Incidental Mutation 'R5967:Muc17'
ID 470660
Institutional Source Beutler Lab
Gene Symbol Muc17
Ensembl Gene ENSMUSG00000037390
Gene Name mucin 17, cell surface associated
Synonyms Muc3
MMRRC Submission 043248-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R5967 (G1)
Quality Score 219
Status Not validated
Chromosome 5
Chromosomal Location 137163772-137202809 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 137175485 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 62 (I62L)
Ref Sequence ENSEMBL: ENSMUSP00000045196 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041226]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000041226
AA Change: I62L

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000045196
Gene: ENSMUSG00000037390
AA Change: I62L

DomainStartEndE-ValueType
low complexity region 1 62 N/A INTRINSIC
EGF_like 85 118 3.64e1 SMART
SEA 128 241 3.05e-32 SMART
EGF_like 290 331 3.72e1 SMART
transmembrane domain 340 362 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.4%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agl T A 3: 116,587,357 (GRCm39) D66V probably benign Het
Agrn G A 4: 156,259,560 (GRCm39) P792S probably damaging Het
Angptl2 A G 2: 33,118,718 (GRCm39) N164S probably damaging Het
Birc6 T C 17: 74,967,434 (GRCm39) F4112L probably damaging Het
C8b A G 4: 104,650,530 (GRCm39) E446G possibly damaging Het
Ceacam1 C T 7: 25,174,167 (GRCm39) V163I probably damaging Het
Cngb1 T C 8: 95,978,534 (GRCm39) K1068R probably damaging Het
Gna11 A G 10: 81,366,643 (GRCm39) Y356H probably benign Het
Gnl2 A G 4: 124,934,823 (GRCm39) M160V probably benign Het
Gpsm1 A G 2: 26,230,546 (GRCm39) probably null Het
Grep1 C A 17: 23,931,332 (GRCm39) G192W probably damaging Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Kif20a G T 18: 34,763,580 (GRCm39) R609L probably benign Het
Meis2 G A 2: 115,694,790 (GRCm39) T444I probably benign Het
Myorg G A 4: 41,497,830 (GRCm39) A600V probably benign Het
Ncor2 C T 5: 125,146,048 (GRCm39) D526N unknown Het
Nodal G T 10: 61,259,446 (GRCm39) E294D probably damaging Het
Nup214 T C 2: 31,869,790 (GRCm39) V161A possibly damaging Het
Or10a48 C T 7: 108,424,921 (GRCm39) G95D probably benign Het
Or5k1b G T 16: 58,580,725 (GRCm39) D271E probably damaging Het
Or5m11b G A 2: 85,806,535 (GRCm39) R316H probably benign Het
Pclo A T 5: 14,590,669 (GRCm39) T990S unknown Het
Piwil2 A T 14: 70,628,013 (GRCm39) M752K probably benign Het
Ppargc1b A G 18: 61,431,837 (GRCm39) S1004P probably damaging Het
Prkd1 A T 12: 50,411,333 (GRCm39) M805K probably damaging Het
Rad23a T C 8: 85,565,568 (GRCm39) E30G probably damaging Het
Ralbp1 A G 17: 66,171,274 (GRCm39) V233A probably benign Het
Scin C T 12: 40,127,537 (GRCm39) E418K probably benign Het
Scn7a T A 2: 66,506,057 (GRCm39) I1611F probably damaging Het
Slit2 A T 5: 48,142,506 (GRCm39) H42L probably damaging Het
Stard9 T A 2: 120,537,375 (GRCm39) V4259D probably damaging Het
Trhde T A 10: 114,403,039 (GRCm39) Y528F probably damaging Het
Txlnb A G 10: 17,675,168 (GRCm39) E107G probably damaging Het
Zfp715 T C 7: 42,948,572 (GRCm39) T463A probably benign Het
Other mutations in Muc17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00503:Muc17 APN 5 137,165,971 (GRCm39) nonsense probably null
R0256:Muc17 UTSW 5 137,175,539 (GRCm39) missense probably damaging 1.00
R0884:Muc17 UTSW 5 137,171,146 (GRCm39) missense possibly damaging 0.88
R1368:Muc17 UTSW 5 137,175,674 (GRCm39) splice site probably benign
R1456:Muc17 UTSW 5 137,166,799 (GRCm39) missense probably benign 0.01
R1670:Muc17 UTSW 5 137,172,843 (GRCm39) missense probably benign 0.22
R2401:Muc17 UTSW 5 137,190,980 (GRCm39) unclassified probably benign
R2698:Muc17 UTSW 5 137,175,484 (GRCm39) missense probably damaging 0.99
R4637:Muc17 UTSW 5 137,175,502 (GRCm39) missense probably damaging 0.98
R5128:Muc17 UTSW 5 137,167,034 (GRCm39) critical splice donor site probably null
R5323:Muc17 UTSW 5 137,175,537 (GRCm39) nonsense probably null
R5601:Muc17 UTSW 5 137,166,863 (GRCm39) missense probably damaging 1.00
R6480:Muc17 UTSW 5 137,171,238 (GRCm39) missense
R7777:Muc17 UTSW 5 137,175,564 (GRCm39) synonymous silent
R7868:Muc17 UTSW 5 137,175,625 (GRCm39) missense
R7974:Muc17 UTSW 5 137,175,664 (GRCm39) missense
R8393:Muc17 UTSW 5 137,171,179 (GRCm39) missense
R8415:Muc17 UTSW 5 137,172,798 (GRCm39) missense
R8419:Muc17 UTSW 5 137,175,570 (GRCm39) missense
R9105:Muc17 UTSW 5 137,171,238 (GRCm39) missense
R9742:Muc17 UTSW 5 137,167,127 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- GTACTTACACGCACATGCAC -3'
(R):5'- GTGTGTACCAAATCTCTGCTTTG -3'

Sequencing Primer
(F):5'- GTACTTACACGCACATGCACATACAC -3'
(R):5'- TTGCAGTGAATTGTATGAACGGAG -3'
Posted On 2017-03-31