Incidental Mutation 'IGL02070:Nexmif'
ID185780
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nexmif
Ensembl Gene ENSMUSG00000046449
Gene Nameneurite extension and migration factor
SynonymsC77370, Xpn
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02070
Quality Score
Status
ChromosomeX
Chromosomal Location104077434-104201185 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 104083211 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 1509 (H1509Q)
Ref Sequence ENSEMBL: ENSMUSP00000085187 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056502] [ENSMUST00000087879] [ENSMUST00000118314]
Predicted Effect probably benign
Transcript: ENSMUST00000056502
SMART Domains Protein: ENSMUSP00000049716
Gene: ENSMUSG00000046449

DomainStartEndE-ValueType
low complexity region 470 475 N/A INTRINSIC
low complexity region 590 596 N/A INTRINSIC
low complexity region 854 874 N/A INTRINSIC
low complexity region 997 1012 N/A INTRINSIC
low complexity region 1179 1201 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000087879
AA Change: H1509Q

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000085187
Gene: ENSMUSG00000046449
AA Change: H1509Q

DomainStartEndE-ValueType
Pfam:DUF4683 284 690 3.5e-119 PFAM
low complexity region 854 874 N/A INTRINSIC
low complexity region 997 1012 N/A INTRINSIC
low complexity region 1179 1201 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118314
SMART Domains Protein: ENSMUSP00000113625
Gene: ENSMUSG00000046449

DomainStartEndE-ValueType
low complexity region 470 475 N/A INTRINSIC
low complexity region 590 596 N/A INTRINSIC
low complexity region 854 874 N/A INTRINSIC
low complexity region 997 1012 N/A INTRINSIC
low complexity region 1179 1201 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] An inversion on the X chromosome which disrupts this gene and a G-protein coupled purinergic receptor gene located in the pseudoautosomal region of the X chromosome has been linked to X linked mental retardation.[provided by RefSeq, Mar 2009]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921501E09Rik T C 17: 33,066,130 E566G probably damaging Het
Adgrg6 A G 10: 14,467,592 Y204H probably damaging Het
Akap13 C A 7: 75,666,545 T583K probably benign Het
Alms1 C A 6: 85,651,403 Q2948K possibly damaging Het
Auts2 C T 5: 131,470,421 R327Q probably damaging Het
Card14 A C 11: 119,344,704 E988A probably damaging Het
Ccl25 T C 8: 4,348,700 probably benign Het
Cttnbp2nl A C 3: 105,011,266 V86G probably damaging Het
Cyb5r2 G A 7: 107,751,187 T213I probably damaging Het
Ear6 A G 14: 51,854,446 H150R probably damaging Het
Ecm2 T C 13: 49,518,370 C116R probably damaging Het
Gabrr2 G T 4: 33,095,340 E385* probably null Het
Hyal5 T A 6: 24,876,962 V278D probably damaging Het
Mboat1 T C 13: 30,224,397 L181P probably benign Het
Mdm1 A G 10: 118,146,618 I53V probably damaging Het
Mfrp T C 9: 44,104,689 Y368H probably benign Het
Myo1b A G 1: 51,794,337 V365A probably damaging Het
Nlrp4a G T 7: 26,449,278 K103N possibly damaging Het
Obox6 G A 7: 15,834,879 S24L probably damaging Het
Olfr1184 T A 2: 88,487,002 I90N probably damaging Het
Olfr682-ps1 G T 7: 105,127,047 L85I probably benign Het
Optc T A 1: 133,901,176 I178F probably damaging Het
Pcdh15 T A 10: 74,630,868 N1535K probably benign Het
Pcdhb19 A T 18: 37,498,544 N464I probably damaging Het
Pcsk5 C T 19: 17,439,042 V1681I probably benign Het
Pknox1 T A 17: 31,603,365 probably benign Het
Ppa2 T C 3: 133,377,862 F327S probably damaging Het
Rab39b G T X: 75,574,703 L174M probably damaging Het
Reep5 A T 18: 34,372,473 Y48* probably null Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Sar1a T A 10: 61,684,894 probably benign Het
Satb1 T A 17: 51,740,067 D740V probably damaging Het
Sema3f G A 9: 107,692,241 T128I probably damaging Het
Snx1 A T 9: 66,098,449 S129R probably damaging Het
Sptb T A 12: 76,605,539 K1641N possibly damaging Het
Sptbn1 T C 11: 30,145,979 E305G probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Taar7d A T 10: 24,028,254 I345F probably benign Het
Tes T C 6: 17,099,780 L258P probably damaging Het
Trav9-4 A T 14: 53,676,360 T24S possibly damaging Het
Utp20 A G 10: 88,821,877 probably benign Het
Vcam1 T A 3: 116,125,997 T207S probably benign Het
Xkrx T C X: 134,150,562 S447G probably benign Het
Zfp318 T C 17: 46,396,718 L234P probably damaging Het
Other mutations in Nexmif
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01144:Nexmif APN X 104083953 missense possibly damaging 0.73
IGL01399:Nexmif APN X 104087180 missense probably damaging 0.98
IGL02074:Nexmif APN X 104087891 missense probably damaging 0.98
IGL02165:Nexmif APN X 104084754 missense probably benign 0.13
R0739:Nexmif UTSW X 104084949 missense probably benign 0.35
R1955:Nexmif UTSW X 104083953 missense possibly damaging 0.73
R2274:Nexmif UTSW X 104087846 missense possibly damaging 0.62
R2504:Nexmif UTSW X 104084393 missense probably damaging 0.98
R3689:Nexmif UTSW X 104087607 missense probably damaging 1.00
R3690:Nexmif UTSW X 104087607 missense probably damaging 1.00
R5022:Nexmif UTSW X 104087350 missense probably damaging 1.00
R5057:Nexmif UTSW X 104087350 missense probably damaging 1.00
X0020:Nexmif UTSW X 104084949 missense probably benign 0.35
Posted On2014-05-07