Mutagenetix > Incidental Mutation

Incidental Mutation 'R8783:Nfatc3'

670417

Institutional Source

Beutler Lab

Gene Symbol

Nfatc3

Ensembl Gene

ENSMUSG00000031902

Gene Name

nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 3

Synonyms

NFATx, D8Ertd281e, NFAT4

MMRRC Submission

068631-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8783 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106785472-106857169 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 106825784 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 620 (I620F)

Ref Sequence

ENSEMBL: ENSMUSP00000104931 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109308] [ENSMUST00000211991] [ENSMUST00000212742]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109308
AA Change: I620F

PolyPhen 2 Score 0.627 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000104931
Gene: ENSMUSG00000031902
AA Change: I620F

Domain	Start	End	E-Value	Type
low complexity region	153	182	N/A	INTRINSIC
low complexity region	205	225	N/A	INTRINSIC
low complexity region	257	271	N/A	INTRINSIC
low complexity region	286	305	N/A	INTRINSIC
Pfam:RHD_DNA_bind	434	593	4.9e-25	PFAM
IPT	600	699	1.19e-20	SMART
low complexity region	713	722	N/A	INTRINSIC
low complexity region	917	938	N/A	INTRINSIC
low complexity region	954	967	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211991
AA Change: I612F

PolyPhen 2 Score 0.494 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212742
AA Change: I612F

PolyPhen 2 Score 0.494 (Sensitivity: 0.88; Specificity: 0.90)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (75/75)

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 member of the nuclear factors 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. Other members of this family participate to form this complex also. The product of this gene plays a role in the regulation of gene expression in T cells and immature thymocytes. Several transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Nov 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene experience some embryonic lethality and reduced body size. Developmental defects also exist in the immune system , skeletal muscle, vasculature, heart, and sensory nerves. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833439L19Rik	T	A	13: 54,700,520 (GRCm39)	M273L	probably benign	Het
Aars1	A	G	8: 111,776,515 (GRCm39)	N657S	probably benign	Het
Ahnak	A	T	19: 8,988,837 (GRCm39)	N3374Y	probably damaging	Het
Ank2	T	C	3: 126,846,455 (GRCm39)	E180G	probably damaging	Het
Arhgap20	T	A	9: 51,727,967 (GRCm39)		probably benign	Het
Armc5	G	A	7: 127,837,425 (GRCm39)	A43T	probably damaging	Het
Atad3a	T	A	4: 155,840,152 (GRCm39)	D142V	probably damaging	Het
B4galnt4	A	T	7: 140,643,759 (GRCm39)	K54M	probably damaging	Het
Bcl11b	T	C	12: 107,883,562 (GRCm39)	E251G	probably damaging	Het
Bptf	A	G	11: 107,022,357 (GRCm39)	V131A	unknown	Het
Btbd7	T	A	12: 102,754,501 (GRCm39)	H755L	probably benign	Het
Cadps2	A	G	6: 23,302,303 (GRCm39)	V1128A	possibly damaging	Het
Ccl2	T	C	11: 81,927,360 (GRCm39)	I43T	probably damaging	Het
Cdc25b	T	G	2: 131,033,772 (GRCm39)	S207A	probably benign	Het
Chd4	A	G	6: 125,100,347 (GRCm39)	T1725A	possibly damaging	Het
Cmya5	A	T	13: 93,225,888 (GRCm39)	S3067T	possibly damaging	Het
Col9a3	G	A	2: 180,255,970 (GRCm39)	D448N	probably damaging	Het
Cpxm1	C	A	2: 130,237,643 (GRCm39)	R187S	probably benign	Het
Cramp1	T	A	17: 25,193,732 (GRCm39)	N916I	probably damaging	Het
Creld1	A	G	6: 113,468,686 (GRCm39)	Y269C	probably damaging	Het
Ctsz	G	T	2: 174,280,675 (GRCm39)	S6*	probably null	Het
Cul7	T	C	17: 46,966,575 (GRCm39)	S633P	probably benign	Het
Eci2	T	A	13: 35,174,180 (GRCm39)	N160I	probably damaging	Het
Eef2	T	A	10: 81,015,499 (GRCm39)	M340K	probably damaging	Het
Enpp6	A	T	8: 47,440,220 (GRCm39)	Y72F	possibly damaging	Het
Erbb4	A	C	1: 68,079,331 (GRCm39)	Y1250D	possibly damaging	Het
Fhad1	C	T	4: 141,636,403 (GRCm39)	V1146M	probably benign	Het
Fryl	T	C	5: 73,226,185 (GRCm39)	Y1826C	probably benign	Het
Gm3252	A	G	14: 4,743,761 (GRCm38)	K200E	probably benign	Het
Gramd1a	T	C	7: 30,832,220 (GRCm39)	T640A	possibly damaging	Het
Gse1	A	T	8: 121,303,117 (GRCm39)	Q1086L	unknown	Het
Gtf2f2	C	A	14: 76,245,164 (GRCm39)	G41W	probably damaging	Het
Hhat	A	G	1: 192,196,245 (GRCm39)	Y483H	probably damaging	Het
Ifna13	T	A	4: 88,562,526 (GRCm39)	R33W	probably damaging	Het
Ighg2c	T	A	12: 113,252,412 (GRCm39)	S47C		Het
Ing5	A	T	1: 93,740,154 (GRCm39)	D101V	probably damaging	Het
Kif23	T	C	9: 61,834,853 (GRCm39)	T379A	probably benign	Het
Ltn1	A	T	16: 87,207,247 (GRCm39)	S898T	probably benign	Het
Mep1a	T	C	17: 43,789,081 (GRCm39)	D578G	probably benign	Het
Mgam	A	T	6: 40,633,423 (GRCm39)	H243L	probably damaging	Het
Mlf1	G	A	3: 67,291,997 (GRCm39)	R54H	probably benign	Het
Mtus2	A	T	5: 148,019,861 (GRCm39)	K752M	probably damaging	Het
Muc21	T	C	17: 35,930,875 (GRCm39)	T1104A	unknown	Het
Mup18	T	A	4: 61,591,767 (GRCm39)	D53V	probably benign	Het
Neb	A	T	2: 52,148,644 (GRCm39)	D2634E	probably damaging	Het
Nrg1	A	T	8: 32,448,629 (GRCm39)	L104Q	probably benign	Het
Nsd2	T	A	5: 34,036,455 (GRCm39)	D646E	possibly damaging	Het
Or10w1	A	T	19: 13,632,323 (GRCm39)	R177W	probably damaging	Het
Or4p19	T	C	2: 88,242,951 (GRCm39)	N17S	probably benign	Het
Or51ai2	A	T	7: 103,586,751 (GRCm39)	T55S	possibly damaging	Het
Pbp2	T	C	6: 135,287,330 (GRCm39)	S6G	probably benign	Het
Pcdhga5	T	C	18: 37,828,596 (GRCm39)	I348T	probably benign	Het
Pdxk	A	G	10: 78,287,339 (GRCm39)	V74A	probably benign	Het
Pdzrn3	C	T	6: 101,132,841 (GRCm39)	R469H	probably damaging	Het
Pla2g4a	A	T	1: 149,740,741 (GRCm39)	S395R	probably damaging	Het
Polr2i	A	G	7: 29,931,790 (GRCm39)	Y7C	possibly damaging	Het
Psmc5	A	T	11: 106,153,858 (GRCm39)	K397N	possibly damaging	Het
Ptprz1	A	G	6: 23,002,026 (GRCm39)	D1372G	probably benign	Het
R3hdm2	T	G	10: 127,293,521 (GRCm39)	S142A	probably damaging	Het
Rapgef2	A	T	3: 79,005,651 (GRCm39)	V181E	probably damaging	Het
Rassf3	T	G	10: 121,253,069 (GRCm39)	N46T	probably benign	Het
Rnf123	T	C	9: 107,946,272 (GRCm39)	E301G	probably benign	Het
Sec24b	T	A	3: 129,783,342 (GRCm39)	M1099L	probably benign	Het
Shisa4	A	G	1: 135,300,944 (GRCm39)	C109R	probably damaging	Het
Slc7a1	T	A	5: 148,279,643 (GRCm39)	E237V	probably benign	Het
Syna	C	T	5: 134,588,723 (GRCm39)	M75I	probably benign	Het
Tas2r105	A	G	6: 131,663,732 (GRCm39)	I232T	possibly damaging	Het
Tas2r136	T	C	6: 132,754,612 (GRCm39)	T172A	probably benign	Het
Tdpoz8	A	G	3: 92,981,780 (GRCm39)	Y192C	probably damaging	Het
Trim6	G	A	7: 103,874,853 (GRCm39)	C30Y	probably damaging	Het
Trim65	T	A	11: 116,017,143 (GRCm39)	N440Y	probably damaging	Het
Ttn	A	C	2: 76,573,694 (GRCm39)	I25733S	probably damaging	Het
Ttn	T	G	2: 76,619,358 (GRCm39)	T16035P	probably damaging	Het
Vmn2r73	A	T	7: 85,507,668 (GRCm39)	M548K	probably damaging	Het
Vmn2r88	A	T	14: 51,651,523 (GRCm39)	E279V		Het
Wfdc8	G	A	2: 164,447,769 (GRCm39)	S97F	probably benign	Het
Wrn	G	A	8: 33,826,041 (GRCm39)	A207V	probably null	Het
Xrcc2	T	C	5: 25,897,217 (GRCm39)	D244G	possibly damaging	Het
Zfp251	C	T	15: 76,737,413 (GRCm39)	G560E	probably damaging	Het

Other mutations in Nfatc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00885:Nfatc3	APN	8	106,825,809 (GRCm39)	missense	probably damaging	1.00
IGL01755:Nfatc3	APN	8	106,854,553 (GRCm39)	missense	probably benign	0.42
IGL02314:Nfatc3	APN	8	106,805,532 (GRCm39)	missense	probably benign	0.21
IGL02724:Nfatc3	APN	8	106,834,817 (GRCm39)	missense	probably benign	0.29
Kampf	UTSW	8	106,825,782 (GRCm39)	missense	probably benign	0.23
Struggles	UTSW	8	106,810,502 (GRCm39)	nonsense	probably null
PIT1430001:Nfatc3	UTSW	8	106,786,605 (GRCm39)	missense	possibly damaging	0.78
PIT4515001:Nfatc3	UTSW	8	106,805,835 (GRCm39)	missense	possibly damaging	0.94
R0088:Nfatc3	UTSW	8	106,854,574 (GRCm39)	missense	possibly damaging	0.90
R0348:Nfatc3	UTSW	8	106,818,827 (GRCm39)	missense	probably damaging	1.00
R0410:Nfatc3	UTSW	8	106,822,828 (GRCm39)	missense	probably damaging	1.00
R1509:Nfatc3	UTSW	8	106,810,486 (GRCm39)	missense	possibly damaging	0.46
R1702:Nfatc3	UTSW	8	106,818,792 (GRCm39)	missense	probably damaging	1.00
R1735:Nfatc3	UTSW	8	106,810,466 (GRCm39)	missense	probably damaging	1.00
R1736:Nfatc3	UTSW	8	106,805,482 (GRCm39)	missense	probably damaging	1.00
R1758:Nfatc3	UTSW	8	106,825,768 (GRCm39)	missense	probably damaging	1.00
R2370:Nfatc3	UTSW	8	106,835,087 (GRCm39)	missense	probably damaging	1.00
R2878:Nfatc3	UTSW	8	106,818,776 (GRCm39)	missense	probably damaging	1.00
R3802:Nfatc3	UTSW	8	106,806,277 (GRCm39)	missense	probably damaging	0.99
R3959:Nfatc3	UTSW	8	106,825,709 (GRCm39)	nonsense	probably null
R4006:Nfatc3	UTSW	8	106,835,471 (GRCm39)	missense	probably benign	0.00
R4079:Nfatc3	UTSW	8	106,806,123 (GRCm39)	missense	probably damaging	0.98
R4589:Nfatc3	UTSW	8	106,805,705 (GRCm39)	missense	probably damaging	1.00
R4818:Nfatc3	UTSW	8	106,835,011 (GRCm39)	missense	probably benign	0.00
R4907:Nfatc3	UTSW	8	106,806,359 (GRCm39)	missense	probably damaging	1.00
R5042:Nfatc3	UTSW	8	106,834,757 (GRCm39)	missense	probably benign	0.25
R5632:Nfatc3	UTSW	8	106,805,689 (GRCm39)	missense	probably damaging	1.00
R5741:Nfatc3	UTSW	8	106,805,698 (GRCm39)	missense	probably damaging	1.00
R5885:Nfatc3	UTSW	8	106,822,944 (GRCm39)	missense	probably benign	0.00
R6439:Nfatc3	UTSW	8	106,810,502 (GRCm39)	nonsense	probably null
R6557:Nfatc3	UTSW	8	106,845,986 (GRCm39)	missense	probably benign	0.01
R6737:Nfatc3	UTSW	8	106,810,601 (GRCm39)	missense	probably damaging	1.00
R6925:Nfatc3	UTSW	8	106,845,954 (GRCm39)	missense	probably benign	0.00
R7260:Nfatc3	UTSW	8	106,835,578 (GRCm39)	missense	probably benign	0.00
R7429:Nfatc3	UTSW	8	106,835,035 (GRCm39)	missense	probably benign	0.00
R7430:Nfatc3	UTSW	8	106,835,035 (GRCm39)	missense	probably benign	0.00
R7526:Nfatc3	UTSW	8	106,805,715 (GRCm39)	missense	probably damaging	1.00
R7760:Nfatc3	UTSW	8	106,834,973 (GRCm39)	missense	possibly damaging	0.66
R8867:Nfatc3	UTSW	8	106,805,640 (GRCm39)	missense	probably damaging	1.00
R8978:Nfatc3	UTSW	8	106,835,402 (GRCm39)	missense	probably benign	0.03
R9021:Nfatc3	UTSW	8	106,818,745 (GRCm39)	missense	probably damaging	1.00
R9066:Nfatc3	UTSW	8	106,825,782 (GRCm39)	missense	probably benign	0.23
R9538:Nfatc3	UTSW	8	106,834,784 (GRCm39)	missense	probably benign	0.35
R9656:Nfatc3	UTSW	8	106,830,766 (GRCm39)	missense	probably damaging	1.00
X0063:Nfatc3	UTSW	8	106,810,571 (GRCm39)	missense	probably damaging	1.00
X0064:Nfatc3	UTSW	8	106,834,981 (GRCm39)	missense	probably benign	0.04
Z1177:Nfatc3	UTSW	8	106,818,698 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGAGCCAATGCATTAGTTAGAAAC -3'
(R):5'- ACCCAGTTGCTTACAGGATGC -3'

Sequencing Primer
(F):5'- CTGGGATTTGAACTCAGAACCTTCG -3'
(R):5'- GGATGCCTATAATTTTATGAAGACT -3'

Posted On

2021-04-30