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

2210017P03Rik, NF-ATc, NFATc, NFAT2

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

80649420-80756286 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 80708482 bp (GRCm39)

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: 60,677,043 (GRCm39)		noncoding transcript	Het
A430110L20Rik	T	A	1: 181,055,423 (GRCm39)		noncoding transcript	Het
Abce1	T	C	8: 80,433,864 (GRCm39)	K63R	possibly damaging	Het
Acp6	A	G	3: 97,081,104 (GRCm39)		probably benign	Het
Adamts13	T	A	2: 26,878,366 (GRCm39)	L579Q	probably damaging	Het
Adamtsl3	T	A	7: 82,172,528 (GRCm39)	M497K	probably damaging	Het
Adgrb2	T	A	4: 129,908,384 (GRCm39)	M1042K	possibly damaging	Het
Akap12	A	T	10: 4,303,693 (GRCm39)	S168C	probably damaging	Het
Akap3	A	T	6: 126,842,517 (GRCm39)	M379L	probably damaging	Het
Aldh6a1	C	T	12: 84,486,437 (GRCm39)	M135I	probably null	Het
Arhgef12	A	G	9: 42,900,294 (GRCm39)	S860P	probably damaging	Het
Atp11b	A	C	3: 35,843,707 (GRCm39)	T185P	probably damaging	Het
Bcas1	T	C	2: 170,229,871 (GRCm39)	D243G	probably damaging	Het
Cdhr2	T	A	13: 54,865,685 (GRCm39)	S228T	probably damaging	Het
Cic	T	C	7: 24,979,162 (GRCm39)		probably benign	Het
Cimap1d	A	T	10: 79,481,392 (GRCm39)		probably benign	Het
Cmya5	T	A	13: 93,201,835 (GRCm39)	I3376L	probably benign	Het
Ctrc	C	A	4: 141,573,535 (GRCm39)		probably null	Het
Dchs1	G	T	7: 105,404,451 (GRCm39)	P2697Q	probably damaging	Het
Dmbt1	A	G	7: 130,646,217 (GRCm39)		probably benign	Het
Drd2	G	A	9: 49,313,512 (GRCm39)	R227H	probably damaging	Het
Dscc1	C	A	15: 54,950,160 (GRCm39)	C195F	probably damaging	Het
Dzip1	T	A	14: 119,160,125 (GRCm39)	M28L	probably benign	Het
Edar	A	T	10: 58,443,188 (GRCm39)	S313T	probably benign	Het
Eef1e1	C	A	13: 38,840,099 (GRCm39)	A69S	probably damaging	Het
Fbn1	A	G	2: 125,143,849 (GRCm39)	V2760A	probably benign	Het
Fez1	GACAAACA	GACA	9: 36,781,845 (GRCm39)		probably null	Het
Fgl1	C	G	8: 41,663,496 (GRCm39)	A11P	possibly damaging	Het
Fras1	T	C	5: 96,748,592 (GRCm39)	V689A	probably benign	Het
Fry	T	A	5: 150,304,324 (GRCm39)	D571E	probably damaging	Het
Gm11232	T	A	4: 71,675,450 (GRCm39)	R104*	probably null	Het
Gm1527	A	G	3: 28,972,199 (GRCm39)	I439V	possibly damaging	Het
Gm4922	C	A	10: 18,659,640 (GRCm39)	G361*	probably null	Het
Gm7052	T	A	17: 22,259,447 (GRCm39)		probably benign	Het
Gpatch8	A	T	11: 102,372,055 (GRCm39)	S494R	unknown	Het
Gria2	A	T	3: 80,639,352 (GRCm39)	V220E	possibly damaging	Het
Grik4	G	A	9: 42,432,418 (GRCm39)	H860Y	probably benign	Het
Gtpbp1	A	C	15: 79,591,930 (GRCm39)	S93R	probably damaging	Het
Gucy2g	C	A	19: 55,203,468 (GRCm39)		probably benign	Het
H2ac8	C	A	13: 23,755,221 (GRCm39)		probably benign	Het
Hmcn1	G	A	1: 150,485,451 (GRCm39)	R4384C	probably damaging	Het
Hspa12b	G	C	2: 130,987,112 (GRCm39)	A678P	probably damaging	Het
Igsf21	T	A	4: 139,755,435 (GRCm39)	N407Y	probably damaging	Het
Insig2	A	G	1: 121,234,885 (GRCm39)	Y174H	probably benign	Het
Itpr3	T	A	17: 27,337,346 (GRCm39)	M2413K	probably benign	Het
Kalrn	A	T	16: 33,994,857 (GRCm39)	I1322N	probably damaging	Het
Klk1b24	T	A	7: 43,840,890 (GRCm39)	M106K	possibly damaging	Het
Krt81	G	T	15: 101,358,198 (GRCm39)	Q352K	probably benign	Het
Lca5l	A	T	16: 95,961,059 (GRCm39)	S468T	possibly damaging	Het
Lvrn	T	C	18: 47,015,452 (GRCm39)		probably benign	Het
Mcpt1	T	A	14: 56,256,621 (GRCm39)		probably benign	Het
Med13l	T	C	5: 118,876,524 (GRCm39)	M900T	probably benign	Het
Med16	A	G	10: 79,743,312 (GRCm39)		probably benign	Het
Megf6	G	T	4: 154,261,578 (GRCm39)	V68L	probably benign	Het
Mep1a	T	C	17: 43,802,563 (GRCm39)	H154R	probably damaging	Het
Mrc2	A	T	11: 105,228,598 (GRCm39)	D659V	probably benign	Het
Mroh8	T	A	2: 157,063,224 (GRCm39)	E799V	probably damaging	Het
Mrpl21	A	G	19: 3,334,808 (GRCm39)	Y50C	possibly damaging	Het
Msl1	A	G	11: 98,694,808 (GRCm39)		probably benign	Het
Myo1a	C	A	10: 127,555,806 (GRCm39)	Q932K	probably benign	Het
Nav3	A	C	10: 109,555,905 (GRCm39)	S1675R	probably damaging	Het
Neurl2	A	G	2: 164,674,666 (GRCm39)	V232A	possibly damaging	Het
Or2w4	C	T	13: 21,795,992 (GRCm39)	C49Y	probably benign	Het
Or5k8	T	A	16: 58,645,039 (GRCm39)	E11V	probably null	Het
P4hb	A	G	11: 120,453,381 (GRCm39)		probably benign	Het
Papss1	T	G	3: 131,311,615 (GRCm39)	I281S	probably damaging	Het
Pde10a	A	T	17: 9,183,540 (GRCm39)	D832V	probably damaging	Het
Pfkfb2	A	T	1: 130,635,927 (GRCm39)	Y35N	possibly damaging	Het
Phaf1	T	C	8: 105,973,188 (GRCm39)		probably null	Het
Phf20l1	T	A	15: 66,476,662 (GRCm39)	F253Y	probably damaging	Het
Pkhd1l1	G	A	15: 44,379,511 (GRCm39)	V1046I	probably benign	Het
Plin3	C	T	17: 56,591,337 (GRCm39)	A148T	probably benign	Het
Ppp1r8	T	C	4: 132,567,942 (GRCm39)		probably benign	Het
Ppp2r3d	A	G	9: 101,088,511 (GRCm39)	L604P	probably damaging	Het
Prdm5	T	C	6: 65,860,585 (GRCm39)	V239A	probably damaging	Het
Prickle1	A	G	15: 93,398,519 (GRCm39)	S770P	probably damaging	Het
Prl2c5	T	A	13: 13,365,310 (GRCm39)	I155N	probably benign	Het
Prom1	T	C	5: 44,190,274 (GRCm39)		probably benign	Het
Psg25	C	T	7: 18,263,512 (GRCm39)	G104R	probably damaging	Het
Rbm19	T	C	5: 120,282,094 (GRCm39)	V817A	probably benign	Het
Ryr2	T	A	13: 11,741,908 (GRCm39)	Y2091F	probably damaging	Het
Slc16a4	A	G	3: 107,208,248 (GRCm39)	T253A	probably benign	Het
Smg7	A	T	1: 152,731,594 (GRCm39)		probably null	Het
Spink5	C	A	18: 44,140,786 (GRCm39)	H662N	probably benign	Het
Taf2	A	T	15: 54,923,311 (GRCm39)	M322K	probably damaging	Het
Tmc2	T	C	2: 130,090,682 (GRCm39)	F676S	probably damaging	Het
Tmem177	A	G	1: 119,837,915 (GRCm39)	S255P	possibly damaging	Het
Trim46	A	T	3: 89,142,375 (GRCm39)		probably null	Het
Tubb1	T	A	2: 174,292,596 (GRCm39)		probably null	Het
Upf1	T	C	8: 70,796,904 (GRCm39)	T110A	probably benign	Het
Vmn2r9	T	A	5: 108,996,850 (GRCm39)	I140L	probably benign	Het
Zfp638	T	A	6: 83,921,638 (GRCm39)	H588Q	probably damaging	Het
Zfp780b	T	A	7: 27,664,252 (GRCm39)	N101I	probably damaging	Het
Zpld2	T	C	4: 133,924,144 (GRCm39)	D467G	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
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
R2157:Nfatc1	UTSW	18	80,679,060 (GRCm39)	missense	possibly damaging	0.88
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'- TATAGTTGCCAAGGCCACGAGTGC -3'
(R):5'- TCTGAGCTGCTCTGACACATCTCTG -3'

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

Posted On

2014-03-14