Incidental Mutation 'R6645:Ndfip2'
ID 526091
Institutional Source Beutler Lab
Gene Symbol Ndfip2
Ensembl Gene ENSMUSG00000053253
Gene Name Nedd4 family interacting protein 2
Synonyms 9130207N19Rik, 0710001O20Rik, N4wbp5a
MMRRC Submission 044766-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6645 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 105496008-105546732 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 105529707 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 179 (Y179N)
Ref Sequence ENSEMBL: ENSMUSP00000137875 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000181969]
AlphaFold no structure available at present
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127286
Predicted Effect unknown
Transcript: ENSMUST00000138283
AA Change: Y152N
SMART Domains Protein: ENSMUSP00000121854
Gene: ENSMUSG00000053253
AA Change: Y152N

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: ENSMUST00000145241
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149358
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149781
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155351
Predicted Effect probably damaging
Transcript: ENSMUST00000181969
AA Change: Y179N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137875
Gene: ENSMUSG00000053253
AA Change: Y179N

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: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 93.9%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anp32e T A 3: 95,844,414 (GRCm39) F95I probably damaging Het
Arap1 A G 7: 101,057,318 (GRCm39) K628R possibly damaging Het
Arid4b A T 13: 14,294,737 (GRCm39) E6D probably damaging Het
Atxn10 G T 15: 85,260,904 (GRCm39) probably null Het
Ccdc170 A G 10: 4,510,974 (GRCm39) I678V possibly damaging Het
Ccdc18 T A 5: 108,286,796 (GRCm39) V110D probably benign Het
Cep85l C T 10: 53,177,768 (GRCm39) E322K probably benign Het
Cilp A T 9: 65,186,587 (GRCm39) Y894F possibly damaging Het
Ddx4 A G 13: 112,777,708 (GRCm39) S62P possibly damaging Het
Dph7 T C 2: 24,855,663 (GRCm39) V154A probably benign Het
Ephb6 T C 6: 41,594,206 (GRCm39) S579P probably benign Het
Fam53a G T 5: 33,758,128 (GRCm39) Q332K probably benign Het
Fancm A G 12: 65,152,874 (GRCm39) D1110G probably damaging Het
Fh1 A T 1: 175,442,442 (GRCm39) V136E possibly damaging Het
Greb1 G T 12: 16,748,580 (GRCm39) H1132Q probably benign Het
Jph1 A G 1: 17,161,985 (GRCm39) S226P probably damaging Het
Kbtbd8 C T 6: 95,103,730 (GRCm39) R460* probably null Het
Lama5 T A 2: 179,821,463 (GRCm39) N3059Y probably damaging Het
Lipc G A 9: 70,711,030 (GRCm39) T289I probably damaging Het
Lrrc2 T C 9: 110,799,175 (GRCm39) W241R probably damaging Het
Mfn2 T A 4: 147,979,069 (GRCm39) I88F probably damaging Het
Mms19 G C 19: 41,943,630 (GRCm39) N366K probably benign Het
Myo15a A G 11: 60,368,118 (GRCm39) T293A probably benign Het
Notch4 A G 17: 34,806,790 (GRCm39) D1909G probably benign Het
Obscn C T 11: 58,976,088 (GRCm39) S2013N probably damaging Het
Oca2 G T 7: 55,964,522 (GRCm39) A357S probably benign Het
Or8b43 T C 9: 38,360,219 (GRCm39) L17S probably damaging Het
Or8g35 T A 9: 39,381,562 (GRCm39) L153F probably benign Het
Pde7b C A 10: 20,486,312 (GRCm39) probably null Het
Ppef2 T C 5: 92,378,320 (GRCm39) N625S probably benign Het
Prom1 A T 5: 44,204,856 (GRCm39) L192Q probably damaging Het
Satb2 T C 1: 56,836,166 (GRCm39) I542V possibly damaging Het
Sgpp2 C T 1: 78,336,799 (GRCm39) T59M probably damaging Het
Skint6 T C 4: 112,749,235 (GRCm39) T782A possibly damaging Het
Slc13a4 G T 6: 35,245,774 (GRCm39) Q624K probably benign Het
Slc9a3 T A 13: 74,312,291 (GRCm39) H629Q probably damaging Het
Slitrk3 G T 3: 72,957,194 (GRCm39) A526E probably benign Het
Spata31e2 T A 1: 26,722,198 (GRCm39) D994V probably benign Het
Sptssa T C 12: 54,693,275 (GRCm39) Y53C probably damaging Het
Srsf10 T C 4: 135,590,874 (GRCm39) S159P possibly damaging Het
Tbce T C 13: 14,179,814 (GRCm39) T341A probably benign Het
Tdrd6 A G 17: 43,935,423 (GRCm39) L1875P probably benign Het
Tkt G A 14: 30,292,168 (GRCm39) G425R probably damaging Het
Tmprss7 T C 16: 45,511,326 (GRCm39) I17M possibly damaging Het
Ttc21b T C 2: 66,066,721 (GRCm39) S311G probably benign Het
Ubr5 A G 15: 38,029,750 (GRCm39) Y492H probably damaging Het
Ush2a T C 1: 188,255,528 (GRCm39) I1535T probably damaging Het
Vmn2r17 A T 5: 109,576,247 (GRCm39) N373Y probably damaging Het
Vmn2r6 A T 3: 64,464,297 (GRCm39) V179E probably damaging Het
Vps13b A G 15: 35,910,451 (GRCm39) E3405G probably benign Het
Wac A T 18: 7,973,523 (GRCm39) Q212H probably damaging Het
Washc4 C T 10: 83,408,059 (GRCm39) R555* probably null Het
Zmat4 G A 8: 24,287,417 (GRCm39) probably null Het
Other mutations in Ndfip2
AlleleSourceChrCoordTypePredicted EffectPPH Score
Bridge_too_far UTSW 14 105,532,291 (GRCm39) missense probably damaging 1.00
PIT4486001:Ndfip2 UTSW 14 105,532,300 (GRCm39) missense probably damaging 1.00
R0189:Ndfip2 UTSW 14 105,542,174 (GRCm39) missense probably damaging 1.00
R2156:Ndfip2 UTSW 14 105,525,204 (GRCm39) missense probably benign 0.07
R4912:Ndfip2 UTSW 14 105,496,120 (GRCm39) missense probably benign 0.00
R5102:Ndfip2 UTSW 14 105,535,539 (GRCm39) missense possibly damaging 0.65
R5759:Ndfip2 UTSW 14 105,539,750 (GRCm39) splice site probably null
R5893:Ndfip2 UTSW 14 105,532,291 (GRCm39) missense probably damaging 1.00
R6152:Ndfip2 UTSW 14 105,535,538 (GRCm39) missense possibly damaging 0.79
R7071:Ndfip2 UTSW 14 105,539,760 (GRCm39) missense possibly damaging 0.81
R7196:Ndfip2 UTSW 14 105,535,472 (GRCm39) missense probably damaging 1.00
R7699:Ndfip2 UTSW 14 105,525,193 (GRCm39) missense possibly damaging 0.63
R7700:Ndfip2 UTSW 14 105,525,193 (GRCm39) missense possibly damaging 0.63
R7836:Ndfip2 UTSW 14 105,529,675 (GRCm39) missense probably benign 0.01
R7846:Ndfip2 UTSW 14 105,535,448 (GRCm39) missense probably damaging 1.00
R9067:Ndfip2 UTSW 14 105,525,157 (GRCm39) missense probably benign 0.10
R9497:Ndfip2 UTSW 14 105,542,245 (GRCm39) missense probably benign 0.11
R9799:Ndfip2 UTSW 14 105,496,400 (GRCm39) missense possibly damaging 0.93
Z1176:Ndfip2 UTSW 14 105,496,144 (GRCm39) missense probably benign 0.00
Z1177:Ndfip2 UTSW 14 105,496,147 (GRCm39) missense possibly damaging 0.79
Predicted Primers PCR Primer
(F):5'- AGTTTATACTATAGACCTGCAGGAGC -3'
(R):5'- CTCACTGAGAGGGAACAGATC -3'

Sequencing Primer
(F):5'- CAGGAGCATTTGTAATCTTTAGTGTC -3'
(R):5'- ACTCTCTGAGGTGCATCT -3'
Posted On 2018-06-22