Incidental Mutation 'R6741:Nfatc2ip'
| ID |
530451 |
| 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 |
044858-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.224)
|
| Stock # |
R6741 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
125982026-125995909 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 125995182 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 122
(Q122L)
|
| 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: Q122L
PolyPhen 2
Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000075094
Gene: ENSMUSG00000030722
AA Change: Q122L
| 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 |
noncoding transcript
Transcript: ENSMUST00000206502
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| Validation Efficiency |
97% (34/35) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actrt3 |
A |
C |
3: 30,652,663 (GRCm39) |
F144V |
possibly damaging |
Het |
| Arhgef12 |
A |
G |
9: 42,883,503 (GRCm39) |
I1342T |
probably benign |
Het |
| Dbn1 |
A |
G |
13: 55,629,350 (GRCm39) |
|
probably null |
Het |
| Defb12 |
T |
C |
8: 19,164,757 (GRCm39) |
E27G |
probably benign |
Het |
| Dennd2b |
A |
G |
7: 109,144,304 (GRCm39) |
Y534H |
possibly damaging |
Het |
| Dthd1 |
A |
T |
5: 63,000,289 (GRCm39) |
H537L |
probably damaging |
Het |
| Ep400 |
A |
T |
5: 110,824,761 (GRCm39) |
S2359T |
unknown |
Het |
| Epha5 |
T |
C |
5: 84,254,557 (GRCm39) |
I572V |
possibly damaging |
Het |
| Grb10 |
C |
A |
11: 11,886,717 (GRCm39) |
|
probably null |
Het |
| Hectd2 |
T |
C |
19: 36,589,759 (GRCm39) |
I628T |
probably damaging |
Het |
| Il17rb |
T |
A |
14: 29,722,293 (GRCm39) |
Q246L |
possibly damaging |
Het |
| Knop1 |
C |
T |
7: 118,445,061 (GRCm39) |
R301Q |
possibly damaging |
Het |
| Lrp1b |
T |
C |
2: 41,136,001 (GRCm39) |
I1770M |
possibly damaging |
Het |
| Mgst1 |
A |
C |
6: 138,127,836 (GRCm39) |
D66A |
probably damaging |
Het |
| Nags |
A |
G |
11: 102,037,718 (GRCm39) |
D237G |
possibly damaging |
Het |
| Nod2 |
T |
C |
8: 89,379,694 (GRCm39) |
V72A |
probably damaging |
Het |
| Notch3 |
G |
T |
17: 32,362,458 (GRCm39) |
P1389Q |
probably benign |
Het |
| Or5ac25 |
A |
G |
16: 59,181,918 (GRCm39) |
L221P |
probably damaging |
Het |
| Plekhn1 |
A |
T |
4: 156,306,249 (GRCm39) |
I607N |
probably damaging |
Het |
| Plekho2 |
C |
A |
9: 65,471,197 (GRCm39) |
R84L |
probably damaging |
Het |
| Prag1 |
A |
T |
8: 36,614,434 (GRCm39) |
M1329L |
probably benign |
Het |
| Prpsap2 |
C |
T |
11: 61,631,771 (GRCm39) |
|
probably null |
Het |
| Ptprf |
A |
G |
4: 118,080,565 (GRCm39) |
S1230P |
probably benign |
Het |
| Rigi |
A |
G |
4: 40,211,624 (GRCm39) |
I648T |
probably damaging |
Het |
| Rptor |
T |
G |
11: 119,786,803 (GRCm39) |
L1256R |
possibly damaging |
Het |
| Sesn3 |
T |
C |
9: 14,231,636 (GRCm39) |
I189T |
possibly damaging |
Het |
| Skic2 |
G |
A |
17: 35,064,166 (GRCm39) |
R507* |
probably null |
Het |
| Slc39a4 |
C |
T |
15: 76,498,283 (GRCm39) |
D385N |
probably damaging |
Het |
| Tnfsf13b |
T |
C |
8: 10,057,314 (GRCm39) |
F128S |
possibly damaging |
Het |
| Vmn1r49 |
A |
G |
6: 90,049,195 (GRCm39) |
V269A |
probably benign |
Het |
| Vmn2r69 |
T |
A |
7: 85,061,724 (GRCm39) |
E83D |
probably benign |
Het |
| Vmn2r76 |
T |
C |
7: 85,879,560 (GRCm39) |
N247D |
probably benign |
Het |
| Zmym4 |
A |
G |
4: 126,808,878 (GRCm39) |
S390P |
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 |
|
R5545:Nfatc2ip
|
UTSW |
7 |
125,989,642 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
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 |
|
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'- TGAGCATCATTCTCCAGACCC -3'
(R):5'- ACTTTTAGATTGGAGATACGAGGGG -3'
Sequencing Primer
(F):5'- TTCTCCAGACCCTAGATACCACTG -3'
(R):5'- ATCTTCGGGTAGAGGGAGGC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation