Incidental Mutation 'R1430:Eppin'
ID 161474
Institutional Source Beutler Lab
Gene Symbol Eppin
Ensembl Gene ENSMUSG00000017733
Gene Name epididymal peptidase inhibitor
Synonyms Spinlw1, 1700024E17Rik
MMRRC Submission 039486-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.049) question?
Stock # R1430 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 164430263-164435491 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 164431323 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 101 (T101M)
Ref Sequence ENSEMBL: ENSMUSP00000099389 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099096] [ENSMUST00000103100] [ENSMUST00000109342]
AlphaFold Q9DA01
Predicted Effect probably benign
Transcript: ENSMUST00000099096
SMART Domains Protein: ENSMUSP00000096694
Gene: ENSMUSG00000074595

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
WAP 32 73 6.23e-2 SMART
KU 75 128 1.49e-22 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000103100
AA Change: T101M

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099389
Gene: ENSMUSG00000017733
AA Change: T101M

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
WAP 32 73 3.09e-3 SMART
KU 75 128 1.05e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109342
SMART Domains Protein: ENSMUSP00000104966
Gene: ENSMUSG00000074595

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
WAP 32 73 6.23e-2 SMART
KU 75 128 1.49e-22 SMART
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 89.9%
Validation Efficiency 100% (55/55)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus represents naturally occurring read-through transcription between the neighboring SPINLW1 (serine peptidase inhibitor-like, with Kunitz and WAP domains 1) and WFDC6 (WAP four-disulfide core domain 6) genes. The read-through transcript encodes a fusion protein that shares sequence identity with the products of each individual gene. [provided by RefSeq, Nov 2010]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam3 T A 8: 25,204,287 (GRCm39) probably benign Het
Aoc2 A G 11: 101,217,321 (GRCm39) Y468C probably damaging Het
Cdyl2 A G 8: 117,306,056 (GRCm39) probably benign Het
Cfh A G 1: 140,030,436 (GRCm39) probably benign Het
Cyp2j9 G T 4: 96,472,201 (GRCm39) probably benign Het
Dapk1 T G 13: 60,901,957 (GRCm39) F929V probably benign Het
Dhx9 A T 1: 153,359,493 (GRCm39) M35K probably benign Het
Dnah5 G A 15: 28,346,003 (GRCm39) E2448K probably benign Het
Doc2b A T 11: 75,670,981 (GRCm39) C217S possibly damaging Het
Dock11 A G X: 35,333,565 (GRCm39) I2010V probably benign Het
Dram1 T C 10: 88,160,641 (GRCm39) T227A possibly damaging Het
F13a1 T C 13: 37,082,105 (GRCm39) D533G probably damaging Het
Fmo1 C A 1: 162,667,293 (GRCm39) R174L probably damaging Het
Fsip2 C A 2: 82,828,407 (GRCm39) L6735I possibly damaging Het
Gab1 G T 8: 81,515,241 (GRCm39) T359K probably benign Het
Ggta1 T C 2: 35,298,029 (GRCm39) D118G possibly damaging Het
Gramd1a A G 7: 30,832,211 (GRCm39) S609P probably damaging Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Lama1 A G 17: 68,089,150 (GRCm39) Y1607C possibly damaging Het
Lrrc24 G T 15: 76,607,992 (GRCm39) probably null Het
Mak C A 13: 41,223,760 (GRCm39) probably benign Het
Megf8 G A 7: 25,063,768 (GRCm39) R2708Q possibly damaging Het
Mettl24 T C 10: 40,613,791 (GRCm39) C177R probably damaging Het
Mgam G C 6: 40,733,305 (GRCm39) E812D probably benign Het
Mroh8 T C 2: 157,111,445 (GRCm39) R170G possibly damaging Het
Msn G A X: 95,196,325 (GRCm39) V130I probably benign Het
Ncoa4 G A 14: 31,898,679 (GRCm39) V500I probably benign Het
Or2aj5 A G 16: 19,424,752 (GRCm39) L222P probably damaging Het
Or2y1b A G 11: 49,208,928 (GRCm39) probably null Het
Or5an6 C T 19: 12,371,801 (GRCm39) T58I probably benign Het
Or8k3b T C 2: 86,520,866 (GRCm39) Y151C possibly damaging Het
Ppm1h T C 10: 122,693,004 (GRCm39) S302P probably damaging Het
Prkce T A 17: 86,866,565 (GRCm39) probably benign Het
Psenen T C 7: 30,261,815 (GRCm39) I34V probably benign Het
Rbl1 T C 2: 157,011,826 (GRCm39) T710A probably benign Het
Sdk2 C T 11: 113,729,472 (GRCm39) silent Het
Slc1a5 A G 7: 16,516,328 (GRCm39) D168G probably benign Het
Slc35e1 T C 8: 73,246,415 (GRCm39) probably benign Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Syce1 A T 7: 140,359,351 (GRCm39) probably benign Het
Tbc1d23 G T 16: 57,034,573 (GRCm39) D75E probably damaging Het
Tbk1 A G 10: 121,395,839 (GRCm39) V418A probably benign Het
Tmem132e T C 11: 82,329,122 (GRCm39) V467A probably damaging Het
Tmem241 T C 18: 12,126,651 (GRCm39) D144G probably benign Het
Tsc2 A G 17: 24,817,997 (GRCm39) probably null Het
Ubxn4 T A 1: 128,202,617 (GRCm39) F420I probably benign Het
Usp34 A G 11: 23,409,151 (GRCm39) T2645A probably damaging Het
Utp14b A G 1: 78,644,111 (GRCm39) K670E probably benign Het
Zfp407 C T 18: 84,227,580 (GRCm39) V2010M probably benign Het
Zfp879 A G 11: 50,724,784 (GRCm39) F91L probably benign Het
Zfyve26 A G 12: 79,329,591 (GRCm39) S532P probably benign Het
Other mutations in Eppin
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02441:Eppin APN 2 164,433,698 (GRCm39) nonsense probably null
R0491:Eppin UTSW 2 164,431,332 (GRCm39) missense possibly damaging 0.90
R4613:Eppin UTSW 2 164,431,243 (GRCm39) nonsense probably null
R5119:Eppin UTSW 2 164,431,371 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CTGTCAGGTCAGAGAAAGACACAGC -3'
(R):5'- GATGCAGATAGCCACCGTAACATCC -3'

Sequencing Primer
(F):5'- TGCCTTGGGACAGGTCAAC -3'
(R):5'- TGTTGAACCGCTGGAGC -3'
Posted On 2014-03-14