Incidental Mutation 'R2370:Nfatc3'
| ID |
247497 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nfatc3
|
| Ensembl Gene |
ENSMUSG00000031902 |
| Gene Name |
nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 3 |
| Synonyms |
NFATx, D8Ertd281e, NFAT4 |
| MMRRC Submission |
040350-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2370 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
106785472-106857169 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 106835087 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 803
(Y803C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148551
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109308]
[ENSMUST00000211991]
[ENSMUST00000212742]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109308
AA Change: Y811C
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000104931
Gene: ENSMUSG00000031902
AA Change: Y811C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
153 |
182 |
N/A |
INTRINSIC |
|
low complexity region
|
205 |
225 |
N/A |
INTRINSIC |
|
low complexity region
|
257 |
271 |
N/A |
INTRINSIC |
|
low complexity region
|
286 |
305 |
N/A |
INTRINSIC |
|
Pfam:RHD_DNA_bind
|
434 |
593 |
4.9e-25 |
PFAM |
|
IPT
|
600 |
699 |
1.19e-20 |
SMART |
|
low complexity region
|
713 |
722 |
N/A |
INTRINSIC |
|
low complexity region
|
917 |
938 |
N/A |
INTRINSIC |
|
low complexity region
|
954 |
967 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211991
AA Change: Y803C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212742
AA Change: Y803C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 92.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a member of the nuclear factors of activated T cells 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 (TCR) stimulation and an inducible nuclear component. Other members of this family participate to form this complex also. The product of this gene plays a role in the regulation of gene expression in T cells and immature thymocytes. Several transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Nov 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene experience some embryonic lethality and reduced body size. Developmental defects also exist in the immune system , skeletal muscle, vasculature, heart, and sensory nerves. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Abca13 |
A |
G |
11: 9,206,185 (GRCm39) |
T162A |
possibly damaging |
Het |
| Adamts9 |
T |
A |
6: 92,837,184 (GRCm39) |
D578V |
probably damaging |
Het |
| Atp6v1a |
T |
C |
16: 43,927,403 (GRCm39) |
T295A |
probably benign |
Het |
| Brinp1 |
A |
G |
4: 68,681,184 (GRCm39) |
S449P |
probably damaging |
Het |
| Ccdc40 |
A |
G |
11: 119,153,943 (GRCm39) |
T1072A |
probably benign |
Het |
| Chil4 |
C |
A |
3: 106,121,616 (GRCm39) |
E78* |
probably null |
Het |
| Cul7 |
A |
G |
17: 46,972,567 (GRCm39) |
Y1250C |
probably damaging |
Het |
| Dock3 |
T |
C |
9: 106,829,554 (GRCm39) |
D1120G |
probably damaging |
Het |
| Gfod1 |
A |
G |
13: 43,354,621 (GRCm39) |
M118T |
probably benign |
Het |
| Ints5 |
A |
G |
19: 8,874,143 (GRCm39) |
T701A |
probably benign |
Het |
| Map4k2 |
G |
T |
19: 6,391,958 (GRCm39) |
E91* |
probably null |
Het |
| Mast4 |
T |
A |
13: 102,910,695 (GRCm39) |
E457D |
probably damaging |
Het |
| Mettl4 |
T |
C |
17: 95,040,576 (GRCm39) |
D404G |
probably damaging |
Het |
| Mgat4a |
A |
G |
1: 37,503,614 (GRCm39) |
F58L |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,146,454 (GRCm39) |
K1476E |
probably damaging |
Het |
| Myl7 |
T |
C |
11: 5,846,684 (GRCm39) |
E175G |
probably damaging |
Het |
| Myo18a |
A |
G |
11: 77,668,596 (GRCm39) |
E152G |
probably benign |
Het |
| Ncan |
G |
A |
8: 70,565,463 (GRCm39) |
T187I |
probably benign |
Het |
| Nlrp4f |
T |
C |
13: 65,338,660 (GRCm39) |
Y659C |
probably damaging |
Het |
| Noxred1 |
T |
C |
12: 87,273,820 (GRCm39) |
T74A |
probably benign |
Het |
| Ntrk2 |
A |
T |
13: 59,202,248 (GRCm39) |
M619L |
probably benign |
Het |
| Or5w18 |
A |
T |
2: 87,633,159 (GRCm39) |
N142I |
probably benign |
Het |
| Orc4 |
A |
G |
2: 48,823,111 (GRCm39) |
V120A |
probably benign |
Het |
| Polq |
T |
A |
16: 36,894,301 (GRCm39) |
Y2037N |
probably damaging |
Het |
| Rimbp2 |
A |
G |
5: 128,880,908 (GRCm39) |
C160R |
probably damaging |
Het |
| Rps6ka4 |
T |
C |
19: 6,807,468 (GRCm39) |
S721G |
possibly damaging |
Het |
| Skap2 |
C |
T |
6: 51,898,310 (GRCm39) |
R140Q |
probably damaging |
Het |
| Srprb |
C |
T |
9: 103,074,755 (GRCm39) |
R838H |
probably damaging |
Het |
|
| Other mutations in Nfatc3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00885:Nfatc3
|
APN |
8 |
106,825,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01755:Nfatc3
|
APN |
8 |
106,854,553 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL02314:Nfatc3
|
APN |
8 |
106,805,532 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL02724:Nfatc3
|
APN |
8 |
106,834,817 (GRCm39) |
missense |
probably benign |
0.29 |
|
Kampf
|
UTSW |
8 |
106,825,782 (GRCm39) |
missense |
probably benign |
0.23 |
|
Struggles
|
UTSW |
8 |
106,810,502 (GRCm39) |
nonsense |
probably null |
|
|
PIT1430001:Nfatc3
|
UTSW |
8 |
106,786,605 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
PIT4515001:Nfatc3
|
UTSW |
8 |
106,805,835 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0088:Nfatc3
|
UTSW |
8 |
106,854,574 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0348:Nfatc3
|
UTSW |
8 |
106,818,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0410:Nfatc3
|
UTSW |
8 |
106,822,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1509:Nfatc3
|
UTSW |
8 |
106,810,486 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1702:Nfatc3
|
UTSW |
8 |
106,818,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1735:Nfatc3
|
UTSW |
8 |
106,810,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1736:Nfatc3
|
UTSW |
8 |
106,805,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1758:Nfatc3
|
UTSW |
8 |
106,825,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2878:Nfatc3
|
UTSW |
8 |
106,818,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3802:Nfatc3
|
UTSW |
8 |
106,806,277 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3959:Nfatc3
|
UTSW |
8 |
106,825,709 (GRCm39) |
nonsense |
probably null |
|
|
R4006:Nfatc3
|
UTSW |
8 |
106,835,471 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4079:Nfatc3
|
UTSW |
8 |
106,806,123 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4589:Nfatc3
|
UTSW |
8 |
106,805,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4818:Nfatc3
|
UTSW |
8 |
106,835,011 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4907:Nfatc3
|
UTSW |
8 |
106,806,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5042:Nfatc3
|
UTSW |
8 |
106,834,757 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5632:Nfatc3
|
UTSW |
8 |
106,805,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5741:Nfatc3
|
UTSW |
8 |
106,805,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5885:Nfatc3
|
UTSW |
8 |
106,822,944 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6439:Nfatc3
|
UTSW |
8 |
106,810,502 (GRCm39) |
nonsense |
probably null |
|
|
R6557:Nfatc3
|
UTSW |
8 |
106,845,986 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6737:Nfatc3
|
UTSW |
8 |
106,810,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6925:Nfatc3
|
UTSW |
8 |
106,845,954 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7260:Nfatc3
|
UTSW |
8 |
106,835,578 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7429:Nfatc3
|
UTSW |
8 |
106,835,035 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7430:Nfatc3
|
UTSW |
8 |
106,835,035 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7526:Nfatc3
|
UTSW |
8 |
106,805,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7760:Nfatc3
|
UTSW |
8 |
106,834,973 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8783:Nfatc3
|
UTSW |
8 |
106,825,784 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8867:Nfatc3
|
UTSW |
8 |
106,805,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8978:Nfatc3
|
UTSW |
8 |
106,835,402 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9021:Nfatc3
|
UTSW |
8 |
106,818,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9066:Nfatc3
|
UTSW |
8 |
106,825,782 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9538:Nfatc3
|
UTSW |
8 |
106,834,784 (GRCm39) |
missense |
probably benign |
0.35 |
|
R9656:Nfatc3
|
UTSW |
8 |
106,830,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0063:Nfatc3
|
UTSW |
8 |
106,810,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0064:Nfatc3
|
UTSW |
8 |
106,834,981 (GRCm39) |
missense |
probably benign |
0.04 |
|
Z1177:Nfatc3
|
UTSW |
8 |
106,818,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTTGTCAAGTGCAGCCAG -3'
(R):5'- CATTGACTGCAGATGAGGTGG -3'
Sequencing Primer
(F):5'- GCAGCCAGCATATACATCTATGGTAG -3'
(R):5'- TTTGCACAGAATGAGGTGAATGTGC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation