Incidental Mutation 'R0965:Nfatc4'
ID |
81617 |
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 |
039094-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0965 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
56062252-56071400 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 56064043 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 107
(S107P)
|
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: S177P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000024179 Gene: ENSMUSG00000023411 AA Change: S177P
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: S177P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000132763 Gene: ENSMUSG00000023411 AA Change: S177P
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: S107P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226536
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226716
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226979
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226834
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227746
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228308
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226869
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.1%
- 20x: 94.5%
|
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: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb2 |
AGAGGAGGAGGAGGAGGAGG |
AGAGGAGGAGGAGGAGG |
4: 129,886,209 (GRCm39) |
|
probably benign |
Het |
Amacr |
C |
T |
15: 10,984,891 (GRCm39) |
R170C |
probably damaging |
Het |
Bcl2 |
A |
T |
1: 106,640,021 (GRCm39) |
L197Q |
probably benign |
Het |
Brd1 |
G |
A |
15: 88,601,231 (GRCm39) |
R468W |
probably damaging |
Het |
Esco1 |
A |
G |
18: 10,567,570 (GRCm39) |
F821L |
probably damaging |
Het |
Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
Gzma |
G |
A |
13: 113,234,868 (GRCm39) |
P38L |
probably damaging |
Het |
Mcc |
A |
G |
18: 44,857,593 (GRCm39) |
L174P |
probably benign |
Het |
Med19 |
A |
G |
2: 84,508,793 (GRCm39) |
E2G |
probably damaging |
Het |
Muc5b |
C |
T |
7: 141,417,539 (GRCm39) |
T3495I |
possibly damaging |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Or9g4b |
A |
G |
2: 85,616,643 (GRCm39) |
S263G |
probably damaging |
Het |
Phf11c |
T |
A |
14: 59,618,931 (GRCm39) |
I285F |
probably damaging |
Het |
Prkdc |
T |
C |
16: 15,647,580 (GRCm39) |
V3668A |
probably benign |
Het |
Rbm20 |
T |
C |
19: 53,847,832 (GRCm39) |
F1126S |
probably damaging |
Het |
Slc7a5 |
T |
C |
8: 122,633,840 (GRCm39) |
E169G |
probably benign |
Het |
Slco1b2 |
C |
A |
6: 141,631,322 (GRCm39) |
T652K |
probably damaging |
Het |
Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
Tmem119 |
A |
C |
5: 113,933,480 (GRCm39) |
V107G |
probably damaging |
Het |
Ttn |
C |
A |
2: 76,629,915 (GRCm39) |
G14205V |
probably damaging |
Het |
Zc3h11a |
T |
C |
1: 133,573,541 (GRCm39) |
N33S |
possibly 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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTGTTCTTGAGTGTCCCAGCATCC -3'
(R):5'- CTCGCTAGAAGTCCTCCGAGTTTTC -3'
Sequencing Primer
(F):5'- CGGATTACCTCCATCTCTCCC -3'
(R):5'- AGGAGTAGCCAGCTATCCTCTG -3'
|
Posted On |
2013-11-08 |