Incidental Mutation 'R0743:Nfatc4'
| ID |
70801 |
| 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 |
038924-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0743 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
56062252-56071400 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 56064101 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 126
(D126A)
|
| 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: D196A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000024179
Gene: ENSMUSG00000023411
AA Change: D196A
| 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: D196A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000132763
Gene: ENSMUSG00000023411
AA Change: D196A
| 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: D126A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226536
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226716
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226834
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227746
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226979
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226869
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228308
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.7%
- 20x: 92.7%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
A |
T |
14: 118,790,700 (GRCm39) |
I844N |
possibly damaging |
Het |
| Bend7 |
A |
T |
2: 4,749,055 (GRCm39) |
K57N |
probably damaging |
Het |
| Cacna2d4 |
C |
T |
6: 119,284,247 (GRCm39) |
R745W |
probably damaging |
Het |
| Cfap91 |
A |
G |
16: 38,155,996 (GRCm39) |
F76L |
probably damaging |
Het |
| Csmd2 |
A |
T |
4: 128,007,469 (GRCm39) |
T149S |
probably benign |
Het |
| Cyp2a12 |
T |
C |
7: 26,731,967 (GRCm39) |
I236T |
probably benign |
Het |
| Dennd2b |
A |
G |
7: 109,156,552 (GRCm39) |
L66P |
probably damaging |
Het |
| Dnase1l2 |
A |
G |
17: 24,660,854 (GRCm39) |
V170A |
possibly damaging |
Het |
| Dnm2 |
T |
A |
9: 21,411,561 (GRCm39) |
Y597N |
probably damaging |
Het |
| Epsti1 |
A |
T |
14: 78,168,715 (GRCm39) |
R117S |
probably damaging |
Het |
| Gabarapl2 |
A |
T |
8: 112,669,137 (GRCm39) |
I32F |
probably damaging |
Het |
| Glrb |
T |
A |
3: 80,786,987 (GRCm39) |
I59F |
probably damaging |
Het |
| Gosr1 |
A |
G |
11: 76,620,972 (GRCm39) |
I239T |
probably benign |
Het |
| Kif5b |
G |
T |
18: 6,209,192 (GRCm39) |
R857S |
probably damaging |
Het |
| Kmt5a |
C |
A |
5: 124,585,282 (GRCm39) |
N44K |
probably damaging |
Het |
| Ksr1 |
A |
T |
11: 78,912,329 (GRCm39) |
H675Q |
possibly damaging |
Het |
| Mep1b |
A |
G |
18: 21,213,515 (GRCm39) |
D68G |
possibly damaging |
Het |
| Nebl |
A |
C |
2: 17,415,929 (GRCm39) |
S327A |
probably benign |
Het |
| Nfat5 |
G |
A |
8: 108,094,698 (GRCm39) |
E962K |
probably damaging |
Het |
| Nmt2 |
A |
T |
2: 3,315,822 (GRCm39) |
R271* |
probably null |
Het |
| Nol7 |
G |
A |
13: 43,554,091 (GRCm39) |
V133I |
probably benign |
Het |
| Npepps |
A |
G |
11: 97,096,884 (GRCm39) |
|
probably benign |
Het |
| Nphp3 |
GCATCATCATCATCATC |
GCATCATCATCATC |
9: 103,899,967 (GRCm39) |
|
probably benign |
Het |
| Or1e1c |
A |
T |
11: 73,265,715 (GRCm39) |
I47F |
probably benign |
Het |
| Or51ag1 |
C |
T |
7: 103,156,069 (GRCm39) |
W28* |
probably null |
Het |
| Or6c66 |
T |
A |
10: 129,461,712 (GRCm39) |
T73S |
probably benign |
Het |
| Or8h10 |
G |
A |
2: 86,808,843 (GRCm39) |
T99I |
probably benign |
Het |
| Ovgp1 |
T |
A |
3: 105,882,248 (GRCm39) |
L37H |
probably damaging |
Het |
| Padi3 |
G |
T |
4: 140,513,740 (GRCm39) |
A646D |
probably benign |
Het |
| Pamr1 |
A |
G |
2: 102,440,252 (GRCm39) |
E142G |
probably damaging |
Het |
| Papolg |
A |
T |
11: 23,820,818 (GRCm39) |
|
probably null |
Het |
| Pate8 |
T |
C |
9: 36,492,597 (GRCm39) |
S103G |
probably benign |
Het |
| Pfkl |
C |
T |
10: 77,831,077 (GRCm39) |
|
probably null |
Het |
| Plrg1 |
T |
C |
3: 82,967,224 (GRCm39) |
S132P |
probably benign |
Het |
| Pramel23 |
A |
T |
4: 143,425,134 (GRCm39) |
I103N |
probably damaging |
Het |
| Prr14l |
C |
A |
5: 32,988,538 (GRCm39) |
C319F |
possibly damaging |
Het |
| Prtn3 |
T |
A |
10: 79,715,511 (GRCm39) |
M1K |
probably null |
Het |
| Ptpn22 |
T |
C |
3: 103,809,487 (GRCm39) |
F700S |
probably damaging |
Het |
| Ptprz1 |
C |
T |
6: 23,044,366 (GRCm39) |
Q1273* |
probably null |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,569,415 (GRCm39) |
D4963G |
probably damaging |
Het |
| Sec16a |
G |
A |
2: 26,309,734 (GRCm39) |
L2091F |
possibly damaging |
Het |
| Senp6 |
C |
T |
9: 80,000,871 (GRCm39) |
R27C |
probably damaging |
Het |
| Shcbp1 |
T |
A |
8: 4,814,906 (GRCm39) |
M191L |
probably benign |
Het |
| Sirt4 |
T |
C |
5: 115,621,014 (GRCm39) |
K53E |
probably benign |
Het |
| Slc10a2 |
A |
G |
8: 5,139,132 (GRCm39) |
S271P |
probably damaging |
Het |
| Slc35b2 |
T |
A |
17: 45,877,751 (GRCm39) |
F293I |
probably damaging |
Het |
| Slc38a10 |
C |
T |
11: 120,031,469 (GRCm39) |
V103M |
probably damaging |
Het |
| Stab2 |
T |
A |
10: 86,723,759 (GRCm39) |
I1479F |
probably damaging |
Het |
| Synpo2 |
A |
G |
3: 122,906,355 (GRCm39) |
V987A |
probably benign |
Het |
| Syt9 |
A |
G |
7: 107,035,768 (GRCm39) |
I262V |
probably damaging |
Het |
| Taf2 |
GCTTCTTCTTCTTCTTCTT |
GCTTCTTCTTCTTCTT |
15: 54,879,857 (GRCm39) |
|
probably benign |
Het |
| Tmem39a |
A |
T |
16: 38,405,764 (GRCm39) |
I200F |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,579,613 (GRCm39) |
T23760M |
probably damaging |
Het |
| Uqcrc1 |
C |
T |
9: 108,773,773 (GRCm39) |
Q22* |
probably null |
Het |
| Wdtc1 |
A |
G |
4: 133,027,972 (GRCm39) |
W377R |
probably damaging |
Het |
| Zfp454 |
A |
G |
11: 50,764,764 (GRCm39) |
S223P |
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 |
|
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 |
|
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'- CTCGCTAGAGGACACATCTG -3'
(R):5'- TTGGTGGAGCACCCACATAG -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation