosomal_L13 6 122 7e-27 PFAM
low complexity region 169 180 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000209212
Predicted Effect possibly damaging
Transcript: ENSMUST00000209238
AA Change: T180M

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000209467
AA Change: T203M

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210175
Predicted Effect probably benign
Transcript: ENSMUST00000209927
Predicted Effect probably benign
Transcript: ENSMUST00000209612
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210134
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210073
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209626
Predicted Effect probably benign
Transcript: ENSMUST00000209711
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209965
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210083
Predicted Effect probably benign
Transcript: ENSMUST00000209815
Predicted Effect probably benign
Transcript: ENSMUST00000209812
Predicted Effect possibly damaging
Transcript: ENSMUST00000210197
AA Change: T224M

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000211429
AA Change: T203M

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000210967
Predicted Effect probably benign
Transcript: ENSMUST00000210918
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210612
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211542
Predicted Effect probably benign
Transcript: ENSMUST00000210818
Predicted Effect probably benign
Transcript: ENSMUST00000211246
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210832
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211503
Predicted Effect probably benign
Transcript: ENSMUST00000211037
Predicted Effect probably benign
Transcript: ENSMUST00000210191
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211438
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 100% (34/34)
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl2 G A 1: 156,457,429 (GRCm39) V225M probably damaging Het
Afmid T A 11: 117,726,416 (GRCm39) probably benign Het
Ccdc191 G A 16: 43,735,901 (GRCm39) V216I probably benign Het
Cep112 C A 11: 108,461,258 (GRCm39) probably benign Het
Dcbld1 T C 10: 52,137,910 (GRCm39) V58A possibly damaging Het
Dop1b A T 16: 93,598,481 (GRCm39) H1882L probably damaging Het
Fat1 A G 8: 45,479,635 (GRCm39) I2894V probably benign Het
Focad T C 4: 88,196,498 (GRCm39) probably null Het
Gstm1 T C 3: 107,924,696 (GRCm39) Y28C probably damaging Het
Gucy1a1 T C 3: 82,018,498 (GRCm39) D113G probably benign Het
Hat1 G T 2: 71,250,961 (GRCm39) E170* probably null Het
Herc1 C A 9: 66,340,710 (GRCm39) F1686L possibly damaging Het
Iffo1 A G 6: 125,130,124 (GRCm39) E270G probably null Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Lrp3 A T 7: 34,902,718 (GRCm39) Y522N probably damaging Het
Lrp6 A T 6: 134,484,488 (GRCm39) D378E probably damaging Het
Mmrn1 A G 6: 60,950,103 (GRCm39) N351S probably benign Het
Or1e16 A T 11: 73,285,945 (GRCm39) L301Q probably damaging Het
Or9q1 T C 19: 13,805,220 (GRCm39) D180G probably damaging Het
Pcnx3 T C 19: 5,721,553 (GRCm39) K1082E possibly damaging Het
Pikfyve T C 1: 65,241,989 (GRCm39) V243A possibly damaging Het
Qdpr G C 5: 45,596,728 (GRCm39) I145M probably benign Het
Rasgrp3 G T 17: 75,816,822 (GRCm39) probably null Het
Rd3l G T 12: 111,946,574 (GRCm39) Y1* probably null Het
Sf3b3 A G 8: 111,538,142 (GRCm39) probably benign Het
Smn1 C T 13: 100,264,404 (GRCm39) T45I probably damaging Het
Sprr3 A T 3: 92,364,316 (GRCm39) I176N probably benign Het
Sv2c T C 13: 96,224,763 (GRCm39) D182G probably damaging Het
Tnni3k A T 3: 154,647,316 (GRCm39) V397D probably damaging Het
Trpt1 G T 19: 6,976,308 (GRCm39) G235V possibly damaging Het
Ttll10 A T 4: 156,120,621 (GRCm39) C367* probably null Het
Unc5c A G 3: 141,494,794 (GRCm39) Q369R probably damaging Het
Other mutations in Gm45713
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0178:Gm45713 UTSW 7 44,783,882 (GRCm39) missense probably damaging 1.00
R7682:Gm45713 UTSW 7 44,783,426 (GRCm39) missense probably benign 0.20
R8429:Gm45713 UTSW 7 44,785,540 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TGGAAGACTCACCGAGATAAGACCC -3'
(R):5'- GTTAATAGGCTCCTCATGAACCACCC -3'

Sequencing Primer
(F):5'- GCTGAGTCAACGATGCAC -3'
(R):5'- CATCACCCGTATTCTCCAGGAC -3'
Posted On 2013-11-08