Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4486001:Ndfip2'

556126

Institutional Source

Beutler Lab

Gene Symbol

Ndfip2

Ensembl Gene

ENSMUSG00000053253

Gene Name

Nedd4 family interacting protein 2

Synonyms

9130207N19Rik, 0710001O20Rik, N4wbp5a

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT4486001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

105496008-105546732 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 105532300 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 232 (D232G)

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: D205G

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: D232G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000137875
Gene: ENSMUSG00000053253
AA Change: D232G

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: 93.0%
3x: 90.5%
10x: 84.1%
20x: 70.1%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	T	C	5: 144,980,914 (GRCm39)	S108P	probably damaging	Het
Abhd16b	A	T	2: 181,135,752 (GRCm39)	Q218L	probably benign	Het
Abhd3	T	A	18: 10,645,233 (GRCm39)	I354F	probably benign	Het
Abt1	T	C	13: 23,607,851 (GRCm39)	Y51C	possibly damaging	Het
Actl9	T	A	17: 33,653,172 (GRCm39)	Y411N	possibly damaging	Het
Ano4	A	G	10: 88,828,891 (GRCm39)	V516A	probably damaging	Het
Bptf	A	T	11: 106,945,614 (GRCm39)	S2542T	probably damaging	Het
Card11	C	T	5: 140,862,163 (GRCm39)	V1045M	probably damaging	Het
Ccdc121	T	A	5: 31,645,087 (GRCm39)	I280K	probably damaging	Het
Cd300ld2	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	11: 114,903,257 (GRCm39)		probably benign	Het
Cdh3	A	G	8: 107,268,122 (GRCm39)	K386E	possibly damaging	Het
Cks1b	C	A	3: 89,323,621 (GRCm39)	Q49H	probably damaging	Het
Clpb	A	T	7: 101,313,139 (GRCm39)	D41V	probably benign	Het
Cyp3a11	A	T	5: 145,797,302 (GRCm39)	M359K	probably damaging	Het
Cyp3a13	A	T	5: 137,908,228 (GRCm39)	I207N	probably benign	Het
Dennd4c	T	A	4: 86,717,701 (GRCm39)	L566*	probably null	Het
Dhtkd1	A	T	2: 5,904,806 (GRCm39)	D859E	probably benign	Het
Efcab6	T	C	15: 83,857,514 (GRCm39)	D295G	probably benign	Het
Fcgbp	A	G	7: 27,774,698 (GRCm39)	T91A	possibly damaging	Het
Gm11569	GCAGCTGGGCCTGCAGCAGCTGGAAATGCAGCAGCTAGGACGGCAACA	GCA	11: 99,689,491 (GRCm39)		probably benign	Het
Gsdma3	A	G	11: 98,528,880 (GRCm39)	K454E	unknown	Het
Herc1	T	A	9: 66,279,671 (GRCm39)	I193N	probably damaging	Het
Kdm5b	T	A	1: 134,556,423 (GRCm39)	L1370Q	probably damaging	Het
Lrrc37	A	T	11: 103,509,027 (GRCm39)	H980Q	unknown	Het
Map4	T	G	9: 109,901,682 (GRCm39)	V965G	probably damaging	Het
Mkrn2os	T	C	6: 115,562,444 (GRCm39)	D173G	probably benign	Het
Nipal2	C	T	15: 34,584,875 (GRCm39)	G231D	probably damaging	Het
Notch3	A	T	17: 32,373,737 (GRCm39)	N490K	probably damaging	Het
Or5p68	A	G	7: 107,945,529 (GRCm39)	S220P	possibly damaging	Het
Or8g50	T	A	9: 39,648,535 (GRCm39)	C141*	probably null	Het
Prkar2a	T	C	9: 108,610,326 (GRCm39)	L185S	probably damaging	Het
Ptpn9	T	G	9: 56,968,287 (GRCm39)	N542K	probably damaging	Het
Pus10	G	A	11: 23,662,326 (GRCm39)		probably null	Het
Pyroxd2	A	G	19: 42,728,828 (GRCm39)	S191P	probably benign	Het
Rab15	T	A	12: 76,848,716 (GRCm39)	K122*	probably null	Het
Rara	A	G	11: 98,864,321 (GRCm39)	N416S	possibly damaging	Het
Rims2	T	C	15: 39,339,916 (GRCm39)	V870A	possibly damaging	Het
Sec16a	T	C	2: 26,315,785 (GRCm39)	T293A		Het
Slc26a3	G	A	12: 31,520,949 (GRCm39)	D718N	probably benign	Het
Slc44a5	G	A	3: 153,964,659 (GRCm39)	V520I	possibly damaging	Het
Spata31e2	G	A	1: 26,724,410 (GRCm39)	P257S	probably damaging	Het
Tgfb2	A	T	1: 186,422,924 (GRCm39)	Y142N	probably benign	Het
Tgfbi	A	T	13: 56,777,607 (GRCm39)	I364F	probably damaging	Het
Tmem144	A	C	3: 79,734,174 (GRCm39)	D176E	probably benign	Het
Tns4	A	T	11: 98,962,161 (GRCm39)	L612Q	probably damaging	Het
Toe1	A	G	4: 116,663,692 (GRCm39)	L76S	probably damaging	Het
Trank1	T	C	9: 111,219,175 (GRCm39)	F1971L	probably damaging	Het
Tsen54	G	T	11: 115,713,422 (GRCm39)	V481F	probably damaging	Het
Uimc1	A	G	13: 55,223,381 (GRCm39)	L297P	probably damaging	Het
Wnt8a	T	C	18: 34,680,636 (GRCm39)	Y334H	probably damaging	Het
Zfp281	A	G	1: 136,554,741 (GRCm39)	D573G	possibly 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
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
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'- ATGCTGCTAATGTCTTATCTGTAGG -3'
(R):5'- GCCCACAGTCTTAGATGGTC -3'

Sequencing Primer
(F):5'- CTTATCTGTAGGACCACTTGAGAGC -3'
(R):5'- CAGTCTTAGATGGTCAGCAACAGTTC -3'

Posted On

2019-06-07