Incidental Mutation 'IGL02147:Msx3'
ID 281830
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Msx3
Ensembl Gene ENSMUSG00000025469
Gene Name msh homeobox 3
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02147
Quality Score
Status
Chromosome 7
Chromosomal Location 139626070-139629001 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 139628798 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 39 (V39L)
Ref Sequence ENSEMBL: ENSMUSP00000057312 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055353] [ENSMUST00000172775]
AlphaFold P70354
Predicted Effect possibly damaging
Transcript: ENSMUST00000055353
AA Change: V39L

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000172775
AA Change: V39L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000133484
Gene: ENSMUSG00000025469
AA Change: V39L

DomainStartEndE-ValueType
low complexity region 68 79 N/A INTRINSIC
HOX 87 149 1.39e-25 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700021P04Rik T C 19: 24,042,327 (GRCm39) noncoding transcript Het
Acadsb T A 7: 131,027,610 (GRCm39) probably benign Het
Ambra1 A G 2: 91,598,064 (GRCm39) H75R probably benign Het
Arhgef28 T A 13: 98,097,822 (GRCm39) I931F probably damaging Het
Cdk5 T C 5: 24,625,318 (GRCm39) N165D probably benign Het
Col4a2 A T 8: 11,458,140 (GRCm39) Y272F probably benign Het
Csde1 T A 3: 102,947,250 (GRCm39) D67E probably damaging Het
Dhx34 T C 7: 15,937,928 (GRCm39) H724R probably benign Het
Dhx57 T C 17: 80,567,752 (GRCm39) D777G possibly damaging Het
Fat3 A C 9: 15,907,281 (GRCm39) V2907G probably damaging Het
Fst T C 13: 114,590,896 (GRCm39) Y290C probably damaging Het
Ighg2b A T 12: 113,270,011 (GRCm39) *336R probably null Het
Igkv4-92 C T 6: 68,732,236 (GRCm39) S46N probably damaging Het
Kdm2b C T 5: 123,085,898 (GRCm39) E238K probably damaging Het
Lgalsl2 T A 7: 5,362,732 (GRCm39) I121N probably damaging Het
Lmtk2 A G 5: 144,093,754 (GRCm39) M244V possibly damaging Het
Mcoln1 T C 8: 3,558,379 (GRCm39) F211S probably benign Het
Mib2 C A 4: 155,742,144 (GRCm39) R209L probably benign Het
Mtnr1b A G 9: 15,774,672 (GRCm39) F129S probably damaging Het
Nr3c2 A G 8: 77,635,696 (GRCm39) S266G probably damaging Het
Nup160 G T 2: 90,534,285 (GRCm39) L703F probably benign Het
Or10c1 T A 17: 37,521,877 (GRCm39) Y289F probably damaging Het
Or5t5 A G 2: 86,616,494 (GRCm39) N140S probably benign Het
Pcyt1a T A 16: 32,280,916 (GRCm39) N105K probably damaging Het
Pdhx A G 2: 102,860,686 (GRCm39) probably benign Het
Qpct T C 17: 79,378,145 (GRCm39) V105A probably damaging Het
Ros1 A C 10: 51,996,991 (GRCm39) F1227C probably damaging Het
Rrp12 A T 19: 41,874,620 (GRCm39) V342E probably damaging Het
Sart3 A G 5: 113,901,004 (GRCm39) probably benign Het
Slc6a18 T A 13: 73,816,281 (GRCm39) K366M probably damaging Het
Smarca4 A G 9: 21,546,999 (GRCm39) N175D probably damaging Het
Sox14 T C 9: 99,757,598 (GRCm39) K47R probably damaging Het
Trcg1 A T 9: 57,153,132 (GRCm39) I592F probably benign Het
Ush2a T C 1: 188,596,900 (GRCm39) M3880T probably benign Het
Usp20 T C 2: 30,896,413 (GRCm39) F172S probably damaging Het
Vmn2r4 C T 3: 64,305,782 (GRCm39) probably benign Het
Other mutations in Msx3
AlleleSourceChrCoordTypePredicted EffectPPH Score
G1patch:Msx3 UTSW 7 139,628,659 (GRCm39) intron probably benign
R4735:Msx3 UTSW 7 139,627,798 (GRCm39) missense probably damaging 0.99
R5790:Msx3 UTSW 7 139,628,866 (GRCm39) missense possibly damaging 0.94
R6725:Msx3 UTSW 7 139,628,659 (GRCm39) intron probably benign
R8085:Msx3 UTSW 7 139,627,998 (GRCm39) missense unknown
R8512:Msx3 UTSW 7 139,628,884 (GRCm39) missense probably benign 0.10
R8681:Msx3 UTSW 7 139,628,900 (GRCm39) missense probably benign
Posted On 2015-04-16