Incidental Mutation 'R6116:Mosmo'
ID 485119
Institutional Source Beutler Lab
Gene Symbol Mosmo
Ensembl Gene ENSMUSG00000046096
Gene Name modulator of smoothened
Synonyms BC030336
MMRRC Submission 044265-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.642) question?
Stock # R6116 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 120276841-120334077 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 120325418 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 7 (L7H)
Ref Sequence ENSEMBL: ENSMUSP00000146833 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060175] [ENSMUST00000207065] [ENSMUST00000208454] [ENSMUST00000208873]
AlphaFold Q8C784
Predicted Effect probably damaging
Transcript: ENSMUST00000060175
AA Change: L61H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000055934
Gene: ENSMUSG00000046096
AA Change: L61H

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
transmembrane domain 66 88 N/A INTRINSIC
transmembrane domain 101 123 N/A INTRINSIC
transmembrane domain 138 160 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000207065
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207646
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208319
Predicted Effect probably damaging
Transcript: ENSMUST00000208454
AA Change: L61H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208534
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208627
Predicted Effect probably damaging
Transcript: ENSMUST00000208873
AA Change: L7H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T A 19: 8,990,327 (GRCm39) probably benign Het
Apc A T 18: 34,449,508 (GRCm39) I2101F probably damaging Het
Bpifa3 G A 2: 153,975,633 (GRCm39) V68I possibly damaging Het
Csmd1 T A 8: 16,261,864 (GRCm39) I878F probably damaging Het
Cyp2c67 A T 19: 39,605,879 (GRCm39) M339K probably damaging Het
Dock3 A G 9: 106,809,161 (GRCm39) Y1321H probably damaging Het
Dsc1 G T 18: 20,230,356 (GRCm39) D316E probably benign Het
Eno3 C T 11: 70,552,401 (GRCm39) T351M possibly damaging Het
Erbb2 T A 11: 98,318,225 (GRCm39) F487Y probably damaging Het
Exosc10 T C 4: 148,657,810 (GRCm39) L652P probably benign Het
Glmn A T 5: 107,705,206 (GRCm39) M470K probably damaging Het
Gm15446 T A 5: 110,090,902 (GRCm39) C385S probably damaging Het
Hspa8 A G 9: 40,716,271 (GRCm39) E581G probably damaging Het
Igfn1 T C 1: 135,898,205 (GRCm39) D787G probably benign Het
Igkv12-44 T C 6: 69,791,838 (GRCm39) T42A possibly damaging Het
Itsn2 T C 12: 4,679,939 (GRCm39) probably benign Het
Jade2 T C 11: 51,726,460 (GRCm39) E84G probably damaging Het
Lpar3 T A 3: 145,946,352 (GRCm39) M10K possibly damaging Het
Lpin2 A G 17: 71,550,925 (GRCm39) D695G probably damaging Het
Ms4a8a C T 19: 11,058,436 (GRCm39) A9T unknown Het
Myb T C 10: 21,030,653 (GRCm39) D48G probably damaging Het
Neurod6 T C 6: 55,655,776 (GRCm39) Y287C probably damaging Het
Olr1 T A 6: 129,476,947 (GRCm39) D106V probably damaging Het
Or11a4 A G 17: 37,536,459 (GRCm39) T148A probably benign Het
Or8b4 A G 9: 37,829,955 (GRCm39) M1V probably null Het
Peg10 C CCCATCAGGA 6: 4,756,351 (GRCm39) probably benign Het
Plch1 C T 3: 63,609,444 (GRCm39) R912H probably damaging Het
Ppfia3 T C 7: 45,004,127 (GRCm39) Y505C probably damaging Het
Sdk2 T A 11: 113,745,190 (GRCm39) I702F probably damaging Het
Slc16a11 T C 11: 70,106,262 (GRCm39) F119L probably benign Het
Slc2a10 A C 2: 165,359,623 (GRCm39) T496P probably damaging Het
Slc7a2 T C 8: 41,353,206 (GRCm39) Y181H probably damaging Het
Spata31e5 G A 1: 28,817,780 (GRCm39) A84V probably benign Het
Stab2 G T 10: 86,743,054 (GRCm39) P1185Q probably damaging Het
Tcf7l2 T A 19: 55,907,446 (GRCm39) S335R probably damaging Het
Ttc41 G A 10: 86,594,952 (GRCm39) probably null Het
Vmn2r32 A T 7: 7,467,092 (GRCm39) I812N probably damaging Het
Wdr24 C T 17: 26,043,579 (GRCm39) H134Y probably benign Het
Other mutations in Mosmo
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1172:Mosmo UTSW 7 120,329,745 (GRCm39) missense probably benign 0.00
R1582:Mosmo UTSW 7 120,329,728 (GRCm39) missense possibly damaging 0.64
R3704:Mosmo UTSW 7 120,329,828 (GRCm39) missense probably damaging 0.98
R5519:Mosmo UTSW 7 120,329,733 (GRCm39) missense probably benign 0.04
R7069:Mosmo UTSW 7 120,277,055 (GRCm39) missense probably benign 0.12
R7431:Mosmo UTSW 7 120,329,873 (GRCm39) missense probably benign 0.09
R8374:Mosmo UTSW 7 120,329,715 (GRCm39) missense probably benign 0.05
R9222:Mosmo UTSW 7 120,277,055 (GRCm39) missense probably benign 0.38
Predicted Primers PCR Primer
(F):5'- GACTGCTGAAGAGAATTCCTTG -3'
(R):5'- CCACTGTGCTGCCTTCTAGAAC -3'

Sequencing Primer
(F):5'- TGGATTGTCCACACAGATACC -3'
(R):5'- GTGCTGCCTTCTAGAACAACTTAG -3'
Posted On 2017-08-16