Incidental Mutation 'R6152:Ndfip2'
| ID |
489348 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ndfip2
|
| Ensembl Gene |
ENSMUSG00000053253 |
| Gene Name |
Nedd4 family interacting protein 2 |
| Synonyms |
9130207N19Rik, 0710001O20Rik, N4wbp5a |
| MMRRC Submission |
044299-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6152 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
105496008-105546732 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 105535538 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 275
(I275V)
|
| 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: I248V
|
| SMART Domains |
Protein: ENSMUSP00000121854
Gene: ENSMUSG00000053253
AA Change: I248V
| 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 |
noncoding transcript
Transcript: ENSMUST00000149358
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149781
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155351
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000181969
AA Change: I275V
PolyPhen 2
Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000137875
Gene: ENSMUSG00000053253
AA Change: I275V
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.3%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
A |
G |
11: 110,204,187 (GRCm39) |
C363R |
probably damaging |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Anln |
A |
C |
9: 22,271,803 (GRCm39) |
I684R |
probably damaging |
Het |
| Atoh7 |
A |
T |
10: 62,936,278 (GRCm39) |
D115V |
probably damaging |
Het |
| Atp11a |
T |
A |
8: 12,896,100 (GRCm39) |
I223K |
probably damaging |
Het |
| Cabs1 |
C |
T |
5: 88,127,613 (GRCm39) |
T88I |
possibly damaging |
Het |
| Cblb |
T |
A |
16: 51,961,419 (GRCm39) |
C345S |
probably damaging |
Het |
| Cep250 |
A |
G |
2: 155,823,358 (GRCm39) |
E1003G |
possibly damaging |
Het |
| Chpf |
C |
T |
1: 75,452,287 (GRCm39) |
R389H |
possibly damaging |
Het |
| Cntnap5c |
A |
G |
17: 58,593,881 (GRCm39) |
D740G |
possibly damaging |
Het |
| Col19a1 |
T |
C |
1: 24,413,702 (GRCm39) |
T411A |
unknown |
Het |
| Dgat2 |
T |
C |
7: 98,813,885 (GRCm39) |
N99S |
probably benign |
Het |
| Fbxo7 |
A |
T |
10: 85,860,560 (GRCm39) |
T56S |
probably benign |
Het |
| Gm15130 |
T |
A |
2: 110,974,950 (GRCm39) |
Q71L |
unknown |
Het |
| Gpr161 |
T |
A |
1: 165,137,864 (GRCm39) |
V150E |
possibly damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,441,176 (GRCm39) |
E5360G |
probably damaging |
Het |
| Hmg20a |
A |
G |
9: 56,388,892 (GRCm39) |
D153G |
probably damaging |
Het |
| Hrct1 |
T |
A |
4: 43,727,498 (GRCm39) |
V46D |
possibly damaging |
Het |
| Idh1 |
T |
C |
1: 65,198,689 (GRCm39) |
T394A |
probably damaging |
Het |
| Kazn |
A |
G |
4: 141,836,598 (GRCm39) |
I547T |
unknown |
Het |
| Klhdc3 |
A |
T |
17: 46,988,633 (GRCm39) |
I142N |
probably damaging |
Het |
| Lrrc39 |
G |
T |
3: 116,364,624 (GRCm39) |
|
probably null |
Het |
| Mamdc4 |
T |
C |
2: 25,457,451 (GRCm39) |
D510G |
probably damaging |
Het |
| Mcm2 |
TTCTGATAGATGGTCTG |
TTCTG |
6: 88,866,891 (GRCm39) |
|
probably benign |
Het |
| Or1i2 |
T |
C |
10: 78,448,409 (GRCm39) |
D22G |
probably benign |
Het |
| Or5b24 |
A |
T |
19: 12,912,851 (GRCm39) |
I250L |
probably benign |
Het |
| Pacsin2 |
A |
C |
15: 83,261,900 (GRCm39) |
D154E |
probably damaging |
Het |
| Pcdhb5 |
T |
A |
18: 37,455,886 (GRCm39) |
C755* |
probably null |
Het |
| Pcnx2 |
T |
C |
8: 126,480,491 (GRCm39) |
S1939G |
probably damaging |
Het |
| Pfkl |
A |
T |
10: 77,825,985 (GRCm39) |
H602Q |
probably benign |
Het |
| Pon3 |
G |
A |
6: 5,221,716 (GRCm39) |
R305C |
probably damaging |
Het |
| Prpf6 |
A |
G |
2: 181,263,580 (GRCm39) |
R147G |
probably damaging |
Het |
| Sh3yl1 |
A |
G |
12: 30,992,034 (GRCm39) |
E201G |
probably benign |
Het |
| Slc25a36 |
A |
G |
9: 96,982,210 (GRCm39) |
Y22H |
probably damaging |
Het |
| Sult6b2 |
A |
C |
6: 142,750,102 (GRCm39) |
S5R |
probably benign |
Het |
| Susd2 |
C |
T |
10: 75,473,853 (GRCm39) |
A581T |
probably damaging |
Het |
| Tysnd1 |
A |
G |
10: 61,532,113 (GRCm39) |
D255G |
probably damaging |
Het |
| Zbtb6 |
A |
C |
2: 37,319,255 (GRCm39) |
I224M |
probably benign |
Het |
| Zdhhc8 |
G |
T |
16: 18,041,202 (GRCm39) |
N719K |
possibly damaging |
Het |
| Zkscan16 |
A |
G |
4: 58,946,260 (GRCm39) |
E45G |
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 |
|
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 |
|
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'- CATTGCTGGTACCATGTTTCTG -3'
(R):5'- CAGAAGCAATCCCTTTAGGCAG -3'
Sequencing Primer
(F):5'- GCTGGTACCATGTTTCTGTTTATTTG -3'
(R):5'- CCCTTTAGGCAGATTTTAATCAACG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation