Incidental Mutation 'R4013:Esp34'
ID311839
Institutional Source Beutler Lab
Gene Symbol Esp34
Ensembl Gene ENSMUSG00000092244
Gene Nameexocrine gland secreted peptide 34
SynonymsGm20410
MMRRC Submission 040950-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.059) question?
Stock #R4013 (G1)
Quality Score225
Status Validated
Chromosome17
Chromosomal Location38554192-38560621 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to A at 38559555 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Stop codon at position 45 (C45*)
Ref Sequence ENSEMBL: ENSMUSP00000136619 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000173055] [ENSMUST00000178654]
Predicted Effect probably null
Transcript: ENSMUST00000173055
AA Change: C113*
SMART Domains Protein: ENSMUSP00000133675
Gene: ENSMUSG00000092244
AA Change: C113*

DomainStartEndE-ValueType
transmembrane domain 66 88 N/A INTRINSIC
Pfam:ESP 92 147 9.1e-19 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000178654
AA Change: C45*
SMART Domains Protein: ENSMUSP00000136619
Gene: ENSMUSG00000092244
AA Change: C45*

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
low complexity region 30 44 N/A INTRINSIC
low complexity region 77 83 N/A INTRINSIC
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 92.4%
Validation Efficiency 98% (47/48)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 T C 7: 46,018,680 Q168R probably benign Het
Adgrg3 A G 8: 95,035,099 probably benign Het
Apold1 A G 6: 134,983,906 I108V probably benign Het
Atp6v0a2 G A 5: 124,712,796 V429M probably damaging Het
Cbln4 A T 2: 172,037,557 M137K probably damaging Het
Cfap57 A G 4: 118,593,143 V594A probably benign Het
Chd9 A G 8: 90,973,169 E28G possibly damaging Het
Clip4 T A 17: 71,856,546 C704* probably null Het
Col8a2 T A 4: 126,311,115 probably benign Het
Cyp3a59 A G 5: 146,079,383 T17A probably benign Het
Cyp4f14 G A 17: 32,916,879 Q3* probably null Het
Cysltr2 A G 14: 73,029,565 I235T probably damaging Het
Gabrg2 T C 11: 41,971,880 K126E possibly damaging Het
Gm4846 A C 1: 166,494,680 probably null Het
Igsf21 T C 4: 140,037,469 N165S possibly damaging Het
Kcnf1 A G 12: 17,175,993 F76L probably benign Het
Kcns1 A G 2: 164,168,257 V194A probably damaging Het
Kdm5a T A 6: 120,394,106 Y504N probably damaging Het
Kdm5b A G 1: 134,627,329 Y1325C possibly damaging Het
Kif1a T C 1: 93,076,292 D156G probably damaging Het
Lrp1b A G 2: 40,802,984 F3401L possibly damaging Het
Lrrc63 A G 14: 75,098,291 Y460H probably damaging Het
Myo15b G T 11: 115,871,456 E1201* probably null Het
Ndor1 A T 2: 25,250,150 I84K probably damaging Het
Ndst4 T A 3: 125,683,170 Y15N probably damaging Het
Olfr1019 A G 2: 85,841,381 S137P probably damaging Het
Olfr609 T C 7: 103,492,633 T82A probably benign Het
Pik3r6 T A 11: 68,533,521 D317E possibly damaging Het
Ppp2r1a G A 17: 20,951,347 R28H probably damaging Het
Ptch1 T G 13: 63,524,959 E944A probably benign Het
Ptpn12 G A 5: 20,992,743 P700L probably benign Het
Setx GTGGCT GT 2: 29,154,061 probably null Het
Slc39a13 T C 2: 91,064,902 probably null Het
Smarca2 G A 19: 26,683,927 probably null Het
Taok1 A T 11: 77,559,833 L371H possibly damaging Het
Tas2r116 A G 6: 132,856,267 H277R probably damaging Het
Treml4 G A 17: 48,264,809 R80Q probably benign Het
Trim9 G A 12: 70,346,352 H273Y probably damaging Het
Tyr A G 7: 87,437,940 S455P probably benign Het
Vmn1r214 G A 13: 23,035,350 C338Y probably benign Het
Vmn2r52 G A 7: 10,170,676 T412I probably benign Het
Wdr70 A T 15: 8,079,214 C149* probably null Het
Wdr93 T A 7: 79,768,411 V294E possibly damaging Het
Other mutations in Esp34
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1479:Esp34 UTSW 17 38554328 utr 5 prime probably benign
R1854:Esp34 UTSW 17 38559533 missense possibly damaging 0.85
R3908:Esp34 UTSW 17 38559641 missense possibly damaging 0.92
R4392:Esp34 UTSW 17 38559491 missense possibly damaging 0.51
R6008:Esp34 UTSW 17 38554227 utr 5 prime probably benign
R7522:Esp34 UTSW 17 38559541 missense possibly damaging 0.71
R7532:Esp34 UTSW 17 38559620 missense possibly damaging 0.93
R7554:Esp34 UTSW 17 38555891 missense probably benign 0.02
R7686:Esp34 UTSW 17 38559643 missense possibly damaging 0.71
R8008:Esp34 UTSW 17 38559599 missense possibly damaging 0.71
Predicted Primers PCR Primer
(F):5'- TTGAGTGTCAGGATATCAGTTTAGC -3'
(R):5'- GAATCTCACTGGGTCCATTACTTG -3'

Sequencing Primer
(F):5'- AGAATTAGTCTTGATCTCGCAGTCTC -3'
(R):5'- CTTGGAGTAACAACCTAGTTTTTGG -3'
Posted On2015-04-29