Incidental Mutation 'R2274:Nexmif'
ID245011
Institutional Source Beutler Lab
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 #R2274 (G1)
Quality Score222
Status Not validated
ChromosomeX
Chromosomal Location104077434-104201185 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 104087846 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Alanine at position 155 (E155A)
Ref Sequence ENSEMBL: ENSMUSP00000113625 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056502] [ENSMUST00000087879] [ENSMUST00000118314]
Predicted Effect possibly damaging
Transcript: ENSMUST00000056502
AA Change: E155A

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000049716
Gene: ENSMUSG00000046449
AA Change: E155A

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 possibly damaging
Transcript: ENSMUST00000087879
AA Change: E155A

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000085187
Gene: ENSMUSG00000046449
AA Change: E155A

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 possibly damaging
Transcript: ENSMUST00000118314
AA Change: E155A

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000113625
Gene: ENSMUSG00000046449
AA Change: E155A

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
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300003K06Rik A T 11: 99,837,841 C59S possibly damaging Het
Abca5 A T 11: 110,275,281 N1556K possibly damaging Het
Abcb10 G T 8: 123,982,752 A21E probably benign Het
Ackr1 T C 1: 173,332,485 N156D probably benign Het
Adamtsl3 A T 7: 82,606,558 S1593C probably benign Het
Ank3 T A 10: 69,950,942 probably null Het
Aqp4 A G 18: 15,393,480 S315P probably benign Het
Atp7b T C 8: 22,020,832 I433V probably benign Het
Bco1 G A 8: 117,108,783 probably null Het
Cacna1g T A 11: 94,415,936 E1842V probably damaging Het
Calhm3 T A 19: 47,157,547 Q73L probably damaging Het
Car5a C T 8: 121,944,669 probably null Het
Cdk11b T A 4: 155,647,594 probably benign Het
Cdr2 A T 7: 120,958,509 H264Q possibly damaging Het
Col9a2 C G 4: 121,054,258 R599G probably damaging Het
D7Ertd443e A G 7: 134,270,201 S644P probably damaging Het
Dnlz A T 2: 26,351,471 C82S probably damaging Het
Egr4 A T 6: 85,512,743 F112I probably damaging Het
Emilin1 C T 5: 30,917,738 P441L possibly damaging Het
F11 T C 8: 45,252,147 D119G possibly damaging Het
Fat4 T A 3: 38,995,899 V3970D possibly damaging Het
Fbxw5 C A 2: 25,504,761 C222* probably null Het
Fn1 C T 1: 71,613,943 G1296R probably null Het
Ghr A G 15: 3,320,025 V557A probably benign Het
Gm11568 A G 11: 99,858,244 S92G unknown Het
Gpatch1 A T 7: 35,288,678 S678T probably benign Het
Gpr155 A G 2: 73,348,135 probably null Het
Gucy2f A T X: 142,116,273 M697K probably benign Het
Hecw1 T C 13: 14,346,068 T195A probably benign Het
Hoxd1 A G 2: 74,764,157 K252R probably damaging Het
Iqck G A 7: 118,899,657 D173N possibly damaging Het
Irf8 A G 8: 120,753,527 E168G probably damaging Het
Kcnh1 T G 1: 192,337,521 V358G probably damaging Het
Kifap3 T A 1: 163,868,758 V652D possibly damaging Het
L3hypdh T C 12: 72,084,858 Y100C possibly damaging Het
Map4k1 T A 7: 29,001,957 H729Q probably damaging Het
March1 T A 8: 66,387,499 N311K probably benign Het
Mier2 T C 10: 79,544,534 I321V probably damaging Het
Mta1 C T 12: 113,128,150 S291L probably damaging Het
Myh2 A G 11: 67,190,358 K1267E possibly damaging Het
Nbea A T 3: 55,988,085 probably null Het
Nkpd1 A G 7: 19,523,897 I534V probably benign Het
Nxph1 G T 6: 9,247,746 C239F probably damaging Het
Odc1 A G 12: 17,548,424 I189V probably benign Het
Olfr1170 A G 2: 88,224,823 F70L probably benign Het
Olfr314 T C 11: 58,786,666 V144A probably benign Het
Olfr351 A T 2: 36,860,101 N82K probably damaging Het
Olfr781 T C 10: 129,333,457 I192T probably benign Het
Pcdhb15 T C 18: 37,475,443 L576P probably damaging Het
Raph1 T C 1: 60,498,500 D499G probably damaging Het
Rptor T A 11: 119,756,322 C246* probably null Het
Rtl1 T C 12: 109,594,667 E246G unknown Het
Setx GTGGCT GT 2: 29,154,061 probably null Het
Slc12a3 T A 8: 94,333,287 I187N possibly damaging Het
Slc46a1 T G 11: 78,466,423 S101A probably benign Het
Slc4a8 A G 15: 100,807,402 M830V probably benign Het
Sned1 T A 1: 93,281,642 probably null Het
St3gal6 T A 16: 58,488,969 E34D possibly damaging Het
Tcstv3 C T 13: 120,317,654 Q30* probably null Het
Tex16 T A X: 112,121,141 D1112E probably damaging Het
Tmcc3 G A 10: 94,578,915 V160I probably damaging Het
Tmf1 T A 6: 97,163,586 L776F probably damaging Het
Tsr1 A T 11: 74,904,827 probably null Het
Tyrp1 A T 4: 80,837,534 E180V probably damaging Het
Ubr3 T C 2: 70,016,341 V1636A probably benign Het
Usp1 T C 4: 98,929,842 L139P probably damaging Het
Vmn1r232 A G 17: 20,914,203 L45P probably benign Het
Vmn1r49 G A 6: 90,072,144 T292I probably benign Het
Wdr19 T A 5: 65,240,991 M853K possibly damaging Het
Zkscan8 C T 13: 21,521,796 M265I probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- CTGCCCTTGACTTATGCAGG -3'
(R):5'- TTGGCCCTGATTGAAGCACC -3'

Sequencing Primer
(F):5'- CCCTTGACTTATGCAGGGGGAAG -3'
(R):5'- GATTGAAGCACCCGATCATTCTG -3'
Posted On2014-10-30