Incidental Mutation 'R5102:Ndfip2'
ID392443
Institutional Source Beutler Lab
Gene Symbol Ndfip2
Ensembl Gene ENSMUSG00000053253
Gene NameNedd4 family interacting protein 2
Synonyms0710001O20Rik, 9130207N19Rik, N4wbp5a
MMRRC Submission 042690-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R5102 (G1)
Quality Score225
Status Not validated
Chromosome14
Chromosomal Location105258573-105309298 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 105298105 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 275 (I275T)
Ref Sequence ENSEMBL: ENSMUSP00000137875 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000181969]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127286
Predicted Effect unknown
Transcript: ENSMUST00000138283
AA Change: I248T
SMART Domains Protein: ENSMUSP00000121854
Gene: ENSMUSG00000053253
AA Change: I248T

DomainStartEndE-ValueType
low complexity region 8 23 N/A INTRINSIC
low complexity region 29 58 N/A INTRINSIC
low complexity region 103 129 N/A INTRINSIC
Pfam:DUF2370 150 266 1.4e-10 PFAM
transmembrane domain 269 291 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149358
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149781
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155351
Predicted Effect possibly damaging
Transcript: ENSMUST00000181969
AA Change: I275T

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000137875
Gene: ENSMUSG00000053253
AA Change: I275T

DomainStartEndE-ValueType
low complexity region 34 49 N/A INTRINSIC
low complexity region 55 84 N/A INTRINSIC
low complexity region 129 155 N/A INTRINSIC
Pfam:DUF2370 171 290 2.1e-37 PFAM
Pfam:DUF2370 285 333 2.9e-12 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.3%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele are viable and exhibit normal hematological parameters. However, when fed a low iron diet, female homozygotes display a decrease in liver iron content and are able to maintain normal serum iron levels and transferrin saturation, unlike wild-type females. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810006K23Rik A G 5: 124,338,891 N83D probably damaging Het
Aox4 C T 1: 58,240,778 R518C probably damaging Het
Apbb2 A T 5: 66,312,249 probably null Het
Arhgap45 C T 10: 80,021,428 P254S probably benign Het
Arl4c T C 1: 88,701,600 D22G probably damaging Het
Asxl1 A G 2: 153,400,955 T1142A probably benign Het
BC035044 T C 6: 128,884,986 probably benign Het
Bmp4 T C 14: 46,384,001 N362S probably damaging Het
Cbll1 G T 12: 31,487,913 T280N probably damaging Het
Cdh10 A T 15: 18,986,885 T401S probably benign Het
Cps1 A T 1: 67,206,793 M1148L probably benign Het
Crybg1 T C 10: 43,997,836 D1092G probably damaging Het
Cyth2 A G 7: 45,810,702 S173P probably damaging Het
D3Ertd254e G A 3: 36,162,665 C55Y possibly damaging Het
D6Ertd527e A T 6: 87,111,811 I319F unknown Het
Dchs1 A T 7: 105,772,177 H345Q probably benign Het
Ddx50 A T 10: 62,640,861 V211E probably damaging Het
Dlx6 AGG AG 6: 6,865,180 probably null Het
Dnajb5 G A 4: 42,956,639 D109N possibly damaging Het
Dner A T 1: 84,405,970 N564K probably damaging Het
Fam234b T C 6: 135,209,284 S97P probably benign Het
Fam53b G A 7: 132,715,955 R60* probably null Het
Fmo3 T G 1: 162,963,977 K244Q probably benign Het
Gm12800 T C 4: 101,909,239 F40S probably damaging Het
Golim4 A G 3: 75,903,272 I192T possibly damaging Het
Gpr1 A G 1: 63,183,167 V303A probably damaging Het
Gprin1 T C 13: 54,739,763 M233V probably benign Het
Gtf2f1 A T 17: 57,003,626 V443D probably damaging Het
H2afy C G 13: 56,096,123 probably null Het
Hmgcs2 T C 3: 98,280,470 probably benign Het
Ide T A 19: 37,314,984 I271L unknown Het
Kat8 G A 7: 127,924,816 E343K probably damaging Het
Kif14 A G 1: 136,516,403 I1378V probably benign Het
Lhx3 TCCTACGGGCCGGCCC TCC 2: 26,201,423 probably null Het
Lhx6 T C 2: 36,094,210 probably null Het
Lrp2 C T 2: 69,489,158 G2007D probably damaging Het
Lrp5 T C 19: 3,659,304 K142R probably damaging Het
Mrpl2 G A 17: 46,650,038 R286Q probably benign Het
Nacad T A 11: 6,598,528 D1402V probably damaging Het
Neb A C 2: 52,226,570 V4131G possibly damaging Het
Nfe2l1 G A 11: 96,822,108 A83V probably damaging Het
Nos3 A G 5: 24,371,627 D418G probably damaging Het
Olfr1126 A T 2: 87,457,794 M210L probably benign Het
Olfr353 T A 2: 36,890,044 K268M possibly damaging Het
Plcd4 A G 1: 74,565,154 T764A probably damaging Het
Plppr3 G T 10: 79,865,386 P541T possibly damaging Het
Polr2a A G 11: 69,746,945 I191T possibly damaging Het
Rab11fip1 T C 8: 27,156,374 K225E probably damaging Het
Rara A T 11: 98,966,359 Q64L possibly damaging Het
Rtkn G A 6: 83,149,773 V305M probably damaging Het
Sh2b1 A C 7: 126,471,236 F399V probably benign Het
Slc7a4 T C 16: 17,575,618 T106A probably damaging Het
Srcap G A 7: 127,530,623 G539D probably damaging Het
Stab1 C T 14: 31,148,017 probably null Het
Other mutations in Ndfip2
AlleleSourceChrCoordTypePredicted EffectPPH Score
Bridge_too_far UTSW 14 105294857 missense probably damaging 1.00
PIT4486001:Ndfip2 UTSW 14 105294866 missense probably damaging 1.00
R0189:Ndfip2 UTSW 14 105304740 missense probably damaging 1.00
R2156:Ndfip2 UTSW 14 105287770 missense probably benign 0.07
R4912:Ndfip2 UTSW 14 105258685 missense probably benign 0.00
R5759:Ndfip2 UTSW 14 105302316 synonymous probably null
R5893:Ndfip2 UTSW 14 105294857 missense probably damaging 1.00
R6152:Ndfip2 UTSW 14 105298104 missense possibly damaging 0.79
R6645:Ndfip2 UTSW 14 105292273 missense probably damaging 1.00
R7071:Ndfip2 UTSW 14 105302326 missense possibly damaging 0.81
R7196:Ndfip2 UTSW 14 105298038 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCATTGCTGGTACCATGTTTC -3'
(R):5'- TCAGAAGCAATCCCTTTAGGC -3'

Sequencing Primer
(F):5'- GCTGGTACCATGTTTCTGTTTATTTG -3'
(R):5'- CCCTTTAGGCAGATTTTAATCAACG -3'
Posted On2016-06-15