Incidental Mutation 'R7746:Gm44501'
ID596864
Institutional Source Beutler Lab
Gene Symbol Gm44501
Ensembl Gene ENSMUSG00000090897
Gene Namepredicted readthrough transcript, 44501
SynonymsEsp6Esp5
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.125) question?
Stock #R7746 (G1)
Quality Score225.009
Status Not validated
Chromosome17
Chromosomal Location40561507-40579549 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 40578829 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 78 (A78V)
Ref Sequence ENSEMBL: ENSMUSP00000128205 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000167713]
Predicted Effect possibly damaging
Transcript: ENSMUST00000167713
AA Change: A78V

PolyPhen 2 Score 0.627 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000128205
Gene: ENSMUSG00000090897
AA Change: A78V

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:ESP 24 84 2e-24 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik A T 2: 68,728,995 Q184L probably benign Het
9030624G23Rik T G 12: 24,074,673 S68R possibly damaging Het
Acyp1 G T 12: 85,279,058 R56S unknown Het
Angpt2 C T 8: 18,692,064 R492Q probably damaging Het
Ankrd36 T C 11: 5,687,451 L1340P possibly damaging Het
Arhgef33 G C 17: 80,347,120 probably null Het
Bach1 G A 16: 87,729,633 S661N probably benign Het
Bik T C 15: 83,541,334 I12T possibly damaging Het
C3 C T 17: 57,218,859 R841H probably damaging Het
Cacna1s G T 1: 136,069,018 R119L probably damaging Het
Cic G A 7: 25,288,782 V1632M probably damaging Het
Ctif CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC 18: 75,471,803 probably benign Het
Dchs2 A G 3: 83,128,057 H37R possibly damaging Het
Dvl1 A G 4: 155,856,239 I439V possibly damaging Het
Fam19a1 T C 6: 96,115,756 probably null Het
Fat1 G A 8: 44,951,633 D474N probably damaging Het
Foxs1 T A 2: 152,933,108 E8D probably benign Het
Garnl3 T C 2: 32,992,257 D822G probably damaging Het
Gm11397 A T 13: 33,397,858 I133L probably damaging Het
Gm11756 C T 4: 73,919,862 S29N possibly damaging Het
Gpr19 C A 6: 134,869,392 A443S probably damaging Het
Helb T C 10: 120,095,102 R729G probably null Het
Lnpep G T 17: 17,538,562 T840K probably benign Het
Mctp2 T C 7: 72,185,796 N551S probably benign Het
Mgam T G 6: 40,668,193 F635V probably damaging Het
Mlc1 G A 15: 88,964,170 A262V probably damaging Het
Muc5b A G 7: 141,862,239 Y2974C probably benign Het
Nprl3 A T 11: 32,248,150 Y208* probably null Het
Olfr1090 A T 2: 86,754,093 L215Q probably damaging Het
Olfr136 C T 17: 38,335,394 P79L probably benign Het
Pkn2 A G 3: 142,794,107 F915S probably damaging Het
Pkn3 G A 2: 30,090,584 C829Y probably benign Het
Polr1a C T 6: 71,941,512 P685S probably damaging Het
Ppp4r3b A G 11: 29,173,352 D16G probably benign Het
Ppwd1 C T 13: 104,217,206 R348H probably damaging Het
Pxdc1 T C 13: 34,639,063 T98A probably benign Het
Rhbdl1 T C 17: 25,836,193 I68V probably benign Het
Ror2 A G 13: 53,117,225 C365R probably damaging Het
Samd4b A T 7: 28,403,903 H43Q probably damaging Het
Sbf2 A T 7: 110,441,426 V398D probably benign Het
Sbno2 T C 10: 80,058,874 I1012M probably damaging Het
Strn T C 17: 78,677,372 T281A probably benign Het
Syt4 T A 18: 31,444,265 D12V probably benign Het
Tmem45a A G 16: 56,825,737 L40P probably damaging Het
Tnn G A 1: 160,114,685 P1081L probably damaging Het
Unc80 T C 1: 66,677,385 V2888A probably benign Het
Other mutations in Gm44501
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0141:Gm44501 UTSW 17 40578853 missense probably benign 0.01
R2420:Gm44501 UTSW 17 40578709 missense possibly damaging 0.93
R3727:Gm44501 UTSW 17 40576615 missense unknown
R4484:Gm44501 UTSW 17 40576616 missense unknown
R4735:Gm44501 UTSW 17 40578919 missense probably benign 0.00
R4795:Gm44501 UTSW 17 40578714 missense probably benign 0.01
R4888:Gm44501 UTSW 17 40576624 missense unknown
R4904:Gm44501 UTSW 17 40578993 missense possibly damaging 0.46
R5057:Gm44501 UTSW 17 40578672 missense probably benign 0.00
R7429:Gm44501 UTSW 17 40576626 missense probably null
Predicted Primers PCR Primer
(F):5'- GGTAAATTATGAGCTTACAGCCTC -3'
(R):5'- CAAACCCACGATGACTTTGC -3'

Sequencing Primer
(F):5'- AATTATGAGCTTACAGCCTCTTTTC -3'
(R):5'- CCACGATGACTTTGCGTTTAGAACTG -3'
Posted On2019-11-26