Incidental Mutation 'IGL01399:Nexmif'
ID 79552
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 # IGL01399
Quality Score
Status
Chromosome X
Chromosomal Location 103121040-103244791 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 103130786 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 377 (D377V)
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: D377V

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000049716
Gene: ENSMUSG00000046449
AA Change: D377V

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: D377V

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000085187
Gene: ENSMUSG00000046449
AA Change: D377V

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: D377V

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113625
Gene: ENSMUSG00000046449
AA Change: D377V

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
Apol11b G A 15: 77,522,219 (GRCm39) T26M probably damaging Het
Asic4 T A 1: 75,445,790 (GRCm39) N206K possibly damaging Het
Bsn A G 9: 107,984,386 (GRCm39) Y3223H unknown Het
Btaf1 C T 19: 36,977,570 (GRCm39) R1463* probably null Het
Ccdc146 A G 5: 21,499,611 (GRCm39) I857T possibly damaging Het
Ccnf G A 17: 24,443,986 (GRCm39) S594L probably damaging Het
Chd5 T C 4: 152,441,144 (GRCm39) W195R probably damaging Het
Cntn1 A G 15: 92,203,025 (GRCm39) Y769C probably damaging Het
Cwc22 T C 2: 77,747,408 (GRCm39) E435G probably benign Het
Dct A G 14: 118,273,890 (GRCm39) F339S probably damaging Het
Ddx54 G T 5: 120,761,968 (GRCm39) E554* probably null Het
Dock3 G T 9: 106,870,670 (GRCm39) S581R probably benign Het
Dst A G 1: 34,156,598 (GRCm39) H176R probably benign Het
Emc8 A G 8: 121,385,745 (GRCm39) M123T probably damaging Het
Evc T A 5: 37,490,357 (GRCm39) D55V probably damaging Het
Gm5424 A G 10: 61,907,272 (GRCm39) noncoding transcript Het
Gpr149 A T 3: 62,511,852 (GRCm39) L49Q probably damaging Het
Hcfc1 C T X: 72,993,515 (GRCm39) V1217I possibly damaging Het
Hoxa4 G T 6: 52,167,393 (GRCm39) Q263K probably damaging Het
Ift172 T C 5: 31,423,592 (GRCm39) E790G probably benign Het
Ipp A G 4: 116,372,384 (GRCm39) N138D probably damaging Het
Isg20 A T 7: 78,569,836 (GRCm39) T158S possibly damaging Het
Klf17 A G 4: 117,616,356 (GRCm39) F325S probably damaging Het
Lilrb4a T C 10: 51,370,161 (GRCm39) L233P probably benign Het
Malrd1 G A 2: 16,106,768 (GRCm39) probably null Het
Myh9 A T 15: 77,651,470 (GRCm39) L1544Q probably damaging Het
Nobox T C 6: 43,280,972 (GRCm39) T501A probably benign Het
Noc3l T C 19: 38,804,099 (GRCm39) D93G possibly damaging Het
Nrcam G T 12: 44,622,667 (GRCm39) A938S probably benign Het
Nup205 T C 6: 35,196,624 (GRCm39) I1120T possibly damaging Het
Or5b96 A T 19: 12,867,803 (GRCm39) M46K probably benign Het
Or5h18 C T 16: 58,847,629 (GRCm39) V214I probably benign Het
Ptpn3 T C 4: 57,225,775 (GRCm39) D480G probably benign Het
Selenof C T 3: 144,302,669 (GRCm39) T148I probably damaging Het
Sgce C A 6: 4,746,997 (GRCm39) G31V probably damaging Het
Slc35e1 C A 8: 73,238,534 (GRCm39) A325S probably damaging Het
Slc4a4 A G 5: 89,376,794 (GRCm39) D1016G probably damaging Het
Synj2 T G 17: 6,060,046 (GRCm39) C149W probably damaging Het
Tecpr1 A G 5: 144,145,411 (GRCm39) probably null Het
Utp20 A G 10: 88,594,164 (GRCm39) probably null Het
Vmn2r63 T A 7: 42,553,543 (GRCm39) K571M probably damaging Het
Wdr53 A G 16: 32,070,718 (GRCm39) D21G possibly damaging Het
Zbtb3 T C 19: 8,780,819 (GRCm39) L144S probably damaging Het
Zfp185 T A X: 72,043,654 (GRCm39) S154T probably damaging Het
Other mutations in Nexmif
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01144:Nexmif APN X 103,127,559 (GRCm39) missense possibly damaging 0.73
IGL02070:Nexmif APN X 103,126,817 (GRCm39) missense probably benign 0.25
IGL02074:Nexmif APN X 103,131,497 (GRCm39) missense probably damaging 0.98
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 2013-11-05