Incidental Mutation 'R5545:Nfatc2ip'
| ID |
436189 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nfatc2ip
|
| Ensembl Gene |
ENSMUSG00000030722 |
| Gene Name |
nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 2 interacting protein |
| Synonyms |
NIP45, D7Ertd304e |
| MMRRC Submission |
043103-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.208)
|
| Stock # |
R5545 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
125982026-125995909 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 125989642 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 247
(E247D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075094
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075671]
|
| AlphaFold |
O09130 |
| PDB Structure |
The crystal structure of SUMO-like domain 2 in Nip45 [X-RAY DIFFRACTION]
The crystal structure of the SLD2:Ubc9 complex [X-RAY DIFFRACTION]
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075671
AA Change: E247D
PolyPhen 2
Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000075094
Gene: ENSMUSG00000030722
AA Change: E247D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
43 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
84 |
94 |
N/A |
INTRINSIC |
|
low complexity region
|
95 |
106 |
N/A |
INTRINSIC |
|
low complexity region
|
169 |
184 |
N/A |
INTRINSIC |
|
coiled coil region
|
199 |
227 |
N/A |
INTRINSIC |
|
UBQ
|
258 |
328 |
1.31e-8 |
SMART |
|
low complexity region
|
329 |
338 |
N/A |
INTRINSIC |
|
Pfam:Rad60-SLD
|
341 |
411 |
3.6e-14 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000142947
AA Change: E29D
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous null mice display profound defects in the expression of NFAT-regulated cytokine genes and defects in the efficient handling of parasites. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410004B18Rik |
T |
C |
3: 145,644,853 (GRCm39) |
|
probably null |
Het |
| Acot5 |
G |
A |
12: 84,116,380 (GRCm39) |
R47Q |
possibly damaging |
Het |
| Akr1c19 |
A |
T |
13: 4,292,594 (GRCm39) |
Y205F |
probably benign |
Het |
| Cdh6 |
T |
C |
15: 13,041,235 (GRCm39) |
Y564C |
probably damaging |
Het |
| Cngb1 |
A |
G |
8: 95,978,801 (GRCm39) |
S551P |
|
Het |
| Cyp20a1 |
T |
C |
1: 60,415,241 (GRCm39) |
I289T |
possibly damaging |
Het |
| Herc6 |
A |
T |
6: 57,634,992 (GRCm39) |
|
probably null |
Het |
| Ifnar2 |
G |
A |
16: 91,181,913 (GRCm39) |
|
probably null |
Het |
| Kcnd2 |
A |
G |
6: 21,217,018 (GRCm39) |
T241A |
probably damaging |
Het |
| Or2k2 |
T |
G |
4: 58,785,585 (GRCm39) |
I46L |
probably benign |
Het |
| Or2o1 |
G |
A |
11: 49,051,453 (GRCm39) |
C204Y |
probably damaging |
Het |
| Pate10 |
A |
G |
9: 35,652,940 (GRCm39) |
I61V |
probably benign |
Het |
| Plekhg2 |
T |
C |
7: 28,061,886 (GRCm39) |
E638G |
probably damaging |
Het |
| Plin1 |
T |
C |
7: 79,376,257 (GRCm39) |
T160A |
probably benign |
Het |
| Prox1 |
T |
A |
1: 189,879,339 (GRCm39) |
N613I |
probably damaging |
Het |
| Ptpn13 |
A |
G |
5: 103,709,830 (GRCm39) |
S1498G |
probably damaging |
Het |
| Ralbp1 |
C |
T |
17: 66,157,099 (GRCm39) |
R598Q |
possibly damaging |
Het |
| Robo2 |
A |
C |
16: 73,758,635 (GRCm39) |
V712G |
probably damaging |
Het |
| Rsl1d1 |
A |
G |
16: 11,017,514 (GRCm39) |
F151L |
probably damaging |
Het |
| Scrn3 |
T |
A |
2: 73,166,125 (GRCm39) |
I386N |
possibly damaging |
Het |
| Sorl1 |
T |
A |
9: 41,902,921 (GRCm39) |
Y1591F |
probably benign |
Het |
| Tbr1 |
T |
G |
2: 61,637,720 (GRCm39) |
V93G |
possibly damaging |
Het |
| Tmem229b |
A |
G |
12: 79,011,583 (GRCm39) |
I116T |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,594,720 (GRCm39) |
Q12115R |
possibly damaging |
Het |
| Ube3a |
C |
T |
7: 58,921,772 (GRCm39) |
T48M |
probably damaging |
Het |
| Vnn3 |
A |
G |
10: 23,742,992 (GRCm39) |
I401V |
probably benign |
Het |
| Wdr90 |
C |
T |
17: 26,064,830 (GRCm39) |
R1744H |
probably damaging |
Het |
| Zc3h7a |
T |
C |
16: 10,966,315 (GRCm39) |
D604G |
possibly damaging |
Het |
|
| Other mutations in Nfatc2ip |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02106:Nfatc2ip
|
APN |
7 |
125,989,736 (GRCm39) |
splice site |
probably null |
|
|
IGL03137:Nfatc2ip
|
APN |
7 |
125,989,740 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
Weissgott
|
UTSW |
7 |
125,995,182 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0136:Nfatc2ip
|
UTSW |
7 |
125,990,507 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0521:Nfatc2ip
|
UTSW |
7 |
125,995,751 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0657:Nfatc2ip
|
UTSW |
7 |
125,990,507 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1610:Nfatc2ip
|
UTSW |
7 |
125,986,579 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1768:Nfatc2ip
|
UTSW |
7 |
125,989,634 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1932:Nfatc2ip
|
UTSW |
7 |
125,984,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2116:Nfatc2ip
|
UTSW |
7 |
125,984,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2130:Nfatc2ip
|
UTSW |
7 |
125,989,634 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2202:Nfatc2ip
|
UTSW |
7 |
125,990,467 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2350:Nfatc2ip
|
UTSW |
7 |
125,995,170 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4946:Nfatc2ip
|
UTSW |
7 |
125,995,784 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6229:Nfatc2ip
|
UTSW |
7 |
125,995,113 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6460:Nfatc2ip
|
UTSW |
7 |
125,986,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6741:Nfatc2ip
|
UTSW |
7 |
125,995,182 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7355:Nfatc2ip
|
UTSW |
7 |
125,986,783 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7912:Nfatc2ip
|
UTSW |
7 |
125,989,617 (GRCm39) |
nonsense |
probably null |
|
|
R8004:Nfatc2ip
|
UTSW |
7 |
125,989,577 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8206:Nfatc2ip
|
UTSW |
7 |
125,989,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8851:Nfatc2ip
|
UTSW |
7 |
125,986,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9799:Nfatc2ip
|
UTSW |
7 |
125,989,739 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTAAGAAGCCTTGAAAGATG -3'
(R):5'- TCCAGAAGCTAAGGTGCTGG -3'
Sequencing Primer
(F):5'- GCCTTGAAAGATGGGTAAATTTTGCC -3'
(R):5'- AAGCTAAGGTGCTGGGGTCTG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation