Incidental Mutation 'IGL02233:Muc1'
ID 285809
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Muc1
Ensembl Gene ENSMUSG00000042784
Gene Name mucin 1, transmembrane
Synonyms Muc-1, EMA, CD227
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.340) question?
Stock # IGL02233
Quality Score
Status
Chromosome 3
Chromosomal Location 89136364-89140688 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 89138935 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 515 (V515I)
Ref Sequence ENSEMBL: ENSMUSP00000041963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029682] [ENSMUST00000041022] [ENSMUST00000041142] [ENSMUST00000090924] [ENSMUST00000107464] [ENSMUST00000119084] [ENSMUST00000174126] [ENSMUST00000143637]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000029682
SMART Domains Protein: ENSMUSP00000029682
Gene: ENSMUSG00000028047

DomainStartEndE-ValueType
TSPN 21 193 4.71e-56 SMART
Pfam:COMP 226 270 2.5e-22 PFAM
EGF 277 315 8.19e-2 SMART
EGF_CA 316 369 6.91e-9 SMART
EGF_CA 370 413 1.38e-8 SMART
EGF 417 456 1.99e0 SMART
Pfam:TSP_3 492 527 1e-12 PFAM
Pfam:TSP_3 551 586 2.2e-16 PFAM
Pfam:TSP_3 586 609 6.6e-7 PFAM
Pfam:TSP_3 610 647 2.6e-14 PFAM
Pfam:TSP_3 648 687 2.4e-10 PFAM
Pfam:TSP_3 688 723 4.2e-15 PFAM
Pfam:TSP_C 741 938 3.3e-99 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000041022
SMART Domains Protein: ENSMUSP00000036053
Gene: ENSMUSG00000042766

DomainStartEndE-ValueType
RING 33 133 1.92e-6 SMART
BBOX 222 263 9.59e-7 SMART
Blast:BBC 271 395 3e-13 BLAST
FN3 430 515 2.03e-2 SMART
low complexity region 561 571 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000041142
AA Change: V515I

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000041963
Gene: ENSMUSG00000042784
AA Change: V515I

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 30 46 N/A INTRINSIC
internal_repeat_2 48 106 4.93e-6 PROSPERO
internal_repeat_1 79 151 3.46e-38 PROSPERO
low complexity region 153 181 N/A INTRINSIC
internal_repeat_1 183 254 3.46e-38 PROSPERO
internal_repeat_2 192 259 4.93e-6 PROSPERO
low complexity region 277 292 N/A INTRINSIC
low complexity region 296 307 N/A INTRINSIC
low complexity region 370 381 N/A INTRINSIC
low complexity region 382 400 N/A INTRINSIC
SEA 412 528 6.2e-43 SMART
low complexity region 537 552 N/A INTRINSIC
Blast:SEA 557 624 2e-36 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000090924
SMART Domains Protein: ENSMUSP00000088442
Gene: ENSMUSG00000042766

DomainStartEndE-ValueType
RING 20 120 1.92e-6 SMART
BBOX 209 250 9.59e-7 SMART
Blast:BBC 258 382 8e-13 BLAST
FN3 417 502 2.03e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000102300
Predicted Effect probably benign
Transcript: ENSMUST00000107464
SMART Domains Protein: ENSMUSP00000103088
Gene: ENSMUSG00000042766

DomainStartEndE-ValueType
RING 10 110 1.92e-6 SMART
BBOX 199 240 9.59e-7 SMART
Blast:BBC 248 372 2e-13 BLAST
FN3 407 492 2.03e-2 SMART
low complexity region 538 548 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139419
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153129
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139206
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174324
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126315
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146844
Predicted Effect probably benign
Transcript: ENSMUST00000119084
SMART Domains Protein: ENSMUSP00000112912
Gene: ENSMUSG00000028047

DomainStartEndE-ValueType
TSPN 21 193 4.71e-56 SMART
Pfam:COMP 226 270 8.2e-26 PFAM
EGF 277 315 8.19e-2 SMART
EGF_CA 316 369 6.91e-9 SMART
EGF_CA 370 413 1.38e-8 SMART
Pfam:TSP_3 455 490 4.4e-13 PFAM
Pfam:TSP_3 514 549 9.3e-17 PFAM
Pfam:TSP_3 549 572 2.8e-7 PFAM
Pfam:TSP_3 573 610 1.1e-14 PFAM
Pfam:TSP_3 611 650 1e-10 PFAM
Pfam:TSP_3 651 686 1.8e-15 PFAM
Pfam:TSP_C 704 904 7.9e-108 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174126
SMART Domains Protein: ENSMUSP00000133291
Gene: ENSMUSG00000064068

DomainStartEndE-ValueType
Pfam:Tom37_C 1 74 7.6e-23 PFAM
Pfam:GST_C_3 7 143 7.3e-12 PFAM
Pfam:GST_C_2 26 137 2.8e-9 PFAM
Pfam:Tom37_C 61 129 6.2e-15 PFAM
low complexity region 159 169 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000136881
SMART Domains Protein: ENSMUSP00000120337
Gene: ENSMUSG00000028047

DomainStartEndE-ValueType
Pfam:TSP_3 1 31 5.8e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143637
SMART Domains Protein: ENSMUSP00000119270
Gene: ENSMUSG00000042766

DomainStartEndE-ValueType
RING 33 133 1.92e-6 SMART
BBOX 222 263 9.59e-7 SMART
Blast:BBC 270 391 4e-11 BLAST
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele display delayed mammary tumor progression, impaired intestinal absorption of cholesterol, decreased gastric mucus accumulation, reduced secretion and accumulation of gallbladder mucin, and decreased susceptibility to cholesterol gallstone formation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 G A 11: 110,165,170 (GRCm39) Q1581* probably null Het
Abcc10 A T 17: 46,635,085 (GRCm39) probably null Het
Adam25 A G 8: 41,208,423 (GRCm39) Y563C probably damaging Het
Cnr2 T A 4: 135,644,522 (GRCm39) I200N possibly damaging Het
Col5a2 T C 1: 45,422,747 (GRCm39) probably null Het
Cpa2 T C 6: 30,557,666 (GRCm39) probably benign Het
Dis3l2 T C 1: 86,917,953 (GRCm39) V534A probably damaging Het
Dlg2 A T 7: 92,093,746 (GRCm39) D845V probably damaging Het
Dnah8 T C 17: 30,925,487 (GRCm39) probably null Het
Ephb4 T A 5: 137,352,763 (GRCm39) Y115* probably null Het
Evc2 A G 5: 37,535,681 (GRCm39) Y452C probably damaging Het
Fbn1 A G 2: 125,163,530 (GRCm39) probably benign Het
Gm5134 A T 10: 75,844,334 (GRCm39) probably null Het
Gpr157 A G 4: 150,186,184 (GRCm39) T249A possibly damaging Het
Hoxc6 A G 15: 102,918,308 (GRCm39) T91A probably benign Het
Lin9 C A 1: 180,516,865 (GRCm39) A535E probably damaging Het
Mup3 A G 4: 62,003,016 (GRCm39) I170T probably damaging Het
Myo1e T C 9: 70,291,081 (GRCm39) probably benign Het
Or3a1d A G 11: 74,238,254 (GRCm39) V52A possibly damaging Het
Or8b50 A G 9: 38,518,538 (GRCm39) Y259C probably damaging Het
Pde4d T C 13: 109,877,084 (GRCm39) S202P probably damaging Het
Pomt2 A G 12: 87,158,185 (GRCm39) V676A probably benign Het
Rasl10a C A 11: 5,008,333 (GRCm39) L10M probably damaging Het
Rilp T C 11: 75,403,538 (GRCm39) Y327H probably damaging Het
Sec23ip A G 7: 128,380,903 (GRCm39) S957G probably damaging Het
Srbd1 T C 17: 86,406,050 (GRCm39) probably null Het
Thsd7a T C 6: 12,555,257 (GRCm39) H209R probably benign Het
Trav14-3 T C 14: 54,000,643 (GRCm39) probably benign Het
Vipr2 A G 12: 116,058,356 (GRCm39) N91S probably damaging Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Other mutations in Muc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01152:Muc1 APN 3 89,138,061 (GRCm39) missense probably benign 0.01
IGL01549:Muc1 APN 3 89,139,117 (GRCm39) missense probably damaging 1.00
IGL01969:Muc1 APN 3 89,139,313 (GRCm39) missense probably damaging 1.00
IGL03160:Muc1 APN 3 89,140,331 (GRCm39) missense possibly damaging 0.89
R0670:Muc1 UTSW 3 89,137,839 (GRCm39) missense probably benign 0.00
R0682:Muc1 UTSW 3 89,138,439 (GRCm39) missense probably damaging 1.00
R0702:Muc1 UTSW 3 89,137,527 (GRCm39) missense probably benign 0.00
R0744:Muc1 UTSW 3 89,137,635 (GRCm39) missense possibly damaging 0.92
R1137:Muc1 UTSW 3 89,137,745 (GRCm39) missense probably benign 0.00
R1270:Muc1 UTSW 3 89,139,414 (GRCm39) missense probably damaging 1.00
R1673:Muc1 UTSW 3 89,139,079 (GRCm39) missense possibly damaging 0.76
R1869:Muc1 UTSW 3 89,139,117 (GRCm39) missense probably damaging 1.00
R2169:Muc1 UTSW 3 89,138,903 (GRCm39) missense probably damaging 1.00
R4460:Muc1 UTSW 3 89,138,870 (GRCm39) missense probably damaging 0.98
R4461:Muc1 UTSW 3 89,138,870 (GRCm39) missense probably damaging 0.98
R4672:Muc1 UTSW 3 89,139,384 (GRCm39) missense probably damaging 0.99
R5892:Muc1 UTSW 3 89,138,300 (GRCm39) missense probably benign 0.04
R6039:Muc1 UTSW 3 89,139,336 (GRCm39) missense probably damaging 1.00
R6039:Muc1 UTSW 3 89,139,336 (GRCm39) missense probably damaging 1.00
R6931:Muc1 UTSW 3 89,136,466 (GRCm39) unclassified probably benign
R7400:Muc1 UTSW 3 89,137,953 (GRCm39) missense possibly damaging 0.63
R8210:Muc1 UTSW 3 89,138,906 (GRCm39) missense probably damaging 1.00
R8258:Muc1 UTSW 3 89,139,341 (GRCm39) missense probably damaging 1.00
R8259:Muc1 UTSW 3 89,139,341 (GRCm39) missense probably damaging 1.00
R8714:Muc1 UTSW 3 89,138,821 (GRCm39) missense possibly damaging 0.95
R8715:Muc1 UTSW 3 89,138,821 (GRCm39) missense possibly damaging 0.95
R8717:Muc1 UTSW 3 89,138,821 (GRCm39) missense possibly damaging 0.95
R8851:Muc1 UTSW 3 89,138,425 (GRCm39) missense probably benign 0.08
R8854:Muc1 UTSW 3 89,139,412 (GRCm39) missense probably damaging 1.00
R9314:Muc1 UTSW 3 89,138,825 (GRCm39) missense probably damaging 1.00
R9584:Muc1 UTSW 3 89,138,373 (GRCm39) missense probably benign 0.22
R9706:Muc1 UTSW 3 89,138,888 (GRCm39) missense probably benign 0.12
X0065:Muc1 UTSW 3 89,137,593 (GRCm39) unclassified probably benign
Posted On 2015-04-16