Incidental Mutation 'R2473:Mucl2'
ID 253241
Institutional Source Beutler Lab
Gene Symbol Mucl2
Ensembl Gene ENSMUSG00000036925
Gene Name mucin-like 2
Synonyms Spt1, Spt-1
MMRRC Submission 040404-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.314) question?
Stock # R2473 (G1)
Quality Score 203
Status Not validated
Chromosome 15
Chromosomal Location 103926121-103929578 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 103927628 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glutamine at position 110 (E110Q)
Ref Sequence ENSEMBL: ENSMUSP00000154772 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037685] [ENSMUST00000226584]
AlphaFold P02815
Predicted Effect unknown
Transcript: ENSMUST00000037685
AA Change: E110Q
SMART Domains Protein: ENSMUSP00000044814
Gene: ENSMUSG00000036925
AA Change: E110Q

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
low complexity region 54 67 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000226584
AA Change: E110Q

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 94.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp8b4 T G 2: 126,200,814 (GRCm39) K785Q possibly damaging Het
Cacnb2 G A 2: 14,989,125 (GRCm39) D402N probably damaging Het
Cyp3a16 T A 5: 145,392,404 (GRCm39) I184F possibly damaging Het
Ephb4 T A 5: 137,363,962 (GRCm39) D611E probably benign Het
Habp2 G A 19: 56,276,464 (GRCm39) V13M possibly damaging Het
Mamdc4 C A 2: 25,456,344 (GRCm39) G713V probably damaging Het
Marveld2 C T 13: 100,733,829 (GRCm39) V269M probably damaging Het
Mbd5 T A 2: 49,169,353 (GRCm39) M1508K probably benign Het
Mgp T C 6: 136,850,162 (GRCm39) probably null Het
Mxra8 T C 4: 155,926,500 (GRCm39) F286S probably damaging Het
Or2t46 A G 11: 58,472,401 (GRCm39) T244A probably damaging Het
Or4g16 T C 2: 111,137,236 (GRCm39) S229P probably damaging Het
Or52h9 T C 7: 104,202,146 (GRCm39) Y7H possibly damaging Het
Or5p70 C T 7: 107,994,711 (GRCm39) A128V probably damaging Het
Pax3 C T 1: 78,099,227 (GRCm39) probably null Het
Polm T C 11: 5,779,881 (GRCm39) E339G possibly damaging Het
Sec14l4 T A 11: 3,993,359 (GRCm39) V218E probably benign Het
Sf3b1 C T 1: 55,038,785 (GRCm39) probably null Het
Six4 A G 12: 73,150,949 (GRCm39) V532A probably benign Het
Slc35c1 T A 2: 92,285,098 (GRCm39) D172V probably benign Het
Ttc39a A T 4: 109,299,436 (GRCm39) I428F probably damaging Het
Zfp414 CAAACTCTTCCGA CAAACTCTTCCGAAACTCTTCCGA 17: 33,849,551 (GRCm39) probably null Het
Other mutations in Mucl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0164:Mucl2 UTSW 15 103,929,445 (GRCm39) splice site probably null
R1468:Mucl2 UTSW 15 103,927,673 (GRCm39) missense possibly damaging 0.66
R1468:Mucl2 UTSW 15 103,927,673 (GRCm39) missense possibly damaging 0.66
R1760:Mucl2 UTSW 15 103,927,838 (GRCm39) missense possibly damaging 0.66
R2188:Mucl2 UTSW 15 103,927,840 (GRCm39) missense probably damaging 0.97
R3792:Mucl2 UTSW 15 103,928,692 (GRCm39) missense possibly damaging 0.66
R5250:Mucl2 UTSW 15 103,927,733 (GRCm39) missense possibly damaging 0.66
R5934:Mucl2 UTSW 15 103,927,832 (GRCm39) missense probably benign 0.27
R7313:Mucl2 UTSW 15 103,929,445 (GRCm39) splice site probably null
R7532:Mucl2 UTSW 15 103,926,318 (GRCm39) missense unknown
R7555:Mucl2 UTSW 15 103,927,711 (GRCm39) missense probably benign 0.03
R8952:Mucl2 UTSW 15 103,929,445 (GRCm39) splice site probably null
R8972:Mucl2 UTSW 15 103,927,860 (GRCm39) critical splice acceptor site probably null
R9035:Mucl2 UTSW 15 103,926,279 (GRCm39) missense unknown
RF015:Mucl2 UTSW 15 103,927,696 (GRCm39) missense probably benign 0.18
Predicted Primers PCR Primer
(F):5'- AGTTGCCATGCTACCTGGAG -3'
(R):5'- TGGCTCTGAAACTCAGGCAG -3'

Sequencing Primer
(F):5'- ATGCTACCTGGAGACACTTTAC -3'
(R):5'- CTCTGAAACTCAGGCAGATAGTACTG -3'
Posted On 2014-12-04