Incidental Mutation 'R7071:Ndfip2'
| ID |
548921 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ndfip2
|
| Ensembl Gene |
ENSMUSG00000053253 |
| Gene Name |
Nedd4 family interacting protein 2 |
| Synonyms |
9130207N19Rik, 0710001O20Rik, N4wbp5a |
| MMRRC Submission |
045167-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7071 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
105496008-105546732 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 105539760 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Histidine
at position 292
(N292H)
|
| 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: N265H
| 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 |
possibly damaging
Transcript: ENSMUST00000181969
AA Change: N292H
PolyPhen 2
Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000137875
Gene: ENSMUSG00000053253
AA Change: N292H
| 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: 99.1%
|
| Validation Efficiency |
95% (41/43) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
C |
T |
16: 56,449,503 (GRCm39) |
Q854* |
probably null |
Het |
| Arl2bp |
G |
T |
8: 95,393,794 (GRCm39) |
|
probably benign |
Het |
| Astl |
T |
C |
2: 127,187,885 (GRCm39) |
M121T |
probably benign |
Het |
| Atrip |
T |
C |
9: 108,896,082 (GRCm39) |
|
probably null |
Het |
| Camk1g |
A |
T |
1: 193,042,117 (GRCm39) |
V44E |
probably benign |
Het |
| Cc2d2a |
A |
G |
5: 43,866,455 (GRCm39) |
H804R |
probably benign |
Het |
| Cd300a |
T |
C |
11: 114,792,099 (GRCm39) |
S314P |
probably damaging |
Het |
| Ceacam5 |
A |
T |
7: 17,484,577 (GRCm39) |
I440L |
possibly damaging |
Het |
| Cfap61 |
T |
G |
2: 145,843,832 (GRCm39) |
I306R |
probably benign |
Het |
| Cnot10 |
T |
C |
9: 114,446,787 (GRCm39) |
|
probably null |
Het |
| Cntln |
T |
A |
4: 85,018,622 (GRCm39) |
L76Q |
probably damaging |
Het |
| Cobl |
A |
G |
11: 12,204,795 (GRCm39) |
C636R |
probably benign |
Het |
| Dnm3 |
A |
T |
1: 161,847,412 (GRCm39) |
H148Q |
probably damaging |
Het |
| Dot1l |
T |
A |
10: 80,628,079 (GRCm39) |
L1039Q |
probably benign |
Het |
| Faiml |
T |
A |
9: 99,118,400 (GRCm39) |
M1L |
unknown |
Het |
| Fat1 |
T |
G |
8: 45,442,145 (GRCm39) |
I1149S |
possibly damaging |
Het |
| Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
| Gm11938 |
A |
T |
11: 99,493,910 (GRCm39) |
C62S |
probably damaging |
Het |
| Gtf2i |
A |
G |
5: 134,292,475 (GRCm39) |
L423S |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,479,853 (GRCm39) |
C4582S |
probably damaging |
Het |
| Ifitm3 |
A |
G |
7: 140,590,437 (GRCm39) |
V41A |
probably benign |
Het |
| Ipo11 |
T |
A |
13: 107,061,604 (GRCm39) |
S19C |
probably damaging |
Het |
| Khsrp |
C |
A |
17: 57,332,386 (GRCm39) |
M268I |
possibly damaging |
Het |
| Lrp1b |
T |
G |
2: 41,298,276 (GRCm39) |
D1036A |
|
Het |
| Mecom |
T |
G |
3: 30,034,857 (GRCm39) |
H273P |
probably damaging |
Het |
| Mfn1 |
G |
A |
3: 32,622,544 (GRCm39) |
V601I |
probably benign |
Het |
| Mrps5 |
T |
A |
2: 127,442,772 (GRCm39) |
Y280* |
probably null |
Het |
| Myo18a |
A |
G |
11: 77,714,653 (GRCm39) |
T811A |
probably damaging |
Het |
| Or2ak5 |
C |
A |
11: 58,610,984 (GRCm39) |
V297F |
possibly damaging |
Het |
| Otog |
T |
A |
7: 45,916,747 (GRCm39) |
C895S |
probably damaging |
Het |
| Pacs1 |
A |
T |
19: 5,206,402 (GRCm39) |
I261N |
possibly damaging |
Het |
| Pira13 |
A |
G |
7: 3,824,667 (GRCm39) |
S573P |
unknown |
Het |
| Ptprn |
A |
T |
1: 75,237,263 (GRCm39) |
M113K |
possibly damaging |
Het |
| Rag1 |
T |
C |
2: 101,473,807 (GRCm39) |
H445R |
probably damaging |
Het |
| Ranbp2 |
T |
G |
10: 58,328,659 (GRCm39) |
F2853V |
probably damaging |
Het |
| Skint5 |
A |
T |
4: 113,636,277 (GRCm39) |
F647Y |
unknown |
Het |
| Stt3b |
T |
C |
9: 115,083,085 (GRCm39) |
Y449C |
probably damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,978,855 (GRCm39) |
D455G |
probably benign |
Het |
| Zfp451 |
A |
C |
1: 33,815,825 (GRCm39) |
D708E |
possibly damaging |
Het |
| Zfp456 |
T |
C |
13: 67,520,896 (GRCm39) |
E33G |
probably damaging |
Het |
| Zfp599 |
T |
C |
9: 22,169,392 (GRCm39) |
T27A |
probably benign |
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 |
|
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'- TCACAGAAGTTTGCAATCGCG -3'
(R):5'- CCCTATGTTGGTAAGAAGCAAAGTG -3'
Sequencing Primer
(F):5'- GCAATCGCGTAAGAGTTTCTTC -3'
(R):5'- AAGTGGGAGCCAACCTTCCTTC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation