Incidental Mutation 'R0825:Mtx3'
ID78194
Institutional Source Beutler Lab
Gene Symbol Mtx3
Ensembl Gene ENSMUSG00000021704
Gene Namemetaxin 3
SynonymsLOC382793, 4930470O13Rik, Gm6514
MMRRC Submission 039005-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.089) question?
Stock #R0825 (G1)
Quality Score225
Status Validated
Chromosome13
Chromosomal Location92844760-92858230 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 92850341 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Lysine at position 264 (T264K)
Ref Sequence ENSEMBL: ENSMUSP00000075526 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076169]
Predicted Effect probably damaging
Transcript: ENSMUST00000076169
AA Change: T264K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000075526
Gene: ENSMUSG00000021704
AA Change: T264K

DomainStartEndE-ValueType
Pfam:Tom37 7 74 3.9e-14 PFAM
Pfam:Tom37_C 94 169 4e-13 PFAM
Pfam:GST_C_2 146 240 2.8e-9 PFAM
Pfam:GST_C_3 159 238 7.7e-12 PFAM
low complexity region 285 299 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223719
Predicted Effect probably benign
Transcript: ENSMUST00000224368
Meta Mutation Damage Score 0.2722 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 96.4%
  • 20x: 91.4%
Validation Efficiency 98% (46/47)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,400,577 I963N probably damaging Het
AF529169 G A 9: 89,603,279 Q22* probably null Het
Aox4 A G 1: 58,248,909 D727G possibly damaging Het
Arhgef26 T A 3: 62,426,593 I590N probably damaging Het
Arid1b T G 17: 5,342,178 C1994W probably damaging Het
Chd9 T C 8: 91,051,197 I2628T probably benign Het
Clspn G A 4: 126,573,130 probably benign Het
Cyp2a4 A T 7: 26,312,916 T375S probably benign Het
Dmtf1 A T 5: 9,130,388 M226K probably damaging Het
Erap1 T C 13: 74,674,614 probably benign Het
Frmpd1 A G 4: 45,285,394 D1405G possibly damaging Het
Gfm2 A T 13: 97,143,104 probably benign Het
Ghsr T C 3: 27,374,627 V267A probably damaging Het
Golga2 A C 2: 32,304,791 Q650P probably damaging Het
Hmgcl A G 4: 135,960,070 T219A probably benign Het
Ift27 C A 15: 78,165,136 probably benign Het
Igfn1 C T 1: 135,963,126 E2379K probably damaging Het
Iqca C A 1: 90,142,731 G133V probably null Het
Kpnb1 A T 11: 97,171,675 S421R probably damaging Het
Nrg3 G A 14: 39,472,391 P137L possibly damaging Het
Nt5c2 A G 19: 46,898,905 probably benign Het
Olfr1391 T A 11: 49,327,682 H90Q probably benign Het
Olfr199 G T 16: 59,216,450 H54Q possibly damaging Het
Pcdhb2 G A 18: 37,295,657 V228I possibly damaging Het
Pdcd5 G A 7: 35,646,913 R91W possibly damaging Het
Pxdn G A 12: 29,984,996 probably benign Het
Rgl2 T A 17: 33,935,159 probably null Het
Rnf217 T C 10: 31,517,457 D376G probably damaging Het
Sept9 C T 11: 117,359,460 L519F probably damaging Het
Slc15a5 C T 6: 138,018,089 C386Y possibly damaging Het
Srrm4 T A 5: 116,453,713 I256F unknown Het
Stab1 G T 14: 31,152,600 D950E probably benign Het
Stim2 A G 5: 54,118,483 T667A probably benign Het
Strbp A T 2: 37,635,527 N144K probably benign Het
Sync A G 4: 129,293,397 Y74C probably benign Het
Terb1 A T 8: 104,468,748 M587K possibly damaging Het
Tgfbi T C 13: 56,638,710 probably benign Het
Tmf1 A T 6: 97,175,995 N372K probably benign Het
Ubr4 G T 4: 139,479,576 probably null Het
Uggt1 A T 1: 36,158,143 N1226K probably benign Het
Ugt2b34 T C 5: 86,906,701 I74V possibly damaging Het
Wdfy3 A G 5: 101,870,051 L2541P probably damaging Het
Zfhx3 T G 8: 108,949,208 F2297V probably damaging Het
Other mutations in Mtx3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00574:Mtx3 APN 13 92847876 missense possibly damaging 0.94
IGL03341:Mtx3 APN 13 92847883 missense probably damaging 0.96
R0715:Mtx3 UTSW 13 92850361 missense probably damaging 1.00
R1888:Mtx3 UTSW 13 92847683 missense probably benign
R1888:Mtx3 UTSW 13 92847683 missense probably benign
R2209:Mtx3 UTSW 13 92847604 missense probably benign 0.02
R5724:Mtx3 UTSW 13 92847587 missense probably damaging 1.00
R6198:Mtx3 UTSW 13 92852851 missense probably benign 0.30
R8226:Mtx3 UTSW 13 92847707 missense possibly damaging 0.72
Predicted Primers PCR Primer
(F):5'- ACTTTCCCCTTGAGCCCAAAATGG -3'
(R):5'- GCAAGGCTTGCTTCTGACTTGCTG -3'

Sequencing Primer
(F):5'- AGCCCAAAATGGGTTTTTCTC -3'
(R):5'- AAGGCAATGTTTGTGTCACCC -3'
Posted On2013-10-16