Incidental Mutation 'R6475:Mup9'
ID517365
Institutional Source Beutler Lab
Gene Symbol Mup9
Ensembl Gene ENSMUSG00000078686
Gene Namemajor urinary protein 9
SynonymsGm14076
MMRRC Submission
Accession Numbers
Is this an essential gene? Not available question?
Stock #R6475 (G1)
Quality Score162.009
Status Not validated
Chromosome4
Chromosomal Location60418046-60421952 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 60419806 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 30 (D30E)
Ref Sequence ENSEMBL: ENSMUSP00000139730 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107506] [ENSMUST00000118759] [ENSMUST00000122381] [ENSMUST00000132829]
Predicted Effect probably benign
Transcript: ENSMUST00000107506
AA Change: D116E

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000103130
Gene: ENSMUSG00000078686
AA Change: D116E

DomainStartEndE-ValueType
low complexity region 4 13 N/A INTRINSIC
Pfam:Lipocalin 34 173 3.5e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118759
AA Change: D116E

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000113461
Gene: ENSMUSG00000078686
AA Change: D116E

DomainStartEndE-ValueType
low complexity region 4 13 N/A INTRINSIC
Pfam:Lipocalin 34 173 9.3e-34 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122177
SMART Domains Protein: ENSMUSP00000113246
Gene: ENSMUSG00000078686

DomainStartEndE-ValueType
low complexity region 4 13 N/A INTRINSIC
Pfam:Lipocalin 34 173 4.7e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000122381
AA Change: D116E

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000113741
Gene: ENSMUSG00000078686
AA Change: D116E

DomainStartEndE-ValueType
low complexity region 4 13 N/A INTRINSIC
Pfam:Lipocalin 34 173 3.5e-34 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127151
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132461
Predicted Effect possibly damaging
Transcript: ENSMUST00000132829
AA Change: D30E

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000139730
Gene: ENSMUSG00000078686
AA Change: D30E

DomainStartEndE-ValueType
Pfam:Lipocalin 1 87 2.9e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137025
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.0%
Validation Efficiency 96% (54/56)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asb5 T A 8: 54,550,575 V44E probably damaging Het
Bmpr2 T A 1: 59,868,344 D865E probably damaging Het
Ccr4 A G 9: 114,492,979 V6A probably benign Het
Cd209a A T 8: 3,747,031 D102E probably damaging Het
Cdh18 A G 15: 23,226,936 D161G possibly damaging Het
Cog4 T A 8: 110,880,894 I671N possibly damaging Het
Col14a1 T G 15: 55,445,822 probably benign Het
Cpne6 A G 14: 55,513,653 D173G probably damaging Het
Daglb G T 5: 143,481,651 V275L probably benign Het
Defb43 G T 14: 63,011,872 probably null Het
Dhx30 A G 9: 110,085,052 V1022A possibly damaging Het
Egfem1 A T 3: 29,657,163 K297M probably damaging Het
Egfr A G 11: 16,891,259 I717V probably benign Het
Eif2ak1 T G 5: 143,818,010 probably null Het
Epb42 T C 2: 121,027,133 Y307C possibly damaging Het
Erlec1 G A 11: 30,948,442 Q10* probably null Het
Fam185a A G 5: 21,425,283 D39G probably benign Het
Fbxl4 T A 4: 22,433,661 D599E probably damaging Het
Fgfr2 T A 7: 130,201,120 T268S probably benign Het
Gabra1 A T 11: 42,162,555 M84K probably benign Het
Gba A G 3: 89,205,928 D222G probably benign Het
Gm3409 T A 5: 146,537,786 H37Q possibly damaging Het
Gm4559 A G 7: 142,274,150 C72R unknown Het
Grik4 T C 9: 42,629,008 N292S probably benign Het
Haao A G 17: 83,831,684 S274P possibly damaging Het
Hsd17b4 T A 18: 50,172,262 probably null Het
Igdcc4 A T 9: 65,120,321 S222C probably damaging Het
Iqub T A 6: 24,449,745 N707I probably damaging Het
Itgb7 T A 15: 102,216,266 D772V probably benign Het
Kif14 T C 1: 136,527,411 L1607P probably damaging Het
Klf5 A G 14: 99,301,381 T77A probably benign Het
Klhl29 C T 12: 5,091,030 V605I probably damaging Het
Map4k1 T C 7: 28,987,022 V105A probably damaging Het
Mctp2 A T 7: 72,200,344 probably null Het
Med12l A G 3: 59,257,079 E1364G probably damaging Het
Naip1 T C 13: 100,409,088 R1311G probably damaging Het
Olfr1306 G A 2: 111,912,859 Q24* probably null Het
Olfr56 C T 11: 49,134,933 T247I probably benign Het
Olfr706 A G 7: 106,886,397 V140A probably benign Het
Olfr945 T A 9: 39,258,082 M197L probably benign Het
Pkd1l3 A C 8: 109,623,212 T230P unknown Het
Pthlh G T 6: 147,257,190 H91N probably damaging Het
Rapgef5 T A 12: 117,718,207 V239D probably damaging Het
Rita1 G A 5: 120,611,570 T26I probably damaging Het
Robo3 T C 9: 37,423,290 T615A probably damaging Het
Rpp38 T C 2: 3,329,607 D86G probably benign Het
Sec31a T C 5: 100,385,270 T539A probably damaging Het
Senp2 G T 16: 22,023,800 V205L probably damaging Het
Sept10 T C 10: 59,192,311 N63D possibly damaging Het
Sez6 A G 11: 77,973,844 Het
Spesp1 C T 9: 62,272,433 V398I probably benign Het
Tmbim7 G A 5: 3,664,319 G19S probably benign Het
Tnni3k A T 3: 154,941,058 L431* probably null Het
Trdn T A 10: 33,464,555 probably null Het
Tubb2a A G 13: 34,075,459 V116A possibly damaging Het
Ush1c T C 7: 46,229,219 D124G probably damaging Het
Zfp768 A T 7: 127,344,655 F103L probably damaging Het
Zfp799 A G 17: 32,820,846 S149P probably damaging Het
Other mutations in Mup9
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1619:Mup9 UTSW 4 60421879 utr 5 prime probably benign
R6246:Mup9 UTSW 4 60419810 missense probably damaging 1.00
R6792:Mup9 UTSW 4 60421355 missense possibly damaging 0.47
R7255:Mup9 UTSW 4 60421337 missense probably benign
R7999:Mup9 UTSW 4 60418203 missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- GGTTACAAAGAGGTAGGCCC -3'
(R):5'- ACTAGTGGTGTGGACCTCTCAG -3'

Sequencing Primer
(F):5'- TTACAAAGAGGTAGGCCCAAGCTG -3'
(R):5'- TGTGGACCTCTCAGAGTCC -3'
Posted On2018-05-21