Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01755:Nfatc3'

153186

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nfatc3

Ensembl Gene

ENSMUSG00000031902

Gene Name

nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 3

Synonyms

NFATx, NFAT4, D8Ertd281e

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01755

Quality Score

Status

Chromosome

Chromosomal Location

106058840-106130537 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106127921 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 1029 (N1029S)

Ref Sequence

ENSEMBL: ENSMUSP00000148551 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109308] [ENSMUST00000115979] [ENSMUST00000146940] [ENSMUST00000211991] [ENSMUST00000212742]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000109308
AA Change: N1037S

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000104931
Gene: ENSMUSG00000031902
AA Change: N1037S

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 benign
Transcript: ENSMUST00000115979

SMART Domains

Protein: ENSMUSP00000111639
Gene: ENSMUSG00000084128

Domain	Start	End	E-Value	Type
low complexity region	3	15	N/A	INTRINSIC
RRM	248	320	2.58e-1	SMART
RRM	349	424	2.67e-2	SMART
low complexity region	439	459	N/A	INTRINSIC
RRM	466	541	4.17e-3	SMART
low complexity region	549	575	N/A	INTRINSIC
low complexity region	593	614	N/A	INTRINSIC
low complexity region	644	660	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131020

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142050

Predicted Effect

probably benign
Transcript: ENSMUST00000146940

SMART Domains

Protein: ENSMUSP00000123114
Gene: ENSMUSG00000084128

Domain	Start	End	E-Value	Type
low complexity region	3	15	N/A	INTRINSIC
RRM	247	319	2.58e-1	SMART
RRM	348	423	2.67e-2	SMART
low complexity region	438	458	N/A	INTRINSIC
RRM	465	540	4.17e-3	SMART
low complexity region	548	574	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000211991

Predicted Effect

probably benign
Transcript: ENSMUST00000212742
AA Change: N1029S

PolyPhen 2 Score 0.420 (Sensitivity: 0.89; Specificity: 0.90)

Coding Region Coverage

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921501E09Rik	T	A	17: 33,066,977	N284Y	probably damaging	Het
Atf6	A	G	1: 170,788,611	I520T	possibly damaging	Het
Azgp1	A	T	5: 137,989,847	K297M	possibly damaging	Het
Cyp2e1	A	G	7: 140,774,556		probably null	Het
Dapk1	T	A	13: 60,761,176	L1201Q	possibly damaging	Het
Dapk1	C	A	13: 60,761,175	L1201M	probably damaging	Het
Insrr	A	T	3: 87,814,186	D1133V	probably damaging	Het
Kcnc4	T	C	3: 107,448,175	N319S	probably damaging	Het
Kctd1	A	G	18: 15,062,637	C310R	possibly damaging	Het
Nefl	A	G	14: 68,086,077	D384G	probably damaging	Het
Nup107	T	C	10: 117,774,493	Y348C	probably damaging	Het
Olfr1151	T	A	2: 87,857,510	C112S	possibly damaging	Het
Olfr1472	T	C	19: 13,453,815	K234R	probably damaging	Het
Phldb2	T	C	16: 45,825,582	E212G	probably damaging	Het
Pirb	A	T	7: 3,717,170	N401K	probably benign	Het
Plcg2	T	C	8: 117,621,241	F1183S	possibly damaging	Het
Plekhf2	A	T	4: 10,991,308	N11K	probably damaging	Het
Slc7a11	A	G	3: 50,424,067	Y241H	probably benign	Het
Sltm	T	G	9: 70,583,922		probably null	Het
Taf4b	A	G	18: 14,897,985	T809A	probably benign	Het
Taf4b	C	A	18: 14,897,986	T809N	probably benign	Het
Tesk1	T	C	4: 43,445,820		probably null	Het
Tspan8	C	T	10: 115,835,298	T120M	probably damaging	Het
Ttn	T	G	2: 76,721,383	D31275A	probably damaging	Het
Vcl	C	A	14: 20,995,970	Q334K	probably damaging	Het
Zfp94	G	A	7: 24,311,481		probably benign	Het
Zkscan17	A	G	11: 59,487,415	F314S	probably damaging	Het

Other mutations in Nfatc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00885:Nfatc3	APN	8	106099177	missense	probably damaging	1.00
IGL02314:Nfatc3	APN	8	106078900	missense	probably benign	0.21
IGL02724:Nfatc3	APN	8	106108185	missense	probably benign	0.29
Kampf	UTSW	8	106099150	missense	probably benign	0.23
Struggles	UTSW	8	106083870	nonsense	probably null
PIT1430001:Nfatc3	UTSW	8	106059973	missense	possibly damaging	0.78
PIT4515001:Nfatc3	UTSW	8	106079203	missense	possibly damaging	0.94
R0088:Nfatc3	UTSW	8	106127942	missense	possibly damaging	0.90
R0348:Nfatc3	UTSW	8	106092195	missense	probably damaging	1.00
R0410:Nfatc3	UTSW	8	106096196	missense	probably damaging	1.00
R1509:Nfatc3	UTSW	8	106083854	missense	possibly damaging	0.46
R1702:Nfatc3	UTSW	8	106092160	missense	probably damaging	1.00
R1735:Nfatc3	UTSW	8	106083834	missense	probably damaging	1.00
R1736:Nfatc3	UTSW	8	106078850	missense	probably damaging	1.00
R1758:Nfatc3	UTSW	8	106099136	missense	probably damaging	1.00
R2370:Nfatc3	UTSW	8	106108455	missense	probably damaging	1.00
R2878:Nfatc3	UTSW	8	106092144	missense	probably damaging	1.00
R3802:Nfatc3	UTSW	8	106079645	missense	probably damaging	0.99
R3959:Nfatc3	UTSW	8	106099077	nonsense	probably null
R4006:Nfatc3	UTSW	8	106108839	missense	probably benign	0.00
R4079:Nfatc3	UTSW	8	106079491	missense	probably damaging	0.98
R4589:Nfatc3	UTSW	8	106079073	missense	probably damaging	1.00
R4818:Nfatc3	UTSW	8	106108379	missense	probably benign	0.00
R4907:Nfatc3	UTSW	8	106079727	missense	probably damaging	1.00
R5042:Nfatc3	UTSW	8	106108125	missense	probably benign	0.25
R5632:Nfatc3	UTSW	8	106079057	missense	probably damaging	1.00
R5741:Nfatc3	UTSW	8	106079066	missense	probably damaging	1.00
R5885:Nfatc3	UTSW	8	106096312	missense	probably benign	0.00
R6439:Nfatc3	UTSW	8	106083870	nonsense	probably null
R6557:Nfatc3	UTSW	8	106119354	missense	probably benign	0.01
R6737:Nfatc3	UTSW	8	106083969	missense	probably damaging	1.00
R6925:Nfatc3	UTSW	8	106119322	missense	probably benign	0.00
R7260:Nfatc3	UTSW	8	106108946	missense	probably benign	0.00
R7429:Nfatc3	UTSW	8	106108403	missense	probably benign	0.00
R7430:Nfatc3	UTSW	8	106108403	missense	probably benign	0.00
R7526:Nfatc3	UTSW	8	106079083	missense	probably damaging	1.00
R7760:Nfatc3	UTSW	8	106108341	missense	possibly damaging	0.66
R8783:Nfatc3	UTSW	8	106099152	missense	possibly damaging	0.63
R8867:Nfatc3	UTSW	8	106079008	missense	probably damaging	1.00
R8978:Nfatc3	UTSW	8	106108770	missense	probably benign	0.03
R9021:Nfatc3	UTSW	8	106092113	missense	probably damaging	1.00
R9066:Nfatc3	UTSW	8	106099150	missense	probably benign	0.23
X0063:Nfatc3	UTSW	8	106083939	missense	probably damaging	1.00
X0064:Nfatc3	UTSW	8	106108349	missense	probably benign	0.04
Z1177:Nfatc3	UTSW	8	106092066	missense	probably damaging	1.00

Posted On

2014-02-04