Incidental Mutation 'R5759:Ndfip2'
ID 445207
Institutional Source Beutler Lab
Gene Symbol Ndfip2
Ensembl Gene ENSMUSG00000053253
Gene Name Nedd4 family interacting protein 2
Synonyms 9130207N19Rik, 0710001O20Rik, N4wbp5a
MMRRC Submission 043361-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5759 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 105496008-105546732 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 105539750 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 probably null
Transcript: ENSMUST00000138283
SMART Domains Protein: ENSMUSP00000121854
Gene: ENSMUSG00000053253

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 probably null
Transcript: ENSMUST00000181969
SMART Domains Protein: ENSMUSP00000137875
Gene: ENSMUSG00000053253

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: 99.5%
  • 3x: 98.8%
  • 10x: 97.2%
  • 20x: 95.1%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T C 3: 137,774,419 (GRCm39) S1203P probably benign Het
Adamts1 A G 16: 85,594,936 (GRCm39) V341A possibly damaging Het
Arf2 G A 11: 103,874,459 (GRCm39) G144S probably benign Het
Atr A G 9: 95,756,455 (GRCm39) N862D probably benign Het
Cep295nl T C 11: 118,224,472 (GRCm39) H124R possibly damaging Het
Chd6 C T 2: 160,825,682 (GRCm39) V1141I possibly damaging Het
Chst5 C A 8: 112,616,842 (GRCm39) K259N probably benign Het
Dchs1 T A 7: 105,413,383 (GRCm39) D1144V probably damaging Het
Dmxl2 T C 9: 54,282,792 (GRCm39) Y2795C probably damaging Het
Dnah7b A G 1: 46,316,280 (GRCm39) N3131S probably damaging Het
Dnah7c G A 1: 46,654,527 (GRCm39) G1436R probably damaging Het
Emp2 T A 16: 10,102,374 (GRCm39) Y146F probably damaging Het
Exoc6 C T 19: 37,562,189 (GRCm39) Q148* probably null Het
Fam13b T C 18: 34,630,488 (GRCm39) D90G probably damaging Het
Fam186b T G 15: 99,177,598 (GRCm39) Y576S probably benign Het
Fras1 T C 5: 96,857,775 (GRCm39) V2023A probably benign Het
Grm5 A C 7: 87,675,808 (GRCm39) M441L probably damaging Het
Hhatl A G 9: 121,617,343 (GRCm39) Y297H probably damaging Het
Ifi30 A G 8: 71,219,188 (GRCm39) probably benign Het
Ing2 G T 8: 48,122,040 (GRCm39) N169K possibly damaging Het
Kat6a T G 8: 23,428,028 (GRCm39) S1128A probably benign Het
Madd T C 2: 90,992,420 (GRCm39) E1041G possibly damaging Het
Mcm3 CT CTT 1: 20,878,972 (GRCm39) probably null Het
Mfsd5 G A 15: 102,189,513 (GRCm39) G295D possibly damaging Het
Minar1 A T 9: 89,483,125 (GRCm39) N757K probably benign Het
Mmp20 T A 9: 7,628,378 (GRCm39) probably null Het
Mybphl T C 3: 108,282,070 (GRCm39) V100A probably benign Het
Or7e170 A G 9: 19,795,484 (GRCm39) V39A probably benign Het
Or7e175 T A 9: 20,049,228 (GRCm39) V272E probably benign Het
Or8b1c T A 9: 38,384,831 (GRCm39) S263T possibly damaging Het
Phf19 T G 2: 34,787,135 (GRCm39) D443A probably damaging Het
Piezo1 A G 8: 123,234,394 (GRCm39) V84A probably damaging Het
Septin9 A G 11: 117,243,094 (GRCm39) I94V probably benign Het
Slc35a1 C A 4: 34,675,032 (GRCm39) V132L probably benign Het
Sntg1 G A 1: 8,484,494 (GRCm39) S442L probably benign Het
Tcf25 A G 8: 124,108,196 (GRCm39) T84A probably benign Het
Tchhl1 C G 3: 93,378,863 (GRCm39) S522R probably damaging Het
Tmem106b A G 6: 13,075,041 (GRCm39) E76G probably damaging Het
Tnk2 C T 16: 32,499,482 (GRCm39) P932S probably benign Het
Trib1 G A 15: 59,526,350 (GRCm39) V307I probably benign Het
Trib3 A T 2: 152,185,215 (GRCm39) D11E probably benign Het
Trim34b T C 7: 103,980,640 (GRCm39) S243P possibly damaging Het
Vmn2r50 A G 7: 9,781,905 (GRCm39) I280T probably damaging Het
Zfp1010 A T 2: 176,956,765 (GRCm39) C244* probably null Het
Zfp445 G T 9: 122,682,211 (GRCm39) Q577K probably benign Het
Zfp599 T C 9: 22,160,957 (GRCm39) K403E probably damaging 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
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
R6645:Ndfip2 UTSW 14 105,529,707 (GRCm39) missense probably damaging 1.00
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'- CACAGAAGTTTGCAATCGCG -3'
(R):5'- TCTTTCCCTATGTTGGTAAGAAGC -3'

Sequencing Primer
(F):5'- GCAATCGCGTAAGAGTTTCTTC -3'
(R):5'- GCAAAGTGGGAGCCAACCTTC -3'
Posted On 2016-11-21