Incidental Mutation 'R7379:Mturn'
ID 572574
Institutional Source Beutler Lab
Gene Symbol Mturn
Ensembl Gene ENSMUSG00000038065
Gene Name maturin, neural progenitor differentiation regulator homolog (Xenopus)
Synonyms 2410066E13Rik, B230212L03Rik
MMRRC Submission 045461-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7379 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 54658609-54680836 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 54666069 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 81 (T81A)
Ref Sequence ENSEMBL: ENSMUSP00000140586 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000187701] [ENSMUST00000190641]
AlphaFold Q8CGA4
Predicted Effect possibly damaging
Transcript: ENSMUST00000187701
AA Change: T81A

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000140358
Gene: ENSMUSG00000038065
AA Change: T81A

DomainStartEndE-ValueType
Pfam:DUF4581 4 130 2.6e-76 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000190641
AA Change: T81A

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000140586
Gene: ENSMUSG00000038065
AA Change: T81A

DomainStartEndE-ValueType
Pfam:DUF4581 4 131 9.5e-82 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (48/48)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd12 G A 17: 66,292,242 (GRCm39) R1064* probably null Het
Ccdc149 A G 5: 52,562,408 (GRCm39) I206T probably damaging Het
Ctu1 AGGACCGGGCAGGAGCCACCTGTGTATCGCAGAGGGACCTGAGCCTTGGGAATGGAGGGGACCGGGCAGGAGCCACCTGTGTATCGCAG AGGACCGGGCAGGAGCCACCTGTGTATCGCAG 7: 43,326,490 (GRCm39) probably benign Het
Cyp2j6 T C 4: 96,414,183 (GRCm39) T361A probably damaging Het
Cyp4a14 A T 4: 115,350,907 (GRCm39) probably null Het
Cyp7b1 A G 3: 18,151,538 (GRCm39) V225A probably benign Het
Esf1 A G 2: 139,996,854 (GRCm39) I503T probably benign Het
Flrt2 G A 12: 95,747,329 (GRCm39) V556I possibly damaging Het
Gaa T C 11: 119,174,525 (GRCm39) S791P probably benign Het
H2-T22 A G 17: 36,353,232 (GRCm39) probably null Het
Hexb A G 13: 97,317,672 (GRCm39) S342P probably damaging Het
Ift122 C T 6: 115,903,263 (GRCm39) R1176C probably benign Het
Ift57 A G 16: 49,581,357 (GRCm39) E341G probably damaging Het
Itpkc A T 7: 26,927,194 (GRCm39) I240K probably benign Het
Kit A T 5: 75,808,412 (GRCm39) S719C probably damaging Het
Klf1 T A 8: 85,629,846 (GRCm39) Y224N possibly damaging Het
Krt77 T C 15: 101,769,709 (GRCm39) E387G probably damaging Het
L3mbtl1 T A 2: 162,802,899 (GRCm39) D347E probably damaging Het
Map1s A G 8: 71,366,219 (GRCm39) T375A possibly damaging Het
Mug2 A G 6: 122,024,446 (GRCm39) E506G possibly damaging Het
Notch1 A G 2: 26,369,479 (GRCm39) F512S probably damaging Het
Or10g1 T C 14: 52,647,718 (GRCm39) T204A probably benign Het
Or12e13 T A 2: 87,664,123 (GRCm39) C247S probably damaging Het
Or4c12b T A 2: 89,647,033 (GRCm39) V115E probably benign Het
Or9s14 G T 1: 92,536,189 (GRCm39) C210F possibly damaging Het
Pcdhga10 A G 18: 37,880,619 (GRCm39) N127D probably damaging Het
Plb1 A G 5: 32,502,983 (GRCm39) I1148V probably damaging Het
Plcb1 A G 2: 135,212,430 (GRCm39) D1007G probably benign Het
Prdm16 T A 4: 154,613,316 (GRCm39) E37V probably damaging Het
Prss45 C A 9: 110,668,261 (GRCm39) N151K possibly damaging Het
Rngtt A T 4: 33,498,981 (GRCm39) K513* probably null Het
Serpinb10 T C 1: 107,460,117 (GRCm39) probably benign Het
Shc1 T C 3: 89,334,129 (GRCm39) V402A probably benign Het
Slc25a38 T A 9: 119,949,902 (GRCm39) L227Q probably benign Het
Slc6a13 A T 6: 121,313,798 (GRCm39) K514* probably null Het
Sorcs3 T C 19: 48,760,705 (GRCm39) V911A possibly damaging Het
Sptb A T 12: 76,657,651 (GRCm39) I1290N probably damaging Het
Sptbn1 T C 11: 30,089,292 (GRCm39) K657E possibly damaging Het
Stpg4 T A 17: 87,735,068 (GRCm39) probably null Het
Stx2 A G 5: 129,064,863 (GRCm39) V278A possibly damaging Het
Thoc1 A T 18: 9,992,902 (GRCm39) N558I probably benign Het
Trpm2 T C 10: 77,750,568 (GRCm39) T1343A probably benign Het
Usf3 T A 16: 44,040,939 (GRCm39) D1806E probably benign Het
Vmn2r106 C T 17: 20,488,037 (GRCm39) M787I possibly damaging Het
Wdfy4 A G 14: 32,873,566 (GRCm39) S248P Het
Zeb2 G T 2: 44,891,829 (GRCm39) probably null Het
Other mutations in Mturn
AlleleSourceChrCoordTypePredicted EffectPPH Score
R7722:Mturn UTSW 6 54,676,545 (GRCm39) splice site probably null
R8945:Mturn UTSW 6 54,666,017 (GRCm39) nonsense probably null
R9307:Mturn UTSW 6 54,676,541 (GRCm39) critical splice donor site probably null
R9319:Mturn UTSW 6 54,658,780 (GRCm39) missense probably benign 0.08
R9473:Mturn UTSW 6 54,666,009 (GRCm39) missense probably benign 0.23
R9748:Mturn UTSW 6 54,665,989 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- GGCTTTGACACTGATCCCTC -3'
(R):5'- TCATACTTCAGGGCCGACAAG -3'

Sequencing Primer
(F):5'- CCAAGGGGGTGGATTTCAC -3'
(R):5'- TTCAGGGCCGACAAGCAGAC -3'
Posted On 2019-09-13