Incidental Mutation 'R8445:Nfatc4'
| ID |
654467 |
| 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 |
067886-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8445 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
56062252-56071400 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 56063875 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 121
(I121L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024179
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024179]
[ENSMUST00000172271]
[ENSMUST00000226357]
[ENSMUST00000226979]
|
| AlphaFold |
Q8K120 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000024179
AA Change: I121L
PolyPhen 2
Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000024179
Gene: ENSMUSG00000023411
AA Change: I121L
| 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 |
possibly damaging
Transcript: ENSMUST00000172271
AA Change: I121L
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000132763
Gene: ENSMUSG00000023411
AA Change: I121L
| 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 |
possibly damaging
Transcript: ENSMUST00000226357
AA Change: I51L
PolyPhen 2
Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226979
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228308
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam10 |
T |
G |
9: 70,674,203 (GRCm39) |
S522A |
probably benign |
Het |
| Akap13 |
G |
A |
7: 75,380,213 (GRCm39) |
R462H |
probably damaging |
Het |
| Alg12 |
C |
T |
15: 88,698,689 (GRCm39) |
R212Q |
probably benign |
Het |
| C330018D20Rik |
G |
A |
18: 57,090,962 (GRCm39) |
P67L |
probably damaging |
Het |
| Col3a1 |
C |
T |
1: 45,380,340 (GRCm39) |
R955* |
probably null |
Het |
| Cyp2j12 |
T |
A |
4: 96,021,259 (GRCm39) |
I116F |
possibly damaging |
Het |
| Cyp4a10 |
T |
A |
4: 115,382,791 (GRCm39) |
W331R |
probably damaging |
Het |
| Dmbt1 |
T |
A |
7: 130,692,110 (GRCm39) |
Y959N |
unknown |
Het |
| Dytn |
T |
A |
1: 63,686,673 (GRCm39) |
K332N |
probably benign |
Het |
| E130308A19Rik |
T |
A |
4: 59,720,526 (GRCm39) |
V686D |
probably damaging |
Het |
| Epha8 |
T |
C |
4: 136,659,600 (GRCm39) |
Y792C |
probably benign |
Het |
| Fam53c |
T |
C |
18: 34,901,368 (GRCm39) |
V95A |
probably benign |
Het |
| Fbxl4 |
C |
A |
4: 22,385,983 (GRCm39) |
Q197K |
probably benign |
Het |
| Fmod |
G |
A |
1: 133,968,736 (GRCm39) |
V259I |
probably benign |
Het |
| Insrr |
T |
C |
3: 87,720,891 (GRCm39) |
S1050P |
probably damaging |
Het |
| Itga4 |
A |
G |
2: 79,112,125 (GRCm39) |
M347V |
probably benign |
Het |
| Kdm5d |
A |
G |
Y: 916,874 (GRCm39) |
E423G |
probably damaging |
Het |
| Klra7 |
A |
T |
6: 130,204,078 (GRCm39) |
I147N |
possibly damaging |
Het |
| Lbx1 |
T |
A |
19: 45,222,651 (GRCm39) |
K124I |
probably damaging |
Het |
| Map4k5 |
T |
A |
12: 69,897,741 (GRCm39) |
H138L |
probably damaging |
Het |
| Mc3r |
A |
G |
2: 172,091,237 (GRCm39) |
H153R |
probably damaging |
Het |
| Myh15 |
C |
A |
16: 48,940,381 (GRCm39) |
T777N |
probably damaging |
Het |
| Nipa1 |
A |
T |
7: 55,629,466 (GRCm39) |
S216T |
probably benign |
Het |
| Nlrp4e |
A |
T |
7: 23,039,965 (GRCm39) |
I763L |
probably benign |
Het |
| Nop2 |
A |
G |
6: 125,111,567 (GRCm39) |
D100G |
probably benign |
Het |
| Or2a52 |
A |
G |
6: 43,144,231 (GRCm39) |
M80V |
probably benign |
Het |
| Or8b12i |
T |
A |
9: 20,082,394 (GRCm39) |
I158L |
probably benign |
Het |
| Prelid3a |
A |
G |
18: 67,606,848 (GRCm39) |
E80G |
probably damaging |
Het |
| Prl4a1 |
T |
C |
13: 28,205,445 (GRCm39) |
S137P |
possibly damaging |
Het |
| Rbpms2 |
C |
T |
9: 65,558,303 (GRCm39) |
A113V |
possibly damaging |
Het |
| Rph3a |
T |
C |
5: 121,111,433 (GRCm39) |
E49G |
probably damaging |
Het |
| Shisa7 |
A |
T |
7: 4,839,352 (GRCm39) |
M124K |
probably benign |
Het |
| Shprh |
C |
T |
10: 11,057,313 (GRCm39) |
P1078S |
possibly damaging |
Het |
| Slc30a7 |
C |
T |
3: 115,800,995 (GRCm39) |
|
probably benign |
Het |
| Smarca4 |
CGAGGAGGAGGAGGAGG |
CGAGGAGGAGGAGG |
9: 21,612,239 (GRCm39) |
|
probably benign |
Het |
| Smg1 |
A |
C |
7: 117,736,200 (GRCm39) |
N3563K |
possibly damaging |
Het |
| Spata31d1c |
G |
T |
13: 65,180,991 (GRCm39) |
S30I |
probably damaging |
Het |
| St6galnac6 |
A |
G |
2: 32,498,532 (GRCm39) |
|
probably benign |
Het |
| Tcp11l1 |
C |
A |
2: 104,512,278 (GRCm39) |
E451D |
probably benign |
Het |
| Tfpt |
G |
A |
7: 3,623,928 (GRCm39) |
P160S |
probably damaging |
Het |
| Thbs4 |
C |
A |
13: 92,927,349 (GRCm39) |
A47S |
probably benign |
Het |
| Trpm2 |
T |
C |
10: 77,746,086 (GRCm39) |
D1482G |
probably damaging |
Het |
| Tspyl4 |
C |
T |
10: 34,173,742 (GRCm39) |
A78V |
probably benign |
Het |
| Vmn2r26 |
A |
G |
6: 124,002,995 (GRCm39) |
N135S |
probably damaging |
Het |
| Vmn2r87 |
A |
T |
10: 130,313,335 (GRCm39) |
V477E |
probably damaging |
Het |
| Wdr89 |
T |
C |
12: 75,679,636 (GRCm39) |
D206G |
probably damaging |
Het |
| Zfp623 |
C |
A |
15: 75,819,402 (GRCm39) |
Y119* |
probably null |
Het |
| Zfp879 |
A |
G |
11: 50,724,213 (GRCm39) |
M281T |
probably damaging |
Het |
| Zfp952 |
T |
G |
17: 33,222,552 (GRCm39) |
F344V |
possibly damaging |
Het |
| Zgrf1 |
T |
C |
3: 127,379,854 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
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'- TATGGTGCTGCCCCTATTGG -3'
(R):5'- AGTTCAGACTCCACCTCGTC -3'
Sequencing Primer
(F):5'- GGATTCCCCGACCCCCAC -3'
(R):5'- GTCCGAGAAGAAGCTCCACG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation