Mutagenetix > Incidental Mutation

Incidental Mutation 'R2157:Nfatc1'

234956

Institutional Source

Beutler Lab

Gene Symbol

Nfatc1

Ensembl Gene

ENSMUSG00000033016

Gene Name

nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 1

Synonyms

2210017P03Rik, NF-ATc, NFATc, NFAT2

MMRRC Submission

040160-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2157 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80649420-80756286 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 80679060 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 762 (A762D)

Ref Sequence

ENSEMBL: ENSMUSP00000126884 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078049] [ENSMUST00000167977] [ENSMUST00000170905]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078049
AA Change: A776D

PolyPhen 2 Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000077196
Gene: ENSMUSG00000033016
AA Change: A776D

Domain	Start	End	E-Value	Type
low complexity region	170	202	N/A	INTRINSIC
low complexity region	277	293	N/A	INTRINSIC
Pfam:RHD	429	589	1.3e-27	PFAM
IPT	596	695	8.99e-21	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167977
AA Change: A762D

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126884
Gene: ENSMUSG00000033016
AA Change: A762D

Domain	Start	End	E-Value	Type
low complexity region	4	20	N/A	INTRINSIC
low complexity region	156	188	N/A	INTRINSIC
low complexity region	263	279	N/A	INTRINSIC
Pfam:RHD	415	575	4.9e-28	PFAM
IPT	582	681	8.99e-21	SMART
low complexity region	832	841	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170905
AA Change: A776D

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000129001
Gene: ENSMUSG00000033016
AA Change: A776D

Domain	Start	End	E-Value	Type
low complexity region	170	202	N/A	INTRINSIC
low complexity region	277	293	N/A	INTRINSIC
Pfam:RHD_DNA_bind	429	589	5.1e-28	PFAM
IPT	596	695	8.99e-21	SMART
low complexity region	846	855	N/A	INTRINSIC

Meta Mutation Damage Score

0.1239

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (80/80)

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 component of the nuclear factor 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. Proteins belonging to this family of transcription factors play a central role in inducible gene transcription during immune response. The product of this gene is an inducible nuclear component. It functions as a major molecular target for the immunosuppressive drugs such as cyclosporin A. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. Different isoforms of this protein may regulate inducible expression of different cytokine genes. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous mutation of this gene results in lethality throughout fetal growth and development due to cardiac failure. Mutants exhibit blood circulation, cardiac valve and ventricular septal abnormalities, edema, abdominal hemorrhage, and semilunar valveregurgitation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	A	T	8: 125,378,168 (GRCm39)		probably benign	Het
4930590J08Rik	T	A	6: 91,919,468 (GRCm39)	M709K	possibly damaging	Het
4930590J08Rik	A	G	6: 91,894,679 (GRCm39)		probably null	Het
A930011G23Rik	T	G	5: 99,379,956 (GRCm39)	I394L	probably damaging	Het
Abca13	A	C	11: 9,527,170 (GRCm39)	M4528L	probably damaging	Het
Abcb1b	G	A	5: 8,874,791 (GRCm39)	A484T	probably benign	Het
Actn1	A	T	12: 80,219,891 (GRCm39)	M660K	probably benign	Het
Adgra3	G	T	5: 50,159,283 (GRCm39)	N322K	possibly damaging	Het
Ahnak	A	G	19: 8,978,048 (GRCm39)	I56V	possibly damaging	Het
Amotl2	A	G	9: 102,607,788 (GRCm39)		probably benign	Het
Apoa1	T	C	9: 46,140,471 (GRCm39)	V34A	probably damaging	Het
Arrdc1	G	A	2: 24,816,987 (GRCm39)	A113V	probably damaging	Het
As3mt	A	G	19: 46,696,231 (GRCm39)	D13G	probably benign	Het
Cald1	A	G	6: 34,662,976 (GRCm39)	Q13R	possibly damaging	Het
Ccdc28a	G	A	10: 18,106,203 (GRCm39)	T41I	probably benign	Het
Ccdc30	A	T	4: 119,190,921 (GRCm39)		probably benign	Het
Cct2	T	C	10: 116,898,714 (GRCm39)		probably benign	Het
Cdh12	T	C	15: 21,583,873 (GRCm39)	I571T	possibly damaging	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Ckm	T	C	7: 19,155,279 (GRCm39)	S372P	probably benign	Het
Comp	C	T	8: 70,832,220 (GRCm39)	Q554*	probably null	Het
Csf2ra	T	C	19: 61,215,509 (GRCm39)	T70A	probably benign	Het
Csmd3	T	C	15: 47,559,183 (GRCm39)	E2256G	probably damaging	Het
Dicer1	A	T	12: 104,669,208 (GRCm39)	V1158D	probably benign	Het
Dner	A	G	1: 84,361,659 (GRCm39)	F650S	possibly damaging	Het
Dnm3	T	C	1: 162,135,462 (GRCm39)	N437S	possibly damaging	Het
Dpy19l2	T	C	9: 24,592,076 (GRCm39)	I176V	probably benign	Het
Dpy19l2	A	T	9: 24,495,928 (GRCm39)	C597S	probably benign	Het
Edf1	T	C	2: 25,448,043 (GRCm39)		probably null	Het
Eif1ad16	A	T	12: 87,985,481 (GRCm39)	S21T	unknown	Het
Enpp3	A	G	10: 24,652,776 (GRCm39)	F727S	probably damaging	Het
Epb42	C	T	2: 120,852,243 (GRCm39)	M583I	probably benign	Het
Foxred1	A	G	9: 35,116,659 (GRCm39)	F117S	probably damaging	Het
Fstl5	T	A	3: 76,615,372 (GRCm39)	M811K	possibly damaging	Het
Gm5117	A	T	8: 32,228,222 (GRCm39)		noncoding transcript	Het
Gpm6a	T	C	8: 55,511,833 (GRCm39)	S236P	probably damaging	Het
Grik1	G	A	16: 87,853,012 (GRCm39)	A57V	probably damaging	Het
Hdgfl2	G	A	17: 56,405,691 (GRCm39)	V476I	possibly damaging	Het
Il17b	G	T	18: 61,823,439 (GRCm39)	W91L	probably damaging	Het
Jph4	C	A	14: 55,350,984 (GRCm39)	R344L	probably benign	Het
Map3k21	A	G	8: 126,664,005 (GRCm39)	D522G	probably benign	Het
Mast2	A	G	4: 116,179,480 (GRCm39)	L398S	probably damaging	Het
Mbtd1	A	G	11: 93,801,214 (GRCm39)	T132A	probably benign	Het
Mbtps1	G	T	8: 120,269,466 (GRCm39)	T208K	probably benign	Het
Mr1	A	G	1: 155,022,376 (GRCm39)		probably null	Het
Mthfsd	G	A	8: 121,828,240 (GRCm39)	L140F	probably damaging	Het
Mybpc2	C	G	7: 44,159,269 (GRCm39)	D594H	possibly damaging	Het
Nalcn	T	C	14: 123,647,164 (GRCm39)	M570V	probably benign	Het
Ncam2	T	C	16: 81,287,277 (GRCm39)	I397T	probably damaging	Het
Ndufs4	C	T	13: 114,453,514 (GRCm39)	V75I	probably damaging	Het
Nek4	T	A	14: 30,701,925 (GRCm39)		probably null	Het
Nhsl3	C	T	4: 129,117,917 (GRCm39)	R249H	possibly damaging	Het
Npc1	A	G	18: 12,324,866 (GRCm39)	I1209T	probably damaging	Het
Or10k2	T	C	8: 84,268,250 (GRCm39)	I159T	probably benign	Het
Or4c11	A	T	2: 88,695,213 (GRCm39)	N88I	probably benign	Het
Pak5	T	C	2: 135,942,877 (GRCm39)	D421G	probably damaging	Het
Pias1	A	G	9: 62,820,112 (GRCm39)	V285A	possibly damaging	Het
Pigg	T	A	5: 108,466,755 (GRCm39)	I212N	probably damaging	Het
Plcd3	A	T	11: 102,961,974 (GRCm39)	C711S	probably benign	Het
Plscr5	G	A	9: 92,080,550 (GRCm39)	R12K	probably benign	Het
Plxna4	T	C	6: 32,493,909 (GRCm39)	I236V	probably benign	Het
Ppp1r26	T	C	2: 28,342,370 (GRCm39)	F667L	probably benign	Het
Prkx	A	G	X: 76,814,920 (GRCm39)	F247L	probably benign	Het
Qpct	G	A	17: 79,378,115 (GRCm39)	R95Q	probably benign	Het
Ralgapb	G	T	2: 158,279,392 (GRCm39)	M159I	probably benign	Het
Rnf145	T	C	11: 44,445,997 (GRCm39)	L277P	probably damaging	Het
Scn9a	A	G	2: 66,366,669 (GRCm39)	S705P	probably damaging	Het
Slc4a8	A	G	15: 100,704,254 (GRCm39)	T750A	probably damaging	Het
Slc66a1	A	T	4: 139,029,166 (GRCm39)	V106D	probably damaging	Het
Syne2	A	G	12: 76,141,230 (GRCm39)	E6114G	probably damaging	Het
Tat	T	C	8: 110,724,236 (GRCm39)	M375T	probably damaging	Het
Tex10	C	T	4: 48,436,522 (GRCm39)		probably benign	Het
Tmprss11e	T	C	5: 86,861,587 (GRCm39)	K320E	probably benign	Het
Tnr	T	C	1: 159,685,840 (GRCm39)	I357T	probably damaging	Het
Vmn1r229	A	T	17: 21,035,638 (GRCm39)	R294S	possibly damaging	Het
Vmn2r116	G	A	17: 23,620,443 (GRCm39)	D726N	probably damaging	Het
Vpreb1b	T	A	16: 17,798,934 (GRCm39)	L140*	probably null	Het
Wfs1	G	A	5: 37,125,286 (GRCm39)	P535L	probably damaging	Het
Xdh	A	G	17: 74,229,532 (GRCm39)	L307P	probably damaging	Het
Zfp160	A	G	17: 21,241,090 (GRCm39)	S53G	probably benign	Het
Zfp319	A	G	8: 96,054,659 (GRCm39)	C515R	probably damaging	Het
Zfp747	A	G	7: 126,974,929 (GRCm39)	F24L	possibly damaging	Het
Zzef1	A	T	11: 72,739,460 (GRCm39)		probably benign	Het

Other mutations in Nfatc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00515:Nfatc1	APN	18	80,710,241 (GRCm39)	missense	probably damaging	1.00
IGL00742:Nfatc1	APN	18	80,741,229 (GRCm39)	missense	probably benign	0.20
IGL01510:Nfatc1	APN	18	80,741,403 (GRCm39)	missense	probably damaging	1.00
IGL01790:Nfatc1	APN	18	80,710,257 (GRCm39)	missense	probably damaging	1.00
IGL02548:Nfatc1	APN	18	80,741,113 (GRCm39)	missense	probably damaging	1.00
goldfeld	UTSW	18	80,741,047 (GRCm39)	missense	probably damaging	0.99
Instrumenten	UTSW	18	80,725,406 (GRCm39)	missense	probably damaging	0.98
Original	UTSW	18	80,696,779 (GRCm39)	splice site	probably null
BB003:Nfatc1	UTSW	18	80,740,881 (GRCm39)	missense	probably damaging	0.96
BB013:Nfatc1	UTSW	18	80,740,881 (GRCm39)	missense	probably damaging	0.96
R0019:Nfatc1	UTSW	18	80,678,719 (GRCm39)	missense	probably benign
R0411:Nfatc1	UTSW	18	80,741,257 (GRCm39)	missense	possibly damaging	0.88
R0738:Nfatc1	UTSW	18	80,741,125 (GRCm39)	missense	probably damaging	1.00
R0940:Nfatc1	UTSW	18	80,679,110 (GRCm39)	missense	probably benign	0.03
R1458:Nfatc1	UTSW	18	80,708,482 (GRCm39)	splice site	probably benign
R1622:Nfatc1	UTSW	18	80,710,182 (GRCm39)	missense	probably damaging	1.00
R1845:Nfatc1	UTSW	18	80,678,746 (GRCm39)	missense	possibly damaging	0.67
R2110:Nfatc1	UTSW	18	80,678,879 (GRCm39)	nonsense	probably null
R2112:Nfatc1	UTSW	18	80,678,879 (GRCm39)	nonsense	probably null
R3857:Nfatc1	UTSW	18	80,708,490 (GRCm39)	splice site	probably benign
R3859:Nfatc1	UTSW	18	80,708,490 (GRCm39)	splice site	probably benign
R4108:Nfatc1	UTSW	18	80,741,583 (GRCm39)	missense	possibly damaging	0.68
R4510:Nfatc1	UTSW	18	80,678,794 (GRCm39)	missense	probably damaging	0.96
R4511:Nfatc1	UTSW	18	80,678,794 (GRCm39)	missense	probably damaging	0.96
R4618:Nfatc1	UTSW	18	80,741,047 (GRCm39)	missense	probably damaging	0.99
R4850:Nfatc1	UTSW	18	80,741,080 (GRCm39)	missense	probably benign	0.30
R5329:Nfatc1	UTSW	18	80,751,332 (GRCm39)	start codon destroyed	probably null
R5395:Nfatc1	UTSW	18	80,679,235 (GRCm39)	missense	possibly damaging	0.80
R5468:Nfatc1	UTSW	18	80,693,070 (GRCm39)	missense	probably benign	0.00
R5522:Nfatc1	UTSW	18	80,696,744 (GRCm39)	missense	probably benign	0.36
R5568:Nfatc1	UTSW	18	80,693,037 (GRCm39)	missense	probably benign	0.12
R6111:Nfatc1	UTSW	18	80,741,125 (GRCm39)	missense	probably damaging	1.00
R6190:Nfatc1	UTSW	18	80,755,885 (GRCm39)	missense	probably benign	0.21
R6397:Nfatc1	UTSW	18	80,679,156 (GRCm39)	missense	probably damaging	1.00
R6943:Nfatc1	UTSW	18	80,678,770 (GRCm39)	missense	probably damaging	1.00
R6970:Nfatc1	UTSW	18	80,710,228 (GRCm39)	missense	probably benign	0.34
R6994:Nfatc1	UTSW	18	80,696,779 (GRCm39)	splice site	probably null
R7679:Nfatc1	UTSW	18	80,651,205 (GRCm39)	missense	probably benign
R7703:Nfatc1	UTSW	18	80,725,504 (GRCm39)	missense	probably damaging	1.00
R7926:Nfatc1	UTSW	18	80,740,881 (GRCm39)	missense	probably damaging	0.96
R8346:Nfatc1	UTSW	18	80,725,382 (GRCm39)	missense	probably benign	0.00
R8411:Nfatc1	UTSW	18	80,710,257 (GRCm39)	missense	probably damaging	1.00
R8480:Nfatc1	UTSW	18	80,678,859 (GRCm39)	missense	probably benign	0.15
R8669:Nfatc1	UTSW	18	80,725,406 (GRCm39)	missense	probably damaging	0.98
R8928:Nfatc1	UTSW	18	80,741,180 (GRCm39)	missense	possibly damaging	0.82
R9194:Nfatc1	UTSW	18	80,751,258 (GRCm39)	missense	probably benign	0.04
R9281:Nfatc1	UTSW	18	80,741,190 (GRCm39)	missense	probably damaging	1.00
R9517:Nfatc1	UTSW	18	80,725,406 (GRCm39)	missense	probably damaging	0.98
R9562:Nfatc1	UTSW	18	80,678,916 (GRCm39)	missense	probably damaging	1.00
R9636:Nfatc1	UTSW	18	80,706,611 (GRCm39)	missense	possibly damaging	0.50
X0062:Nfatc1	UTSW	18	80,740,833 (GRCm39)	missense	probably benign	0.29

Predicted Primers

PCR Primer
(F):5'- TTGGGACAGAGCACTTGTCG -3'
(R):5'- TGACCTGTGGACCAATGAGC -3'

Sequencing Primer
(F):5'- ACAGCTACTGTTCAGATGTGGACTC -3'
(R):5'- CCAATGAGCCAGGGGATTAGTCC -3'

Posted On

2014-10-01