Mutagenetix > Incidental Mutation

Incidental Mutation 'R8853:Nfatc4'

675141

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

068675-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8853 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56062252-56071400 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56063690 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 59 (I59T)

Ref Sequence

ENSEMBL: ENSMUSP00000024179 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024179] [ENSMUST00000172271] [ENSMUST00000226357] [ENSMUST00000226979]

AlphaFold

Q8K120

Predicted Effect

probably damaging
Transcript: ENSMUST00000024179
AA Change: I59T

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000024179
Gene: ENSMUSG00000023411
AA Change: I59T

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

probably damaging
Transcript: ENSMUST00000172271
AA Change: I59T

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000132763
Gene: ENSMUSG00000023411
AA Change: I59T

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

probably benign
Transcript: ENSMUST00000226357

Predicted Effect

probably benign
Transcript: ENSMUST00000226979

Predicted Effect

probably benign
Transcript: ENSMUST00000228308

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (56/57)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aoc1	A	T	6: 48,882,994 (GRCm39)	Y290F	probably benign	Het
Ap5m1	T	A	14: 49,311,337 (GRCm39)	L136M	possibly damaging	Het
Arpp21	T	G	9: 111,976,516 (GRCm39)	T322P	probably damaging	Het
Atp6v1c2	C	T	12: 17,351,148 (GRCm39)	V128M	possibly damaging	Het
C4b	A	G	17: 34,948,879 (GRCm39)	V1523A	possibly damaging	Het
Copg2	G	C	6: 30,803,115 (GRCm39)	L277V	probably benign	Het
Cyp2b19	A	G	7: 26,456,645 (GRCm39)	T12A	possibly damaging	Het
D5Ertd579e	A	T	5: 36,787,024 (GRCm39)	C115S	probably damaging	Het
Defb35	G	A	8: 22,430,806 (GRCm39)	R60Q	unknown	Het
Dlgap3	T	A	4: 127,088,810 (GRCm39)	D135E	probably damaging	Het
Dync2h1	A	T	9: 7,117,645 (GRCm39)	W2215R	possibly damaging	Het
Eea1	G	C	10: 95,857,517 (GRCm39)	A660P		Het
Egfr	A	G	11: 16,858,885 (GRCm39)	I955V	possibly damaging	Het
Eif3b	G	A	5: 140,425,774 (GRCm39)	V655M	probably damaging	Het
Elp3	T	A	14: 65,815,390 (GRCm39)	I220F	probably benign	Het
Ern2	A	G	7: 121,772,967 (GRCm39)	V550A	probably damaging	Het
Evc	G	A	5: 37,460,647 (GRCm39)	S857L	possibly damaging	Het
Glt28d2	T	A	3: 85,779,087 (GRCm39)	M129L	probably benign	Het
Hcn1	ACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ACAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	13: 118,112,269 (GRCm39)		probably benign	Het
Hmcn1	A	T	1: 150,547,726 (GRCm39)	Y2742N	probably damaging	Het
Klhl6	T	A	16: 19,765,979 (GRCm39)	Q541L	possibly damaging	Het
Myh14	G	A	7: 44,265,678 (GRCm39)	T1559I	probably benign	Het
Myo7b	A	G	18: 32,119,744 (GRCm39)	F783L	possibly damaging	Het
Myrip	C	T	9: 120,290,487 (GRCm39)	A702V	probably damaging	Het
Ndnf	C	A	6: 65,680,161 (GRCm39)	Q147K	probably benign	Het
Necab2	C	G	8: 120,189,339 (GRCm39)	R170G	possibly damaging	Het
Nfix	A	G	8: 85,454,276 (GRCm39)	S211P	probably damaging	Het
Nlrp5	A	T	7: 23,117,725 (GRCm39)	Q483L	possibly damaging	Het
Or6k14	T	C	1: 173,927,861 (GRCm39)	V279A	probably damaging	Het
Pde4a	A	G	9: 21,106,119 (GRCm39)	T245A	possibly damaging	Het
Peli2	C	T	14: 48,493,945 (GRCm39)	T389M	probably damaging	Het
Pfas	T	C	11: 68,883,744 (GRCm39)	K638E	probably damaging	Het
Pkhd1	A	G	1: 20,143,679 (GRCm39)		probably null	Het
Plch1	T	C	3: 63,688,967 (GRCm39)	D67G	probably damaging	Het
Plcl2	A	T	17: 50,913,884 (GRCm39)	R298*	probably null	Het
Ppp1r13l	A	G	7: 19,103,893 (GRCm39)	I125V	probably benign	Het
Ppp2r3d	A	G	9: 101,090,110 (GRCm39)	V71A	probably benign	Het
Pvr	A	G	7: 19,650,897 (GRCm39)	V209A	possibly damaging	Het
Rap1gap2	A	G	11: 74,298,198 (GRCm39)	L414P	probably damaging	Het
Rasgrp2	A	G	19: 6,464,855 (GRCm39)	D601G	probably damaging	Het
Reck	T	A	4: 43,912,089 (GRCm39)	N199K	probably benign	Het
Rin2	G	T	2: 145,718,475 (GRCm39)	A652S	possibly damaging	Het
Rnf34	T	C	5: 123,002,087 (GRCm39)	L88P	possibly damaging	Het
Serpina3m	A	G	12: 104,355,914 (GRCm39)	I194V	probably benign	Het
Spred3	A	G	7: 28,861,415 (GRCm39)	S255P	probably benign	Het
Sult2a7	A	G	7: 14,225,641 (GRCm39)		probably null	Het
Synpo2l	C	A	14: 20,711,442 (GRCm39)	G622C	probably damaging	Het
Tenm3	A	G	8: 48,795,382 (GRCm39)	C582R	probably damaging	Het
Tex261	A	T	6: 83,750,727 (GRCm39)	I90N	probably damaging	Het
Trappc11	A	G	8: 47,982,439 (GRCm39)	F100S	probably damaging	Het
Trhde	G	A	10: 114,636,830 (GRCm39)	P126S	probably benign	Het
Vmn2r53	A	T	7: 12,315,737 (GRCm39)	V694E	probably damaging	Het
Vmn2r54	A	T	7: 12,349,782 (GRCm39)	L600Q	probably damaging	Het
Vwf	G	A	6: 125,634,227 (GRCm39)	C2174Y		Het
Wee2	A	G	6: 40,441,200 (GRCm39)	T502A	probably benign	Het
Zfp112	A	T	7: 23,823,390 (GRCm39)		silent	Het
Zfp40	T	A	17: 23,394,691 (GRCm39)	H632L	possibly damaging	Het
Zmynd11	T	C	13: 9,740,965 (GRCm39)	S378G	probably damaging	Het

Other mutations in Nfatc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00690:Nfatc4	APN	14	56,070,019 (GRCm39)	missense	probably damaging	1.00
IGL01295:Nfatc4	APN	14	56,069,962 (GRCm39)	missense	probably benign	0.03
IGL01791:Nfatc4	APN	14	56,069,695 (GRCm39)	missense	probably null	0.04
IGL02536:Nfatc4	APN	14	56,067,367 (GRCm39)	missense	probably damaging	1.00
R0448:Nfatc4	UTSW	14	56,069,111 (GRCm39)	missense	possibly damaging	0.90
R0571:Nfatc4	UTSW	14	56,067,485 (GRCm39)	missense	probably damaging	0.96
R0743:Nfatc4	UTSW	14	56,064,101 (GRCm39)	missense	probably damaging	1.00
R0884:Nfatc4	UTSW	14	56,064,101 (GRCm39)	missense	probably damaging	1.00
R0965:Nfatc4	UTSW	14	56,064,043 (GRCm39)	missense	probably damaging	1.00
R1141:Nfatc4	UTSW	14	56,070,088 (GRCm39)	missense	probably damaging	1.00
R2309:Nfatc4	UTSW	14	56,064,461 (GRCm39)	missense	probably damaging	1.00
R2680:Nfatc4	UTSW	14	56,070,291 (GRCm39)	unclassified	probably benign
R4200:Nfatc4	UTSW	14	56,069,489 (GRCm39)	missense	probably damaging	1.00
R4905:Nfatc4	UTSW	14	56,068,039 (GRCm39)	missense	probably benign	0.16
R5067:Nfatc4	UTSW	14	56,069,875 (GRCm39)	missense	probably damaging	0.98
R5202:Nfatc4	UTSW	14	56,064,116 (GRCm39)	missense	probably damaging	1.00
R5415:Nfatc4	UTSW	14	56,070,091 (GRCm39)	missense	probably benign
R5585:Nfatc4	UTSW	14	56,064,212 (GRCm39)	missense	probably damaging	0.98
R5599:Nfatc4	UTSW	14	56,069,733 (GRCm39)	missense	probably benign	0.02
R6030:Nfatc4	UTSW	14	56,069,897 (GRCm39)	nonsense	probably null
R6030:Nfatc4	UTSW	14	56,069,897 (GRCm39)	nonsense	probably null
R6172:Nfatc4	UTSW	14	56,066,990 (GRCm39)	missense	possibly damaging	0.83
R7292:Nfatc4	UTSW	14	56,062,512 (GRCm39)	missense	probably damaging	1.00
R7473:Nfatc4	UTSW	14	56,069,421 (GRCm39)	missense	probably benign	0.19
R7738:Nfatc4	UTSW	14	56,069,414 (GRCm39)	missense	possibly damaging	0.83
R8309:Nfatc4	UTSW	14	56,063,848 (GRCm39)	missense	probably damaging	0.99
R8445:Nfatc4	UTSW	14	56,063,875 (GRCm39)	missense	possibly damaging	0.85
R9177:Nfatc4	UTSW	14	56,064,685 (GRCm39)	missense	probably damaging	1.00
R9268:Nfatc4	UTSW	14	56,064,685 (GRCm39)	missense	probably damaging	1.00
R9553:Nfatc4	UTSW	14	56,070,259 (GRCm39)	missense	probably damaging	1.00
R9667:Nfatc4	UTSW	14	56,066,964 (GRCm39)	missense	probably benign	0.36

Predicted Primers

PCR Primer
(F):5'- AGCATATCAGGCTTCAGGGG -3'
(R):5'- CCCCAAGTTTCAGATGTGTCC -3'

Sequencing Primer
(F):5'- GCTGACCATCCGAGAAACGTAG -3'
(R):5'- CAGATGTGTCCTCTAGCGAG -3'

Posted On

2021-07-15