Incidental Mutation 'R8672:Mucl1'
ID661229
Institutional Source Beutler Lab
Gene Symbol Mucl1
Ensembl Gene ENSMUSG00000060311
Gene Namemucin-like 1
SynonymsSpt2, Spt-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.073) question?
Stock #R8672 (G1)
Quality Score225.009
Status Not validated
Chromosome15
Chromosomal Location103751919-103755469 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 103753797 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 48 (S48P)
Ref Sequence ENSEMBL: ENSMUSP00000154005 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078842] [ENSMUST00000226484]
Predicted Effect possibly damaging
Transcript: ENSMUST00000078842
AA Change: S48P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000077886
Gene: ENSMUSG00000060311
AA Change: S48P

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: S48P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000226484
AA Change: S35P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067P10Rik G T 17: 48,090,329 E45* probably null Het
4932415D10Rik A T 10: 82,291,892 N1761K probably benign Het
9930021J03Rik T C 19: 29,754,164 T483A probably benign Het
Aadat A T 8: 60,506,145 probably benign Het
Amigo3 A G 9: 108,054,176 H266R possibly damaging Het
Amy2a1 A T 3: 113,529,497 M214K probably damaging Het
Atp11b A T 3: 35,819,917 D685V probably benign Het
Aunip T A 4: 134,523,149 M135K probably benign Het
Card9 T C 2: 26,357,938 T134A probably benign Het
Cd46 G A 1: 195,082,641 T216I probably benign Het
Chit1 T C 1: 134,151,267 V360A unknown Het
Crcp A G 5: 130,042,236 R59G probably benign Het
Csmd1 T A 8: 15,926,598 E2873D probably benign Het
Cyp8b1 T A 9: 121,914,920 M449L probably benign Het
Dpp7 T C 2: 25,356,121 D40G probably benign Het
Eif4g3 T A 4: 138,126,512 L463Q possibly damaging Het
Fzd9 T C 5: 135,249,670 I454V probably benign Het
Gbp11 T A 5: 105,343,809 I41F probably damaging Het
Gkap1 G A 13: 58,243,848 T231I probably damaging Het
Heatr5b A G 17: 78,762,203 L1705P probably damaging Het
Herc3 T A 6: 58,873,801 F467I probably damaging Het
Ifih1 T C 2: 62,605,649 E699G possibly damaging Het
Ints5 T A 19: 8,896,006 L443Q probably damaging Het
Itpr2 A T 6: 146,374,518 C764S probably damaging Het
Kcnma1 A T 14: 23,501,162 I519N probably damaging Het
Krtap4-1 C T 11: 99,628,064 C40Y unknown Het
Mdn1 A G 4: 32,768,793 D5384G probably damaging Het
Mpl T C 4: 118,448,913 Y310C probably damaging Het
Musk T G 4: 58,286,051 probably benign Het
Nemp1 T C 10: 127,677,119 S8P probably benign Het
Nisch A G 14: 31,173,136 C1068R probably damaging Het
Npr3 T C 15: 11,851,493 N404D probably damaging Het
Nwd1 C G 8: 72,667,379 H423Q probably damaging Het
Olfr1062 T A 2: 86,423,632 M15L probably benign Het
Olfr76 C T 19: 12,120,557 V52M probably benign Het
Olfr792 T A 10: 129,540,727 N63K probably damaging Het
Pcdh9 T C 14: 93,887,093 N547S probably benign Het
Pdha2 C A 3: 141,211,363 R128L probably damaging Het
Pebp1 A G 5: 117,283,271 Y181H probably benign Het
Peg3 T G 7: 6,708,524 D1233A possibly damaging Het
Pepd C A 7: 34,942,682 T146N probably damaging Het
Ptk2b A T 14: 66,156,392 D877E probably benign Het
Rabgap1l A C 1: 160,443,276 M647R probably damaging Het
Rp1 A G 1: 4,348,784 S702P possibly damaging Het
Shb A T 4: 45,489,161 D238E probably damaging Het
Slc36a1 T A 11: 55,232,508 V433D possibly damaging Het
Spen C T 4: 141,470,370 A3396T probably benign Het
Tcerg1 A T 18: 42,553,494 K705N probably damaging Het
Thbs1 C A 2: 118,113,238 N112K probably benign Het
Zfp658 T C 7: 43,573,495 I398T possibly damaging Het
Other mutations in Mucl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2338:Mucl1 UTSW 15 103753698 missense possibly damaging 0.66
R2850:Mucl1 UTSW 15 103752082 missense possibly damaging 0.66
R5094:Mucl1 UTSW 15 103755403 missense possibly damaging 0.83
R5704:Mucl1 UTSW 15 103755397 missense probably benign 0.05
R7040:Mucl1 UTSW 15 103753578 missense possibly damaging 0.66
R7774:Mucl1 UTSW 15 103753684 missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- GTGTCACCCACTTTGGTCTG -3'
(R):5'- GTCAGTGTCATTGCCCAAGG -3'

Sequencing Primer
(F):5'- CACCCACTTTGGTCTGATTAGAGG -3'
(R):5'- TGCCCAAGGAAATTATAAGGTCATG -3'
Posted On2021-03-08