Incidental Mutation 'R5701:Mex3d'
ID 450897
Institutional Source Beutler Lab
Gene Symbol Mex3d
Ensembl Gene ENSMUSG00000048696
Gene Name mex3 RNA binding family member D
Synonyms Rkhd1
MMRRC Submission 043181-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.257) question?
Stock # R5701 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 80216189-80223485 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 80217379 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 613 (T613A)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105350]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000062946
AA Change: T613A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000057962
Gene: ENSMUSG00000048696
AA Change: T613A

DomainStartEndE-ValueType
low complexity region 5 27 N/A INTRINSIC
low complexity region 30 65 N/A INTRINSIC
internal_repeat_1 88 132 4.63e-12 PROSPERO
internal_repeat_1 130 174 4.63e-12 PROSPERO
low complexity region 185 201 N/A INTRINSIC
KH 232 300 6.8e-10 SMART
KH 327 394 4.45e-14 SMART
low complexity region 463 495 N/A INTRINSIC
low complexity region 570 585 N/A INTRINSIC
low complexity region 606 631 N/A INTRINSIC
low complexity region 642 664 N/A INTRINSIC
RING 667 706 7.34e-3 SMART
Predicted Effect unknown
Transcript: ENSMUST00000105350
AA Change: T613A
SMART Domains Protein: ENSMUSP00000100987
Gene: ENSMUSG00000048696
AA Change: T613A

DomainStartEndE-ValueType
internal_repeat_2 3 25 3.12e-8 PROSPERO
internal_repeat_1 5 34 7.48e-13 PROSPERO
internal_repeat_1 41 70 7.48e-13 PROSPERO
internal_repeat_2 51 73 3.12e-8 PROSPERO
low complexity region 78 94 N/A INTRINSIC
KH 125 193 6.8e-10 SMART
KH 220 287 4.45e-14 SMART
low complexity region 356 388 N/A INTRINSIC
low complexity region 463 478 N/A INTRINSIC
low complexity region 499 524 N/A INTRINSIC
low complexity region 535 557 N/A INTRINSIC
RING 560 599 7.34e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122709
Predicted Effect unknown
Transcript: ENSMUST00000123141
AA Change: T148A
SMART Domains Protein: ENSMUSP00000115410
Gene: ENSMUSG00000048696
AA Change: T148A

DomainStartEndE-ValueType
low complexity region 2 31 N/A INTRINSIC
low complexity region 106 121 N/A INTRINSIC
low complexity region 142 167 N/A INTRINSIC
low complexity region 178 200 N/A INTRINSIC
RING 203 242 7.34e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218129
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Armc8 A G 9: 99,378,202 (GRCm39) probably null Het
Asxl1 A G 2: 153,241,409 (GRCm39) E653G probably damaging Het
AW551984 G A 9: 39,504,118 (GRCm39) A616V probably benign Het
Birc6 T C 17: 75,004,420 (GRCm39) M4763T possibly damaging Het
Bltp1 T A 3: 36,975,509 (GRCm39) M727K probably benign Het
Cand2 T G 6: 115,774,893 (GRCm39) F1034V probably damaging Het
Ccdc80 T C 16: 44,936,741 (GRCm39) V722A possibly damaging Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Chrnd G A 1: 87,125,380 (GRCm39) V340I possibly damaging Het
Clip1 T C 5: 123,751,366 (GRCm39) probably benign Het
Csmd3 T C 15: 47,513,617 (GRCm39) E1920G probably damaging Het
Csmd3 A T 15: 48,403,729 (GRCm39) F194I probably damaging Het
D930048N14Rik T A 11: 51,544,556 (GRCm39) probably null Het
Defa28 T C 8: 22,073,863 (GRCm39) Y89H probably benign Het
Dnah1 C T 14: 30,996,001 (GRCm39) G2705E probably damaging Het
Eci2 A T 13: 35,174,250 (GRCm39) S104T possibly damaging Het
Ep300 T C 15: 81,485,696 (GRCm39) S228P unknown Het
Gabrb2 T A 11: 42,378,201 (GRCm39) M139K probably damaging Het
Gbp4 T A 5: 105,266,265 (GRCm39) N592I possibly damaging Het
Gpr158 C T 2: 21,751,520 (GRCm39) R480C probably damaging Het
Gps1 A G 11: 120,676,008 (GRCm39) D71G probably benign Het
Hoxc9 T C 15: 102,890,313 (GRCm39) Y77H possibly damaging Het
Il9r T A 11: 32,143,263 (GRCm39) Y231F probably benign Het
Klhl1 A G 14: 96,438,816 (GRCm39) M494T probably benign Het
Kmt2c A G 5: 25,519,015 (GRCm39) V2365A probably benign Het
Kri1 T A 9: 21,192,425 (GRCm39) K241M possibly damaging Het
Macf1 A T 4: 123,397,018 (GRCm39) C928S probably damaging Het
Mcm2 T C 6: 88,870,073 (GRCm39) D32G probably damaging Het
Mptx2 G A 1: 173,102,414 (GRCm39) L92F probably benign Het
Myh9 T C 15: 77,675,964 (GRCm39) I241V probably benign Het
Myo6 C T 9: 80,165,809 (GRCm39) T398I probably damaging Het
Nckap1l G A 15: 103,381,195 (GRCm39) A366T probably benign Het
Or5m11 A G 2: 85,782,168 (GRCm39) T254A possibly damaging Het
Plscr5 A T 9: 92,087,564 (GRCm39) K178* probably null Het
Rapgef6 T C 11: 54,567,220 (GRCm39) W857R possibly damaging Het
Raxos1 G A 18: 66,071,059 (GRCm39) probably benign Het
Rnf145 G A 11: 44,422,120 (GRCm39) V68M possibly damaging Het
Slc66a2 T A 18: 80,315,693 (GRCm39) D118E possibly damaging Het
Synpo2 C G 3: 122,873,879 (GRCm39) G1029A probably damaging Het
Tbc1d5 TTGCTGCTGCTGCTGCTGCTGGTGCTGCTGCTGCTG TTGCTGCTGCTGCTGCTGGTGCTGCTGCTGCTG 17: 51,106,983 (GRCm39) probably benign Het
Vmn2r14 T C 5: 109,367,816 (GRCm39) Y392C probably damaging Het
Vmn2r55 A G 7: 12,404,492 (GRCm39) F304L probably benign Het
Zfp316 C T 5: 143,240,132 (GRCm39) G629D probably benign Het
Other mutations in Mex3d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01554:Mex3d APN 10 80,217,869 (GRCm39) missense possibly damaging 0.49
R0316:Mex3d UTSW 10 80,217,505 (GRCm39) missense probably damaging 0.97
R0401:Mex3d UTSW 10 80,222,728 (GRCm39) missense probably benign 0.33
R0734:Mex3d UTSW 10 80,217,366 (GRCm39) missense possibly damaging 0.55
R0894:Mex3d UTSW 10 80,217,376 (GRCm39) missense probably benign 0.04
R1452:Mex3d UTSW 10 80,217,354 (GRCm39) missense probably damaging 0.99
R1764:Mex3d UTSW 10 80,222,770 (GRCm39) missense probably benign 0.15
R1795:Mex3d UTSW 10 80,217,376 (GRCm39) missense probably benign 0.04
R4801:Mex3d UTSW 10 80,222,788 (GRCm39) missense possibly damaging 0.77
R4802:Mex3d UTSW 10 80,222,788 (GRCm39) missense possibly damaging 0.77
R5632:Mex3d UTSW 10 80,218,428 (GRCm39) missense probably damaging 1.00
R5964:Mex3d UTSW 10 80,218,421 (GRCm39) missense probably damaging 1.00
R6133:Mex3d UTSW 10 80,222,620 (GRCm39) missense probably damaging 0.99
R6414:Mex3d UTSW 10 80,217,205 (GRCm39) missense unknown
R6938:Mex3d UTSW 10 80,218,074 (GRCm39) missense possibly damaging 0.61
R7154:Mex3d UTSW 10 80,222,584 (GRCm39) missense
R7241:Mex3d UTSW 10 80,223,091 (GRCm39) missense
R7463:Mex3d UTSW 10 80,217,532 (GRCm39) missense
R8858:Mex3d UTSW 10 80,217,217 (GRCm39) missense unknown
R9359:Mex3d UTSW 10 80,217,581 (GRCm39) missense
R9583:Mex3d UTSW 10 80,218,129 (GRCm39) missense
Z1176:Mex3d UTSW 10 80,222,547 (GRCm39) missense
Z1177:Mex3d UTSW 10 80,217,184 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TGGCCTCACCTTCAGAACAC -3'
(R):5'- TTTGACTTCCTGGCGCTAGAC -3'

Sequencing Primer
(F):5'- GAACACACCACACACTCTCGAG -3'
(R):5'- TGCCACGGCTACCATTTGG -3'
Posted On 2017-01-03