Incidental Mutation 'IGL00955:Mup11'
ID27299
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mup11
Ensembl Gene ENSMUSG00000073834
Gene Namemajor urinary protein 11
SynonymsGm12549
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL00955
Quality Score
Status
Chromosome4
Chromosomal Location60658466-60662411 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 60659550 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 175 (R175H)
Ref Sequence ENSEMBL: ENSMUSP00000095654 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084544] [ENSMUST00000098046]
Predicted Effect probably benign
Transcript: ENSMUST00000084544
AA Change: R88H

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000081592
Gene: ENSMUSG00000073834
AA Change: R88H

DomainStartEndE-ValueType
Pfam:Lipocalin 1 87 2.9e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000098046
AA Change: R175H

PolyPhen 2 Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000095654
Gene: ENSMUSG00000073834
AA Change: R175H

DomainStartEndE-ValueType
low complexity region 4 14 N/A INTRINSIC
Pfam:Lipocalin 35 174 3.4e-34 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148206
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154733
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl11 A T 14: 61,311,242 Q167L probably benign Het
Ces3a T A 8: 105,050,570 V175E probably damaging Het
Cherp C T 8: 72,470,194 E140K probably damaging Het
Clpx A T 9: 65,324,270 T546S probably damaging Het
Csgalnact2 A G 6: 118,129,264 L31P probably damaging Het
Cxcr1 A T 1: 74,192,220 F214L probably benign Het
Cyp2c67 T A 19: 39,643,385 T123S possibly damaging Het
Dbt G A 3: 116,546,114 G384S probably benign Het
Dzank1 G A 2: 144,490,174 T414I probably benign Het
Erich3 A G 3: 154,748,519 I641V probably benign Het
Gtf2e1 A T 16: 37,535,920 D83E possibly damaging Het
Hars2 T C 18: 36,789,357 probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Kcnh2 T C 5: 24,324,966 D372G probably damaging Het
Kcnk2 A T 1: 189,243,014 I264N probably damaging Het
Kctd4 A G 14: 75,963,228 D213G probably damaging Het
Lhx9 T C 1: 138,828,680 T323A possibly damaging Het
Lilra6 C A 7: 3,911,404 probably benign Het
Meig1 T C 2: 3,409,274 D63G probably damaging Het
Mov10l1 A G 15: 88,994,989 Y184C probably damaging Het
Mrpl24 T A 3: 87,922,219 L91* probably null Het
Nbea T C 3: 56,005,472 K965E possibly damaging Het
Olfr598 C A 7: 103,329,321 H278Q probably damaging Het
Papss1 G A 3: 131,599,949 E252K probably benign Het
Robo2 A T 16: 74,015,972 L278Q probably damaging Het
Sned1 A T 1: 93,274,403 I638F probably damaging Het
Spin1 T C 13: 51,144,541 probably null Het
Taar9 T C 10: 24,109,531 T2A probably benign Het
Tbc1d8b T C X: 139,725,880 probably null Het
Other mutations in Mup11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01118:Mup11 APN 4 60659780 missense probably damaging 1.00
IGL01914:Mup11 APN 4 60659822 splice site probably benign
IGL02991:Mup11 UTSW 4 60662276 small deletion probably benign
R5980:Mup11 UTSW 4 60660888 missense possibly damaging 0.67
R6164:Mup11 UTSW 4 60662240 missense possibly damaging 0.49
R6589:Mup11 UTSW 4 60659541 missense possibly damaging 0.68
R7208:Mup11 UTSW 4 60659726 missense possibly damaging 0.80
R8072:Mup11 UTSW 4 60659778 missense probably damaging 1.00
Z1176:Mup11 UTSW 4 60660215 missense probably benign 0.02
Posted On2013-04-17