Incidental Mutation 'IGL01549:Muc1'
ID90545
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Muc1
Ensembl Gene ENSMUSG00000042784
Gene Namemucin 1, transmembrane
SynonymsEMA, CD227, Muc-1
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.320) question?
Stock #IGL01549
Quality Score
Status
Chromosome3
Chromosomal Location89229057-89233381 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 89231810 bp
ZygosityHeterozygous
Amino Acid Change Proline to Serine at position 533 (P533S)
Ref Sequence ENSEMBL: ENSMUSP00000041963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029682] [ENSMUST00000041022] [ENSMUST00000041142] [ENSMUST00000090924] [ENSMUST00000107464] [ENSMUST00000143637] [ENSMUST00000174126]
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 damaging
Transcript: ENSMUST00000041142
AA Change: P533S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041963
Gene: ENSMUSG00000042784
AA Change: P533S

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: ENSMUST00000126315
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139206
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139419
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146844
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 noncoding transcript
Transcript: ENSMUST00000174324
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503L19Rik C T 18: 70,468,035 V259I possibly damaging Het
Abhd4 C T 14: 54,267,132 T273I probably damaging Het
Adamtsl3 T C 7: 82,612,448 S1691P probably damaging Het
Anapc1 A G 2: 128,653,170 S901P probably benign Het
Ank3 C T 10: 69,932,420 S56F probably damaging Het
Ccdc74a A G 16: 17,650,542 S343G probably benign Het
Clec7a A T 6: 129,472,677 Y3* probably null Het
Il6 A G 5: 30,019,471 T170A probably benign Het
Itgax C A 7: 128,131,206 probably null Het
Lrrc17 A T 5: 21,570,290 R283S probably benign Het
Olfr1084 A C 2: 86,639,361 S116A probably benign Het
Olfr1084 T C 2: 86,639,532 M59V possibly damaging Het
Olfr1226 C T 2: 89,193,789 V82I probably benign Het
Olfr1426 T A 19: 12,087,965 I276F probably benign Het
Olfr16 T C 1: 172,956,974 Y60H probably damaging Het
Olfr702 T C 7: 106,824,029 I166V probably benign Het
Pcnt A C 10: 76,367,486 probably null Het
Pde4b A T 4: 102,605,068 D647V probably damaging Het
Phldb2 T C 16: 45,774,318 M875V probably benign Het
Prkar2b T C 12: 32,061,072 E4G possibly damaging Het
Rab2a C A 4: 8,582,393 S125Y probably benign Het
Samm50 A G 15: 84,202,781 I264V probably benign Het
Sgsh C T 11: 119,350,929 A90T probably damaging Het
Tap2 A G 17: 34,214,329 T489A probably benign Het
Wdr38 T G 2: 39,000,718 S201R probably damaging Het
Zfhx4 A G 3: 5,399,462 D1560G probably damaging Het
Zfp462 A G 4: 55,013,181 T568A probably damaging Het
Other mutations in Muc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01152:Muc1 APN 3 89230754 missense probably benign 0.01
IGL01969:Muc1 APN 3 89232006 missense probably damaging 1.00
IGL02233:Muc1 APN 3 89231628 missense probably benign 0.11
IGL03160:Muc1 APN 3 89233024 missense possibly damaging 0.89
R0670:Muc1 UTSW 3 89230532 missense probably benign 0.00
R0682:Muc1 UTSW 3 89231132 missense probably damaging 1.00
R0702:Muc1 UTSW 3 89230220 missense probably benign 0.00
R0744:Muc1 UTSW 3 89230328 missense possibly damaging 0.92
R1137:Muc1 UTSW 3 89230438 missense probably benign 0.00
R1270:Muc1 UTSW 3 89232107 missense probably damaging 1.00
R1673:Muc1 UTSW 3 89231772 missense possibly damaging 0.76
R1869:Muc1 UTSW 3 89231810 missense probably damaging 1.00
R2169:Muc1 UTSW 3 89231596 missense probably damaging 1.00
R4460:Muc1 UTSW 3 89231563 missense probably damaging 0.98
R4461:Muc1 UTSW 3 89231563 missense probably damaging 0.98
R4672:Muc1 UTSW 3 89232077 missense probably damaging 0.99
R5892:Muc1 UTSW 3 89230993 missense probably benign 0.04
R6039:Muc1 UTSW 3 89232029 missense probably damaging 1.00
R6039:Muc1 UTSW 3 89232029 missense probably damaging 1.00
R6931:Muc1 UTSW 3 89229159 unclassified probably benign
R7400:Muc1 UTSW 3 89230646 missense possibly damaging 0.63
R8210:Muc1 UTSW 3 89231599 missense probably damaging 1.00
R8258:Muc1 UTSW 3 89232034 missense probably damaging 1.00
R8259:Muc1 UTSW 3 89232034 missense probably damaging 1.00
R8714:Muc1 UTSW 3 89231514 missense possibly damaging 0.95
R8715:Muc1 UTSW 3 89231514 missense possibly damaging 0.95
R8717:Muc1 UTSW 3 89231514 missense possibly damaging 0.95
R8851:Muc1 UTSW 3 89231118 missense probably benign 0.08
R8854:Muc1 UTSW 3 89232105 missense probably damaging 1.00
X0065:Muc1 UTSW 3 89230286 unclassified probably benign
Posted On2013-12-09