Mutagenetix > Incidental Mutation

Incidental Mutation 'R1458:Nfatc1'

161931

Institutional Source

Beutler Lab

Gene Symbol

Nfatc1

Ensembl Gene

ENSMUSG00000033016

Gene Name

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

Synonyms

NFATc, NFAT2, 2210017P03Rik, NF-ATc

MMRRC Submission

039513-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1458 (G1)

Quality Score

197

Status

Validated

Chromosome

Chromosomal Location

80606205-80713071 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 80665267 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000129001 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035800] [ENSMUST00000078049] [ENSMUST00000167977] [ENSMUST00000170905]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000035800

SMART Domains

Protein: ENSMUSP00000046312
Gene: ENSMUSG00000033016

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	7.4e-28	PFAM
IPT	582	681	8.99e-21	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000078049

SMART Domains

Protein: ENSMUSP00000077196
Gene: ENSMUSG00000033016

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

probably benign
Transcript: ENSMUST00000167977

SMART Domains

Protein: ENSMUSP00000126884
Gene: ENSMUSG00000033016

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

probably benign
Transcript: ENSMUST00000170905

SMART Domains

Protein: ENSMUSP00000129001
Gene: ENSMUSG00000033016

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.8%

Validation Efficiency

98% (95/97)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700036A12Rik	A	G	9: 60,769,761		noncoding transcript	Het
A430110L20Rik	T	A	1: 181,227,858		noncoding transcript	Het
Abce1	T	C	8: 79,707,235	K63R	possibly damaging	Het
Acp6	A	G	3: 97,173,788		probably benign	Het
Adamts13	T	A	2: 26,988,354	L579Q	probably damaging	Het
Adamtsl3	T	A	7: 82,523,320	M497K	probably damaging	Het
Adgrb2	T	A	4: 130,014,591	M1042K	possibly damaging	Het
Akap12	A	T	10: 4,353,693	S168C	probably damaging	Het
Akap3	A	T	6: 126,865,554	M379L	probably damaging	Het
Aldh6a1	C	T	12: 84,439,663	M135I	probably null	Het
Arhgef12	A	G	9: 42,988,998	S860P	probably damaging	Het
Atp11b	A	C	3: 35,789,558	T185P	probably damaging	Het
Bcas1	T	C	2: 170,387,951	D243G	probably damaging	Het
Cdhr2	T	A	13: 54,717,872	S228T	probably damaging	Het
Cic	T	C	7: 25,279,737		probably benign	Het
Cmya5	T	A	13: 93,065,327	I3376L	probably benign	Het
Ctrc	C	A	4: 141,846,224		probably null	Het
D230025D16Rik	T	C	8: 105,246,556		probably null	Het
Dchs1	G	T	7: 105,755,244	P2697Q	probably damaging	Het
Dmbt1	A	G	7: 131,044,487		probably benign	Het
Drd2	G	A	9: 49,402,212	R227H	probably damaging	Het
Dscc1	C	A	15: 55,086,764	C195F	probably damaging	Het
Dzip1	T	A	14: 118,922,713	M28L	probably benign	Het
Edar	A	T	10: 58,607,366	S313T	probably benign	Het
Eef1e1	C	A	13: 38,656,123	A69S	probably damaging	Het
Fbn1	A	G	2: 125,301,929	V2760A	probably benign	Het
Fez1	GACAAACA	GACA	9: 36,870,549		probably null	Het
Fgl1	C	G	8: 41,210,459	A11P	possibly damaging	Het
Fras1	T	C	5: 96,600,733	V689A	probably benign	Het
Fry	T	A	5: 150,380,859	D571E	probably damaging	Het
Gm11232	T	A	4: 71,757,213	R104*	probably null	Het
Gm1527	A	G	3: 28,918,050	I439V	possibly damaging	Het
Gm4922	C	A	10: 18,783,892	G361*	probably null	Het
Gm7052	T	A	17: 22,040,466		probably benign	Het
Gm7534	T	C	4: 134,196,833	D467G	probably benign	Het
Gpatch8	A	T	11: 102,481,229	S494R	unknown	Het
Gria2	A	T	3: 80,732,045	V220E	possibly damaging	Het
Grik4	G	A	9: 42,521,122	H860Y	probably benign	Het
Gtpbp1	A	C	15: 79,707,729	S93R	probably damaging	Het
Gucy2g	C	A	19: 55,215,036		probably benign	Het
Hist1h2ae	C	A	13: 23,571,047		probably benign	Het
Hmcn1	G	A	1: 150,609,700	R4384C	probably damaging	Het
Hspa12b	G	C	2: 131,145,192	A678P	probably damaging	Het
Igsf21	T	A	4: 140,028,124	N407Y	probably damaging	Het
Insig2	A	G	1: 121,307,156	Y174H	probably benign	Het
Itpr3	T	A	17: 27,118,372	M2413K	probably benign	Het
Kalrn	A	T	16: 34,174,487	I1322N	probably damaging	Het
Klk1b24	T	A	7: 44,191,466	M106K	possibly damaging	Het
Krt81	G	T	15: 101,460,317	Q352K	probably benign	Het
Lca5l	A	T	16: 96,159,859	S468T	possibly damaging	Het
Lvrn	T	C	18: 46,882,385		probably benign	Het
Mcpt1	T	A	14: 56,019,164		probably benign	Het
Med13l	T	C	5: 118,738,459	M900T	probably benign	Het
Med16	A	G	10: 79,907,478		probably benign	Het
Megf6	G	T	4: 154,177,121	V68L	probably benign	Het
Mep1a	T	C	17: 43,491,672	H154R	probably damaging	Het
Mrc2	A	T	11: 105,337,772	D659V	probably benign	Het
Mroh8	T	A	2: 157,221,304	E799V	probably damaging	Het
Mrpl21	A	G	19: 3,284,808	Y50C	possibly damaging	Het
Msl1	A	G	11: 98,803,982		probably benign	Het
Myo1a	C	A	10: 127,719,937	Q932K	probably benign	Het
Nav3	A	C	10: 109,720,044	S1675R	probably damaging	Het
Neurl2	A	G	2: 164,832,746	V232A	possibly damaging	Het
Odf3l2	A	T	10: 79,645,558		probably benign	Het
Olfr1362	C	T	13: 21,611,822	C49Y	probably benign	Het
Olfr175-ps1	T	A	16: 58,824,676	E11V	probably null	Het
P4hb	A	G	11: 120,562,555		probably benign	Het
Papss1	T	G	3: 131,605,854	I281S	probably damaging	Het
Pde10a	A	T	17: 8,964,708	D832V	probably damaging	Het
Pfkfb2	A	T	1: 130,708,190	Y35N	possibly damaging	Het
Phf20l1	T	A	15: 66,604,813	F253Y	probably damaging	Het
Pkhd1l1	G	A	15: 44,516,115	V1046I	probably benign	Het
Plin3	C	T	17: 56,284,337	A148T	probably benign	Het
Ppp1r8	T	C	4: 132,840,631		probably benign	Het
Ppp2r3a	A	G	9: 101,211,312	L604P	probably damaging	Het
Prdm5	T	C	6: 65,883,601	V239A	probably damaging	Het
Prickle1	A	G	15: 93,500,638	S770P	probably damaging	Het
Prl2c5	T	A	13: 13,190,725	I155N	probably benign	Het
Prom1	T	C	5: 44,032,932		probably benign	Het
Psg25	C	T	7: 18,529,587	G104R	probably damaging	Het
Rbm19	T	C	5: 120,144,029	V817A	probably benign	Het
Ryr2	T	A	13: 11,727,022	Y2091F	probably damaging	Het
Slc16a4	A	G	3: 107,300,932	T253A	probably benign	Het
Smg7	A	T	1: 152,855,843		probably null	Het
Spink5	C	A	18: 44,007,719	H662N	probably benign	Het
Taf2	A	T	15: 55,059,915	M322K	probably damaging	Het
Tmc2	T	C	2: 130,248,762	F676S	probably damaging	Het
Tmem177	A	G	1: 119,910,185	S255P	possibly damaging	Het
Trim46	A	T	3: 89,235,068		probably null	Het
Tubb1	T	A	2: 174,450,803		probably null	Het
Upf1	T	C	8: 70,344,254	T110A	probably benign	Het
Vmn2r9	T	A	5: 108,848,984	I140L	probably benign	Het
Zfp638	T	A	6: 83,944,656	H588Q	probably damaging	Het
Zfp780b	T	A	7: 27,964,827	N101I	probably damaging	Het

Other mutations in Nfatc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00515:Nfatc1	APN	18	80667026	missense	probably damaging	1.00
IGL00742:Nfatc1	APN	18	80698014	missense	probably benign	0.20
IGL01510:Nfatc1	APN	18	80698188	missense	probably damaging	1.00
IGL01790:Nfatc1	APN	18	80667042	missense	probably damaging	1.00
IGL02548:Nfatc1	APN	18	80697898	missense	probably damaging	1.00
goldfeld	UTSW	18	80697832	missense	probably damaging	0.99
Instrumenten	UTSW	18	80682191	missense	probably damaging	0.98
Original	UTSW	18	80653564	splice site	probably null
BB003:Nfatc1	UTSW	18	80697666	missense	probably damaging	0.96
BB013:Nfatc1	UTSW	18	80697666	missense	probably damaging	0.96
R0019:Nfatc1	UTSW	18	80635504	missense	probably benign
R0411:Nfatc1	UTSW	18	80698042	missense	possibly damaging	0.88
R0738:Nfatc1	UTSW	18	80697910	missense	probably damaging	1.00
R0940:Nfatc1	UTSW	18	80635895	missense	probably benign	0.03
R1622:Nfatc1	UTSW	18	80666967	missense	probably damaging	1.00
R1845:Nfatc1	UTSW	18	80635531	missense	possibly damaging	0.67
R2110:Nfatc1	UTSW	18	80635664	nonsense	probably null
R2112:Nfatc1	UTSW	18	80635664	nonsense	probably null
R2157:Nfatc1	UTSW	18	80635845	missense	possibly damaging	0.88
R3857:Nfatc1	UTSW	18	80665275	splice site	probably benign
R3859:Nfatc1	UTSW	18	80665275	splice site	probably benign
R4108:Nfatc1	UTSW	18	80698368	missense	possibly damaging	0.68
R4510:Nfatc1	UTSW	18	80635579	missense	probably damaging	0.96
R4511:Nfatc1	UTSW	18	80635579	missense	probably damaging	0.96
R4618:Nfatc1	UTSW	18	80697832	missense	probably damaging	0.99
R4850:Nfatc1	UTSW	18	80697865	missense	probably benign	0.30
R5329:Nfatc1	UTSW	18	80708117	start codon destroyed	probably null
R5395:Nfatc1	UTSW	18	80636020	missense	possibly damaging	0.80
R5468:Nfatc1	UTSW	18	80649855	missense	probably benign	0.00
R5522:Nfatc1	UTSW	18	80653529	missense	probably benign	0.36
R5568:Nfatc1	UTSW	18	80649822	missense	probably benign	0.12
R6111:Nfatc1	UTSW	18	80697910	missense	probably damaging	1.00
R6190:Nfatc1	UTSW	18	80712670	missense	probably benign	0.21
R6397:Nfatc1	UTSW	18	80635941	missense	probably damaging	1.00
R6943:Nfatc1	UTSW	18	80635555	missense	probably damaging	1.00
R6970:Nfatc1	UTSW	18	80667013	missense	probably benign	0.34
R6994:Nfatc1	UTSW	18	80653564	splice site	probably null
R7679:Nfatc1	UTSW	18	80607990	missense	probably benign
R7703:Nfatc1	UTSW	18	80682289	missense	probably damaging	1.00
R7926:Nfatc1	UTSW	18	80697666	missense	probably damaging	0.96
R8346:Nfatc1	UTSW	18	80682167	missense	probably benign	0.00
R8411:Nfatc1	UTSW	18	80667042	missense	probably damaging	1.00
R8480:Nfatc1	UTSW	18	80635644	missense	probably benign	0.15
R8669:Nfatc1	UTSW	18	80682191	missense	probably damaging	0.98
R8928:Nfatc1	UTSW	18	80697965	missense	possibly damaging	0.82
R9194:Nfatc1	UTSW	18	80708043	missense	probably benign	0.04
R9281:Nfatc1	UTSW	18	80697975	missense	probably damaging	1.00
R9517:Nfatc1	UTSW	18	80682191	missense	probably damaging	0.98
R9562:Nfatc1	UTSW	18	80635701	missense	probably damaging	1.00
R9636:Nfatc1	UTSW	18	80663396	missense	possibly damaging	0.50
X0062:Nfatc1	UTSW	18	80697618	missense	probably benign	0.29

Predicted Primers

PCR Primer
(F):5'- TATAGTTGCCAAGGCCACGAGTGC -3'
(R):5'- TCTGAGCTGCTCTGACACATCTCTG -3'

Sequencing Primer
(F):5'- CACGAGTGCTGTGTACGTTG -3'
(R):5'- TTAGTTCTGGTCCAGCAGAC -3'

Posted On

2014-03-14