Incidental Mutation 'R4233:Nxpe4'
ID 320968
Institutional Source Beutler Lab
Gene Symbol Nxpe4
Ensembl Gene ENSMUSG00000044229
Gene Name neurexophilin and PC-esterase domain family, member 4
Synonyms Fam55d, D930028F11Rik
MMRRC Submission 041642-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.289) question?
Stock # R4233 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 48073321-48311325 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 48310137 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 467 (T467S)
Ref Sequence ENSEMBL: ENSMUSP00000149741 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093853] [ENSMUST00000215780] [ENSMUST00000216998]
AlphaFold Q52KP5
Predicted Effect probably damaging
Transcript: ENSMUST00000093853
AA Change: T467S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000091375
Gene: ENSMUSG00000044229
AA Change: T467S

DomainStartEndE-ValueType
transmembrane domain 9 26 N/A INTRINSIC
Pfam:Neurexophilin 74 272 8.9e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000215780
AA Change: T467S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000216998
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217002
Meta Mutation Damage Score 0.6220 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.2%
Validation Efficiency 100% (53/53)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik A T 5: 138,562,454 (GRCm39) Y96N probably damaging Het
Abca15 C T 7: 120,002,202 (GRCm39) Q1572* probably null Het
Ajuba T C 14: 54,806,983 (GRCm39) R490G probably damaging Het
Akap6 T A 12: 53,186,454 (GRCm39) N1289K probably damaging Het
Ankfy1 G A 11: 72,605,310 (GRCm39) probably null Het
Aph1c A G 9: 66,740,603 (GRCm39) F41S probably damaging Het
Arhgap21 A G 2: 20,891,948 (GRCm39) V161A probably damaging Het
Arhgef18 T C 8: 3,500,317 (GRCm39) I541T possibly damaging Het
Arhgef40 T C 14: 52,227,628 (GRCm39) V458A possibly damaging Het
Atg14 T C 14: 47,788,802 (GRCm39) K184E probably benign Het
Casp8 T C 1: 58,883,929 (GRCm39) V432A probably damaging Het
Ccar2 T C 14: 70,388,540 (GRCm39) T169A possibly damaging Het
Cfap58 G A 19: 47,963,994 (GRCm39) V541M possibly damaging Het
Coro2b T C 9: 62,333,467 (GRCm39) E376G possibly damaging Het
Dnah11 T C 12: 117,880,526 (GRCm39) T3865A probably damaging Het
Dync2h1 T C 9: 7,134,360 (GRCm39) E1549G probably benign Het
Ercc6l2 T C 13: 64,019,982 (GRCm39) probably benign Het
Fbxo32 G T 15: 58,055,729 (GRCm39) T135K possibly damaging Het
Fhip2b A C 14: 70,824,318 (GRCm39) V473G probably damaging Het
Fras1 A T 5: 96,862,235 (GRCm39) I2205F possibly damaging Het
Gm12034 A G 11: 20,396,785 (GRCm39) noncoding transcript Het
Gm26678 T C 3: 54,540,504 (GRCm39) noncoding transcript Het
Gm5108 C A 5: 68,132,496 (GRCm39) T55K unknown Het
Gpa33 A T 1: 165,974,340 (GRCm39) D59V probably damaging Het
Gpn2 T A 4: 133,312,016 (GRCm39) Y83N probably damaging Het
Gzf1 C T 2: 148,528,453 (GRCm39) P460S possibly damaging Het
Ifi203 A T 1: 173,764,099 (GRCm39) S124R possibly damaging Het
Impg1 A G 9: 80,252,611 (GRCm39) L523P probably damaging Het
Ldlrap1 T A 4: 134,484,649 (GRCm39) probably null Het
Madd T C 2: 91,008,581 (GRCm39) E107G probably benign Het
Med12l T G 3: 59,164,644 (GRCm39) probably null Het
Or52n4 A G 7: 104,294,195 (GRCm39) V126A probably benign Het
Or7g30 T A 9: 19,352,886 (GRCm39) L226I probably damaging Het
Pam A T 1: 97,792,119 (GRCm39) V434D possibly damaging Het
Plxnd1 T C 6: 115,942,914 (GRCm39) N1257D probably benign Het
Prkdc C T 16: 15,653,783 (GRCm39) A3870V probably benign Het
Ralgapa1 C T 12: 55,687,429 (GRCm39) R2019Q probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Ryr2 T C 13: 11,765,611 (GRCm39) D1375G probably benign Het
Skint11 C A 4: 114,101,856 (GRCm39) Q99K probably benign Het
Slc13a2 A G 11: 78,294,361 (GRCm39) probably benign Het
Slc7a13 T C 4: 19,819,070 (GRCm39) F90S probably damaging Het
Spc24 T C 9: 21,667,498 (GRCm39) probably null Het
Stard13 A G 5: 150,986,164 (GRCm39) S331P probably benign Het
Sult2a8 T A 7: 14,147,608 (GRCm39) I228L probably benign Het
Tas2r140 A T 6: 133,031,915 (GRCm39) V281D probably damaging Het
Tmem38b T C 4: 53,840,710 (GRCm39) C66R probably damaging Het
Tshz1 C A 18: 84,034,320 (GRCm39) E29D probably benign Het
Zfp599 T A 9: 22,161,041 (GRCm39) K375* probably null Het
Other mutations in Nxpe4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01618:Nxpe4 APN 9 48,305,440 (GRCm39) missense possibly damaging 0.63
IGL01723:Nxpe4 APN 9 48,309,898 (GRCm39) missense probably benign 0.00
IGL03008:Nxpe4 APN 9 48,304,738 (GRCm39) missense probably benign 0.01
IGL03022:Nxpe4 APN 9 48,304,548 (GRCm39) missense probably damaging 0.99
IGL03271:Nxpe4 APN 9 48,304,345 (GRCm39) missense probably damaging 0.99
R0633:Nxpe4 UTSW 9 48,307,897 (GRCm39) missense probably benign
R1033:Nxpe4 UTSW 9 48,304,533 (GRCm39) missense probably damaging 1.00
R1186:Nxpe4 UTSW 9 48,304,692 (GRCm39) missense probably benign 0.23
R1296:Nxpe4 UTSW 9 48,307,793 (GRCm39) missense probably benign 0.00
R1596:Nxpe4 UTSW 9 48,307,855 (GRCm39) missense probably damaging 0.97
R1813:Nxpe4 UTSW 9 48,304,678 (GRCm39) missense possibly damaging 0.87
R2511:Nxpe4 UTSW 9 48,304,533 (GRCm39) missense probably damaging 1.00
R2902:Nxpe4 UTSW 9 48,305,446 (GRCm39) missense probably benign 0.00
R4229:Nxpe4 UTSW 9 48,304,122 (GRCm39) missense possibly damaging 0.80
R4230:Nxpe4 UTSW 9 48,304,122 (GRCm39) missense possibly damaging 0.80
R4231:Nxpe4 UTSW 9 48,310,137 (GRCm39) missense probably damaging 1.00
R4236:Nxpe4 UTSW 9 48,310,137 (GRCm39) missense probably damaging 1.00
R4296:Nxpe4 UTSW 9 48,310,284 (GRCm39) missense probably damaging 0.98
R5016:Nxpe4 UTSW 9 48,304,185 (GRCm39) missense probably benign 0.12
R5644:Nxpe4 UTSW 9 48,304,050 (GRCm39) missense probably benign 0.01
R5797:Nxpe4 UTSW 9 48,307,838 (GRCm39) missense possibly damaging 0.86
R5979:Nxpe4 UTSW 9 48,307,862 (GRCm39) missense probably benign 0.02
R6170:Nxpe4 UTSW 9 48,304,104 (GRCm39) missense probably benign 0.12
R6208:Nxpe4 UTSW 9 48,304,678 (GRCm39) missense probably benign 0.12
R6431:Nxpe4 UTSW 9 48,304,145 (GRCm39) missense probably damaging 0.99
R7475:Nxpe4 UTSW 9 48,304,640 (GRCm39) nonsense probably null
R8093:Nxpe4 UTSW 9 48,307,852 (GRCm39) missense probably benign 0.03
R8103:Nxpe4 UTSW 9 48,304,020 (GRCm39) missense probably benign
R8185:Nxpe4 UTSW 9 48,304,509 (GRCm39) missense possibly damaging 0.89
R8768:Nxpe4 UTSW 9 48,304,050 (GRCm39) missense probably benign 0.01
R8774:Nxpe4 UTSW 9 48,304,692 (GRCm39) missense probably benign 0.23
R8774-TAIL:Nxpe4 UTSW 9 48,304,692 (GRCm39) missense probably benign 0.23
R8903:Nxpe4 UTSW 9 48,310,250 (GRCm39) missense probably damaging 0.99
R9064:Nxpe4 UTSW 9 48,309,964 (GRCm39) missense probably benign 0.43
R9327:Nxpe4 UTSW 9 48,309,984 (GRCm39) missense probably benign 0.05
R9682:Nxpe4 UTSW 9 48,304,248 (GRCm39) missense probably benign 0.16
X0062:Nxpe4 UTSW 9 48,310,325 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CCCTCTTATCGGGTCATTGG -3'
(R):5'- TCTAACTACATCCTCTGGTGGG -3'

Sequencing Primer
(F):5'- GGTCATTGGTCTACTCTGTCAAAG -3'
(R):5'- GTGGACATTGTTTATGCCATATGC -3'
Posted On 2015-06-12