Mutagenetix > Incidental Mutation

Incidental Mutation 'R1735:Nfatc3'

199638

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

039767-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1735 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106785472-106857169 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106810466 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 414 (D414G)

Ref Sequence

ENSEMBL: ENSMUSP00000148551 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000109308
AA Change: D422G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104931
Gene: ENSMUSG00000031902
AA Change: D422G

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

probably damaging
Transcript: ENSMUST00000211991
AA Change: D414G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212577

Predicted Effect

probably damaging
Transcript: ENSMUST00000212742
AA Change: D414G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212936

Coding Region Coverage

1x: 97.6%
3x: 97.0%
10x: 95.3%
20x: 92.1%

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 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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot5	A	T	12: 84,122,261 (GRCm39)	I282F	probably benign	Het
Adam19	C	A	11: 46,029,744 (GRCm39)	Q730K	probably benign	Het
Adgrv1	A	G	13: 81,636,066 (GRCm39)	V3481A	possibly damaging	Het
Akr1c20	T	C	13: 4,537,207 (GRCm39)	D316G	probably benign	Het
Ap3b1	G	A	13: 94,630,225 (GRCm39)	V827I	unknown	Het
Aph1a	T	A	3: 95,802,821 (GRCm39)	D140E	probably damaging	Het
Arhgef19	G	T	4: 140,976,929 (GRCm39)	V502L	possibly damaging	Het
Arl9	T	C	5: 77,154,473 (GRCm39)	F67S	probably damaging	Het
B430305J03Rik	G	A	3: 61,271,361 (GRCm39)		probably benign	Het
B4galnt2	A	G	11: 95,781,809 (GRCm39)	F119L	probably damaging	Het
Bcap29	T	A	12: 31,680,839 (GRCm39)	N49I	probably damaging	Het
Capn11	T	A	17: 45,943,327 (GRCm39)	K616*	probably null	Het
Cdh12	T	A	15: 21,520,452 (GRCm39)	Y306N	probably damaging	Het
Cep350	T	A	1: 155,828,960 (GRCm39)	N315Y	probably damaging	Het
Cfap300	A	C	9: 8,027,266 (GRCm39)	S91A	probably benign	Het
Cited2	C	A	10: 17,599,794 (GRCm39)	P34Q	probably damaging	Het
Cmya5	A	T	13: 93,226,297 (GRCm39)	D2930E	probably benign	Het
Cog3	T	A	14: 75,966,761 (GRCm39)	K470*	probably null	Het
Commd10	A	G	18: 47,123,552 (GRCm39)	T136A	probably benign	Het
Csf2ra	C	A	19: 61,214,782 (GRCm39)	D181Y	probably damaging	Het
Csmd1	T	A	8: 15,982,610 (GRCm39)	I2686F	probably damaging	Het
Dhx29	T	C	13: 113,081,620 (GRCm39)	S415P	probably benign	Het
Dsel	A	T	1: 111,788,645 (GRCm39)	F630Y	probably damaging	Het
Ell	T	A	8: 71,031,590 (GRCm39)	I96N	possibly damaging	Het
Ephx2	T	A	14: 66,325,752 (GRCm39)	I358L	probably benign	Het
Fam162b	A	G	10: 51,463,307 (GRCm39)	I120T	probably damaging	Het
Fam187a	T	C	11: 102,776,606 (GRCm39)	Y137H	probably damaging	Het
Fastk	T	C	5: 24,646,801 (GRCm39)	E403G	probably damaging	Het
Fcrlb	C	A	1: 170,734,901 (GRCm39)	V409F	probably benign	Het
Flot2	G	T	11: 77,948,831 (GRCm39)	A269S	probably benign	Het
Gpd2	T	A	2: 57,245,563 (GRCm39)	N419K	probably damaging	Het
Hecw1	A	T	13: 14,552,350 (GRCm39)	M61K	probably null	Het
Htr2a	T	C	14: 74,943,568 (GRCm39)	F383L	probably damaging	Het
Kctd6	C	T	14: 8,222,253 (GRCm38)	R32C	probably damaging	Het
Khdc1a	A	G	1: 21,421,189 (GRCm39)	T125A	probably benign	Het
Klhl40	T	C	9: 121,609,004 (GRCm39)	S390P	probably benign	Het
Lonp1	G	A	17: 56,921,956 (GRCm39)	T808I	probably damaging	Het
Loxhd1	A	C	18: 77,492,585 (GRCm39)	D1342A	probably damaging	Het
Lrat	T	C	3: 82,804,417 (GRCm39)	I187V	probably benign	Het
Lrif1	T	C	3: 106,643,162 (GRCm39)	*238Q	probably null	Het
Lrp2bp	T	C	8: 46,465,025 (GRCm39)	F48S	probably benign	Het
Mafg	A	G	11: 120,520,504 (GRCm39)	M32T	possibly damaging	Het
Map4	C	T	9: 109,864,023 (GRCm39)	T416I	probably benign	Het
N4bp2	T	C	5: 65,965,659 (GRCm39)	F1236S	probably damaging	Het
Nhsl3	G	T	4: 129,117,370 (GRCm39)	S476R	probably damaging	Het
Nrip2	T	G	6: 128,382,037 (GRCm39)	V50G	probably damaging	Het
Or10aa3	A	T	1: 173,878,365 (GRCm39)	K142I	probably benign	Het
Or10j5	A	G	1: 172,784,374 (GRCm39)	N4S	probably benign	Het
Or52ae7	T	A	7: 103,119,353 (GRCm39)	F36I	possibly damaging	Het
Or5b24	T	A	19: 12,912,207 (GRCm39)	I35N	probably damaging	Het
Pcdhb18	A	T	18: 37,623,822 (GRCm39)	H384L	probably benign	Het
Pik3r1	A	T	13: 101,822,882 (GRCm39)	Y607N	probably damaging	Het
Plagl2	G	A	2: 153,074,397 (GRCm39)	T168I	probably damaging	Het
Polr2a	A	G	11: 69,633,222 (GRCm39)	S912P	probably damaging	Het
Ppp1r16b	A	G	2: 158,603,415 (GRCm39)	K447E	possibly damaging	Het
Prkd1	T	C	12: 50,388,822 (GRCm39)	E907G	possibly damaging	Het
Rabep2	A	G	7: 126,043,712 (GRCm39)	R470G	probably damaging	Het
Rasal2	T	C	1: 157,001,730 (GRCm39)	Y518C	probably damaging	Het
Rbmxl1	A	G	8: 79,232,711 (GRCm39)	Y211H	probably damaging	Het
Rdh7	T	C	10: 127,720,454 (GRCm39)	Y306C	probably benign	Het
Rtn3	T	C	19: 7,435,276 (GRCm39)	I220V	probably damaging	Het
Scn8a	A	G	15: 100,913,742 (GRCm39)	N1045D	possibly damaging	Het
Scube1	T	C	15: 83,491,638 (GRCm39)	H952R	probably damaging	Het
Sf3b1	A	G	1: 55,039,811 (GRCm39)	I690T	probably damaging	Het
Sharpin	T	C	15: 76,232,136 (GRCm39)	K240R	probably benign	Het
Skint5	A	G	4: 113,420,656 (GRCm39)	I1108T	unknown	Het
Snip1	A	G	4: 124,964,994 (GRCm39)	D133G	probably benign	Het
St3gal3	T	C	4: 117,871,971 (GRCm39)	Y77C	probably damaging	Het
Sytl3	T	C	17: 6,982,880 (GRCm39)	V112A	probably benign	Het
Tnxb	C	T	17: 34,936,944 (GRCm39)	P3718S	probably damaging	Het
Ttc24	A	T	3: 87,980,401 (GRCm39)		probably null	Het
Ubr3	A	T	2: 69,839,473 (GRCm39)	E1529V	probably damaging	Het
Utrn	T	A	10: 12,585,882 (GRCm39)	H965L	probably benign	Het
Xrn2	T	A	2: 146,903,343 (GRCm39)	L781Q	probably damaging	Het
Zbtb11	T	C	16: 55,811,045 (GRCm39)	I401T	probably benign	Het
Zc3h14	C	T	12: 98,724,839 (GRCm39)	P167L	probably damaging	Het
Zfp609	G	T	9: 65,610,374 (GRCm39)	S863*	probably null	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
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
R8783:Nfatc3	UTSW	8	106,825,784 (GRCm39)	missense	possibly damaging	0.63
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'- CACAGCTACGGGCTTTAAGAAATTGAAC -3'
(R):5'- TCCCAAATCTCTTACCTTCACAACAGGA -3'

Sequencing Primer
(F):5'- actcaggacctttggaagaac -3'
(R):5'- CACCAGTAGAGGCTTTCACT -3'

Posted On

2014-05-23