Incidental Mutation 'R6407:Mup8'
ID514484
Institutional Source Beutler Lab
Gene Symbol Mup8
Ensembl Gene ENSMUSG00000078687
Gene Namemajor urinary protein 8
SynonymsGm12809
MMRRC Submission
Accession Numbers
Is this an essential gene? Not available question?
Stock #R6407 (G1)
Quality Score119.008
Status Not validated
Chromosome4
Chromosomal Location60218621-60222599 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 60220394 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 113 (T113S)
Ref Sequence ENSEMBL: ENSMUSP00000092668 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095058] [ENSMUST00000163931]
Predicted Effect possibly damaging
Transcript: ENSMUST00000095058
AA Change: T113S

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000092668
Gene: ENSMUSG00000078687
AA Change: T113S

DomainStartEndE-ValueType
low complexity region 4 16 N/A INTRINSIC
Pfam:Lipocalin 34 173 1.1e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163931
AA Change: T113S

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000128910
Gene: ENSMUSG00000078687
AA Change: T113S

DomainStartEndE-ValueType
low complexity region 4 16 N/A INTRINSIC
Pfam:Lipocalin 34 173 3.1e-33 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.6%
Validation Efficiency 100% (36/36)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932415D10Rik A G 10: 82,293,811 S1122P probably benign Het
Alpk2 T C 18: 65,289,738 Y1963C probably benign Het
Bptf T A 11: 107,111,126 N387Y probably damaging Het
C1ql2 T C 1: 120,341,611 L165P probably damaging Het
Col5a2 C A 1: 45,376,778 C1403F probably damaging Het
Gab1 C A 8: 80,788,597 R364L possibly damaging Het
Htr3a G T 9: 48,901,055 Y250* probably null Het
Ighg2c T C 12: 113,288,651 K94E unknown Het
Ighg3 T C 12: 113,360,150 N206S unknown Het
Il1f5 A G 2: 24,281,353 Y151C probably damaging Het
Kif22 G A 7: 127,033,203 R312C probably damaging Het
Lap3 T A 5: 45,511,925 V472E probably damaging Het
Mast3 T C 8: 70,782,128 T762A probably benign Het
Mfsd12 T C 10: 81,362,233 probably null Het
Mrpl39 T C 16: 84,732,385 K123R probably benign Het
Nhp2 T C 11: 51,619,903 V29A probably benign Het
Olfr307 T C 7: 86,336,069 E109G possibly damaging Het
Pex3 T C 10: 13,546,368 R63G probably damaging Het
Pfkl A G 10: 77,988,673 probably null Het
Rims2 T C 15: 39,452,328 S617P probably damaging Het
Rnf223 A T 4: 156,132,359 T64S probably damaging Het
Rrp12 C T 19: 41,883,742 V432M probably damaging Het
Sag T C 1: 87,814,806 V100A probably benign Het
Slc17a7 C T 7: 45,169,926 A167V probably benign Het
Slc38a6 T C 12: 73,310,175 F115S probably damaging Het
Spdye4a T C 5: 143,225,699 T37A probably benign Het
Sphk2 T C 7: 45,712,600 T138A possibly damaging Het
Srgap3 T C 6: 112,723,006 S1004G probably damaging Het
Sult1a1 T C 7: 126,673,184 probably null Het
Tmem212 A G 3: 27,884,839 V166A probably benign Het
Tor4a A G 2: 25,194,940 L317P probably benign Het
Trim43c A T 9: 88,840,414 T38S probably benign Het
Tshz1 C A 18: 84,015,966 V106F possibly damaging Het
Yap1 A G 9: 7,962,372 M225T possibly damaging Het
Zcchc11 G T 4: 108,558,782 E1648D probably damaging Het
Zfp74 T C 7: 29,935,623 E220G probably damaging Het
Other mutations in Mup8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02442:Mup8 APN 4 60219695 missense probably damaging 0.99
IGL03102:Mup8 APN 4 60219746 missense probably benign 0.29
IGL03291:Mup8 APN 4 60221950 missense probably damaging 0.99
R5159:Mup8 UTSW 4 60221062 missense probably benign 0.34
R5371:Mup8 UTSW 4 60222423 missense probably benign 0.00
R6006:Mup8 UTSW 4 60220403 missense probably benign 0.43
R6931:Mup8 UTSW 4 60220322 missense probably damaging 1.00
R7172:Mup8 UTSW 4 60222425 nonsense probably null
R7607:Mup8 UTSW 4 60222035 missense probably benign 0.01
R7757:Mup8 UTSW 4 60220332 missense probably benign 0.14
R7757:Mup8 UTSW 4 60220333 missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- TTACAAAGAGGTAGGCCCAAGC -3'
(R):5'- TCACTAGTGGTGTGGACCTCTC -3'

Sequencing Primer
(F):5'- ACTTTACCATAGAGCCCC -3'
(R):5'- TGTGGACCTCTCAGAGTCC -3'
Posted On2018-05-04