Incidental Mutation 'R5632:Nfatc3'
ID |
439926 |
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 |
043283-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5632 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
106785472-106857169 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 106805689 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 178
(L178P)
|
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: L186P
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000104931 Gene: ENSMUSG00000031902 AA Change: L186P
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: L178P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212577
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000212742
AA Change: L178P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212936
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcd4 |
T |
C |
12: 84,664,076 (GRCm39) |
T7A |
probably benign |
Het |
Adam33 |
T |
G |
2: 130,895,362 (GRCm39) |
D619A |
probably damaging |
Het |
Ajm1 |
T |
C |
2: 25,469,276 (GRCm39) |
T212A |
probably benign |
Het |
Aldh3b3 |
C |
T |
19: 4,018,522 (GRCm39) |
|
probably benign |
Het |
Arhgef15 |
G |
A |
11: 68,844,877 (GRCm39) |
P240L |
probably benign |
Het |
Arhgef40 |
C |
A |
14: 52,231,795 (GRCm39) |
T727K |
probably damaging |
Het |
Arrdc1 |
T |
C |
2: 24,817,840 (GRCm39) |
T43A |
probably benign |
Het |
Bcl2l15 |
A |
G |
3: 103,743,378 (GRCm39) |
N93S |
probably benign |
Het |
Cd5l |
G |
T |
3: 87,273,414 (GRCm39) |
E128* |
probably null |
Het |
Cep97 |
T |
C |
16: 55,735,946 (GRCm39) |
D284G |
probably benign |
Het |
Ckmt1 |
T |
A |
2: 121,191,073 (GRCm39) |
S162T |
probably damaging |
Het |
Clock |
G |
A |
5: 76,378,185 (GRCm39) |
P572S |
probably benign |
Het |
Cpeb4 |
A |
G |
11: 31,839,877 (GRCm39) |
D53G |
probably damaging |
Het |
Crocc2 |
T |
A |
1: 93,145,575 (GRCm39) |
S1485R |
probably damaging |
Het |
Dcaf5 |
G |
A |
12: 80,444,526 (GRCm39) |
A189V |
probably damaging |
Het |
Duox2 |
C |
T |
2: 122,111,936 (GRCm39) |
G1355S |
probably damaging |
Het |
Fam120b |
C |
T |
17: 15,623,344 (GRCm39) |
P441S |
probably benign |
Het |
Fbxo41 |
A |
G |
6: 85,461,486 (GRCm39) |
L74P |
probably damaging |
Het |
H2-DMa |
A |
G |
17: 34,356,975 (GRCm39) |
T158A |
probably benign |
Het |
Hcar2 |
T |
A |
5: 124,002,532 (GRCm39) |
T324S |
probably benign |
Het |
Hif3a |
T |
C |
7: 16,784,580 (GRCm39) |
I222V |
possibly damaging |
Het |
Ighv1-7 |
A |
G |
12: 114,502,501 (GRCm39) |
|
probably benign |
Het |
Il20 |
T |
C |
1: 130,835,165 (GRCm39) |
E151G |
probably benign |
Het |
Jarid2 |
A |
G |
13: 45,049,766 (GRCm39) |
E236G |
probably damaging |
Het |
Knl1 |
T |
C |
2: 118,900,833 (GRCm39) |
S845P |
probably damaging |
Het |
Lamc2 |
T |
C |
1: 153,007,636 (GRCm39) |
Y846C |
probably damaging |
Het |
Lrp5 |
A |
G |
19: 3,672,512 (GRCm39) |
V599A |
probably benign |
Het |
Lrrc8b |
T |
A |
5: 105,628,163 (GRCm39) |
S170T |
possibly damaging |
Het |
Mex3d |
T |
C |
10: 80,218,428 (GRCm39) |
K263R |
probably damaging |
Het |
Mtor |
A |
G |
4: 148,553,463 (GRCm39) |
K784E |
possibly damaging |
Het |
Naip5 |
C |
A |
13: 100,367,170 (GRCm39) |
|
probably null |
Het |
Ncor1 |
T |
C |
11: 62,229,060 (GRCm39) |
T609A |
possibly damaging |
Het |
Ndufs1 |
C |
T |
1: 63,189,218 (GRCm39) |
A536T |
probably benign |
Het |
Neto1 |
A |
G |
18: 86,516,768 (GRCm39) |
I362V |
probably benign |
Het |
Npdc1 |
G |
A |
2: 25,298,957 (GRCm39) |
D284N |
probably damaging |
Het |
Nsd3 |
C |
T |
8: 26,169,985 (GRCm39) |
T707M |
probably benign |
Het |
Or51f2 |
A |
C |
7: 102,527,004 (GRCm39) |
S226R |
probably benign |
Het |
Or5w1b |
A |
T |
2: 87,475,573 (GRCm39) |
V298E |
probably damaging |
Het |
Or9g19 |
T |
C |
2: 85,600,613 (GRCm39) |
V156A |
probably benign |
Het |
Pcnx1 |
T |
A |
12: 81,964,504 (GRCm39) |
S224T |
probably damaging |
Het |
Peak1 |
T |
C |
9: 56,165,058 (GRCm39) |
T957A |
probably damaging |
Het |
Pex7 |
A |
T |
10: 19,764,483 (GRCm39) |
D153E |
probably damaging |
Het |
Plscr1 |
A |
G |
9: 92,148,477 (GRCm39) |
E139G |
probably damaging |
Het |
Psmb8 |
T |
C |
17: 34,420,214 (GRCm39) |
Y269H |
probably benign |
Het |
Rmc1 |
T |
C |
18: 12,304,640 (GRCm39) |
F72L |
possibly damaging |
Het |
Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
Sft2d2 |
T |
C |
1: 165,012,657 (GRCm39) |
T80A |
probably damaging |
Het |
Slc12a5 |
A |
G |
2: 164,829,141 (GRCm39) |
I583M |
possibly damaging |
Het |
Slc23a4 |
T |
C |
6: 34,933,957 (GRCm39) |
M49V |
probably benign |
Het |
Smarcb1 |
G |
A |
10: 75,740,252 (GRCm39) |
Q309* |
probably null |
Het |
Sphkap |
A |
T |
1: 83,256,006 (GRCm39) |
V294E |
probably benign |
Het |
Stoml1 |
C |
A |
9: 58,160,653 (GRCm39) |
P35Q |
probably damaging |
Het |
Timm10b |
G |
C |
7: 105,290,329 (GRCm39) |
R42P |
probably damaging |
Het |
Tnfrsf8 |
A |
T |
4: 145,019,203 (GRCm39) |
S211T |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,536,164 (GRCm39) |
T26738A |
probably damaging |
Het |
Vps13d |
A |
T |
4: 144,801,452 (GRCm39) |
Y474N |
probably damaging |
Het |
Wdr81 |
A |
T |
11: 75,336,732 (GRCm39) |
F1552L |
probably damaging |
Het |
Wee1 |
TCCCC |
TCCC |
7: 109,723,776 (GRCm39) |
|
probably null |
Het |
Wnt7a |
A |
C |
6: 91,371,637 (GRCm39) |
Y108* |
probably null |
Het |
Zfp512b |
C |
T |
2: 181,227,461 (GRCm39) |
R56K |
probably benign |
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 |
R2370:Nfatc3
|
UTSW |
8 |
106,835,087 (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 |
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'- GTGCCCAAGTATTCAAATCACATC -3'
(R):5'- CAAGGAGATTGCCTAGGTGAC -3'
Sequencing Primer
(F):5'- CTGTCATCAAGGAACAGATGCTCATG -3'
(R):5'- CAAGGAGTGTCCAGATCCATACTG -3'
|
Posted On |
2016-11-08 |