Mutagenetix > Incidental Mutation

Incidental Mutation 'R4905:Nfatc4'

378130

Institutional Source

Beutler Lab

Gene Symbol

Nfatc4

Ensembl Gene

ENSMUSG00000023411

Gene Name

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

Synonyms

3110041H08Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4905 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56062252-56071400 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56068039 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 620 (I620T)

Ref Sequence

ENSEMBL: ENSMUSP00000132763 (fasta)

Gene Model

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

AlphaFold

Q8K120

Predicted Effect

probably benign
Transcript: ENSMUST00000024179
AA Change: I620T

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000024179
Gene: ENSMUSG00000023411
AA Change: I620T

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 benign
Transcript: ENSMUST00000172271
AA Change: I620T

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000132763
Gene: ENSMUSG00000023411
AA Change: I620T

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
AA Change: I550T

PolyPhen 2 Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226536

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226716

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226834

Predicted Effect

unknown
Transcript: ENSMUST00000228308
AA Change: I93T

Predicted Effect

probably benign
Transcript: ENSMUST00000226979

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227746

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226869

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.0%
20x: 87.5%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	A	T	10: 100,448,680 (GRCm39)		probably null	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Abcc5	A	G	16: 20,218,678 (GRCm39)	S235P	probably damaging	Het
Abcc6	T	C	7: 45,644,649 (GRCm39)	N842S	probably benign	Het
Acbd6	G	A	1: 155,500,669 (GRCm39)	V210I	probably benign	Het
Ahctf1	A	T	1: 179,576,192 (GRCm39)	V2130D	probably damaging	Het
Akap5	A	G	12: 76,375,207 (GRCm39)	E213G	probably damaging	Het
Alyref	T	G	11: 120,486,879 (GRCm39)		probably null	Het
Anapc5	G	T	5: 122,955,973 (GRCm39)	N152K	probably benign	Het
Atp8b2	A	T	3: 89,856,315 (GRCm39)	D416E	probably benign	Het
AW551984	A	T	9: 39,508,454 (GRCm39)	V354E	probably damaging	Het
Bag6	A	G	17: 35,364,162 (GRCm39)	E844G	probably damaging	Het
Bmp1	C	T	14: 70,728,802 (GRCm39)	R590H	probably benign	Het
Ccnh	T	C	13: 85,354,254 (GRCm39)	S233P	possibly damaging	Het
Cdca7	TGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	TGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	2: 72,312,205 (GRCm39)		probably benign	Het
Col6a6	A	G	9: 105,644,623 (GRCm39)	S1222P	probably damaging	Het
Dhfr	G	A	13: 92,502,282 (GRCm39)	G118S	probably damaging	Het
Dnah9	G	A	11: 65,764,950 (GRCm39)	R1414*	probably null	Het
Dnai1	A	G	4: 41,614,269 (GRCm39)	D315G	probably benign	Het
Eogt	T	C	6: 97,119,792 (GRCm39)	R139G	probably benign	Het
Fcgbpl1	A	T	7: 27,856,408 (GRCm39)	K2065M	possibly damaging	Het
Fh1	C	T	1: 175,446,639 (GRCm39)	G79E	probably damaging	Het
Gabrg3	A	G	7: 56,374,304 (GRCm39)	Y421H	probably damaging	Het
Glipr1	C	A	10: 111,821,545 (GRCm39)	R219L	probably damaging	Het
Gm1123	T	C	9: 98,891,369 (GRCm39)	D360G	probably benign	Het
Ift81	C	T	5: 122,729,142 (GRCm39)		probably null	Het
Itsn2	A	G	12: 4,684,583 (GRCm39)		probably benign	Het
Kri1	A	T	9: 21,198,998 (GRCm39)	H55Q	probably benign	Het
Mcidas	C	T	13: 113,134,038 (GRCm39)	T174M	possibly damaging	Het
Mcidas	C	A	13: 113,130,951 (GRCm39)	A92E	possibly damaging	Het
Mmp25	C	A	17: 23,863,022 (GRCm39)	G130*	probably null	Het
Myh11	G	A	16: 14,068,387 (GRCm39)	T211M	probably benign	Het
Myo10	A	G	15: 25,800,298 (GRCm39)	D1458G	probably damaging	Het
Ncf4	A	G	15: 78,139,104 (GRCm39)	T154A	probably damaging	Het
Nos3	A	T	5: 24,572,329 (GRCm39)	Y134F	probably benign	Het
Nup50l	T	A	6: 96,142,911 (GRCm39)	R44S	possibly damaging	Het
Or13c3	T	C	4: 52,855,613 (GRCm39)	N300S	probably damaging	Het
Or51a6	A	T	7: 102,604,721 (GRCm39)	I36N	probably damaging	Het
Or5b106	C	A	19: 13,123,541 (GRCm39)	A161S	probably benign	Het
Or6c209	T	A	10: 129,483,792 (GRCm39)	V265E	possibly damaging	Het
Pax9	G	T	12: 56,743,411 (GRCm39)	R19S	probably damaging	Het
Pcdha9	T	C	18: 37,131,945 (GRCm39)	I338T	probably damaging	Het
Plxnb2	G	T	15: 89,041,614 (GRCm39)	T1730K	probably damaging	Het
Rac1	A	G	5: 143,502,907 (GRCm39)		probably null	Het
Samsn1	G	T	16: 75,673,353 (GRCm39)	F174L	possibly damaging	Het
Scaf1	G	A	7: 44,662,129 (GRCm39)	T86M	probably damaging	Het
Smc1b	A	G	15: 84,950,428 (GRCm39)	Y1199H	probably damaging	Het
Svep1	A	G	4: 58,069,308 (GRCm39)	I2826T	probably benign	Het
Tex36	A	G	7: 133,189,182 (GRCm39)	V130A	probably damaging	Het
Tigd5	A	G	15: 75,783,252 (GRCm39)	H538R	probably damaging	Het
Tlr3	C	A	8: 45,852,260 (GRCm39)		probably null	Het
Tubb2b	A	T	13: 34,312,187 (GRCm39)	I202N	probably damaging	Het
Unc13c	A	G	9: 73,587,674 (GRCm39)	V1453A	probably benign	Het
Unc5c	A	T	3: 141,507,071 (GRCm39)	T608S	probably benign	Het
Vrk1	C	A	12: 106,018,087 (GRCm39)	H119N	probably damaging	Het
Wdr53	T	A	16: 32,075,476 (GRCm39)	M227K	probably benign	Het
Xpo4	T	C	14: 57,875,746 (GRCm39)	D129G	possibly damaging	Het
Zcchc4	T	C	5: 52,953,992 (GRCm39)	I224T	probably damaging	Het
Zdhhc1	T	A	8: 106,210,326 (GRCm39)	E30D	probably damaging	Het
Zscan29	C	G	2: 120,991,864 (GRCm39)	R540T	possibly 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
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
R8853:Nfatc4	UTSW	14	56,063,690 (GRCm39)	missense	probably damaging	0.98
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'- ACCATGAAAAGAGGGCTCC -3'
(R):5'- GATTGTGGTCACATCCATCTCC -3'

Sequencing Primer
(F):5'- GAGAGGGCTGTCTTTTCTCCAC -3'
(R):5'- CTCCCCATGAGAAGCTGTAC -3'

Posted On

2016-04-15