Mutagenetix > Incidental Mutation

Incidental Mutation 'R2680:Nfatc4'

476684

Institutional Source

Beutler Lab

Gene Symbol

Nfatc4

Ensembl Gene

ENSMUSG00000023411

Gene Name

nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 4

Synonyms

3110041H08Rik

MMRRC Submission

040433-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2680 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55823144-55833943 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 55832834 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024179] [ENSMUST00000172271] [ENSMUST00000226357]

AlphaFold

Q8K120

Predicted Effect

probably benign
Transcript: ENSMUST00000024179

SMART Domains

Protein: ENSMUSP00000024179
Gene: ENSMUSG00000023411

Domain	Start	End	E-Value	Type
low complexity region	18	35	N/A	INTRINSIC
low complexity region	53	82	N/A	INTRINSIC
low complexity region	96	108	N/A	INTRINSIC
low complexity region	114	130	N/A	INTRINSIC
low complexity region	151	190	N/A	INTRINSIC
low complexity region	211	224	N/A	INTRINSIC
low complexity region	272	285	N/A	INTRINSIC
low complexity region	286	312	N/A	INTRINSIC
Pfam:RHD_DNA_bind	419	578	3.5e-23	PFAM
IPT	585	684	1.29e-21	SMART
low complexity region	700	711	N/A	INTRINSIC
low complexity region	716	726	N/A	INTRINSIC
low complexity region	803	825	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000172271
AA Change: K890E

SMART Domains

Protein: ENSMUSP00000132763
Gene: ENSMUSG00000023411
AA Change: K890E

Domain	Start	End	E-Value	Type
low complexity region	18	35	N/A	INTRINSIC
low complexity region	53	82	N/A	INTRINSIC
low complexity region	96	108	N/A	INTRINSIC
low complexity region	114	130	N/A	INTRINSIC
low complexity region	151	190	N/A	INTRINSIC
low complexity region	211	224	N/A	INTRINSIC
low complexity region	272	285	N/A	INTRINSIC
low complexity region	286	312	N/A	INTRINSIC
Pfam:RHD	419	578	3.4e-23	PFAM
IPT	585	684	1.29e-21	SMART
low complexity region	700	711	N/A	INTRINSIC
low complexity region	716	726	N/A	INTRINSIC
low complexity region	803	825	N/A	INTRINSIC
low complexity region	878	889	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226293

Predicted Effect

probably benign
Transcript: ENSMUST00000226357

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226536

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226716

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226834

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226869

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227746

Predicted Effect

probably benign
Transcript: ENSMUST00000228308

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.] This gene encodes a member of the nuclear factor of activated T cells (NFAT) protein family. The encoded protein is part of a 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 stimulation and an inducible nuclear component. NFAT proteins are activated by the calmodulin-dependent phosphatase, calcineurin. The encoded protein plays a role in the inducible expression of cytokine genes in T cells, especially in the induction of interleukin-2 and interleukin-4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and overtly normal and exhibit normal embryonic heart morphology as well as normal pathophysiologic cardiac hypertrophy in response to angiotensin II infusion or aortic banding. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430531B16Rik	T	C	7: 139,978,561	D41G	probably damaging	Het
BC024139	A	G	15: 76,121,739	W421R	probably damaging	Het
Car11	T	C	7: 45,702,485	S113P	probably benign	Het
Ccdc146	C	T	5: 21,305,269	A582T	possibly damaging	Het
Cct8l1	A	G	5: 25,517,135	T283A	probably benign	Het
Ckap5	A	G	2: 91,588,698	I1118V	probably benign	Het
Copa	C	T	1: 172,121,404	Q1199*	probably null	Het
Cpd	A	T	11: 76,790,999	N1140K	probably benign	Het
Cspp1	A	G	1: 10,104,305	D661G	probably damaging	Het
Dab2	A	G	15: 6,436,993	Q729R	possibly damaging	Het
Dnah9	T	C	11: 66,033,925	I2168V	probably benign	Het
Dync1h1	G	A	12: 110,643,247	R2821H	probably damaging	Het
Ercc5	T	C	1: 44,156,973	V42A	probably benign	Het
Evc	A	G	5: 37,310,237	V566A	probably benign	Het
Fcrls	T	C	3: 87,257,349	Y290C	probably damaging	Het
Frmd4a	A	G	2: 4,534,553	R171G	probably damaging	Het
Galnt17	G	A	5: 131,111,823	P152L	probably damaging	Het
Gfi1	A	G	5: 107,721,431	L245P	probably damaging	Het
Heatr4	T	C	12: 83,980,463	K7E	possibly damaging	Het
Ifit3b	A	G	19: 34,612,305	N294D	probably benign	Het
Ift74	A	G	4: 94,653,028	Y230C	probably damaging	Het
Igsf10	C	T	3: 59,325,454	V1953I	probably benign	Het
Ikzf5	T	C	7: 131,396,761	D14G	probably damaging	Het
Il12rb2	T	A	6: 67,354,805	T259S	possibly damaging	Het
Itgae	T	A	11: 73,114,926	D305E	probably damaging	Het
Kif23	A	C	9: 61,937,476	D90E	probably benign	Het
Kprp	A	G	3: 92,824,463	F427L	unknown	Het
Lmnb1	T	A	18: 56,731,105	Y261N	probably damaging	Het
Megf8	T	C	7: 25,317,556	V17A	probably benign	Het
Mfap4	T	C	11: 61,487,231	Y190H	probably benign	Het
Mlh1	T	C	9: 111,236,017		probably null	Het
Mocos	C	A	18: 24,676,629	Q430K	probably damaging	Het
Ndst2	A	G	14: 20,724,754	F794L	probably damaging	Het
Nedd4l	A	T	18: 65,163,130	I197F	possibly damaging	Het
Nefm	A	G	14: 68,123,786	L343P	probably damaging	Het
Nlrp4a	T	A	7: 26,449,230		probably null	Het
Nlrp4f	A	T	13: 65,194,343	L496*	probably null	Het
Nom1	T	C	5: 29,443,417	F654S	probably damaging	Het
Olfr730	A	T	14: 50,186,847	Y123*	probably null	Het
Pcdhac2	A	G	18: 37,145,586	K540E	possibly damaging	Het
Pde4dip	T	C	3: 97,701,617	N1974S	possibly damaging	Het
Pik3c3	T	C	18: 30,344,078		probably null	Het
Pik3ca	C	T	3: 32,436,548	R115*	probably null	Het
Pik3ca	T	C	3: 32,443,885	I492T	probably benign	Het
Ppp1ca	G	A	19: 4,194,595	E218K	possibly damaging	Het
Prex1	G	T	2: 166,601,772	D492E	possibly damaging	Het
Scaf8	T	C	17: 3,197,591	V1063A	possibly damaging	Het
Scn3a	G	T	2: 65,536,536	N47K	probably benign	Het
Sec61a2	G	T	2: 5,873,745	N348K	probably benign	Het
Sh3rf2	A	G	18: 42,101,650	E166G	probably damaging	Het
Slc19a2	C	A	1: 164,249,413	T54K	probably damaging	Het
Slc8a3	T	A	12: 81,202,339	I765F	probably damaging	Het
Snap91	A	T	9: 86,879,550	M1K	probably null	Het
Strc	T	C	2: 121,365,111	H1619R	probably damaging	Het
Tbl1xr1	C	T	3: 22,191,451	T207M	possibly damaging	Het
Tchp	T	C	5: 114,709,519		probably null	Het
Tln1	A	T	4: 43,539,668	F1581Y	probably damaging	Het
Tnxb	T	C	17: 34,703,620	V2469A	possibly damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Vmn1r225	T	A	17: 20,502,793	F165L	probably benign	Het
Vmn2r13	T	C	5: 109,174,312	D173G	possibly damaging	Het
Vmn2r6	A	C	3: 64,538,286	S673A	possibly damaging	Het
Vta1	G	A	10: 14,705,427		probably benign	Het
Wwc1	T	C	11: 35,875,929	T500A	probably benign	Het
Zfp784	T	A	7: 5,036,117	Q147H	possibly damaging	Het

Other mutations in Nfatc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00690:Nfatc4	APN	14	55832562	missense	probably damaging	1.00
IGL01295:Nfatc4	APN	14	55832505	missense	probably benign	0.03
IGL01791:Nfatc4	APN	14	55832238	missense	probably null	0.04
IGL02536:Nfatc4	APN	14	55829910	missense	probably damaging	1.00
R0448:Nfatc4	UTSW	14	55831654	missense	possibly damaging	0.90
R0571:Nfatc4	UTSW	14	55830028	missense	probably damaging	0.96
R0743:Nfatc4	UTSW	14	55826644	missense	probably damaging	1.00
R0884:Nfatc4	UTSW	14	55826644	missense	probably damaging	1.00
R0965:Nfatc4	UTSW	14	55826586	missense	probably damaging	1.00
R1141:Nfatc4	UTSW	14	55832631	missense	probably damaging	1.00
R2309:Nfatc4	UTSW	14	55827004	missense	probably damaging	1.00
R4200:Nfatc4	UTSW	14	55832032	missense	probably damaging	1.00
R4905:Nfatc4	UTSW	14	55830582	missense	probably benign	0.16
R5067:Nfatc4	UTSW	14	55832418	missense	probably damaging	0.98
R5202:Nfatc4	UTSW	14	55826659	missense	probably damaging	1.00
R5415:Nfatc4	UTSW	14	55832634	missense	probably benign
R5585:Nfatc4	UTSW	14	55826755	missense	probably damaging	0.98
R5599:Nfatc4	UTSW	14	55832276	missense	probably benign	0.02
R6030:Nfatc4	UTSW	14	55832440	nonsense	probably null
R6030:Nfatc4	UTSW	14	55832440	nonsense	probably null
R6172:Nfatc4	UTSW	14	55829533	missense	possibly damaging	0.83
R7292:Nfatc4	UTSW	14	55825055	missense	probably damaging	1.00
R7473:Nfatc4	UTSW	14	55831964	missense	probably benign	0.19
R7738:Nfatc4	UTSW	14	55831957	missense	possibly damaging	0.83
R8309:Nfatc4	UTSW	14	55826391	missense	probably damaging	0.99
R8445:Nfatc4	UTSW	14	55826418	missense	possibly damaging	0.85
R8853:Nfatc4	UTSW	14	55826233	missense	probably damaging	0.98
R9177:Nfatc4	UTSW	14	55827228	missense	probably damaging	1.00
R9268:Nfatc4	UTSW	14	55827228	missense	probably damaging	1.00
R9553:Nfatc4	UTSW	14	55832802	missense	probably damaging	1.00
R9667:Nfatc4	UTSW	14	55829507	missense	probably benign	0.36

Predicted Primers

Posted On

2017-05-15