Mutagenetix > Incidental Mutation

Incidental Mutation 'R1845:Nfatc1'

207690

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

039870-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1845 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80649420-80756286 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80678746 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 881 (K881E)

Ref Sequence

ENSEMBL: ENSMUSP00000129001 (fasta)

Gene Model

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

AlphaFold

no structure available at present

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
AA Change: K867E

PolyPhen 2 Score 0.412 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000126884
Gene: ENSMUSG00000033016
AA Change: K867E

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: K881E

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000129001
Gene: ENSMUSG00000033016
AA Change: K881E

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: 97.4%
3x: 96.8%
10x: 95.0%
20x: 91.7%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	CGGG	CGGGGGG	15: 76,833,863 (GRCm39)		probably benign	Het
Abca17	A	T	17: 24,486,690 (GRCm39)	C1446S	probably damaging	Het
Asb16	C	A	11: 102,167,582 (GRCm39)	A316E	possibly damaging	Het
Axdnd1	C	T	1: 156,204,114 (GRCm39)	V384I	possibly damaging	Het
BC024139	A	T	15: 76,009,461 (GRCm39)	L207*	probably null	Het
Bcl3	T	G	7: 19,543,552 (GRCm39)	S305R	probably damaging	Het
Cachd1	T	C	4: 100,634,555 (GRCm39)	V77A	probably benign	Het
Cd101	C	T	3: 100,936,764 (GRCm39)		probably null	Het
Cela1	T	C	15: 100,583,048 (GRCm39)	N64S	probably benign	Het
Cep128	T	C	12: 91,256,372 (GRCm39)	D366G	probably benign	Het
Col12a1	A	G	9: 79,604,823 (GRCm39)	V675A	probably benign	Het
Copg1	A	G	6: 87,870,800 (GRCm39)	Y201C	probably damaging	Het
Cyp24a1	T	C	2: 170,329,837 (GRCm39)	R372G	probably benign	Het
Dcaf1	A	C	9: 106,729,161 (GRCm39)	I567L	probably benign	Het
Dcn	A	G	10: 97,342,536 (GRCm39)	D164G	probably benign	Het
Dnase2a	T	A	8: 85,635,951 (GRCm39)	H113Q	probably benign	Het
Espl1	T	C	15: 102,207,448 (GRCm39)	V304A	probably benign	Het
Fam193a	A	G	5: 34,600,716 (GRCm39)	D315G	possibly damaging	Het
Fkbp8	T	A	8: 70,983,685 (GRCm39)		probably null	Het
Foxp4	T	A	17: 48,188,884 (GRCm39)	T321S	probably null	Het
Fut10	A	G	8: 31,726,328 (GRCm39)	N361S	probably damaging	Het
Gyg1	A	T	3: 20,205,286 (GRCm39)	V94D	probably damaging	Het
Has2	T	C	15: 56,531,974 (GRCm39)	K247R	probably damaging	Het
Helz2	G	T	2: 180,873,878 (GRCm39)	D2205E	probably benign	Het
Hps6	T	A	19: 45,993,409 (GRCm39)	S449T	probably benign	Het
Ints10	T	C	8: 69,247,323 (GRCm39)	Y64H	probably damaging	Het
Kalrn	T	C	16: 34,177,331 (GRCm39)	H278R	probably damaging	Het
Klhdc8a	T	C	1: 132,231,548 (GRCm39)	V280A	possibly damaging	Het
Klk1b5	A	G	7: 43,869,549 (GRCm39)	M210V	probably benign	Het
Kmt2c	G	A	5: 25,578,434 (GRCm39)	A614V	probably benign	Het
Lck	T	A	4: 129,451,879 (GRCm39)	I45F	probably benign	Het
Lin7a	A	C	10: 107,247,920 (GRCm39)	E75A	probably damaging	Het
Lrp1	A	T	10: 127,414,542 (GRCm39)	C1070S	probably damaging	Het
Mapk8ip3	G	T	17: 25,133,557 (GRCm39)	N289K	probably benign	Het
Mbtps1	T	C	8: 120,249,232 (GRCm39)	D686G	probably benign	Het
Mknk1	T	A	4: 115,730,428 (GRCm39)	C178*	probably null	Het
Mtmr6	A	G	14: 60,534,184 (GRCm39)	N474S	probably damaging	Het
Mvb12b	A	G	2: 33,730,169 (GRCm39)		probably null	Het
Myh6	T	C	14: 55,182,131 (GRCm39)	K1759R	probably damaging	Het
Nlrp10	A	G	7: 108,526,248 (GRCm39)	F30S	probably damaging	Het
Nop14	G	T	5: 34,807,672 (GRCm39)	A430E	possibly damaging	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Or1j18	A	T	2: 36,624,854 (GRCm39)	I174F	probably damaging	Het
Or4c107	A	G	2: 88,789,211 (GRCm39)	I134V	probably damaging	Het
Or4c108	A	G	2: 88,803,482 (GRCm39)	V251A	probably benign	Het
Or6c205	A	G	10: 129,086,463 (GRCm39)	E20G	probably benign	Het
Or6c88	A	T	10: 129,407,217 (GRCm39)	Q231L	probably damaging	Het
Or7g17	A	T	9: 18,768,782 (GRCm39)	Y287F	possibly damaging	Het
Osbpl7	C	A	11: 96,949,954 (GRCm39)	S378R	probably damaging	Het
Otof	A	T	5: 30,529,067 (GRCm39)	Y1775*	probably null	Het
Parp16	T	C	9: 65,122,876 (GRCm39)	S46P	possibly damaging	Het
Pdlim2	C	T	14: 70,402,228 (GRCm39)	R296H	probably damaging	Het
Pi16	A	T	17: 29,538,361 (GRCm39)	Q58L	possibly damaging	Het
Pld3	C	A	7: 27,238,877 (GRCm39)	M190I	probably benign	Het
Plscr4	T	G	9: 92,372,099 (GRCm39)	I290S	probably damaging	Het
Ppip5k2	T	C	1: 97,651,531 (GRCm39)	D928G	possibly damaging	Het
Ppp1r13l	T	A	7: 19,102,536 (GRCm39)	L15Q	probably damaging	Het
Prorp	T	A	12: 55,351,117 (GRCm39)	I142N	possibly damaging	Het
Ptpn14	C	A	1: 189,571,699 (GRCm39)	S263R	possibly damaging	Het
Sema7a	G	A	9: 57,862,182 (GRCm39)	V178I	possibly damaging	Het
Sesn2	A	T	4: 132,224,381 (GRCm39)	Y342*	probably null	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Sltm	A	G	9: 70,450,314 (GRCm39)	N38S	possibly damaging	Het
Smg1	T	C	7: 117,753,845 (GRCm39)		probably benign	Het
Spsb1	A	T	4: 149,991,367 (GRCm39)	V67E	probably damaging	Het
Suox	A	G	10: 128,506,408 (GRCm39)	V540A	possibly damaging	Het
Tbc1d12	T	A	19: 38,899,529 (GRCm39)	I483N	probably damaging	Het
Tbcb	A	T	7: 29,923,924 (GRCm39)	D198E	possibly damaging	Het
Tbce	T	C	13: 14,194,294 (GRCm39)	K122E	probably benign	Het
Tcap	T	A	11: 98,275,205 (GRCm39)	L113H	probably damaging	Het
Thsd7a	A	T	6: 12,321,040 (GRCm39)	I1545N	probably damaging	Het
Tmed10	T	C	12: 85,421,277 (GRCm39)	T55A	possibly damaging	Het
Tmem268	T	A	4: 63,498,180 (GRCm39)	V200D	probably damaging	Het
Tmem45b	A	C	9: 31,342,651 (GRCm39)	I50M	probably damaging	Het
Trp53bp2	T	C	1: 182,286,468 (GRCm39)	W1103R	probably damaging	Het
Ttn	C	T	2: 76,594,377 (GRCm39)	V20524M	probably damaging	Het
Ulk2	A	T	11: 61,703,564 (GRCm39)	N379K	probably benign	Het
Vmn1r59	A	G	7: 5,457,553 (GRCm39)	V69A	probably benign	Het
Vmn2r10	A	T	5: 109,149,861 (GRCm39)	Y394*	probably null	Het
Zfp212	T	C	6: 47,908,475 (GRCm39)	S485P	probably benign	Het
Zfp512b	A	T	2: 181,227,528 (GRCm39)	C776S	probably damaging	Het
Zfp518b	A	G	5: 38,829,084 (GRCm39)	Y974H	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
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'- CAACTCAATGGCTGTGCAC -3'
(R):5'- GTGGTCACCTTGGACTTCAG -3'

Sequencing Primer
(F):5'- AATGGCTGTGCACACACCG -3'
(R):5'- TTGGACTTCAGCCACCCG -3'

Posted On

2014-06-23