Incidental Mutation 'R6931:Mup8'
ID540002
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 #R6931 (G1)
Quality Score225.009
Status Not validated
Chromosome4
Chromosomal Location60218621-60222599 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 60220322 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Phenylalanine at position 137 (L137F)
Ref Sequence ENSEMBL: ENSMUSP00000128910 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095058] [ENSMUST00000163931]
Predicted Effect probably damaging
Transcript: ENSMUST00000095058
AA Change: L137F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000092668
Gene: ENSMUSG00000078687
AA Change: L137F

DomainStartEndE-ValueType
low complexity region 4 16 N/A INTRINSIC
Pfam:Lipocalin 34 173 1.1e-33 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000163931
AA Change: L137F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000128910
Gene: ENSMUSG00000078687
AA Change: L137F

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: 99.4%
  • 20x: 98.0%
Validation Efficiency 99% (77/78)
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123L14Rik T C 6: 96,165,548 T172A possibly damaging Het
2310003L06Rik T A 5: 87,970,702 I15N probably damaging Het
2900092C05Rik T A 7: 12,512,596 S6R unknown Het
Abca6 T A 11: 110,244,328 L210F probably benign Het
Abcc4 T C 14: 118,527,988 Q919R probably damaging Het
Adcy1 A G 11: 7,150,884 D811G possibly damaging Het
Akna A G 4: 63,387,102 S476P probably benign Het
Ankrd49 T C 9: 14,782,826 N15S probably benign Het
Apcdd1 A G 18: 62,933,908 D31G probably damaging Het
Aplp1 G T 7: 30,443,200 R106S probably damaging Het
Arhgap40 T C 2: 158,531,218 L132S probably benign Het
Atp8b5 G T 4: 43,364,108 probably null Het
Axl T C 7: 25,761,433 D717G probably damaging Het
Bub1 T A 2: 127,801,382 D1014V probably damaging Het
Cacna2d4 T A 6: 119,282,234 V603E possibly damaging Het
Cnot11 G C 1: 39,539,921 C289S probably damaging Het
Coasy A G 11: 101,083,581 H191R probably benign Het
Cyp11a1 A T 9: 58,025,120 N341Y possibly damaging Het
Cyp1a2 T C 9: 57,682,156 N125S probably benign Het
Cyp2j8 A T 4: 96,444,781 probably null Het
Dnah9 A T 11: 66,117,626 I791K possibly damaging Het
Ecm2 A T 13: 49,529,011 Q505H probably benign Het
Fam135a T A 1: 24,085,487 M1L probably damaging Het
Fam171a2 A G 11: 102,438,434 S500P possibly damaging Het
Fat3 A G 9: 15,959,942 S3718P possibly damaging Het
Frem1 G A 4: 82,970,677 P1085S probably damaging Het
Gcfc2 A G 6: 81,942,985 I390V probably benign Het
Gemin4 A G 11: 76,210,956 L993P probably damaging Het
Ggnbp2 T A 11: 84,833,167 D647V probably damaging Het
Gm7534 A T 4: 134,193,153 M567K probably benign Het
Gpr84 A C 15: 103,309,014 L212R probably damaging Het
Hnrnpu T C 1: 178,331,432 probably benign Het
Hspg2 G T 4: 137,540,720 C2116F probably damaging Het
Icam4 T A 9: 21,030,451 V249E probably damaging Het
Itga1 T C 13: 115,001,563 N429D probably benign Het
Kcns1 T C 2: 164,164,838 T402A probably damaging Het
Ky T A 9: 102,537,627 V246E probably damaging Het
March1 A G 8: 66,468,492 T529A probably benign Het
Med18 C G 4: 132,459,883 V102L probably damaging Het
Mlst8 T C 17: 24,477,275 D160G probably damaging Het
Mthfd1 T C 12: 76,303,698 I470T probably benign Het
Muc1 C T 3: 89,229,159 probably benign Het
Mybpc1 A T 10: 88,542,330 L341* probably null Het
Nacad A G 11: 6,601,877 F438S probably benign Het
Necap2 C A 4: 141,078,212 probably null Het
Nifk T C 1: 118,332,348 L163S possibly damaging Het
Npsr1 A G 9: 24,289,997 I73V probably benign Het
Olfr1179 G A 2: 88,402,064 T290I probably benign Het
Olfr1186 T A 2: 88,526,194 C204S possibly damaging Het
Olfr142 A T 2: 90,252,777 C70* probably null Het
Olfr715 A G 7: 107,128,901 L164P probably damaging Het
Oog3 C T 4: 144,159,353 C225Y probably benign Het
Plagl2 C A 2: 153,235,943 K39N probably benign Het
Plcg2 T A 8: 117,557,319 D118E probably benign Het
Ppp4r3b A T 11: 29,211,786 K720I possibly damaging Het
Prmt3 A T 7: 49,829,016 T442S probably benign Het
Prr14l G A 5: 32,830,691 H487Y probably damaging Het
Psmb3 G A 11: 97,703,971 V63I probably benign Het
Psmc6 T A 14: 45,343,725 I326K possibly damaging Het
Ptcd1 T C 5: 145,155,075 T405A probably benign Het
Rbm33 G A 5: 28,410,745 V29M probably damaging Het
Rsrc1 C T 3: 66,994,649 P44L unknown Het
Scarb1 T A 5: 125,284,719 I107F probably damaging Het
Slc39a12 A G 2: 14,389,375 S19G probably benign Het
Slc44a5 T C 3: 154,258,506 V503A probably benign Het
Slc9a9 T C 9: 94,670,086 S9P possibly damaging Het
Snrnp35 A C 5: 124,490,701 R192S possibly damaging Het
Tbx15 T C 3: 99,352,151 L446P probably damaging Het
Tlnrd1 A G 7: 83,882,597 F209L probably benign Het
Tmprss12 C T 15: 100,285,268 R164C probably damaging Het
Tnfsf4 T A 1: 161,417,073 F111Y possibly damaging Het
Trib2 A T 12: 15,793,639 M198K probably benign Het
Ttll8 A G 15: 88,914,304 S743P possibly damaging Het
Ush2a A T 1: 188,728,383 N2614Y probably benign Het
Usp6nl G A 2: 6,430,458 V343I possibly damaging Het
Vrtn C A 12: 84,650,242 Q589K probably benign Het
Zbed5 T A 5: 129,903,329 Y706* probably null Het
Zc3h10 A G 10: 128,544,684 V268A probably damaging Het
Zfp442 C T 2: 150,410,940 probably null 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
R6407:Mup8 UTSW 4 60220394 missense possibly damaging 0.78
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
R7874:Mup8 UTSW 4 60222420 missense probably damaging 0.99
R8349:Mup8 UTSW 4 60222382 missense probably benign
R8449:Mup8 UTSW 4 60222382 missense probably benign
Z1176:Mup8 UTSW 4 60222378 missense probably benign 0.01
Z1176:Mup8 UTSW 4 60222542 start gained probably benign
Predicted Primers PCR Primer
(F):5'- TGCCAACACAATTGACAGGC -3'
(R):5'- GATTTCATGTTGGGGTAGAACAAG -3'

Sequencing Primer
(F):5'- GACAGGCATTGGTATGATCTATCC -3'
(R):5'- GAAAAGGGTATCCAAAATTTCCTGC -3'
Posted On2018-11-06