Incidental Mutation 'R5585:Nfatc4'
| ID |
438676 |
| 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 |
043139-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5585 (G1)
|
| Quality Score |
143 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
56062252-56071400 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 56064212 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 163
(L163P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154682
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024179]
[ENSMUST00000172271]
[ENSMUST00000226357]
[ENSMUST00000226979]
|
| AlphaFold |
Q8K120 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000024179
AA Change: L233P
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000024179
Gene: ENSMUSG00000023411
AA Change: L233P
| 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: L233P
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000132763
Gene: ENSMUSG00000023411
AA Change: L233P
| 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: L163P
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226536
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226716
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226834
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226869
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227746
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226979
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228308
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600014C23Rik |
A |
T |
17: 46,044,670 (GRCm39) |
I17N |
unknown |
Het |
| 4932414N04Rik |
A |
G |
2: 68,571,770 (GRCm39) |
T549A |
probably benign |
Het |
| 9330159F19Rik |
C |
A |
10: 29,101,271 (GRCm39) |
S548Y |
possibly damaging |
Het |
| Aanat |
A |
G |
11: 116,487,799 (GRCm39) |
Y166C |
probably damaging |
Het |
| Adra2a |
G |
T |
19: 54,034,670 (GRCm39) |
A9S |
probably benign |
Het |
| Ap4m1 |
A |
G |
5: 138,170,502 (GRCm39) |
Y17C |
probably damaging |
Het |
| Arhgap33 |
T |
G |
7: 30,223,260 (GRCm39) |
M891L |
probably benign |
Het |
| Calm5 |
A |
G |
13: 3,904,372 (GRCm39) |
D22G |
possibly damaging |
Het |
| Ccdc15 |
C |
T |
9: 37,188,699 (GRCm39) |
R795H |
probably benign |
Het |
| Cngb1 |
T |
A |
8: 95,989,767 (GRCm39) |
I323F |
probably damaging |
Het |
| Cyp26b1 |
A |
G |
6: 84,554,171 (GRCm39) |
F74L |
probably damaging |
Het |
| Dpagt1 |
G |
A |
9: 44,240,439 (GRCm39) |
|
probably null |
Het |
| Ercc8 |
C |
T |
13: 108,312,123 (GRCm39) |
P196S |
probably damaging |
Het |
| Gm10985 |
A |
C |
3: 53,752,674 (GRCm39) |
Y19S |
probably damaging |
Het |
| Hfm1 |
G |
A |
5: 107,059,305 (GRCm39) |
S239L |
probably benign |
Het |
| Hgf |
A |
G |
5: 16,769,799 (GRCm39) |
D91G |
possibly damaging |
Het |
| Lefty2 |
T |
A |
1: 180,720,828 (GRCm39) |
V27D |
possibly damaging |
Het |
| Lrp2 |
G |
A |
2: 69,294,968 (GRCm39) |
T3450I |
possibly damaging |
Het |
| Lrrc38 |
A |
G |
4: 143,076,961 (GRCm39) |
I75V |
probably damaging |
Het |
| Ncor2 |
C |
A |
5: 125,144,975 (GRCm39) |
E556* |
probably null |
Het |
| Nedd9 |
A |
G |
13: 41,469,950 (GRCm39) |
L401P |
probably damaging |
Het |
| Nln |
T |
C |
13: 104,161,569 (GRCm39) |
N667S |
possibly damaging |
Het |
| Or5w20 |
A |
G |
2: 87,727,019 (GRCm39) |
T159A |
possibly damaging |
Het |
| Pnpla8 |
T |
C |
12: 44,329,847 (GRCm39) |
I133T |
probably benign |
Het |
| Psma1 |
C |
T |
7: 113,873,302 (GRCm39) |
G12S |
probably damaging |
Het |
| Psmd3 |
G |
A |
11: 98,573,707 (GRCm39) |
G51D |
possibly damaging |
Het |
| Ptprb |
A |
G |
10: 116,216,759 (GRCm39) |
Q1959R |
probably damaging |
Het |
| Rhbdf1 |
A |
G |
11: 32,160,222 (GRCm39) |
|
probably null |
Het |
| Rnf167 |
T |
C |
11: 70,540,308 (GRCm39) |
V110A |
probably damaging |
Het |
| Rrp9 |
C |
T |
9: 106,362,525 (GRCm39) |
S470F |
probably benign |
Het |
| Rtn3 |
G |
A |
19: 7,435,560 (GRCm39) |
P125L |
probably benign |
Het |
| Scube1 |
C |
T |
15: 83,561,124 (GRCm39) |
C156Y |
probably damaging |
Het |
| Tgm2 |
A |
T |
2: 157,973,375 (GRCm39) |
Y245* |
probably null |
Het |
| Timeless |
T |
C |
10: 128,076,112 (GRCm39) |
I68T |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,645,054 (GRCm39) |
S12934P |
probably damaging |
Het |
| Vwa5b2 |
T |
A |
16: 20,413,428 (GRCm39) |
Y214* |
probably null |
Het |
| Yars2 |
T |
A |
16: 16,122,484 (GRCm39) |
N7K |
probably damaging |
Het |
| Zfp142 |
G |
A |
1: 74,617,404 (GRCm39) |
Q150* |
probably null |
Het |
| Zfp995 |
C |
T |
17: 22,106,339 (GRCm39) |
|
probably benign |
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 |
|
|
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'- GAGATTACCCTCCACCAGAAGG -3'
(R):5'- TGCTTGCTCGCTAGAAGTCC -3'
Sequencing Primer
(F):5'- TCCACCAGAAGGCTTTGGG -3'
(R):5'- CTAGAAGTCCTCCGAGTTTTCTGAG -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation