Mutagenetix > Incidental Mutation

Incidental Mutation 'R6190:Nfatc1'

502526

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

044330-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6190 (G1)

Quality Score

189.009

Status

Not validated

Chromosome

Chromosomal Location

80649420-80756286 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80755885 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 33 (S33P)

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
AA Change: S33P

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000077196
Gene: ENSMUSG00000033016
AA Change: S33P

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
AA Change: S33P

PolyPhen 2 Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000129001
Gene: ENSMUSG00000033016
AA Change: S33P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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 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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	T	A	16: 8,423,472 (GRCm39)	L224Q	probably damaging	Het
Abcc5	A	G	16: 20,211,529 (GRCm39)	M478T	probably benign	Het
Acot10	T	C	15: 20,665,871 (GRCm39)	D290G	possibly damaging	Het
Actr3b	A	G	5: 26,036,688 (GRCm39)	Q167R	probably benign	Het
Actr8	C	T	14: 29,713,674 (GRCm39)	R565*	probably null	Het
Adcy7	C	T	8: 89,052,358 (GRCm39)		probably null	Het
Adgrb3	C	T	1: 25,459,728 (GRCm39)	V576I	probably benign	Het
Adgrv1	T	A	13: 81,607,882 (GRCm39)		probably null	Het
Adgrv1	A	T	13: 81,672,898 (GRCm39)		probably null	Het
Ak2	A	G	4: 128,892,976 (GRCm39)	D45G	probably damaging	Het
Ak9	C	G	10: 41,298,403 (GRCm39)	Q1489E	unknown	Het
Ak9	A	T	10: 41,298,404 (GRCm39)	Q1489L	unknown	Het
Akap12	C	A	10: 4,306,268 (GRCm39)	S1026Y	possibly damaging	Het
Ankhd1	T	G	18: 36,744,862 (GRCm39)	S601A	possibly damaging	Het
Apba2	A	T	7: 64,389,628 (GRCm39)	E508V	probably damaging	Het
Arhgap18	A	G	10: 26,722,031 (GRCm39)	M1V	probably null	Het
Arhgef10l	G	A	4: 140,270,073 (GRCm39)	T865M	possibly damaging	Het
Bdh1	T	A	16: 31,268,715 (GRCm39)	V150D	probably damaging	Het
Becn1	A	G	11: 101,186,200 (GRCm39)	C135R	probably damaging	Het
C2cd4d	A	G	3: 94,271,226 (GRCm39)	D164G	probably benign	Het
Cacna1e	C	A	1: 154,362,316 (GRCm39)	V424F	possibly damaging	Het
Capn7	C	A	14: 31,085,560 (GRCm39)	T511K	probably benign	Het
Cdc5l	G	A	17: 45,718,943 (GRCm39)	P558S	probably benign	Het
Cep170	T	A	1: 176,609,975 (GRCm39)	H112L	probably damaging	Het
Cfap61	C	T	2: 145,789,053 (GRCm39)	T19M	probably benign	Het
Clca3a1	A	G	3: 144,463,821 (GRCm39)	V152A	probably benign	Het
Cnot10	G	T	9: 114,461,791 (GRCm39)	T24K	probably damaging	Het
Cntnap5b	T	A	1: 100,306,800 (GRCm39)	I839N	possibly damaging	Het
Cyp4f13	A	T	17: 33,148,847 (GRCm39)	D299E	probably damaging	Het
Dclk1	A	G	3: 55,395,232 (GRCm39)	E128G	probably damaging	Het
Dennd1b	T	C	1: 139,061,413 (GRCm39)	I365T	probably damaging	Het
Dgcr8	T	C	16: 18,102,274 (GRCm39)	T3A	probably damaging	Het
Dld	A	C	12: 31,394,847 (GRCm39)	I58S	probably damaging	Het
Dlg5	T	A	14: 24,240,506 (GRCm39)	R248S	probably damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Faf1	C	T	4: 109,719,012 (GRCm39)	L373F	probably damaging	Het
Fam171b	C	T	2: 83,707,042 (GRCm39)	T304I	probably benign	Het
Fcgrt	A	T	7: 44,751,622 (GRCm39)		probably null	Het
Gimap9	T	C	6: 48,655,285 (GRCm39)	W291R	probably damaging	Het
Gm4847	G	A	1: 166,457,892 (GRCm39)	A487V	probably damaging	Het
Gria4	T	A	9: 4,420,199 (GRCm39)	I888F	probably benign	Het
Hapln2	T	A	3: 87,930,600 (GRCm39)	I224F	probably damaging	Het
Herc1	T	G	9: 66,283,663 (GRCm39)	L332R	possibly damaging	Het
Hmgxb4	T	C	8: 75,749,927 (GRCm39)	V481A	probably benign	Het
Htr1d	T	C	4: 136,170,109 (GRCm39)	S113P	probably damaging	Het
Ift81	T	C	5: 122,689,163 (GRCm39)	Q651R	probably benign	Het
Il17ra	T	C	6: 120,452,234 (GRCm39)	S199P	probably damaging	Het
Itih2	T	C	2: 10,103,318 (GRCm39)	N723S	probably benign	Het
Jak1	A	T	4: 101,032,325 (GRCm39)	V427E	probably damaging	Het
Krt23	C	T	11: 99,376,584 (GRCm39)	D191N	probably damaging	Het
Lingo1	T	A	9: 56,526,934 (GRCm39)	I552F	possibly damaging	Het
Llgl2	G	A	11: 115,737,812 (GRCm39)	R199Q	probably benign	Het
Lrrc37a	G	T	11: 103,392,042 (GRCm39)	Q1128K	possibly damaging	Het
Lrrc74a	T	C	12: 86,783,263 (GRCm39)	V36A	probably benign	Het
M1ap	T	A	6: 82,980,877 (GRCm39)	D254E	possibly damaging	Het
Mal2	C	T	15: 54,434,794 (GRCm39)		probably benign	Het
Mbnl2	A	G	14: 120,622,833 (GRCm39)	T124A	probably benign	Het
Nfkbid	A	G	7: 30,125,162 (GRCm39)	N253S	probably damaging	Het
Ngfr	T	A	11: 95,465,267 (GRCm39)	I194F	probably benign	Het
Nhsl1	A	G	10: 18,345,789 (GRCm39)		probably benign	Het
Nol9	T	A	4: 152,125,691 (GRCm39)	I214N	possibly damaging	Het
Or1o3	A	G	17: 37,573,635 (GRCm39)	S307P	probably benign	Het
Or5p56	T	C	7: 107,590,307 (GRCm39)	L245P	probably damaging	Het
Or8k3	T	A	2: 86,058,578 (GRCm39)	T246S	possibly damaging	Het
Pax3	C	T	1: 78,169,186 (GRCm39)	S160N	possibly damaging	Het
Pde3b	A	G	7: 114,122,267 (GRCm39)		probably null	Het
Pde5a	A	C	3: 122,522,956 (GRCm39)	E21A	probably benign	Het
Plcxd1	A	G	5: 110,250,469 (GRCm39)	E270G	probably damaging	Het
Plxna1	T	A	6: 89,333,586 (GRCm39)	K348*	probably null	Het
Pramel34	A	T	5: 93,785,937 (GRCm39)	N114K	probably benign	Het
Prb1b	T	A	6: 132,289,692 (GRCm39)	H44L	unknown	Het
Psg21	G	T	7: 18,388,926 (GRCm39)	D55E	possibly damaging	Het
Rasa1	C	A	13: 85,381,814 (GRCm39)	A493S	probably benign	Het
Raver2	A	G	4: 100,990,814 (GRCm39)	I396V	probably benign	Het
Rpa2	A	G	4: 132,502,331 (GRCm39)	K138E	probably benign	Het
Rsad1	T	C	11: 94,439,062 (GRCm39)	N133D	probably damaging	Het
Rusc1	T	C	3: 88,999,188 (GRCm39)	D198G	probably benign	Het
Samsn1	A	T	16: 75,667,803 (GRCm39)	Y258N	probably damaging	Het
Scap	A	G	9: 110,203,135 (GRCm39)	N270D	probably benign	Het
Shisal2a	A	T	4: 108,225,052 (GRCm39)	I170N	probably damaging	Het
Smpd4	T	C	16: 17,449,877 (GRCm39)	Y200H	probably damaging	Het
Steap2	A	G	5: 5,725,881 (GRCm39)	V381A	probably damaging	Het
Syk	C	T	13: 52,765,089 (GRCm39)	T72I	probably damaging	Het
Tbc1d14	T	C	5: 36,729,228 (GRCm39)	D66G	possibly damaging	Het
Tcp11	A	G	17: 28,290,691 (GRCm39)	Y223H	probably benign	Het
Timm9	A	G	12: 71,173,124 (GRCm39)	S8P	probably benign	Het
Tmpo	T	C	10: 91,000,069 (GRCm39)		probably null	Het
Vezf1	T	C	11: 87,967,012 (GRCm39)	M81T	probably benign	Het
Vipr1	T	A	9: 121,493,719 (GRCm39)	W257R	probably damaging	Het
Vmn1r237	G	A	17: 21,534,556 (GRCm39)	G93D	probably damaging	Het
Vmn2r6	A	G	3: 64,445,424 (GRCm39)	V678A	probably benign	Het
Vmn2r85	T	C	10: 130,261,330 (GRCm39)	T336A	possibly damaging	Het
Xpnpep3	C	A	15: 81,322,300 (GRCm39)	D296E	probably benign	Het
Zfp35	C	A	18: 24,137,118 (GRCm39)	H487Q	probably benign	Het
Zfp606	A	T	7: 12,227,928 (GRCm39)	Y625F	probably damaging	Het
Zfp677	A	G	17: 21,617,530 (GRCm39)	T196A	possibly damaging	Het
Zmym1	T	C	4: 126,941,677 (GRCm39)	I904V	probably damaging	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
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
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'- ACACCCTTCACAGTGTGTG -3'
(R):5'- CGTGATGTCACTGAAGGGAG -3'

Sequencing Primer
(F):5'- TGTGTGCCACGCTGTCC -3'
(R):5'- GGTGTTTTCCAGCTTTAAAAAGGCAG -3'

Posted On

2018-02-27