Incidental Mutation 'R3727:Gm44501'
ID 270850
Institutional Source Beutler Lab
Gene Symbol Gm44501
Ensembl Gene ENSMUSG00000090897
Gene Name predicted readthrough transcript, 44501
Synonyms Esp6Esp5
MMRRC Submission 040718-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.112) question?
Stock # R3727 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 40872398-40890440 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 40887506 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 8 (F8S)
Ref Sequence ENSEMBL: ENSMUSP00000128205 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000167713]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000167713
AA Change: F8S
SMART Domains Protein: ENSMUSP00000128205
Gene: ENSMUSG00000090897
AA Change: F8S

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:ESP 24 84 2e-24 PFAM
Meta Mutation Damage Score 0.0869 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 100% (39/39)
MGI Phenotype FUNCTION: This locus represents naturally occurring readthrough transcription between the neighboring Esp6 (exocrine gland secreted peptide 6) and Esp5 (exocrine gland secreted peptide 5) genes on chromosome 17. The readthrough transcript encodes a protein that shares sequence identity with the downstream gene product, but is shorter at its N-terminus. [provided by RefSeq, Dec 2013]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago2 C T 15: 72,985,706 (GRCm39) V630M probably damaging Het
Alk T C 17: 72,208,395 (GRCm39) probably benign Het
Atp6v0a1 T A 11: 100,921,246 (GRCm39) S243T probably benign Het
BC035044 C A 6: 128,867,822 (GRCm39) G37* probably null Het
C3 G T 17: 57,514,379 (GRCm39) N1435K possibly damaging Het
Caly T C 7: 139,650,417 (GRCm39) E175G probably damaging Het
Ccng2 T C 5: 93,422,810 (GRCm39) F330S probably damaging Het
Cemip2 G A 19: 21,822,075 (GRCm39) A1157T probably benign Het
Cyp2c38 A G 19: 39,380,739 (GRCm39) probably benign Het
Cypt1 T A X: 16,389,674 (GRCm39) L128* probably null Het
Dmgdh A G 13: 93,828,575 (GRCm39) N239D probably damaging Het
Dnah8 C T 17: 30,958,622 (GRCm39) Q2155* probably null Het
Dpp3 A G 19: 4,973,213 (GRCm39) I127T probably benign Het
Eps15 G T 4: 109,227,882 (GRCm39) probably benign Het
Exosc10 A G 4: 148,649,734 (GRCm39) D388G probably damaging Het
Flt3 C A 5: 147,291,733 (GRCm39) R572S probably damaging Het
Hormad2 C A 11: 4,358,598 (GRCm39) G270C probably benign Het
Ifrd2 C T 9: 107,468,881 (GRCm39) R40* probably null Het
Ina G A 19: 47,004,158 (GRCm39) R322H possibly damaging Het
Kif13b A G 14: 65,003,197 (GRCm39) probably benign Het
Lrp2 T C 2: 69,340,773 (GRCm39) N1034S probably damaging Het
Macf1 T A 4: 123,353,104 (GRCm39) E1770V probably damaging Het
Mpi T C 9: 57,452,132 (GRCm39) I381M possibly damaging Het
Nfix CAAAAA CAAAA 8: 85,442,876 (GRCm39) probably null Het
Nt5c C T 11: 115,381,474 (GRCm39) W185* probably null Het
Or2j3 A T 17: 38,616,310 (GRCm39) I14N possibly damaging Het
Or2y1e G A 11: 49,218,622 (GRCm39) R128H probably benign Het
Pcdhga9 G A 18: 37,871,995 (GRCm39) R608H probably benign Het
Pdzrn3 T A 6: 101,133,906 (GRCm39) D441V probably damaging Het
Rab42 A G 4: 132,029,964 (GRCm39) M86T probably benign Het
Slc52a3 C T 2: 151,847,701 (GRCm39) P270S probably benign Het
Stpg2 T C 3: 139,004,257 (GRCm39) F278S probably damaging Het
Styxl2 G A 1: 165,927,075 (GRCm39) R846C probably damaging Het
Tmem240 T C 4: 155,824,235 (GRCm39) probably benign Het
Vmn2r22 A G 6: 123,627,584 (GRCm39) L4P possibly damaging Het
Vmn2r95 C T 17: 18,661,744 (GRCm39) Q497* probably null Het
Wnk1 T C 6: 119,969,414 (GRCm39) H347R probably damaging Het
Zmym2 A T 14: 57,156,806 (GRCm39) probably benign Het
Other mutations in Gm44501
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0141:Gm44501 UTSW 17 40,889,744 (GRCm39) missense probably benign 0.01
R2420:Gm44501 UTSW 17 40,889,600 (GRCm39) missense possibly damaging 0.93
R4484:Gm44501 UTSW 17 40,887,507 (GRCm39) missense unknown
R4735:Gm44501 UTSW 17 40,889,810 (GRCm39) missense probably benign 0.00
R4795:Gm44501 UTSW 17 40,889,605 (GRCm39) missense probably benign 0.01
R4888:Gm44501 UTSW 17 40,887,515 (GRCm39) missense unknown
R4904:Gm44501 UTSW 17 40,889,884 (GRCm39) missense possibly damaging 0.46
R5057:Gm44501 UTSW 17 40,889,563 (GRCm39) missense probably benign 0.00
R7429:Gm44501 UTSW 17 40,887,517 (GRCm39) missense probably null
R7746:Gm44501 UTSW 17 40,889,720 (GRCm39) missense possibly damaging 0.63
R9331:Gm44501 UTSW 17 40,889,620 (GRCm39) missense probably benign 0.07
R9476:Gm44501 UTSW 17 40,889,820 (GRCm39) missense possibly damaging 0.86
R9483:Gm44501 UTSW 17 40,889,872 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CAGCAAGGTTATCAGTCAAGTGC -3'
(R):5'- GCCCTGTTATATGCTCCAAGAC -3'

Sequencing Primer
(F):5'- CAAGGTTATCAGTCAAGTGCTTTAGG -3'
(R):5'- GCTCCAAGACACAAATGAGAATATTG -3'
Posted On 2015-03-18