Incidental Mutation 'IGL02074:Nexmif'
ID185944
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 #IGL02074
Quality Score
Status
ChromosomeX
Chromosomal Location104077434-104201185 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 104087891 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 140 (M140K)
Ref Sequence ENSEMBL: ENSMUSP00000113625 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056502] [ENSMUST00000087879] [ENSMUST00000118314]
Predicted Effect probably damaging
Transcript: ENSMUST00000056502
AA Change: M140K

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000049716
Gene: ENSMUSG00000046449
AA Change: M140K

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 damaging
Transcript: ENSMUST00000087879
AA Change: M140K

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000085187
Gene: ENSMUSG00000046449
AA Change: M140K

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 damaging
Transcript: ENSMUST00000118314
AA Change: M140K

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113625
Gene: ENSMUSG00000046449
AA Change: M140K

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T C 11: 110,293,350 S974G probably benign Het
Abi2 T C 1: 60,447,307 V209A probably damaging Het
Ankrd33b C A 15: 31,297,661 V317F probably damaging Het
Arcn1 A G 9: 44,759,012 C106R probably benign Het
Arhgap35 T C 7: 16,563,055 H695R probably benign Het
Bag4 G T 8: 25,769,355 T272K possibly damaging Het
Cnot6 T C 11: 49,689,243 H74R probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dab1 C A 4: 104,727,854 A397D possibly damaging Het
Dhrs7b C A 11: 60,851,754 Q91K probably benign Het
Dixdc1 C T 9: 50,702,017 V212M probably benign Het
Eea1 A G 10: 96,037,487 E1137G probably damaging Het
Ercc8 T C 13: 108,158,784 probably benign Het
Fam163b C T 2: 27,113,558 C28Y probably damaging Het
Fgd6 A T 10: 94,127,435 I1132F probably damaging Het
Grin1 C T 2: 25,298,502 V432I possibly damaging Het
Herc1 A G 9: 66,450,983 S2449G probably benign Het
Herc2 T A 7: 56,087,444 probably benign Het
L1cam A G X: 73,863,013 W275R probably damaging Het
Lrrc6 T C 15: 66,489,490 N54S probably damaging Het
Magi1 A G 6: 93,745,598 V660A probably damaging Het
Mctp2 A T 7: 72,161,258 I656K probably damaging Het
Mtcl1 T C 17: 66,366,468 D633G possibly damaging Het
Olfr543 G T 7: 102,477,472 H133N probably benign Het
Olfr853 A T 9: 19,537,852 I26N possibly damaging Het
Olfr930 A T 9: 38,930,683 T171S probably benign Het
R3hdm1 A G 1: 128,169,038 T146A possibly damaging Het
Rnf123 A T 9: 108,066,889 L508Q probably damaging Het
Scaf4 G T 16: 90,242,920 P812T unknown Het
Slc45a2 A G 15: 11,000,817 M1V probably null Het
Ttr T C 18: 20,666,523 V46A probably benign Het
Ubxn8 T C 8: 33,623,178 K216R possibly damaging Het
Vmn2r109 T C 17: 20,554,341 I251V probably benign Het
Xlr A T X: 53,796,134 probably benign Het
Zfp142 T G 1: 74,569,863 H1488P 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
IGL02070:Nexmif APN X 104083211 missense probably benign 0.25
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