Incidental Mutation 'R7040:Mucl1'
ID 547020
Institutional Source Beutler Lab
Gene Symbol Mucl1
Ensembl Gene ENSMUSG00000060311
Gene Name mucin-like 1
Synonyms Spt2, Spt-2
MMRRC Submission 045013-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R7040 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 103782185-103785735 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 103783844 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 108 (T108S)
Ref Sequence ENSEMBL: ENSMUSP00000154525 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078842] [ENSMUST00000226484]
AlphaFold A0A2I3BQB5
Predicted Effect possibly damaging
Transcript: ENSMUST00000078842
AA Change: T121S

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000077886
Gene: ENSMUSG00000060311
AA Change: T121S

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
low complexity region 76 93 N/A INTRINSIC
internal_repeat_1 98 134 1.67e-5 PROSPERO
internal_repeat_1 134 170 1.67e-5 PROSPERO
low complexity region 187 195 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000078842
AA Change: T121S

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000226484
AA Change: T108S

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130023H24Rik A G 7: 127,835,897 (GRCm39) L232P possibly damaging Het
Acaa1a T C 9: 119,178,104 (GRCm39) V312A probably damaging Het
Bmp2 A G 2: 133,403,604 (GRCm39) D385G probably damaging Het
C1qtnf9 T C 14: 61,017,241 (GRCm39) V257A probably damaging Het
Cd3d G A 9: 44,896,991 (GRCm39) V122I probably damaging Het
Cdc37 T C 9: 21,053,519 (GRCm39) E199G probably damaging Het
Crb2 T A 2: 37,677,696 (GRCm39) D326E probably benign Het
Cyp2c29 A C 19: 39,318,781 (GRCm39) K420N possibly damaging Het
Cyp2g1 A C 7: 26,520,184 (GRCm39) D472A probably damaging Het
Dab2 A C 15: 6,451,732 (GRCm39) H116P probably damaging Het
Dnah7b G C 1: 46,275,969 (GRCm39) E2619Q probably benign Het
Dsg4 A T 18: 20,584,909 (GRCm39) M208L probably benign Het
Eif4enif1 T G 11: 3,184,040 (GRCm39) V521G probably benign Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fpr-rs6 A G 17: 20,403,196 (GRCm39) M55T probably damaging Het
Grhpr A G 4: 44,985,362 (GRCm39) S101G probably damaging Het
Kif15 T A 9: 122,840,679 (GRCm39) D33E possibly damaging Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Het
Lama4 A G 10: 38,936,158 (GRCm39) Q611R possibly damaging Het
Lrrc47 T A 4: 154,104,909 (GRCm39) *123R probably null Het
Map4k3 A C 17: 80,988,344 (GRCm39) V36G probably damaging Het
Mme T A 3: 63,276,344 (GRCm39) I707N probably damaging Het
Muc2 A G 7: 141,305,194 (GRCm39) E166G unknown Het
Myo1h A T 5: 114,497,805 (GRCm39) D53V possibly damaging Het
Naa15 T A 3: 51,380,205 (GRCm39) L811Q possibly damaging Het
Nalcn T C 14: 123,525,267 (GRCm39) T1487A probably benign Het
Nme8 A T 13: 19,878,498 (GRCm39) L87H probably damaging Het
Nr2e1 A G 10: 42,444,374 (GRCm39) V245A probably damaging Het
Nt5c2 A T 19: 46,881,974 (GRCm39) F291Y possibly damaging Het
Ooep T C 9: 78,285,683 (GRCm39) N43S possibly damaging Het
Or10ak13 T C 4: 118,639,183 (GRCm39) M200V probably benign Het
Or4e1 T C 14: 52,700,932 (GRCm39) D178G possibly damaging Het
Or52i2 A T 7: 102,319,937 (GRCm39) Q270L probably benign Het
Or52n2c A T 7: 104,574,717 (GRCm39) C85S probably benign Het
Ovch2 A T 7: 107,395,772 (GRCm39) I82N probably damaging Het
Palb2 A T 7: 121,713,622 (GRCm39) M524K possibly damaging Het
Patj T C 4: 98,329,317 (GRCm39) S524P probably benign Het
Patl1 T A 19: 11,907,318 (GRCm39) Y401N possibly damaging Het
Pcdhb20 A T 18: 37,637,770 (GRCm39) T99S probably benign Het
Plcb4 G A 2: 135,774,182 (GRCm39) A155T probably benign Het
Rpap3 A G 15: 97,576,993 (GRCm39) V585A possibly damaging Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Spen T A 4: 141,221,693 (GRCm39) T302S unknown Het
Tenm4 G A 7: 96,202,703 (GRCm39) R106H probably benign Het
Ube2o T C 11: 116,432,686 (GRCm39) E760G probably benign Het
Uimc1 T A 13: 55,223,267 (GRCm39) probably null Het
Usp16 C T 16: 87,277,817 (GRCm39) A689V probably damaging Het
Vmn2r60 G A 7: 41,791,666 (GRCm39) A530T probably benign Het
Vps8 T A 16: 21,393,772 (GRCm39) M1185K probably damaging Het
Vwa8 T C 14: 79,149,645 (GRCm39) S136P probably damaging Het
Ythdc2 A G 18: 44,967,529 (GRCm39) N175S probably benign Het
Zfp160 A T 17: 21,246,794 (GRCm39) H448L probably damaging Het
Zfp90 T A 8: 107,151,641 (GRCm39) C451* probably null Het
Zfp945 A G 17: 23,071,264 (GRCm39) C212R probably damaging Het
Other mutations in Mucl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2338:Mucl1 UTSW 15 103,783,964 (GRCm39) missense possibly damaging 0.66
R2850:Mucl1 UTSW 15 103,782,348 (GRCm39) missense possibly damaging 0.66
R5094:Mucl1 UTSW 15 103,785,669 (GRCm39) missense possibly damaging 0.83
R5704:Mucl1 UTSW 15 103,785,663 (GRCm39) missense probably benign 0.05
R7774:Mucl1 UTSW 15 103,783,950 (GRCm39) missense possibly damaging 0.82
R8672:Mucl1 UTSW 15 103,784,063 (GRCm39) missense possibly damaging 0.83
R9468:Mucl1 UTSW 15 103,784,035 (GRCm39) missense possibly damaging 0.82
R9626:Mucl1 UTSW 15 103,783,934 (GRCm39) missense possibly damaging 0.83
Predicted Primers PCR Primer
(F):5'- GGCCATGGGGAACTTAAGGATTC -3'
(R):5'- GAAAACCAAGATGCTGAGTCC -3'

Sequencing Primer
(F):5'- GGAACTTAAGGATTCAAAGAGTTCC -3'
(R):5'- GCTGAGTCCTCTAATTTAGCCAAGG -3'
Posted On 2019-05-13