Mutagenetix > Incidental Mutation

Incidental Mutation 'R2112:Nfatc1'

232709

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

040116-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2112 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80649420-80756286 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 80678879 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 836 (C836*)

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 null
Transcript: ENSMUST00000167977
AA Change: C822*

SMART Domains

Protein: ENSMUSP00000126884
Gene: ENSMUSG00000033016
AA Change: C822*

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 null
Transcript: ENSMUST00000170905
AA Change: C836*

SMART Domains

Protein: ENSMUSP00000129001
Gene: ENSMUSG00000033016
AA Change: C836*

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1b	A	G	5: 121,638,777 (GRCm39)		probably benign	Het
Adprhl1	A	G	8: 13,298,694 (GRCm39)	Y79H	probably damaging	Het
Ambra1	T	A	2: 91,706,132 (GRCm39)	W746R	probably damaging	Het
Ankhd1	A	T	18: 36,774,679 (GRCm39)	K1420I	probably damaging	Het
Ap1b1	T	C	11: 4,965,613 (GRCm39)	F51L	probably damaging	Het
Arhgap24	A	C	5: 103,040,366 (GRCm39)	R434S	probably damaging	Het
Arhgap29	T	C	3: 121,805,210 (GRCm39)	L525P	probably benign	Het
Arpc1b	T	C	5: 145,060,579 (GRCm39)	Y124H	probably damaging	Het
Arr3	T	A	X: 99,658,247 (GRCm39)	F269L	possibly damaging	Het
Atp11b	G	T	3: 35,891,677 (GRCm39)	V830F	probably damaging	Het
Ccdc71l	T	A	12: 32,429,229 (GRCm39)	F83I	probably damaging	Het
Cdh23	G	T	10: 60,141,362 (GRCm39)	F3127L	probably damaging	Het
Cfap251	G	A	5: 123,392,438 (GRCm39)		probably benign	Het
Cldn15	T	A	5: 136,997,016 (GRCm39)	M19K	possibly damaging	Het
Cog4	A	G	8: 111,585,214 (GRCm39)	Y292C	possibly damaging	Het
Col12a1	A	G	9: 79,551,181 (GRCm39)	V2145A	possibly damaging	Het
Col5a3	T	C	9: 20,721,073 (GRCm39)	I110V	unknown	Het
Cps1	T	A	1: 67,216,139 (GRCm39)	D821E	probably benign	Het
Crnkl1	A	T	2: 145,772,617 (GRCm39)	Y153*	probably null	Het
Dock10	T	A	1: 80,483,359 (GRCm39)	K2082M	probably damaging	Het
Dock10	T	C	1: 80,483,360 (GRCm39)	K2083E	probably damaging	Het
Dst	T	C	1: 34,208,259 (GRCm39)	S737P	probably damaging	Het
Dthd1	T	C	5: 63,000,222 (GRCm39)	S515P	probably damaging	Het
Dthd1	T	C	5: 62,979,251 (GRCm39)	Y304H	probably damaging	Het
Etf1	A	T	18: 35,042,154 (GRCm39)		probably null	Het
Fmnl2	A	G	2: 52,995,549 (GRCm39)	E424G	probably damaging	Het
Galt	A	G	4: 41,758,245 (GRCm39)	T337A	probably benign	Het
Gbp4	A	G	5: 105,283,042 (GRCm39)	L76P	possibly damaging	Het
Gcfc2	C	A	6: 81,900,759 (GRCm39)	D24E	probably benign	Het
Gigyf2	A	G	1: 87,368,452 (GRCm39)	H1044R	probably damaging	Het
Glg1	T	C	8: 111,919,178 (GRCm39)	D315G	probably damaging	Het
Gm4787	C	T	12: 81,424,607 (GRCm39)	C517Y	probably damaging	Het
Gnl3l	A	G	X: 149,780,290 (GRCm39)	S217P	probably damaging	Het
Gpr37	T	C	6: 25,669,380 (GRCm39)	Y488C	possibly damaging	Het
Hap1	T	C	11: 100,244,825 (GRCm39)	D240G	probably benign	Het
Hhla1	C	G	15: 65,808,232 (GRCm39)	W271S	probably benign	Het
Hmgxb3	T	C	18: 61,288,458 (GRCm39)	R470G	possibly damaging	Het
Inpp5a	A	G	7: 139,154,877 (GRCm39)	D332G	probably damaging	Het
Insr	A	G	8: 3,219,748 (GRCm39)	S925P	probably benign	Het
Isoc2b	T	A	7: 4,852,474 (GRCm39)	D171V	probably damaging	Het
Kif20b	T	C	19: 34,909,132 (GRCm39)	I223T	probably benign	Het
Krt6b	T	C	15: 101,586,999 (GRCm39)	T258A	possibly damaging	Het
Lipo4	G	A	19: 33,488,926 (GRCm39)	P219L	probably benign	Het
Luc7l	T	C	17: 26,474,101 (GRCm39)		probably null	Het
Madd	T	C	2: 91,007,321 (GRCm39)	K264E	possibly damaging	Het
Mcf2l	A	T	8: 13,051,867 (GRCm39)	K433N	probably damaging	Het
Mob3b	A	T	4: 35,083,795 (GRCm39)	N131K	probably damaging	Het
Mtus1	G	T	8: 41,475,608 (GRCm39)	P819T	probably damaging	Het
Myo15a	T	C	11: 60,384,994 (GRCm39)	F1699L	probably damaging	Het
Nav1	C	T	1: 135,376,742 (GRCm39)	R1694Q	probably damaging	Het
Neb	G	C	2: 52,218,776 (GRCm39)	T78S	probably damaging	Het
Nek2	T	C	1: 191,559,320 (GRCm39)	V275A	probably benign	Het
Nos1	T	C	5: 118,074,636 (GRCm39)	V1060A	probably benign	Het
Notch3	T	A	17: 32,363,584 (GRCm39)	I1160F	probably benign	Het
Nox4	T	C	7: 87,021,216 (GRCm39)	L476P	probably damaging	Het
Npc1	A	T	18: 12,346,529 (GRCm39)	N222K	possibly damaging	Het
Nrn1l	C	A	8: 106,621,378 (GRCm39)	H109Q	possibly damaging	Het
Or4c11	T	C	2: 88,695,545 (GRCm39)	S199P	possibly damaging	Het
Or4k15	G	T	14: 50,364,080 (GRCm39)	L15F	probably damaging	Het
Or6d13	T	C	6: 116,517,611 (GRCm39)	Y66H	possibly damaging	Het
Or7a41	T	C	10: 78,871,248 (GRCm39)	L206P	probably damaging	Het
Or8g27	T	C	9: 39,129,075 (GRCm39)	Y141H	probably benign	Het
Or8g33	C	A	9: 39,337,966 (GRCm39)	V134L	probably benign	Het
Pcnt	T	C	10: 76,256,360 (GRCm39)	K627E	probably damaging	Het
Plch1	T	A	3: 63,630,227 (GRCm39)	T514S	probably damaging	Het
Ppargc1b	G	A	18: 61,444,321 (GRCm39)	P297S	probably benign	Het
Ppig	A	G	2: 69,580,451 (GRCm39)	T662A	unknown	Het
Prdm2	A	C	4: 142,858,506 (GRCm39)	S1595A	probably benign	Het
Ptpn5	T	A	7: 46,732,890 (GRCm39)	T318S	probably benign	Het
Ralgps2	A	G	1: 156,660,278 (GRCm39)	Y265H	probably damaging	Het
Seh1l	T	C	18: 67,920,249 (GRCm39)	I182T	probably damaging	Het
Slc12a6	T	C	2: 112,186,830 (GRCm39)	I943T	probably damaging	Het
Slc5a5	A	T	8: 71,342,395 (GRCm39)		probably null	Het
Sparcl1	T	A	5: 104,236,289 (GRCm39)	Q488L	probably damaging	Het
Sphkap	T	G	1: 83,253,602 (GRCm39)	K1382N	probably benign	Het
Sybu	T	C	15: 44,536,731 (GRCm39)	S532G	probably benign	Het
Syde2	G	A	3: 145,704,241 (GRCm39)	G131S	possibly damaging	Het
Taok1	C	T	11: 77,462,472 (GRCm39)	V206I	probably benign	Het
Tas1r2	G	T	4: 139,382,666 (GRCm39)	M101I	probably benign	Het
Trpc6	C	T	9: 8,656,613 (GRCm39)	T680I	probably damaging	Het
Trub1	T	C	19: 57,473,646 (GRCm39)		probably null	Het
Tspan1	G	T	4: 116,020,885 (GRCm39)		probably null	Het
Ttc28	G	A	5: 111,424,139 (GRCm39)	E1438K	probably damaging	Het
Ubr3	A	G	2: 69,808,136 (GRCm39)	T1206A	possibly damaging	Het
Ulbp3	C	T	10: 3,076,459 (GRCm39)		noncoding transcript	Het
Usp40	A	G	1: 87,877,936 (GRCm39)	I1117T	probably benign	Het
Usp43	G	T	11: 67,812,536 (GRCm39)	N113K	probably damaging	Het
Vcan	T	A	13: 89,841,422 (GRCm39)	D414V	probably damaging	Het
Vmn1r202	T	A	13: 22,685,904 (GRCm39)	Y171F	possibly damaging	Het
Zfp142	A	G	1: 74,612,795 (GRCm39)	S451P	probably damaging	Het
Zfp516	A	G	18: 82,975,536 (GRCm39)	D578G	probably damaging	Het
Zfp90	G	A	8: 107,152,120 (GRCm39)	C611Y	probably damaging	Het
Zfp954	A	G	7: 7,118,609 (GRCm39)	C312R	probably damaging	Het
Zmym3	A	T	X: 100,450,993 (GRCm39)	V1208D	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
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'- GGCAATACGGCTGGAGATTC -3'
(R):5'- GGCCTTACTACAGCCAACAG -3'

Sequencing Primer
(F):5'- GCAATACGGCTGGAGATTCATTTC -3'
(R):5'- AGGAACACGCTGATGCC -3'

Posted On

2014-09-18