Incidental Mutation 'IGL02536:Nfatc4'
| ID |
297504 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nfatc4
|
| Ensembl Gene |
ENSMUSG00000023411 |
| Gene Name |
nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 4 |
| Synonyms |
3110041H08Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02536
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
56062252-56071400 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 56067367 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 456
(I456F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154682
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024179]
[ENSMUST00000172271]
[ENSMUST00000226357]
[ENSMUST00000226979]
|
| AlphaFold |
Q8K120 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024179
AA Change: I526F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000024179
Gene: ENSMUSG00000023411
AA Change: I526F
| 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: I526F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132763
Gene: ENSMUSG00000023411
AA Change: I526F
| 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: I456F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226536
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226716
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226834
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000228308
AA Change: I38F
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226979
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226869
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227746
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930449A18Rik |
T |
A |
3: 59,685,665 (GRCm39) |
|
noncoding transcript |
Het |
| Abca8b |
C |
T |
11: 109,872,574 (GRCm39) |
R9H |
probably benign |
Het |
| Adamts8 |
T |
A |
9: 30,873,368 (GRCm39) |
S858T |
probably benign |
Het |
| Alg1 |
C |
T |
16: 5,057,023 (GRCm39) |
Q245* |
probably null |
Het |
| Ankmy1 |
T |
C |
1: 92,813,910 (GRCm39) |
Y423C |
probably damaging |
Het |
| Anp32a |
A |
T |
9: 62,279,110 (GRCm39) |
T55S |
probably damaging |
Het |
| Arhgef9 |
A |
C |
X: 94,102,443 (GRCm39) |
V406G |
probably damaging |
Het |
| Bdkrb1 |
T |
C |
12: 105,571,259 (GRCm39) |
F275S |
possibly damaging |
Het |
| Card9 |
C |
T |
2: 26,248,844 (GRCm39) |
V102I |
possibly damaging |
Het |
| Ccdc81 |
A |
T |
7: 89,526,788 (GRCm39) |
|
probably benign |
Het |
| Cd101 |
T |
A |
3: 100,910,913 (GRCm39) |
D915V |
probably damaging |
Het |
| Cdk10 |
A |
G |
8: 123,953,754 (GRCm39) |
D77G |
possibly damaging |
Het |
| Ctnnd1 |
T |
C |
2: 84,435,540 (GRCm39) |
T827A |
probably benign |
Het |
| Dspp |
A |
C |
5: 104,323,531 (GRCm39) |
T225P |
probably damaging |
Het |
| Evpl |
T |
C |
11: 116,112,035 (GRCm39) |
E1885G |
probably damaging |
Het |
| Fstl4 |
C |
T |
11: 53,024,851 (GRCm39) |
|
probably benign |
Het |
| Gm5930 |
T |
A |
14: 44,575,015 (GRCm39) |
N57I |
probably damaging |
Het |
| Gnl2 |
C |
T |
4: 124,946,401 (GRCm39) |
Q541* |
probably null |
Het |
| Igkv3-1 |
T |
C |
6: 70,681,035 (GRCm39) |
V78A |
probably benign |
Het |
| Inpp5a |
T |
C |
7: 139,147,338 (GRCm39) |
I321T |
probably benign |
Het |
| Kif20b |
T |
A |
19: 34,951,959 (GRCm39) |
S1746T |
probably benign |
Het |
| Lrrc8c |
T |
C |
5: 105,755,038 (GRCm39) |
I271T |
probably benign |
Het |
| Mrps10 |
T |
C |
17: 47,685,928 (GRCm39) |
Y152H |
probably damaging |
Het |
| Myl9 |
C |
T |
2: 156,620,469 (GRCm39) |
S2L |
probably damaging |
Het |
| Myof |
A |
T |
19: 37,938,103 (GRCm39) |
H870Q |
probably damaging |
Het |
| Notch2 |
A |
G |
3: 98,009,723 (GRCm39) |
H550R |
probably benign |
Het |
| Or13f5 |
T |
A |
4: 52,825,817 (GRCm39) |
V140D |
possibly damaging |
Het |
| Or14j2 |
T |
A |
17: 37,885,817 (GRCm39) |
I166F |
probably damaging |
Het |
| Or51v8 |
T |
A |
7: 103,320,164 (GRCm39) |
I25F |
possibly damaging |
Het |
| Or8b47 |
T |
C |
9: 38,435,460 (GRCm39) |
L144P |
probably damaging |
Het |
| P2rx1 |
A |
T |
11: 72,903,300 (GRCm39) |
I230F |
probably damaging |
Het |
| Pcnt |
A |
G |
10: 76,216,063 (GRCm39) |
V2275A |
possibly damaging |
Het |
| Pip5k1a |
G |
A |
3: 94,971,707 (GRCm39) |
T465I |
probably benign |
Het |
| Pnkd |
G |
A |
1: 74,391,059 (GRCm39) |
R415H |
probably damaging |
Het |
| Prdx4 |
T |
A |
X: 154,115,443 (GRCm39) |
I132F |
probably damaging |
Het |
| Pvr |
A |
G |
7: 19,652,717 (GRCm39) |
M66T |
probably benign |
Het |
| Rnf216 |
A |
G |
5: 143,065,995 (GRCm39) |
I531T |
probably benign |
Het |
| Rps6ka4 |
A |
T |
19: 6,809,439 (GRCm39) |
F405Y |
probably damaging |
Het |
| Serpinb2 |
A |
G |
1: 107,452,679 (GRCm39) |
|
probably benign |
Het |
| Sfxn1 |
A |
G |
13: 54,239,513 (GRCm39) |
K12R |
probably benign |
Het |
| Slc17a7 |
A |
G |
7: 44,820,370 (GRCm39) |
E275G |
probably damaging |
Het |
| Tnpo2 |
A |
T |
8: 85,771,696 (GRCm39) |
I245F |
probably benign |
Het |
| Ush2a |
A |
T |
1: 188,689,463 (GRCm39) |
|
probably null |
Het |
| Yju2b |
A |
T |
8: 84,987,245 (GRCm39) |
Y109* |
probably null |
Het |
| Zcchc4 |
C |
T |
5: 52,965,658 (GRCm39) |
R321W |
probably damaging |
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 |
|
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 |
|
|
R4200:Nfatc4
|
UTSW |
14 |
56,069,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation