Incidental Mutation 'IGL02074:Nexmif'
ID 185944
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nexmif
Ensembl Gene ENSMUSG00000046449
Gene Name neurite extension and migration factor
Synonyms Xpn, C77370
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02074
Quality Score
Status
Chromosome X
Chromosomal Location 103121040-103244791 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 103131497 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q5DTT1
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: 110,184,176 (GRCm39) S974G probably benign Het
Abi2 T C 1: 60,486,466 (GRCm39) V209A probably damaging Het
Ankrd33b C A 15: 31,297,807 (GRCm39) V317F probably damaging Het
Arcn1 A G 9: 44,670,309 (GRCm39) C106R probably benign Het
Arhgap35 T C 7: 16,296,980 (GRCm39) H695R probably benign Het
Bag4 G T 8: 26,259,383 (GRCm39) T272K possibly damaging Het
Cnot6 T C 11: 49,580,070 (GRCm39) H74R probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dab1 C A 4: 104,585,051 (GRCm39) A397D possibly damaging Het
Dhrs7b C A 11: 60,742,580 (GRCm39) Q91K probably benign Het
Dixdc1 C T 9: 50,613,317 (GRCm39) V212M probably benign Het
Dnaaf11 T C 15: 66,361,339 (GRCm39) N54S probably damaging Het
Eea1 A G 10: 95,873,349 (GRCm39) E1137G probably damaging Het
Ercc8 T C 13: 108,295,318 (GRCm39) probably benign Het
Fam163b C T 2: 27,003,570 (GRCm39) C28Y probably damaging Het
Fgd6 A T 10: 93,963,297 (GRCm39) I1132F probably damaging Het
Grin1 C T 2: 25,188,514 (GRCm39) V432I possibly damaging Het
Herc1 A G 9: 66,358,265 (GRCm39) S2449G probably benign Het
Herc2 T A 7: 55,737,192 (GRCm39) probably benign Het
L1cam A G X: 72,906,619 (GRCm39) W275R probably damaging Het
Magi1 A G 6: 93,722,579 (GRCm39) V660A probably damaging Het
Mctp2 A T 7: 71,811,006 (GRCm39) I656K probably damaging Het
Mtcl1 T C 17: 66,673,463 (GRCm39) D633G possibly damaging Het
Or55b3 G T 7: 102,126,679 (GRCm39) H133N probably benign Het
Or7g33 A T 9: 19,449,148 (GRCm39) I26N possibly damaging Het
Or8d23 A T 9: 38,841,979 (GRCm39) T171S probably benign Het
R3hdm1 A G 1: 128,096,775 (GRCm39) T146A possibly damaging Het
Rnf123 A T 9: 107,944,088 (GRCm39) L508Q probably damaging Het
Scaf4 G T 16: 90,039,808 (GRCm39) P812T unknown Het
Slc45a2 A G 15: 11,000,903 (GRCm39) M1V probably null Het
Ttr T C 18: 20,799,580 (GRCm39) V46A probably benign Het
Ubxn8 T C 8: 34,113,206 (GRCm39) K216R possibly damaging Het
Vmn2r109 T C 17: 20,774,603 (GRCm39) I251V probably benign Het
Xlr A T X: 52,798,101 (GRCm39) probably benign Het
Zfp142 T G 1: 74,609,022 (GRCm39) H1488P probably damaging Het
Other mutations in Nexmif
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01144:Nexmif APN X 103,127,559 (GRCm39) missense possibly damaging 0.73
IGL01399:Nexmif APN X 103,130,786 (GRCm39) missense probably damaging 0.98
IGL02070:Nexmif APN X 103,126,817 (GRCm39) missense probably benign 0.25
IGL02165:Nexmif APN X 103,128,360 (GRCm39) missense probably benign 0.13
R0739:Nexmif UTSW X 103,128,555 (GRCm39) missense probably benign 0.35
R1955:Nexmif UTSW X 103,127,559 (GRCm39) missense possibly damaging 0.73
R2274:Nexmif UTSW X 103,131,452 (GRCm39) missense possibly damaging 0.62
R2504:Nexmif UTSW X 103,127,999 (GRCm39) missense probably damaging 0.98
R3689:Nexmif UTSW X 103,131,213 (GRCm39) missense probably damaging 1.00
R3690:Nexmif UTSW X 103,131,213 (GRCm39) missense probably damaging 1.00
R5022:Nexmif UTSW X 103,130,956 (GRCm39) missense probably damaging 1.00
R5057:Nexmif UTSW X 103,130,956 (GRCm39) missense probably damaging 1.00
R9619:Nexmif UTSW X 103,129,841 (GRCm39) missense possibly damaging 0.54
X0020:Nexmif UTSW X 103,128,555 (GRCm39) missense probably benign 0.35
Posted On 2014-05-07