Incidental Mutation 'R5402:Nxph4'
ID 430055
Institutional Source Beutler Lab
Gene Symbol Nxph4
Ensembl Gene ENSMUSG00000040258
Gene Name neurexophilin 4
Synonyms 1110036M10Rik
MMRRC Submission 042973-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R5402 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 127361342-127370428 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 127362133 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 253 (C253S)
Ref Sequence ENSEMBL: ENSMUSP00000092900 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026470] [ENSMUST00000095266] [ENSMUST00000219239]
AlphaFold G3X9N5
Predicted Effect probably benign
Transcript: ENSMUST00000026470
SMART Domains Protein: ENSMUSP00000026470
Gene: ENSMUSG00000025403

DomainStartEndE-ValueType
Pfam:SHMT 49 448 5.4e-211 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000095266
AA Change: C253S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000092900
Gene: ENSMUSG00000040258
AA Change: C253S

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Neurexophilin 70 166 3e-32 PFAM
Pfam:Neurexophilin 217 304 1e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217682
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218258
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218313
Predicted Effect probably benign
Transcript: ENSMUST00000219239
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit nitrituria. Female homozygotes display decreased circulating triglyceride levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A T 13: 81,607,834 (GRCm39) D4079E probably benign Het
Bcar1 T C 8: 112,440,962 (GRCm39) D344G probably damaging Het
Car9 A G 4: 43,510,213 (GRCm39) N265S probably damaging Het
Ccr7 A G 11: 99,036,560 (GRCm39) S121P possibly damaging Het
Cgnl1 A G 9: 71,536,603 (GRCm39) L1278P probably damaging Het
Chst9 A T 18: 15,585,872 (GRCm39) S230R probably damaging Het
Cped1 G A 6: 22,143,951 (GRCm39) V566M probably benign Het
Csf2 A T 11: 54,138,489 (GRCm39) Y117* probably null Het
Cwf19l1 C T 19: 44,121,524 (GRCm39) probably null Het
Cyp2d34 C T 15: 82,503,287 (GRCm39) G69D probably damaging Het
Dync2h1 A T 9: 7,114,949 (GRCm39) V170E probably damaging Het
Ehbp1l1 T A 19: 5,766,348 (GRCm39) T388S possibly damaging Het
Etfa T C 9: 55,362,023 (GRCm39) I329M probably benign Het
Flt4 AC ACC 11: 49,541,861 (GRCm39) probably null Het
Fmnl2 G A 2: 53,018,794 (GRCm39) V1078I probably damaging Het
Fnip2 A G 3: 79,388,250 (GRCm39) L797P possibly damaging Het
Gmeb2 A T 2: 180,897,750 (GRCm39) probably null Het
Greb1l A G 18: 10,537,169 (GRCm39) T1045A probably benign Het
Hapln1 A G 13: 89,753,530 (GRCm39) N232S probably benign Het
Hibadh A T 6: 52,523,965 (GRCm39) M311K probably benign Het
Hus1 C T 11: 8,960,240 (GRCm39) probably null Het
Il31ra T C 13: 112,660,669 (GRCm39) E640G probably benign Het
L3mbtl4 T C 17: 68,762,769 (GRCm39) F101L probably damaging Het
Lbr A T 1: 181,647,526 (GRCm39) M417K probably benign Het
Lrig3 T G 10: 125,844,609 (GRCm39) L691R probably damaging Het
Mcm3ap T A 10: 76,319,148 (GRCm39) F792Y probably benign Het
Mst1 T C 9: 107,961,408 (GRCm39) probably null Het
Nova2 C A 7: 18,692,371 (GRCm39) T500K probably damaging Het
Or2t1 T C 14: 14,328,878 (GRCm38) Y256H probably damaging Het
Or4s2b T A 2: 88,508,492 (GRCm39) S98T possibly damaging Het
Pcdhga3 G A 18: 37,808,747 (GRCm39) R400Q probably benign Het
Pidd1 C A 7: 141,018,507 (GRCm39) A915S probably damaging Het
Plat T G 8: 23,262,738 (GRCm39) W148G probably damaging Het
Polr3a T C 14: 24,505,009 (GRCm39) I1084V possibly damaging Het
Pramel27 G A 4: 143,578,225 (GRCm39) probably null Het
Ptdss1 A G 13: 67,081,663 (GRCm39) D31G possibly damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Samd8 A G 14: 21,825,236 (GRCm39) D64G probably damaging Het
Scgb1b20 A G 7: 33,072,656 (GRCm39) probably null Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Slc25a23 T C 17: 57,360,336 (GRCm39) I269V probably benign Het
Slc35f4 A T 14: 49,556,331 (GRCm39) S141T probably damaging Het
Srgap1 T C 10: 121,621,665 (GRCm39) M966V probably benign Het
Syne2 T A 12: 76,106,213 (GRCm39) V5526E probably damaging Het
Tcaf3 A G 6: 42,568,860 (GRCm39) S596P probably benign Het
Tg T A 15: 66,611,017 (GRCm39) I356N probably damaging Het
Ttc6 C T 12: 57,783,817 (GRCm39) R1759* probably null Het
Wdsub1 T C 2: 59,700,822 (GRCm39) N138D probably benign Het
Zfp1001 A G 2: 150,204,886 (GRCm39) I67V probably benign Het
Other mutations in Nxph4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0325:Nxph4 UTSW 10 127,362,780 (GRCm39) missense probably damaging 1.00
R0400:Nxph4 UTSW 10 127,362,127 (GRCm39) missense possibly damaging 0.77
R0714:Nxph4 UTSW 10 127,362,808 (GRCm39) missense probably damaging 0.99
R1676:Nxph4 UTSW 10 127,362,077 (GRCm39) missense probably damaging 1.00
R1736:Nxph4 UTSW 10 127,362,465 (GRCm39) missense probably damaging 1.00
R4086:Nxph4 UTSW 10 127,362,555 (GRCm39) missense probably damaging 1.00
R6332:Nxph4 UTSW 10 127,362,237 (GRCm39) missense probably damaging 0.99
R9290:Nxph4 UTSW 10 127,362,546 (GRCm39) missense probably damaging 1.00
R9375:Nxph4 UTSW 10 127,362,631 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ACCTAGTGAGACTGCGATCTGG -3'
(R):5'- ACTTGAAGGGGTGCTTCCTG -3'

Sequencing Primer
(F):5'- ACTGCGATCTGGTGGGAAGC -3'
(R):5'- TTCCTGGATTGGGGCCC -3'
Posted On 2016-09-06