Incidental Mutation 'R4200:Nfatc4'
ID |
318732 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nfatc4
|
Ensembl Gene |
ENSMUSG00000023411 |
Gene Name |
nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 4 |
Synonyms |
3110041H08Rik |
MMRRC Submission |
041030-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4200 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
56062252-56071400 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 56069489 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 672
(R672W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132763
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024179]
[ENSMUST00000172271]
[ENSMUST00000226357]
|
AlphaFold |
Q8K120 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000024179
AA Change: R672W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000024179 Gene: ENSMUSG00000023411 AA Change: R672W
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
35 |
N/A |
INTRINSIC |
low complexity region
|
53 |
82 |
N/A |
INTRINSIC |
low complexity region
|
96 |
108 |
N/A |
INTRINSIC |
low complexity region
|
114 |
130 |
N/A |
INTRINSIC |
low complexity region
|
151 |
190 |
N/A |
INTRINSIC |
low complexity region
|
211 |
224 |
N/A |
INTRINSIC |
low complexity region
|
272 |
285 |
N/A |
INTRINSIC |
low complexity region
|
286 |
312 |
N/A |
INTRINSIC |
Pfam:RHD_DNA_bind
|
419 |
578 |
3.5e-23 |
PFAM |
IPT
|
585 |
684 |
1.29e-21 |
SMART |
low complexity region
|
700 |
711 |
N/A |
INTRINSIC |
low complexity region
|
716 |
726 |
N/A |
INTRINSIC |
low complexity region
|
803 |
825 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000172271
AA Change: R672W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000132763 Gene: ENSMUSG00000023411 AA Change: R672W
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
35 |
N/A |
INTRINSIC |
low complexity region
|
53 |
82 |
N/A |
INTRINSIC |
low complexity region
|
96 |
108 |
N/A |
INTRINSIC |
low complexity region
|
114 |
130 |
N/A |
INTRINSIC |
low complexity region
|
151 |
190 |
N/A |
INTRINSIC |
low complexity region
|
211 |
224 |
N/A |
INTRINSIC |
low complexity region
|
272 |
285 |
N/A |
INTRINSIC |
low complexity region
|
286 |
312 |
N/A |
INTRINSIC |
Pfam:RHD
|
419 |
578 |
3.4e-23 |
PFAM |
IPT
|
585 |
684 |
1.29e-21 |
SMART |
low complexity region
|
700 |
711 |
N/A |
INTRINSIC |
low complexity region
|
716 |
726 |
N/A |
INTRINSIC |
low complexity region
|
803 |
825 |
N/A |
INTRINSIC |
low complexity region
|
878 |
889 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226293
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000226357
AA Change: R602W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226536
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226716
|
Predicted Effect |
unknown
Transcript: ENSMUST00000228308
AA Change: R145W
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226834
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226869
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227746
|
Meta Mutation Damage Score |
0.3134 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
Validation Efficiency |
100% (40/40) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the nuclear factor of activated T cells (NFAT) protein family. The encoded protein is part of a DNA-binding transcription complex. This complex consists of at least two components: a preexisting cytosolic component that translocates to the nucleus upon T cell receptor stimulation and an inducible nuclear component. NFAT proteins are activated by the calmodulin-dependent phosphatase, calcineurin. The encoded protein plays a role in the inducible expression of cytokine genes in T cells, especially in the induction of interleukin-2 and interleukin-4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] PHENOTYPE: Mice homozygous for a knock-out allele are viable and overtly normal and exhibit normal embryonic heart morphology as well as normal pathophysiologic cardiac hypertrophy in response to angiotensin II infusion or aortic banding. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadac |
T |
A |
3: 59,946,955 (GRCm39) |
Y218N |
probably damaging |
Het |
Aox3 |
A |
G |
1: 58,227,537 (GRCm39) |
E1214G |
probably damaging |
Het |
Arhgap31 |
G |
A |
16: 38,444,275 (GRCm39) |
A194V |
probably damaging |
Het |
Asxl1 |
C |
A |
2: 153,242,026 (GRCm39) |
L859I |
possibly damaging |
Het |
C7 |
A |
G |
15: 5,019,791 (GRCm39) |
|
probably null |
Het |
Col6a3 |
C |
A |
1: 90,729,105 (GRCm39) |
V1279L |
probably benign |
Het |
Dnah3 |
C |
T |
7: 119,522,061 (GRCm39) |
G4033D |
probably damaging |
Het |
Etl4 |
C |
A |
2: 20,786,694 (GRCm39) |
H481Q |
probably damaging |
Het |
Foxg1 |
T |
A |
12: 49,432,082 (GRCm39) |
S272T |
possibly damaging |
Het |
Gm3336 |
A |
T |
8: 71,173,261 (GRCm39) |
D91V |
probably benign |
Het |
Hnf4g |
T |
G |
3: 3,716,344 (GRCm39) |
V256G |
possibly damaging |
Het |
Hyou1 |
G |
A |
9: 44,300,156 (GRCm39) |
R815H |
probably damaging |
Het |
Ifi203 |
A |
C |
1: 173,751,681 (GRCm39) |
I380S |
probably damaging |
Het |
Map2 |
C |
T |
1: 66,464,457 (GRCm39) |
R128C |
probably damaging |
Het |
Mboat7 |
C |
A |
7: 3,688,752 (GRCm39) |
A259S |
possibly damaging |
Het |
Mroh8 |
C |
T |
2: 157,083,730 (GRCm39) |
V381M |
probably benign |
Het |
Muc5b |
T |
A |
7: 141,412,662 (GRCm39) |
C1869* |
probably null |
Het |
Nup210l |
T |
C |
3: 90,027,218 (GRCm39) |
I200T |
probably damaging |
Het |
Olr1 |
A |
G |
6: 129,479,068 (GRCm39) |
V50A |
probably damaging |
Het |
Or1i2 |
A |
T |
10: 78,447,901 (GRCm39) |
D191E |
possibly damaging |
Het |
Or51h7 |
A |
G |
7: 102,591,004 (GRCm39) |
F260S |
probably damaging |
Het |
Pcdhgb5 |
A |
G |
18: 37,865,035 (GRCm39) |
I277V |
possibly damaging |
Het |
Pknox1 |
C |
A |
17: 31,818,584 (GRCm39) |
N272K |
probably benign |
Het |
Psg23 |
T |
C |
7: 18,345,990 (GRCm39) |
D235G |
probably damaging |
Het |
Slc1a1 |
A |
G |
19: 28,878,852 (GRCm39) |
K197R |
probably benign |
Het |
Tgm2 |
C |
A |
2: 157,974,410 (GRCm39) |
R207L |
probably benign |
Het |
Trim29 |
G |
T |
9: 43,222,677 (GRCm39) |
E169* |
probably null |
Het |
Ttc24 |
T |
C |
3: 87,981,824 (GRCm39) |
T81A |
probably benign |
Het |
Ttll1 |
A |
T |
15: 83,376,778 (GRCm39) |
I315N |
probably damaging |
Het |
Ttll12 |
T |
C |
15: 83,461,214 (GRCm39) |
N602D |
probably damaging |
Het |
Vmn1r18 |
A |
T |
6: 57,367,101 (GRCm39) |
V151E |
probably benign |
Het |
Vmn2r100 |
T |
A |
17: 19,742,797 (GRCm39) |
D390E |
probably benign |
Het |
Zfp26 |
T |
C |
9: 20,348,012 (GRCm39) |
T851A |
probably benign |
Het |
Zfp58 |
T |
G |
13: 67,639,440 (GRCm39) |
R350S |
probably benign |
Het |
|
Other mutations in Nfatc4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00690:Nfatc4
|
APN |
14 |
56,070,019 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01295:Nfatc4
|
APN |
14 |
56,069,962 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01791:Nfatc4
|
APN |
14 |
56,069,695 (GRCm39) |
missense |
probably null |
0.04 |
IGL02536:Nfatc4
|
APN |
14 |
56,067,367 (GRCm39) |
missense |
probably damaging |
1.00 |
R0448:Nfatc4
|
UTSW |
14 |
56,069,111 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0571:Nfatc4
|
UTSW |
14 |
56,067,485 (GRCm39) |
missense |
probably damaging |
0.96 |
R0743:Nfatc4
|
UTSW |
14 |
56,064,101 (GRCm39) |
missense |
probably damaging |
1.00 |
R0884:Nfatc4
|
UTSW |
14 |
56,064,101 (GRCm39) |
missense |
probably damaging |
1.00 |
R0965:Nfatc4
|
UTSW |
14 |
56,064,043 (GRCm39) |
missense |
probably damaging |
1.00 |
R1141:Nfatc4
|
UTSW |
14 |
56,070,088 (GRCm39) |
missense |
probably damaging |
1.00 |
R2309:Nfatc4
|
UTSW |
14 |
56,064,461 (GRCm39) |
missense |
probably damaging |
1.00 |
R2680:Nfatc4
|
UTSW |
14 |
56,070,291 (GRCm39) |
unclassified |
probably benign |
|
R4905:Nfatc4
|
UTSW |
14 |
56,068,039 (GRCm39) |
missense |
probably benign |
0.16 |
R5067:Nfatc4
|
UTSW |
14 |
56,069,875 (GRCm39) |
missense |
probably damaging |
0.98 |
R5202:Nfatc4
|
UTSW |
14 |
56,064,116 (GRCm39) |
missense |
probably damaging |
1.00 |
R5415:Nfatc4
|
UTSW |
14 |
56,070,091 (GRCm39) |
missense |
probably benign |
|
R5585:Nfatc4
|
UTSW |
14 |
56,064,212 (GRCm39) |
missense |
probably damaging |
0.98 |
R5599:Nfatc4
|
UTSW |
14 |
56,069,733 (GRCm39) |
missense |
probably benign |
0.02 |
R6030:Nfatc4
|
UTSW |
14 |
56,069,897 (GRCm39) |
nonsense |
probably null |
|
R6030:Nfatc4
|
UTSW |
14 |
56,069,897 (GRCm39) |
nonsense |
probably null |
|
R6172:Nfatc4
|
UTSW |
14 |
56,066,990 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7292:Nfatc4
|
UTSW |
14 |
56,062,512 (GRCm39) |
missense |
probably damaging |
1.00 |
R7473:Nfatc4
|
UTSW |
14 |
56,069,421 (GRCm39) |
missense |
probably benign |
0.19 |
R7738:Nfatc4
|
UTSW |
14 |
56,069,414 (GRCm39) |
missense |
possibly damaging |
0.83 |
R8309:Nfatc4
|
UTSW |
14 |
56,063,848 (GRCm39) |
missense |
probably damaging |
0.99 |
R8445:Nfatc4
|
UTSW |
14 |
56,063,875 (GRCm39) |
missense |
possibly damaging |
0.85 |
R8853:Nfatc4
|
UTSW |
14 |
56,063,690 (GRCm39) |
missense |
probably damaging |
0.98 |
R9177:Nfatc4
|
UTSW |
14 |
56,064,685 (GRCm39) |
missense |
probably damaging |
1.00 |
R9268:Nfatc4
|
UTSW |
14 |
56,064,685 (GRCm39) |
missense |
probably damaging |
1.00 |
R9553:Nfatc4
|
UTSW |
14 |
56,070,259 (GRCm39) |
missense |
probably damaging |
1.00 |
R9667:Nfatc4
|
UTSW |
14 |
56,066,964 (GRCm39) |
missense |
probably benign |
0.36 |
|
Predicted Primers |
PCR Primer
(F):5'- AACGGGCTTAACTCCTCAGC -3'
(R):5'- CCTCCTTGAAGACCACTAGGAAG -3'
Sequencing Primer
(F):5'- TAACTCCTCAGCCTTGGAACTAG -3'
(R):5'- TCCTTGAAGACCACTAGGAAGATGAG -3'
|
Posted On |
2015-06-10 |