Mutagenetix > Incidental Mutation

Incidental Mutation 'R7846:Ndfip2'

606643

Institutional Source

Beutler Lab

Gene Symbol

Ndfip2

Ensembl Gene

ENSMUSG00000053253

Gene Name

Nedd4 family interacting protein 2

Synonyms

9130207N19Rik, 0710001O20Rik, N4wbp5a

MMRRC Submission

045900-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7846 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

105496008-105546732 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 105535448 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 245 (F245L)

Ref Sequence

ENSEMBL: ENSMUSP00000137875 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000181969]

AlphaFold

no structure available at present

Predicted Effect

SMART Domains

Protein: ENSMUSP00000121854
Gene: ENSMUSG00000053253
AA Change: F218L

Domain	Start	End	E-Value	Type
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

probably damaging
Transcript: ENSMUST00000181969
AA Change: F245L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000137875
Gene: ENSMUSG00000053253
AA Change: F245L

Domain	Start	End	E-Value	Type
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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abraxas1	A	G	5: 100,954,698 (GRCm39)	V247A	probably damaging	Het
Acot13	G	T	13: 25,002,133 (GRCm39)	T103K	probably damaging	Het
Acsl6	A	T	11: 54,251,901 (GRCm39)	I683F	probably damaging	Het
Acss2	A	T	2: 155,402,953 (GRCm39)	H577L	probably damaging	Het
Ahctf1	A	T	1: 179,614,638 (GRCm39)	V382D	probably damaging	Het
Aldob	T	C	4: 49,538,858 (GRCm39)	H220R	probably damaging	Het
Ankrd1	C	T	19: 36,094,218 (GRCm39)	V169M	probably damaging	Het
Atp5f1a	G	A	18: 77,869,015 (GRCm39)	R413H	possibly damaging	Het
Cep76	A	G	18: 67,762,975 (GRCm39)	F283L	probably damaging	Het
Chrna5	A	T	9: 54,912,391 (GRCm39)	D397V	probably benign	Het
Coro7	T	C	16: 4,488,400 (GRCm39)	D90G	probably damaging	Het
Csnk1g3	A	G	18: 54,081,177 (GRCm39)	N383D	probably benign	Het
Cwf19l2	C	A	9: 3,477,889 (GRCm39)	Q865K	probably damaging	Het
Cyth2	C	A	7: 45,460,378 (GRCm39)	W149C	probably damaging	Het
Dgkh	C	A	14: 78,856,026 (GRCm39)	R349L	probably damaging	Het
Dnajc1	G	T	2: 18,224,704 (GRCm39)	T383N	possibly damaging	Het
Efcab3	T	A	11: 104,605,571 (GRCm39)		probably null	Het
Extl3	A	T	14: 65,313,181 (GRCm39)	M667K	probably damaging	Het
Fam149a	G	T	8: 45,811,678 (GRCm39)	A75E		Het
Fgd4	T	G	16: 16,240,590 (GRCm39)	Q713P	probably damaging	Het
Frat2	T	A	19: 41,836,215 (GRCm39)	I46F	probably damaging	Het
Gzmc	A	G	14: 56,469,017 (GRCm39)	V234A	probably damaging	Het
H2-Q4	A	G	17: 35,599,134 (GRCm39)	N135D	probably damaging	Het
Ighv1-85	A	T	12: 115,963,937 (GRCm39)	V21D	possibly damaging	Het
Itprid1	A	G	6: 55,955,320 (GRCm39)	Q976R	possibly damaging	Het
Kcna6	A	T	6: 126,715,983 (GRCm39)	V302E	probably damaging	Het
Kdm3b	G	T	18: 34,942,293 (GRCm39)	V795L	possibly damaging	Het
Kdm5b	G	A	1: 134,545,578 (GRCm39)	R913H	probably damaging	Het
Lpp	T	A	16: 24,426,876 (GRCm39)	M1K	probably null	Het
Med12l	T	C	3: 59,172,355 (GRCm39)	S1704P	probably damaging	Het
Mfsd10	G	T	5: 34,793,456 (GRCm39)	S95*	probably null	Het
Napepld	C	T	5: 21,880,721 (GRCm39)	E225K	probably benign	Het
Oaf	G	A	9: 43,134,077 (GRCm39)	R215C	probably damaging	Het
Or10k2	A	G	8: 84,268,526 (GRCm39)	H251R	probably damaging	Het
Or13a20	C	T	7: 140,232,374 (GRCm39)	H161Y	probably damaging	Het
Or51i1	A	G	7: 103,670,736 (GRCm39)	I263T	possibly damaging	Het
Or52z15	A	G	7: 103,332,407 (GRCm39)	I161V	probably benign	Het
Or5p6	A	G	7: 107,631,199 (GRCm39)	I117T	probably benign	Het
Or8b47	A	G	9: 38,435,675 (GRCm39)	T216A	probably benign	Het
Pcdhgb2	A	T	18: 37,825,273 (GRCm39)	I755F	possibly damaging	Het
Pde4dip	A	G	3: 97,622,490 (GRCm39)	L1573P	probably damaging	Het
Peg3	A	T	7: 6,713,650 (GRCm39)	V524E	probably damaging	Het
Phc1	G	T	6: 122,310,329 (GRCm39)	T126N	probably damaging	Het
Phf1	C	A	17: 27,154,291 (GRCm39)	Y169*	probably null	Het
Pramel25	A	T	4: 143,520,563 (GRCm39)	D269V	probably benign	Het
Prl3a1	G	A	13: 27,456,442 (GRCm39)	E99K	probably damaging	Het
Prss57	G	A	10: 79,623,213 (GRCm39)	A78V	probably damaging	Het
Ptprb	A	T	10: 116,119,453 (GRCm39)	T196S	probably benign	Het
Rgsl1	A	T	1: 153,701,783 (GRCm39)	C224S	possibly damaging	Het
Rtn4	T	C	11: 29,643,274 (GRCm39)	V29A	unknown	Het
Selplg	G	A	5: 113,957,481 (GRCm39)	T275M	probably damaging	Het
Skint11	C	T	4: 114,102,076 (GRCm39)	T363I	possibly damaging	Het
Slc22a29	T	A	19: 8,170,851 (GRCm39)	I289F	probably benign	Het
Slc26a2	A	G	18: 61,331,776 (GRCm39)	S552P	probably benign	Het
Sptb	T	A	12: 76,655,300 (GRCm39)	K1480*	probably null	Het
Sptbn1	C	A	11: 30,092,153 (GRCm39)	M537I	probably damaging	Het
Sqor	A	T	2: 122,627,008 (GRCm39)	H43L	probably benign	Het
Srcin1	C	A	11: 97,416,926 (GRCm39)	E913*	probably null	Het
Srgap1	A	G	10: 121,621,397 (GRCm39)	L1032P	probably damaging	Het
Stc2	T	C	11: 31,315,413 (GRCm39)	K142R	probably benign	Het
Stox1	A	C	10: 62,495,305 (GRCm39)	N989K	probably damaging	Het
Tert	T	A	13: 73,776,314 (GRCm39)	L355H	probably damaging	Het
Tfb2m	A	G	1: 179,358,926 (GRCm39)	F319S	probably damaging	Het
Trps1	A	G	15: 50,695,273 (GRCm39)	F341L	probably damaging	Het
Ttk	T	C	9: 83,725,732 (GRCm39)	V218A	probably benign	Het
Vmn1r159	A	G	7: 22,542,696 (GRCm39)	I112T	probably benign	Het
Vps8	C	A	16: 21,351,070 (GRCm39)	Q916K	probably benign	Het
Wdr12	A	T	1: 60,121,225 (GRCm39)	D364E	probably damaging	Het
Ylpm1	A	G	12: 85,104,042 (GRCm39)	E2019G	probably damaging	Het
Zfp267	C	A	3: 36,219,738 (GRCm39)	T587N	probably benign	Het
Zfp507	A	G	7: 35,493,963 (GRCm39)	L360P	probably damaging	Het

Other mutations in Ndfip2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- AACTGATAGGTCTGCAAACAGC -3'
(R):5'- AAGCTGTCAGAGTTACAGAATCAG -3'

Sequencing Primer
(F):5'- CATGCTGTGGTGGTCTCTAAGGAC -3'
(R):5'- ACTCAGTGGAATGCATGTGC -3'

Posted On

2019-12-20