Incidental Mutation 'R5094:Mucl1'
ID 388006
Institutional Source Beutler Lab
Gene Symbol Mucl1
Ensembl Gene ENSMUSG00000060311
Gene Name mucin-like 1
Synonyms Spt2, Spt-2
MMRRC Submission 042683-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R5094 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 103782185-103785735 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103785669 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 13 (S13P)
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: S13P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000077886
Gene: ENSMUSG00000060311
AA Change: S13P

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: S13P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000226484
AA Change: S13P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
Meta Mutation Damage Score 0.2093 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 92.9%
Validation Efficiency 91% (40/44)
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik G T 15: 81,946,883 (GRCm39) G260V possibly damaging Het
Agap3 T C 5: 24,656,319 (GRCm39) probably benign Het
Bicra A G 7: 15,709,296 (GRCm39) S1173P probably damaging Het
C3 A T 17: 57,532,033 (GRCm39) probably null Het
Cdh18 G A 15: 22,714,625 (GRCm39) probably benign Het
Cep290 A G 10: 100,402,892 (GRCm39) K2274E probably damaging Het
Cfap54 T C 10: 92,734,861 (GRCm39) probably benign Het
Chat T A 14: 32,130,896 (GRCm39) I582F probably damaging Het
Chrnb4 T C 9: 54,942,597 (GRCm39) I226V probably benign Het
Dnajc2 T C 5: 21,981,730 (GRCm39) T139A probably damaging Het
Eml1 T C 12: 108,502,570 (GRCm39) F712S probably benign Het
Fgfr1 C T 8: 26,060,181 (GRCm39) S524L probably damaging Het
Gimap3 T C 6: 48,742,306 (GRCm39) E208G probably damaging Het
Gm12185 T A 11: 48,798,375 (GRCm39) D706V probably benign Het
Gucy1a2 T A 9: 3,865,443 (GRCm39) V639D probably damaging Het
Hivep2 T C 10: 14,007,893 (GRCm39) F1497S probably benign Het
Hunk A G 16: 90,293,554 (GRCm39) D612G probably benign Het
Ifit3b T A 19: 34,589,948 (GRCm39) S375T possibly damaging Het
Or5w12 C T 2: 87,502,174 (GRCm39) C179Y possibly damaging Het
Or8k20 T A 2: 86,106,384 (GRCm39) Y149F probably damaging Het
Pah T A 10: 87,374,081 (GRCm39) Y78* probably null Het
Pex13 A G 11: 23,605,441 (GRCm39) V263A probably benign Het
Pfdn2 T A 1: 171,184,067 (GRCm39) probably benign Het
Phip C T 9: 82,753,897 (GRCm39) V1616I probably benign Het
Pigg A G 5: 108,484,123 (GRCm39) S457G possibly damaging Het
Ppp1r13b A G 12: 111,810,044 (GRCm39) S97P probably benign Het
Slc22a6 T C 19: 8,603,541 (GRCm39) L535P probably damaging Het
Slc5a1 A G 5: 33,315,624 (GRCm39) T548A probably damaging Het
Smtnl2 T A 11: 72,291,211 (GRCm39) S346C probably damaging Het
Spata31d1a A G 13: 59,852,858 (GRCm39) probably null Het
Tlcd2 T C 11: 75,360,640 (GRCm39) S228P probably benign Het
Tmem135 A G 7: 88,793,001 (GRCm39) L411P probably damaging Het
Tnrc6c T C 11: 117,611,872 (GRCm39) V170A probably benign 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
R5704:Mucl1 UTSW 15 103,785,663 (GRCm39) missense probably benign 0.05
R7040:Mucl1 UTSW 15 103,783,844 (GRCm39) missense possibly damaging 0.66
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'- TGAGACCCTGACACCACATG -3'
(R):5'- CCTGTTACACAAATACCAGGTTG -3'

Sequencing Primer
(F):5'- TGACACCACATGGCAGAC -3'
(R):5'- CCAGGTTGTGGCAGCTTC -3'
Posted On 2016-06-06